POMC (proopiomelanocortin) - Rat Genome Database

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Gene: POMC (proopiomelanocortin) Homo sapiens
Analyze
Symbol: POMC
Name: proopiomelanocortin
RGD ID: 1352097
HGNC Page HGNC:9201
Description: Enables hormone activity and melanocortin receptor binding activity. Involved in several processes, including positive regulation of neutrophil mediated killing of fungus; regulation of appetite; and regulation of gene expression. Located in extracellular space and peroxisomal matrix. Implicated in several diseases, including alcohol dependence; familial Mediterranean fever; nicotine dependence; obesity; and osteoarthritis. Biomarker of Wernicke-Korsakoff syndrome; alcohol dependence; opiate dependence; and severe acute respiratory syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ACTH; adrenocorticotropic hormone; adrenocorticotropin; alpha-melanocyte-stimulating hormone; alpha-MSH; beta-endorphin; beta-LPH; beta-melanocyte-stimulating hormone; beta-MSH; CLIP; corticotropin-like intermediary peptide; corticotropin-lipotropin; gamma-LPH; gamma-MSH; lipotropin beta; lipotropin gamma; LPH; melanotropin alpha; melanotropin beta; melanotropin gamma; met-enkephalin; MSH; NPP; OBAIRH; opiomelanocortin prepropeptide; POC; pro-ACTH-endorphin; pro-opiomelanocortin; proopiomelanocortin preproprotein
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Candidate Gene For: BW207_H BW214_H SLEP5_H SLEP6_H SLEP8_H BW507_H INSUL1_H BW508_H
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38225,160,860 - 25,168,580 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl225,160,853 - 25,168,903 (-)EnsemblGRCh38hg38GRCh38
GRCh37225,383,729 - 25,391,449 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36225,237,226 - 25,245,063 (-)NCBINCBI36Build 36hg18NCBI36
Build 34225,295,438 - 25,303,103NCBI
Celera225,224,014 - 25,231,854 (-)NCBICelera
Cytogenetic Map2p23.3NCBI
HuRef225,121,466 - 25,129,306 (-)NCBIHuRef
CHM1_1225,313,607 - 25,321,447 (-)NCBICHM1_1
T2T-CHM13v2.0225,195,313 - 25,203,034 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
ACTH Syndrome, Ectopic  (EXP)
acute kidney failure  (EXP)
acute kidney tubular necrosis  (EXP)
Acute Liver Failure  (EXP)
adrenal cortex disease  (EXP)
Adrenal Insufficiency  (TAS)
alcohol dependence  (IAGP,IDA,IEP,ISO)
alcohol use disorder  (ISO)
alcohol withdrawal syndrome  (IEP,ISO)
Alcohol-Related Disorders  (ISO)
amnestic disorder  (EXP)
anxiety disorder  (ISO)
autistic disorder  (EXP)
Binge Drinking  (IEP,ISO)
bipolar disorder  (EXP)
Body Weight  (EXP)
Bradycardia  (EXP)
Burns  (EXP)
calcinosis  (EXP)
Cardiomegaly  (EXP)
cardiomyopathy  (EXP)
Catalepsy  (EXP)
Cerebral Hemorrhage  (EXP)
cerebral palsy  (EXP)
cholestasis  (EXP)
chondrocalcinosis  (EXP)
Cocaine-Related Disorders  (EXP)
congestive heart failure  (EXP)
Constipation  (EXP)
Cushing Syndrome  (EXP)
cystitis  (EXP)
depressive disorder  (EXP)
diabetes insipidus  (EXP)
diabetes mellitus  (EXP)
disease by infectious agent  (EXP)
disease of mental health  (EXP)
Edema  (EXP)
epilepsy  (EXP)
epilepsy with generalized tonic-clonic seizures  (EXP)
Experimental Arthritis  (ISO)
Experimental Liver Cirrhosis  (EXP)
eye disease  (EXP)
Eye Pain  (EXP)
facial paralysis  (EXP)
familial Mediterranean fever  (IDA)
Femur Head Necrosis  (EXP)
fetal alcohol spectrum disorder  (IDA)
Fetal Growth Retardation  (ISO)
Fever  (EXP)
gastrointestinal system disease  (EXP)
genetic disease  (IAGP)
glomerulonephritis  (EXP)
Gouty Arthritis  (EXP)
Hematuria  (EXP)
Hemorrhage  (EXP,ISO)
heroin dependence  (EXP,ISO)
Hirsutism  (EXP)
human immunodeficiency virus infectious disease  (ISO)
Hyperalgesia  (ISO)
Hypercalciuria  (EXP)
Hypernatremia  (EXP)
Hyperphagia  (IAGP)
hypertension  (EXP)
hypertrophic cardiomyopathy  (EXP)
Hypocalcemia  (EXP)
hypokalemia  (EXP)
Hypotension  (EXP)
hypothyroidism  (ISO)
Hypoxia  (EXP)
immune system disease  (EXP)
Inflammation  (IEP,ISO)
inflammatory bowel disease  (ISO)
Kidney Calculi  (EXP)
kidney disease  (EXP)
long QT syndrome  (EXP)
melanoma  (EXP)
morbid obesity  (TAS)
morphine dependence  (ISO)
morphine withdrawal syndrome  (ISO)
multiple sclerosis  (EXP)
myasthenia gravis  (EXP)
Myocardial Ischemia  (EXP)
Myoclonic Epilepsies  (EXP)
Nausea  (EXP)
Necrosis  (EXP)
nephrocalcinosis  (EXP)
Neuralgia  (ISO)
Neurogenic Inflammation  (EXP)
nicotine dependence  (IDA)
Nociceptive Pain  (ISO)
obesity  (EXP,IAGP,ISO,ISS)
Oliguria  (EXP)
opiate dependence  (IEP)
opioid abuse  (ISO)
Opsoclonus-Myoclonus Syndrome  (EXP)
osteoarthritis  (IMP)
osteoporosis  (EXP)
Pain  (EXP,ISO)
pancreas disease  (EXP)
penile disease  (EXP)
pituitary-dependent Cushing's disease  (EXP)
pneumonia  (EXP)
Postoperative Complications  (EXP)
Prenatal Exposure Delayed Effects  (ISO)
Proopiomelanocortin Deficiency  (EXP,IAGP)
proteinuria  (EXP)
Recurrence  (EXP)
renal cell carcinoma  (EXP)
restless legs syndrome  (EXP)
Rhabdomyoma  (EXP)
Sacroiliitis  (EXP)
severe acute respiratory syndrome  (IEP)
sick sinus syndrome  (EXP)
Sleep Deprivation  (ISO)
sleep disorder  (EXP)
steatotic liver disease  (EXP)
stress-related disorder  (IAGP,ISO)
subvalvular aortic stenosis  (EXP)
synovitis  (EXP)
Tatton-Brown-Rahman syndrome  (IAGP)
type 2 diabetes mellitus  (ISO)
urinary tract infection  (EXP)
Weight Gain  (EXP)
Weight Loss  (EXP)
Wernicke-Korsakoff syndrome  (IEP)
West syndrome  (EXP)
withdrawal disorder  (EXP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (EXP)
(20S)-20-hydroxypregn-4-en-3-one  (ISO)
(S)-colchicine  (ISO)
(S)-nicotine  (ISO)
(Z)-hex-3-en-1-ol  (ISO)
1,2-dimethylhydrazine  (ISO)
1-[3-(dimethylamino)propyl]-1-(4-fluorophenyl)-1,3-dihydro-2-benzofuran-5-carbonitrile  (EXP)
11-deoxycorticosterone  (EXP)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
18-hydroxycortisol  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,2,3,3,4,4,5,5,6,6,7,7,8,8,9,9-hexadecafluorononanoic acid  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3-bis(4-hydroxyphenyl)propionitrile  (ISO)
2,4,6-trinitrobenzenesulfonic acid  (ISO)
2,4-dinitrotoluene  (ISO)
2-hexenal  (ISO)
20-HETE  (ISO)
3',5'-cyclic AMP  (ISO)
3',5'-cyclic GMP  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
6-propyl-2-thiouracil  (ISO)
7,12-dimethyltetraphene  (ISO)
8-OH-DPAT  (ISO)
acetaldehyde  (ISO)
acetamide  (ISO)
acetylcholine  (ISO)
acrylamide  (ISO)
aflatoxin B1  (ISO)
Aflatoxin B2 alpha  (EXP)
aldehydo-D-glucose  (ISO)
aldosterone  (EXP,ISO)
all-trans-retinol  (ISO)
alprenolol  (ISO)
AM-251  (ISO)
ammonium chloride  (ISO)
apocynin  (ISO)
arachidonyl-2'-chloroethylamide  (ISO)
Aroclor 1254  (ISO)
aspartame  (EXP)
astressin 2B  (ISO)
atorvastatin calcium  (ISO)
atrazine  (ISO)
atropine  (ISO)
Aurothioglucose  (ISO)
benzo[a]pyrene  (EXP,ISO)
Benzylphosphonic acid  (ISO)
beta-hexachlorocyclohexane  (ISO)
bezafibrate  (ISO)
bis(2-chloroethyl) sulfide  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
bromocriptine  (EXP,ISO)
bucladesine  (EXP)
buspirone  (EXP)
Butylparaben  (ISO)
cadmium dichloride  (ISO)
caffeine  (ISO)
cannabidiol  (ISO)
cannabigerol  (ISO)
capsaicin  (ISO)
capsazepine  (ISO)
carbamazepine  (EXP)
celecoxib  (ISO)
CGP 52608  (EXP)
chloroquine  (ISO)
chlorpyrifos  (EXP)
cisplatin  (ISO)
citalopram  (EXP)
clofibrate  (ISO)
clonidine  (EXP,ISO)
clonidine (amino form)  (EXP,ISO)
clonidine (imino form)  (EXP,ISO)
cobalt dichloride  (ISO)
cocaine  (EXP,ISO)
colforsin daropate hydrochloride  (ISO)
cordycepin  (ISO)
corticosterone  (ISO)
cortisol  (EXP)
CP-96345(1+)  (ISO)
cyanamide  (ISO)
cycloheximide  (ISO)
cyclophosphamide  (ISO)
cyproheptadine  (EXP)
D-glucose  (ISO)
DDE  (ISO)
DDT  (EXP)
deethylatrazine  (ISO)
dehydroepiandrosterone sulfate  (EXP)
deisopropylatrazine  (ISO)
dexamethasone  (EXP,ISO)
Dibutyl phosphate  (EXP)
dichlorvos  (ISO)
diethyl hydrogen phosphate  (ISO)
dimethyl sulfoxide  (ISO)
dinitrogen oxide  (ISO)
dioxygen  (ISO)
dipentyl phthalate  (ISO)
diprotium oxide  (ISO)
disodium cromoglycate  (ISO)
disulfiram  (ISO)
dizocilpine maleate  (ISO)
dodecane  (ISO)
dopachrome  (ISO)
dopamine  (ISO)
endosulfan  (ISO)
enzacamene  (ISO)
ethanol  (EXP,ISO)
ether  (ISO)
eticlopride(1+)  (ISO)
fentanyl  (EXP)
finasteride  (EXP)
fludrocortisone  (EXP)
fluoxetine  (ISO)
fomepizole  (EXP)
formaldehyde  (ISO)
fructose  (ISO)
fulvestrant  (EXP,ISO)
gamma-hexachlorocyclohexane  (EXP)
genistein  (EXP)
gentamycin  (ISO)
glucose  (ISO)
Glutathione ethyl ester  (ISO)
glycerol  (EXP)
GTP  (EXP,ISO)
guanosine 5'-[beta,gamma-imido]triphosphate  (EXP,ISO)
halothane  (ISO)
herbicide  (ISO)
HET0016  (ISO)
imipramine  (EXP)
indometacin  (ISO)
isoprenaline  (ISO)
ketoconazole  (ISO)
lansoprazole  (EXP)
lead(0)  (EXP)
lidocaine  (ISO)
linsidomine  (ISO)
linuron  (ISO)
lipopolysaccharide  (ISO)
lithium atom  (EXP)
lithium hydride  (EXP)
loliolide  (ISO)
lycopene  (ISO)
magnesium atom  (ISO)
melanins  (ISO)
melatonin  (EXP,ISO)
metformin  (ISO)
methamidophos  (ISO)
methyl methanesulfonate  (EXP)
methylmercury chloride  (ISO)
metyrapone  (EXP,ISO)
mifepristone  (ISO)
monosodium L-glutamate  (ISO)
morphine  (EXP,ISO)
Morroniside  (ISO)
muscimol  (ISO)
N-[2-(4-bromocinnamylamino)ethyl]isoquinoline-5-sulfonamide  (ISO)
N-acetyl-L-cysteine  (ISO)
naloxone  (EXP,ISO)
Naltrindole  (ISO)
naproxen  (ISO)
nickel atom  (ISO)
nicotine  (ISO)
nitric oxide  (ISO)
nitroprusside  (ISO)
nonane  (ISO)
Nonylphenol  (ISO)
NS-398  (ISO)
olanzapine  (ISO)
Osajin  (EXP)
oxidopamine  (ISO)
paracetamol  (EXP,ISO)
Pentagastrin  (EXP)
pentobarbital  (ISO)
perfluorononanoic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
Phenoxybenzamine  (ISO)
phentolamine  (ISO)
phenylarsine oxide  (ISO)
phenylephrine  (EXP,ISO)
phenylpropanolamine  (ISO)
Pomiferin  (EXP)
potassium atom  (EXP,ISO)
prednisolone  (ISO)
prednisone  (EXP)
progesterone  (EXP,ISO)
propazine  (ISO)
propranolol  (ISO)
pyridoxal 5'-phosphate  (ISO)
quercetin  (ISO)
rabeprazole  (EXP)
reactive nitrogen species  (ISO)
reserpine  (ISO)
resveratrol  (ISO)
Rosavin  (EXP)
ruthenium red  (ISO)
sarin  (ISO)
SB 203580  (ISO)
simazine  (ISO)
sodium atom  (ISO)
sodium chloride  (EXP,ISO)
spironolactone  (ISO)
streptozocin  (ISO)
sufentanil  (EXP)
sumatriptan  (EXP,ISO)
superoxide  (ISO)
tetrachloromethane  (ISO)
tetracycline  (ISO)
theophylline  (ISO)
thimerosal  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
toluene  (ISO)
triadimefon  (ISO)
triamcinolone  (EXP)
triclosan  (EXP)
trilostane  (ISO)
triphenyl phosphate  (ISO)
triphenylstannane  (ISO)
tropan-3alpha-yl 3-hydroxy-2-phenylpropanoate  (ISO)
trovafloxacin  (ISO)
urethane  (ISO)
valproic acid  (ISO)
water  (ISO)
yohimbine  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
alfentanil pharmacodynamics pathway  (EXP)
altered energy homeostasis pathway  (TAS)
altered melanocortin system pathway  (TAS)
bupivacaine pharmacodynamics pathway  (EXP)
buprenorphine pharmacodynamics pathway  (EXP)
chloroprocaine pharmacodynamics pathway  (EXP)
citalopram pharmacodynamics pathway  (EXP)
cocaine pharmacodynamics pathway  (EXP)
codeine and morphine pharmacodynamics pathway  (EXP)
desipramine pharmacodynamics pathway  (EXP)
diphenoxylate pharmacodynamics pathway  (EXP)
escitalopram pharmacodynamics pathway  (EXP)
ethylmorphine pharmacodynamics pathway  (EXP)
fentanyl pharmacodynamics pathway  (EXP)
fluoxetine pharmacodynamics pathway  (EXP)
heroin pharmacodynamics pathway  (EXP)
hydrocodone pharmacodynamics pathway  (EXP)
hydromorphone pharmacodynamics pathway  (EXP)
imipramine pharmacodynamics pathway  (EXP)
levacetylmethadol pharmacodynamics pathway  (EXP)
levobupivacaine phgarmacodynamics pathway  (EXP)
levorphanol pharmacodynamics pathway  (EXP)
lidocaine pharmacodynamics pathway   (EXP)
melanocortin system pathway  (EXP,TAS)
mepivacaine pharmacodynamics pathway  (EXP)
methadone pharmacodynamics pathway  (EXP)
nalbuphine pharmacodynamics pathway  (EXP)
naloxone pharmacodynamics pathway  (EXP)
naltrexone pharmacodynamics pathway  (EXP)
nicotine pharmacodynamics pathway  (EXP)
obesity pathway  (TAS)
oxybuprocaine pharmacodynamics pathway  (EXP)
oxycodone pharmacodynamics pathway  (EXP)
oxymorphone pharmacodynamics pathway  (EXP)
pentazocine pharmacodynamics pathway  (EXP)
prilocaine pharmacodynamics pathway  (EXP)
procaine pharmacodynamics pathway  (EXP)
remifentanil pharmacodynamics pathway  (EXP)
ropivacaine pharmacodynamics pathway  (EXP)
syndecan signaling pathway  (EXP)
tramadol pharmacodynamics pathway  (EXP)

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Preconception Alcohol Exposure Increases the Susceptibility to Diabetes in the Offspring. Al-Yasari A, etal., Endocrinology. 2021 Jan 1;162(1):bqaa188. doi: 10.1210/endocr/bqaa188.
2. The tripeptide KdPT protects from intestinal inflammation and maintains intestinal barrier function. Bettenworth D, etal., Am J Pathol. 2011 Sep;179(3):1230-42. Epub 2011 Jul 8.
3. Obesity induces hypothalamic endoplasmic reticulum stress and impairs proopiomelanocortin (POMC) post-translational processing. Cakir I, etal., J Biol Chem. 2013 Jun 14;288(24):17675-88. doi: 10.1074/jbc.M113.475343. Epub 2013 May 2.
4. Hypothyroidism Induces Hypophagia Associated with Alterations in Protein Expression of Neuropeptide Y and Proopiomelanocortin in the Arcuate Nucleus, Independently of Hypothalamic Nuclei-Specific Changes in Leptin Signaling. Calvino C, etal., Thyroid. 2016 Jan;26(1):134-43. doi: 10.1089/thy.2015.0384. Epub 2015 Dec 1.
5. Chronic ethanol consumption impairs the circadian rhythm of pro-opiomelanocortin and period genes mRNA expression in the hypothalamus of the male rat. Chen CP, etal., J Neurochem. 2004 Mar;88(6):1547-54. doi: 10.1046/j.1471-4159.2003.02300.x.
6. Prenatal ethanol exposure alters the expression of period genes governing the circadian function of beta-endorphin neurons in the hypothalamus. Chen CP, etal., J Neurochem. 2006 May;97(4):1026-33. doi: 10.1111/j.1471-4159.2006.03839.x.
7. Proopiomelanocortin gene variants are associated with serum leptin and body fat in a normal female population. Chen Y, etal., Eur J Hum Genet. 2005 Jun;13(6):772-80.
8. Opioid system genes in alcoholism: a case-control study in Croatian population. Cupic B, etal., Neuropeptides. 2013 Oct;47(5):315-9. doi: 10.1016/j.npep.2013.08.002. Epub 2013 Aug 28.
9. Enhanced activity of the brain beta-endorphin system by free-choice ethanol drinking in C57BL/6 but not DBA/2 mice. De Waele JP and Gianoulakis C, Eur J Pharmacol. 1994 Jun 2;258(1-2):119-29. doi: 10.1016/0014-2999(94)90064-7.
10. Congenital vasopressin deficiency and acute and chronic opiate effects on hypothalamo-pituitary-adrenal axis activity in Brattleboro rats. Domokos A, etal., J Endocrinol. 2008 Jan;196(1):113-21. doi: 10.1677/JOE-07-0356.
11. Plasma levels of beta-endorphin, adrenocorticotropic hormone and cortisol during early and late alcohol withdrawal. Esel E, etal., Alcohol Alcohol. 2001 Nov-Dec;36(6):572-6. doi: 10.1093/alcalc/36.6.572.
12. Interactive comorbidity between opioid drug abuse and HIV-1 Tat: chronic exposure augments spine loss and sublethal dendritic pathology in striatal neurons. Fitting S, etal., Am J Pathol. 2010 Sep;177(3):1397-410. doi: 10.2353/ajpath.2010.090945. Epub 2010 Jul 22.
13. Hypermethylation of Proopiomelanocortin and Period 2 Genes in Blood Are Associated with Greater Subjective and Behavioral Motivation for Alcohol in Humans. Gangisetty O, etal., Alcohol Clin Exp Res. 2019 Feb;43(2):212-220. doi: 10.1111/acer.13932. Epub 2018 Dec 31.
14. Transgenerational inheritance of fetal alcohol effects on proopiomelanocortin gene expression and methylation, cortisol response to stress, and anxiety-like behaviors in offspring for three generations in rats: Evidence for male germline transmission. Gangisetty O, etal., PLoS One. 2022 Feb 10;17(2):e0263340. doi: 10.1371/journal.pone.0263340. eCollection 2022.
15. Effect of chronic morphine treatment on beta-endorphin biosynthesis by the rat neurointermediate lobe. Gianoulakis C, etal., Eur J Pharmacol. 1981 Jul 10;72(4):313-21. doi: 10.1016/0014-2999(81)90569-0.
16. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
17. Male germline transmits fetal alcohol adverse effect on hypothalamic proopiomelanocortin gene across generations. Govorko D, etal., Biol Psychiatry. 2012 Sep 1;72(5):378-88. doi: 10.1016/j.biopsych.2012.04.006. Epub 2012 May 22.
18. The expression of opioid genes in non-classical reward areas depends on early life conditions and ethanol intake. Granholm L, etal., Brain Res. 2017 Aug 1;1668:36-45. doi: 10.1016/j.brainres.2017.05.006. Epub 2017 May 13.
19. Trauma Severity in Early Childhood Correlates with Stress and Satiety Hormone Levels in a Pilot Cohort Receiving Diamorphine Maintenance Treatment. Groh A, etal., Eur Addict Res. 2020;26(2):103-108. doi: 10.1159/000505293. Epub 2020 Jan 15.
20. Hemorrhage activates proopiomelanocortin neurons in the rat hypothalamus. Göktalay G, etal., Brain Res. 2006 Jan 27;1070(1):45-55. doi: 10.1016/j.brainres.2005.11.076. Epub 2006 Jan 5.
21. Sexually dimorphic effects of alcohol exposure in utero on neuroendocrine and immune functions in chronic alcohol-exposed adult rats. Halasz I, etal., Mol Cell Neurosci. 1993 Aug;4(4):343-53. doi: 10.1006/mcne.1993.1044.
22. Antiinflammatory activity of a COOH-terminal fragment of the neuropeptide alpha-MSH. Hiltz ME and Lipton JM, FASEB J. 1989 Sep;3(11):2282-4.
23. The Interaction Between POMC rs2071345 Polymorphism and Alcohol Dependence in Anxiety Symptoms Among Chinese Male Problem Drinkers. Hong L, etal., Front Psychiatry. 2022 May 3;13:878960. doi: 10.3389/fpsyt.2022.878960. eCollection 2022.
24. In-vivo transfection of the proopiomelanocortin gene, precursor of endogenous endorphin, by use of radial shock waves alleviates neuropathic pain. Ishikawa T, etal., J Orthop Sci. 2013 Jul;18(4):636-45. doi: 10.1007/s00776-013-0397-y. Epub 2013 Apr 27.
25. Changes in hypothalamic corticotropin-releasing hormone, neuropeptide Y, and proopiomelanocortin gene expression during chronic rapid eye movement sleep deprivation of rats. Koban M, etal., Endocrinology. 2006 Jan;147(1):421-31. doi: 10.1210/en.2005-0695. Epub 2005 Oct 6.
26. Adolescent Alcohol Exposure-Induced Changes in Alpha-Melanocyte Stimulating Hormone and Neuropeptide Y Pathways via Histone Acetylation in the Brain During Adulthood. Kokare DM, etal., Int J Neuropsychopharmacol. 2017 Sep 1;20(9):758-768. doi: 10.1093/ijnp/pyx041.
27. Adolescent binge-like ethanol exposure reduces basal α-MSH expression in the hypothalamus and the amygdala of adult rats. Lerma-Cabrera JM, etal., Pharmacol Biochem Behav. 2013 Sep;110:66-74. doi: 10.1016/j.pbb.2013.06.006. Epub 2013 Jun 20.
28. B Lymphocytes Express Pomc mRNA, Processing Enzymes and β-Endorphin in Painful Inflammation. Maddila SC, etal., J Neuroimmune Pharmacol. 2017 Mar;12(1):180-186. doi: 10.1007/s11481-016-9715-4. Epub 2016 Nov 11.
29. Beta-endorphin, adrenocorticotropic hormone and cortisol secretion in abstinent alcoholics. Marchesi C, etal., Psychiatry Res. 1997 Oct 10;72(3):187-94. doi: 10.1016/s0165-1781(97)00101-7.
30. High fat diet induces hypermethylation of the hypothalamic Pomc promoter and obesity in post-weaning rats. Marco A, etal., Psychoneuroendocrinology. 2013 Dec;38(12):2844-53. doi: 10.1016/j.psyneuen.2013.07.011. Epub 2013 Aug 16.
31. Spatial and temporal localization of the melanocortin 1 receptor and its ligand alpha-melanocyte-stimulating hormone during cutaneous wound repair. Muffley LA, etal., J Histochem Cytochem. 2011 Mar;59(3):278-88. Epub 2011 Jan 12.
32. Epigenetic alterations of the POMC promoter in tobacco dependence. Muschler M, etal., Eur Neuropsychopharmacol. 2018 Jul;28(7):875-879. doi: 10.1016/j.euroneuro.2018.05.004. Epub 2018 Jun 2.
33. DNA methylation of the POMC gene promoter is associated with craving in alcohol dependence. Muschler MA, etal., J Neural Transm (Vienna). 2010 Apr;117(4):513-9. doi: 10.1007/s00702-010-0378-7. Epub 2010 Feb 27.
34. Alcohol Withdrawal and Proopiomelanocortin Neuropeptides in an Animal Model of Alcohol Dependence. Müschen LH, etal., Neuropsychobiology. 2019;78(3):118-127. doi: 10.1159/000499844. Epub 2019 May 22.
35. Decreased immunoreactivity of the melanocortin neuropeptide alpha-melanocyte-stimulating hormone (alpha-MSH) after chronic ethanol exposure in Sprague-Dawley rats. Navarro M, etal., Alcohol Clin Exp Res. 2008 Feb;32(2):266-76. doi: 10.1111/j.1530-0277.2007.00578.x. Epub 2007 Dec 21.
36. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
37. Differential Changes in Expression of Stress- and Metabolic-Related Neuropeptides in the Rat Hypothalamus during Morphine Dependence and Withdrawal. Pintér-Kübler B, etal., PLoS One. 2013 Jun 21;8(6):e67027. doi: 10.1371/journal.pone.0067027. Print 2013.
38. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
39. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
40. Pro-opiomelanocortin processing in the hypothalamus: impact on melanocortin signalling and obesity. Pritchard LE, etal., J Endocrinol 2002 Mar;172(3):411-21.
41. Exposure to uteroplacental insufficiency reduces the expression of signal transducer and activator of transcription 3 and proopiomelanocortin in the hypothalamus of newborn rats. Puglianiello A, etal., Pediatr Res. 2009 Aug;66(2):208-11. doi: 10.1203/PDR.0b013e3181a9e7fd.
42. alpha-MSH modulates experimental inflammatory bowel disease. Rajora N, etal., Peptides. 1997;18(3):381-5.
43. Chronic daily ethanol and withdrawal: 3. Forebrain pro-opiomelanocortin gene expression and implications for dependence, relapse, and deprivation effect. Rasmussen DD, etal., Alcohol Clin Exp Res. 2002 Apr;26(4):535-46.
44. Corticotropin-releasing hormone and proopiomelanocortin gene expression is altered selectively in the male rat fetal thymus by maternal alcohol consumption. Revskoy S, etal., Endocrinology. 1997 Jan;138(1):389-96. doi: 10.1210/endo.138.1.4838.
45. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
46. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
47. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
48. Decreased proopiomelanocortin mRNA in lymphocytes of chronic alcoholics after intravenous human corticotropin releasing factor injection. Rosenberger P, etal., Alcohol Clin Exp Res. 2003 Nov;27(11):1693-700. doi: 10.1097/01.ALC.0000095636.44770.55.
49. An insertional polymorphism of the proopiomelanocortin gene is associated with fasting insulin levels in childhood obesity. Santoro N, etal., J Clin Endocrinol Metab. 2004 Oct;89(10):4846-9.
50. Persistent Changes in Stress-Regulatory Genes in Pregnant Women or Children Exposed Prenatally to Alcohol. Sarkar DK, etal., Alcohol Clin Exp Res. 2019 Sep;43(9):1887-1897. doi: 10.1111/acer.14148. Epub 2019 Aug 6.
51. The critical role of the melanocortin system in the control of energy balance. Seeley RJ, etal., Annu Rev Nutr 2004;24:133-49.
52. Differential cross-tolerance development between single and repeated immobilization stress on the antinociceptive effect induced by beta-endorphin, 5-hydroxytryptamine, morphine, and WIN55,212-2 in the inflammatory mouse pain mode. Seo YJ, etal., Arch Pharm Res. 2011 Feb;34(2):269-80. Epub 2011 Mar 6.
53. Alpha-melanocyte stimulating hormone modulates ethanol self-administration in posterior ventral tegmental area through melanocortin-4 receptors. Shelkar GP, etal., Addict Biol. 2015 Mar;20(2):302-15. doi: 10.1111/adb.12126. Epub 2014 Mar 18.
54. Inhibition of cartilage damage by pro-opiomelanocortin prohormone overexpression in a rat model of osteoarthritis. Shen PC, etal., Exp Biol Med (Maywood). 2011 Mar 1;236(3):334-40. Epub 2011 Mar 4.
55. Lymphocytes upregulate signal sequence-encoding proopiomelanocortin mRNA and beta-endorphin during painful inflammation in vivo. Sitte N, etal., J Neuroimmunol. 2007 Feb;183(1-2):133-45. doi: 10.1016/j.jneuroim.2006.11.033. Epub 2007 Jan 16.
56. Increased central immunoreactive beta-endorphin content in patients with Wernicke-Korsakoff syndrome and in alcoholics. Summers JA, etal., J Clin Pathol. 1991 Feb;44(2):126-9. doi: 10.1136/jcp.44.2.126.
57. Neuroendocrine immune system in familial Mediterranean fever. Topaloglu R, etal., Turk J Pediatr. 2010 Nov-Dec;52(6):588-93.
58. The influence of neuropeptides related to pro-opiomelanocortin on acquisition of heroin self-administration of rats. van Ree JM, Life Sci. 1983 Dec 5;33(23):2283-9. doi: 10.1016/0024-3205(83)90261-8.
59. Effect of morphine on proopiomelanocortin gene expression and peptide levels in the hypothalamus. Wardlaw SL, etal., Brain Res Mol Brain Res. 1996 Sep 5;41(1-2):140-7. doi: 10.1016/0169-328x(96)00084-8.
60. Endocrine cells of the adenohypophysis in severe acute respiratory syndrome (SARS). Wei L, etal., Biochem Cell Biol. 2010 Aug;88(4):723-30. doi: 10.1139/O10-022.
61. DNA Methylation of the Leptin Gene Promoter is Altered by Chronic Alcohol Exposure in an Animal Model for Alcohol Dependence. Wieting J, etal., Eur Addict Res. 2019;25(2):49-55. doi: 10.1159/000496111. Epub 2019 Jan 16.
62. Effects of voluntary ethanol ingestion on the POMC gene expression in the rat pituitary and on the plasma beta-endorphin content. Winkler A, etal., Alcohol Alcohol. 1995 Mar;30(2):231-8.
63. Quantification of proopiomelanocortin mRNA in peripheral lymphocytes of alcoholics. Winkler A, etal., Alcohol. 1998 Jan;15(1):43-50. doi: 10.1016/s0741-8329(97)00096-7.
64. Transfection of rat cells with proopiomeranocortin gene, precursor of endogenous endorphin, using radial shock waves suppresses inflammatory pain. Yamashita M, etal., Spine (Phila Pa 1976). 2009 Oct 1;34(21):2270-7. doi: 10.1097/BRS.0b013e3181af77b4.
65. Deleted genes associated with obesity in Mexican patients diagnosed with nonalcoholic fatty liver disease. Zambrano-Zaragoza JF, etal., Ann Hum Genet. 2022 Sep;86(5):237-244. doi: 10.1111/ahg.12466. Epub 2022 Mar 28.
66. Chronic Oxycodone Self-administration Altered Reward-related Genes in the Ventral and Dorsal Striatum of C57BL/6J Mice: An RNA-seq Analysis. Zhang Y, etal., Neuroscience. 2018 Nov 21;393:333-349. doi: 10.1016/j.neuroscience.2018.07.032. Epub 2018 Jul 29.
67. Analgesic effect of different moxibustion durations in rheumatoid arthritis rats. Zheng B, etal., J Tradit Chin Med. 2014 Feb;34(1):90-5. doi: 10.1016/s0254-6272(14)60060-1.
68. Reduced hypothalamic POMC and anterior pituitary CRF1 receptor mRNA levels after acute, but not chronic, daily "binge" intragastric alcohol administration. Zhou Y, etal., Alcohol Clin Exp Res. 2000 Oct;24(10):1575-82.
69. Voluntary alcohol drinking enhances proopiomelanocortin gene expression in nucleus accumbens shell and hypothalamus of Sardinian alcohol-preferring rats. Zhou Y, etal., Alcohol Clin Exp Res. 2013 Jan;37 Suppl 1(0 1):E131-40. doi: 10.1111/j.1530-0277.2012.01867.x. Epub 2012 Jun 22.
70. Nuclear transcriptional changes in hypothalamus of Pomc enhancer knockout mice after excessive alcohol drinking. Zhou Y, etal., Genes Brain Behav. 2019 Nov;18(8):e12600. doi: 10.1111/gbb.12600. Epub 2019 Aug 8.
71. Suppression of hypothalamic-pituitary-adrenal axis by acute heroin challenge in rats during acute and chronic withdrawal from chronic heroin administration. Zhou Y, etal., Neurochem Res. 2013 Sep;38(9):1850-60. doi: 10.1007/s11064-013-1091-3. Epub 2013 Jun 16.
Additional References at PubMed
PMID:195688   PMID:1264228   PMID:1656407   PMID:2424570   PMID:2475499   PMID:2558057   PMID:2839146   PMID:3606677   PMID:4334191   PMID:4338630   PMID:4347148   PMID:4352834  
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Genomics

Comparative Map Data
POMC
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38225,160,860 - 25,168,580 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl225,160,853 - 25,168,903 (-)EnsemblGRCh38hg38GRCh38
GRCh37225,383,729 - 25,391,449 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36225,237,226 - 25,245,063 (-)NCBINCBI36Build 36hg18NCBI36
Build 34225,295,438 - 25,303,103NCBI
Celera225,224,014 - 25,231,854 (-)NCBICelera
Cytogenetic Map2p23.3NCBI
HuRef225,121,466 - 25,129,306 (-)NCBIHuRef
CHM1_1225,313,607 - 25,321,447 (-)NCBICHM1_1
T2T-CHM13v2.0225,195,313 - 25,203,034 (-)NCBIT2T-CHM13v2.0
Pomc
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39124,004,945 - 4,010,643 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl124,004,951 - 4,010,642 (+)EnsemblGRCm39 Ensembl
GRCm38123,954,945 - 3,960,643 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl123,954,951 - 3,960,642 (+)EnsemblGRCm38mm10GRCm38
MGSCv37123,954,951 - 3,960,618 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36123,954,967 - 3,960,634 (+)NCBIMGSCv36mm8
Celera123,882,694 - 3,888,357 (+)NCBICelera
Cytogenetic Map12A1.1NCBI
cM Map121.99NCBI
Pomc
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8632,659,137 - 32,665,175 (+)NCBIGRCr8
mRatBN7.2626,939,844 - 26,945,666 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl626,939,837 - 26,945,664 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx627,232,130 - 27,237,950 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0627,548,037 - 27,553,857 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0627,026,040 - 27,031,858 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0628,382,937 - 28,388,771 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl628,382,962 - 28,388,967 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0638,191,989 - 38,197,809 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4626,931,969 - 26,937,789 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1626,934,921 - 26,940,742 (+)NCBI
Celera626,415,706 - 26,421,526 (+)NCBICelera
RH 3.4 Map6117.99RGD
Cytogenetic Map6q14NCBI
Pomc
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554697,217,363 - 7,220,386 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554697,217,233 - 7,220,401 (-)NCBIChiLan1.0ChiLan1.0
POMC
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v212101,353,171 - 101,357,103 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12A101,357,136 - 101,361,068 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02A25,161,668 - 25,165,600 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12A25,258,768 - 25,266,806 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2A25,258,768 - 25,262,706 (-)Ensemblpanpan1.1panPan2
POMC
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11719,431,396 - 19,438,247 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1719,431,585 - 19,434,440 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1719,328,041 - 19,334,822 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01719,706,608 - 19,713,398 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1719,706,796 - 19,714,128 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11719,440,669 - 19,447,445 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01719,450,362 - 19,457,130 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01719,496,844 - 19,503,629 (-)NCBIUU_Cfam_GSD_1.0
Pomc
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440629263,774,289 - 63,781,377 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364937,061,587 - 7,065,109 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364937,060,747 - 7,065,276 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
POMC
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl3113,661,004 - 113,670,418 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.13113,661,712 - 113,668,558 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.23120,766,352 - 120,772,976 (+)NCBISscrofa10.2Sscrofa10.2susScr3
POMC
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11482,491,296 - 82,499,289 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1482,494,323 - 82,499,447 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604529,662,185 - 29,670,382 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Pomc
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247387,442,292 - 7,445,020 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247387,442,223 - 7,448,513 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in POMC
161 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000939.4(POMC):c.429C>G (p.His143Gln) single nucleotide variant Obesity [RCV001139995]|Obesity due to pro-opiomelanocortin deficiency [RCV001139996]|POMC-related disorder [RCV004537878]|not provided [RCV000522801] Chr2:25161456 [GRCh38]
Chr2:25384325 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.433del (p.Arg145fs) deletion Obesity due to pro-opiomelanocortin deficiency [RCV000014282] Chr2:25161452 [GRCh38]
Chr2:25384321 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_000939.4(POMC):c.-11C>A single nucleotide variant Obesity due to pro-opiomelanocortin deficiency [RCV000014283]|Obesity due to pro-opiomelanocortin deficiency [RCV002482865]|not provided [RCV003556013] Chr2:25164783 [GRCh38]
Chr2:25387652 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_000939.4(POMC):c.403_404dup (p.Lys136fs) duplication Obesity due to pro-opiomelanocortin deficiency [RCV000014285] Chr2:25161480..25161481 [GRCh38]
Chr2:25384349..25384350 [GRCh37]
Chr2:2p23.3		 pathogenic
POMC, 1-BP DEL, NT6996 deletion Obesity due to pro-opiomelanocortin deficiency [RCV000014287] Chr2:2p23.3 pathogenic
NM_001035256.2(POMC):c.297_298ins90 (p.?) insertion Obesity [RCV000723324] Chr2:25161587..25161588 [GRCh38]
Chr2:25384456..25384457 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.280AGCAGCGGC[4] (p.94SSG[4]) microsatellite Inherited obesity [RCV004559641]|Obesity due to pro-opiomelanocortin deficiency [RCV003227844]|not provided [RCV000729456] Chr2:25161587..25161588 [GRCh38]
Chr2:25384456..25384457 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.313G>T (p.Glu105Ter) single nucleotide variant Obesity due to pro-opiomelanocortin deficiency [RCV000014281] Chr2:25161572 [GRCh38]
Chr2:25384441 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_000939.4(POMC):c.706C>G (p.Arg236Gly) single nucleotide variant Obesity due to pro-opiomelanocortin deficiency [RCV000986596]|Obesity due to pro-opiomelanocortin deficiency [RCV003227601]|Obesity, early-onset, susceptibility to [RCV000014284]|POMC-related disorder [RCV004532348]|not provided [RCV000490219] Chr2:25161179 [GRCh38]
Chr2:25384048 [GRCh37]
Chr2:2p23.3		 risk factor|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000939.4(POMC):c.151A>T (p.Lys51Ter) single nucleotide variant Obesity due to pro-opiomelanocortin deficiency [RCV000014286] Chr2:25161734 [GRCh38]
Chr2:25384603 [GRCh37]
Chr2:2p23.3		 pathogenic
GRCh38/hg38 2p25.3-23.1(chr2:30141-31766749)x3 copy number gain See cases [RCV000052929] Chr2:30141..31766749 [GRCh38]
Chr2:30141..31991818 [GRCh37]
Chr2:20141..31845322 [NCBI36]
Chr2:2p25.3-23.1		 pathogenic
GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3 copy number gain See cases [RCV000052933] Chr2:66097..55570637 [GRCh38]
Chr2:66097..55797773 [GRCh37]
Chr2:56097..55651277 [NCBI36]
Chr2:2p25.3-16.1		 pathogenic
NM_001035256.2(POMC):c.20_21ins25 insertion Inborn genetic diseases [RCV000190728] Chr2:25164752..25164753 [GRCh38]
Chr2:25387621..25387622 [GRCh37]
Chr2:2p23.3		 pathogenic
GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3 copy number gain See cases [RCV000135398] Chr2:30341..28419664 [GRCh38]
Chr2:30341..28642531 [GRCh37]
Chr2:20341..28496035 [NCBI36]
Chr2:2p25.3-23.2		 pathogenic
GRCh38/hg38 2p23.3(chr2:25064306-27154398)x1 copy number loss See cases [RCV000137065] Chr2:25064306..27154398 [GRCh38]
Chr2:25287175..27377266 [GRCh37]
Chr2:25140679..27230770 [NCBI36]
Chr2:2p23.3		 uncertain significance
GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3 copy number gain See cases [RCV000137344] Chr2:17019..26318846 [GRCh38]
Chr2:17019..26541714 [GRCh37]
Chr2:7019..26395218 [NCBI36]
Chr2:2p25.3-23.3		 pathogenic
GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3 copy number gain See cases [RCV000141829] Chr2:12770..33711509 [GRCh38]
Chr2:12770..33936576 [GRCh37]
Chr2:2770..33790080 [NCBI36]
Chr2:2p25.3-22.3		 pathogenic
GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3 copy number gain See cases [RCV000141494] Chr2:7495123..87705899 [GRCh38]
Chr2:7635254..88005418 [GRCh37]
Chr2:7552705..87786533 [NCBI36]
Chr2:2p25.1-11.2		 benign
GRCh38/hg38 2p24.1-23.2(chr2:22579652-28525186)x1 copy number loss See cases [RCV000142071] Chr2:22579652..28525186 [GRCh38]
Chr2:22802524..28748053 [GRCh37]
Chr2:22656029..28601557 [NCBI36]
Chr2:2p24.1-23.2		 pathogenic
GRCh38/hg38 2p23.3(chr2:25113266-25618499)x3 copy number gain See cases [RCV000142991] Chr2:25113266..25618499 [GRCh38]
Chr2:25336135..25841368 [GRCh37]
Chr2:25189639..25694872 [NCBI36]
Chr2:2p23.3		 uncertain significance
GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3 copy number gain See cases [RCV000143682] Chr2:236816..45983232 [GRCh38]
Chr2:236816..46210371 [GRCh37]
Chr2:226816..46063875 [NCBI36]
Chr2:2p25.3-21		 pathogenic
NM_000939.4(POMC):c.641A>G (p.Glu214Gly) single nucleotide variant Obesity [RCV001142527]|POMC-related disorder [RCV004541249]|not provided [RCV000953171]|not specified [RCV000192320] Chr2:25161244 [GRCh38]
Chr2:25384113 [GRCh37]
Chr2:2p23.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000939.4(POMC):c.280AGCAGCGGC[3] (p.94SSG[3]) microsatellite Monogenic Non-Syndromic Obesity [RCV000284681]|Obesity due to pro-opiomelanocortin deficiency [RCV000376949]|not provided [RCV001640289]|not specified [RCV000194292] Chr2:25161587..25161588 [GRCh38]
Chr2:25384456..25384457 [GRCh37]
Chr2:2p23.3		 benign|likely benign
NM_001035256.2(POMC):c.-203A>G single nucleotide variant Obesity [RCV000262838]|Obesity due to pro-opiomelanocortin deficiency [RCV000356179] Chr2:25168630 [GRCh38]
Chr2:25391499 [GRCh37]
Chr2:2p23.3		 benign|uncertain significance
NM_000939.4(POMC):c.293_294insAGGCAGCGG (p.Ser98delinsArgGlySerGly) insertion not provided [RCV000722340] Chr2:25161591..25161592 [GRCh38]
Chr2:25384460..25384461 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.474G>T (p.Lys158Asn) single nucleotide variant Obesity [RCV000319956]|Obesity due to pro-opiomelanocortin deficiency [RCV000279476] Chr2:25161411 [GRCh38]
Chr2:25384280 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.*28del deletion Monogenic Non-Syndromic Obesity [RCV000275874]|Obesity due to pro-opiomelanocortin deficiency [RCV000367979] Chr2:25161053 [GRCh38]
Chr2:25383922 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.*63C>T single nucleotide variant Obesity [RCV000272308]|Obesity due to pro-opiomelanocortin deficiency [RCV000329597]|not provided [RCV001660697] Chr2:25161018 [GRCh38]
Chr2:25383887 [GRCh37]
Chr2:2p23.3		 benign|likely benign
NM_000939.4(POMC):c.585C>T (p.Ala195=) single nucleotide variant Obesity [RCV000333276]|Obesity due to pro-opiomelanocortin deficiency [RCV000371673]|not provided [RCV001683340] Chr2:25161300 [GRCh38]
Chr2:25384169 [GRCh37]
Chr2:2p23.3		 benign|likely benign
NM_000939.4(POMC):c.158A>G (p.Asp53Gly) single nucleotide variant Obesity [RCV000345346]|Obesity due to pro-opiomelanocortin deficiency [RCV000288152]|Obesity due to pro-opiomelanocortin deficiency [RCV002467762]|POMC-related disorder [RCV004530368]|not provided [RCV000902149] Chr2:25161727 [GRCh38]
Chr2:25384596 [GRCh37]
Chr2:2p23.3		 benign|likely benign|uncertain significance
NM_000939.4(POMC):c.282C>T (p.Ser94=) single nucleotide variant Obesity [RCV000404440]|Obesity due to pro-opiomelanocortin deficiency [RCV000341979]|not provided [RCV001707661] Chr2:25161603 [GRCh38]
Chr2:25384472 [GRCh37]
Chr2:2p23.3		 benign|likely benign
NM_000939.4(POMC):c.4C>T (p.Pro2Ser) single nucleotide variant Obesity [RCV000399903]|Obesity due to pro-opiomelanocortin deficiency [RCV000367787]|POMC-related disorder [RCV004735486] Chr2:25164769 [GRCh38]
Chr2:25387638 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.18C>T (p.Cys6=) single nucleotide variant Obesity [RCV000394433]|Obesity due to pro-opiomelanocortin deficiency [RCV000310805]|not provided [RCV000948593]|not specified [RCV003151034] Chr2:25164755 [GRCh38]
Chr2:25387624 [GRCh37]
Chr2:2p23.3		 benign|likely benign|uncertain significance
NM_000939.4(POMC):c.-20-906C>T single nucleotide variant Obesity [RCV000260320]|Obesity due to pro-opiomelanocortin deficiency [RCV000317819] Chr2:25165698 [GRCh38]
Chr2:25388567 [GRCh37]
Chr2:2p23.3		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_000939.4(POMC):c.-20-904T>C single nucleotide variant Obesity [RCV000314386]|Obesity due to pro-opiomelanocortin deficiency [RCV000371122] Chr2:25165696 [GRCh38]
Chr2:25388565 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.*120A>G single nucleotide variant Obesity [RCV000307847]|Obesity due to pro-opiomelanocortin deficiency [RCV000364533] Chr2:25160961 [GRCh38]
Chr2:25383830 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.20_21insGGGCCCTCGGGGGCCCCTCGGGTGG (p.Ser7fs) insertion Inborn genetic diseases [RCV000622715]|POMC-related disorder [RCV004533292] Chr2:25164752..25164753 [GRCh38]
Chr2:25387621..25387622 [GRCh37]
Chr2:2p23.3		 pathogenic|likely pathogenic
NM_000939.4(POMC):c.399C>T (p.Arg133=) single nucleotide variant not provided [RCV000598409] Chr2:25161486 [GRCh38]
Chr2:25384355 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.430T>C (p.Phe144Leu) single nucleotide variant POMC-related disorder [RCV004540066]|not provided [RCV000732529] Chr2:25161455 [GRCh38]
Chr2:25384324 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.251G>A (p.Trp84Ter) single nucleotide variant POMC-related disorder [RCV004735782]|not provided [RCV000732530] Chr2:25161634 [GRCh38]
Chr2:25384503 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_000939.4(POMC):c.55C>T (p.Gln19Ter) single nucleotide variant not provided [RCV000732531] Chr2:25164718 [GRCh38]
Chr2:25387587 [GRCh37]
Chr2:2p23.3		 likely pathogenic
NM_000939.4(POMC):c.225del (p.Lys76fs) deletion not provided [RCV000732533] Chr2:25161660 [GRCh38]
Chr2:25384529 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_000939.4(POMC):c.730G>C (p.Glu244Gln) single nucleotide variant not provided [RCV000732538] Chr2:25161155 [GRCh38]
Chr2:25384024 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.616G>T (p.Glu206Ter) single nucleotide variant not provided [RCV000438358] Chr2:25161269 [GRCh38]
Chr2:25384138 [GRCh37]
Chr2:2p23.3		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_000939.4(POMC):c.599_604dup (p.Ala201_Gln202insArgAla) duplication Obesity due to pro-opiomelanocortin deficiency [RCV004799211]|not provided [RCV000487385] Chr2:25161280..25161281 [GRCh38]
Chr2:25384149..25384150 [GRCh37]
Chr2:2p23.3		 uncertain significance
GRCh37/hg19 2p23.3(chr2:24235780-25700427)x1 copy number loss not provided [RCV000509286] Chr2:24235780..25700427 [GRCh37]
Chr2:2p23.3		 not provided
NM_000939.4(POMC):c.250T>G (p.Trp84Gly) single nucleotide variant not specified [RCV000504141] Chr2:25161635 [GRCh38]
Chr2:25384504 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.133-2A>C single nucleotide variant Obesity due to pro-opiomelanocortin deficiency [RCV000500140] Chr2:25161754 [GRCh38]
Chr2:25384623 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_000939.4(POMC):c.289A>C (p.Ser97Arg) single nucleotide variant POMC-related disorder [RCV004535609]|not specified [RCV000502370] Chr2:25161596 [GRCh38]
Chr2:25384465 [GRCh37]
Chr2:2p23.3		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
POMC, 1-BP INS, 6922C insertion Obesity due to pro-opiomelanocortin deficiency [RCV000584754] Chr2:2p23.3 pathogenic
GRCh37/hg19 2p23.3(chr2:24807000-25700000)x3 copy number gain Seizure [RCV000677197] Chr2:24807000..25700000 [GRCh37]
Chr2:2p23.3		 uncertain significance
GRCh37/hg19 2p23.3(chr2:24315204-26384655)x3 copy number gain not provided [RCV000682143] Chr2:24315204..26384655 [GRCh37]
Chr2:2p23.3		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p24.1-16.3(chr2:22665048-52850368)x3 copy number gain not provided [RCV000752875] Chr2:22665048..52850368 [GRCh37]
Chr2:2p24.1-16.3		 pathogenic
NM_000939.4(POMC):c.133-212A>G single nucleotide variant not provided [RCV001693256] Chr2:25161964 [GRCh38]
Chr2:25384833 [GRCh37]
Chr2:2p23.3		 benign
NM_000939.4(POMC):c.599G>T (p.Gly200Val) single nucleotide variant Inborn genetic diseases [RCV003268497] Chr2:25161286 [GRCh38]
Chr2:25384155 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.433C>T (p.Arg145Cys) single nucleotide variant Obesity due to pro-opiomelanocortin deficiency [RCV002501010]|POMC-related disorder [RCV000778607]|not provided [RCV003442068] Chr2:25161452 [GRCh38]
Chr2:25384321 [GRCh37]
Chr2:2p23.3		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000939.4(POMC):c.261C>A (p.Phe87Leu) single nucleotide variant Obesity [RCV001140754]|Obesity due to pro-opiomelanocortin deficiency [RCV001140755]|not provided [RCV000882548]|not specified [RCV001817082] Chr2:25161624 [GRCh38]
Chr2:25384493 [GRCh37]
Chr2:2p23.3		 benign|likely benign|uncertain significance
NM_000939.4(POMC):c.346C>T (p.Leu116=) single nucleotide variant Obesity [RCV001139999]|POMC-related disorder [RCV004541901]|not provided [RCV000903366]|not specified [RCV001818763] Chr2:25161539 [GRCh38]
Chr2:25384408 [GRCh37]
Chr2:2p23.3		 benign|likely benign
NM_000939.4(POMC):c.141C>A (p.Ile47=) single nucleotide variant not provided [RCV000918787] Chr2:25161744 [GRCh38]
Chr2:25384613 [GRCh37]
Chr2:2p23.3		 likely benign
NM_000939.4(POMC):c.84C>A (p.Cys28Ter) single nucleotide variant Obesity due to pro-opiomelanocortin deficiency [RCV000825008] Chr2:25164689 [GRCh38]
Chr2:25387558 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_000939.4(POMC):c.498C>T (p.Asp166=) single nucleotide variant Obesity [RCV001137757]|Obesity due to pro-opiomelanocortin deficiency [RCV001137756]|POMC-related disorder [RCV004734026]|not provided [RCV002556933] Chr2:25161387 [GRCh38]
Chr2:25384256 [GRCh37]
Chr2:2p23.3		 likely benign|uncertain significance
NM_000939.4(POMC):c.638C>T (p.Ala213Val) single nucleotide variant Obesity [RCV001137755]|Obesity due to pro-opiomelanocortin deficiency [RCV001142528]|POMC-related disorder [RCV004734025]|not provided [RCV003558702] Chr2:25161247 [GRCh38]
Chr2:25384116 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.416dup (p.Tyr139Ter) duplication Obesity due to pro-opiomelanocortin deficiency [RCV000825007] Chr2:25161468..25161469 [GRCh38]
Chr2:25384337..25384338 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_000939.4(POMC):c.186G>A (p.Pro62=) single nucleotide variant POMC-related disorder [RCV004735897]|not provided [RCV000937051] Chr2:25161699 [GRCh38]
Chr2:25384568 [GRCh37]
Chr2:2p23.3		 likely benign
GRCh37/hg19 2p23.3(chr2:25286991-25395829)x3 copy number gain not provided [RCV000848649] Chr2:25286991..25395829 [GRCh37]
Chr2:2p23.3		 uncertain significance
GRCh37/hg19 2p23.3(chr2:24710112-25987357)x1 copy number loss not provided [RCV001005236] Chr2:24710112..25987357 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.283A>G (p.Ser95Gly) single nucleotide variant Inborn genetic diseases [RCV004649460]|Obesity [RCV001140001]|Obesity due to pro-opiomelanocortin deficiency [RCV001140000]|Obesity due to pro-opiomelanocortin deficiency [RCV002480521]|POMC-related disorder [RCV004734027] Chr2:25161602 [GRCh38]
Chr2:25384471 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.132+329A>C single nucleotide variant not provided [RCV001670830] Chr2:25164312 [GRCh38]
Chr2:25387181 [GRCh37]
Chr2:2p23.3		 benign
GRCh37/hg19 2p23.3-21(chr2:24601818-43466284)x3 copy number gain See cases [RCV001581099] Chr2:24601818..43466284 [GRCh37]
Chr2:2p23.3-21		 pathogenic
NM_000939.4(POMC):c.-20-198_-20-197insGGT insertion not provided [RCV001682126] Chr2:25164989..25164990 [GRCh38]
Chr2:25387858..25387859 [GRCh37]
Chr2:2p23.3		 benign
GRCh37/hg19 2p23.3-21(chr2:24881528-43460021)x3 copy number gain not provided [RCV001532444] Chr2:24881528..43460021 [GRCh37]
Chr2:2p23.3-21		 likely pathogenic
NM_000939.4(POMC):c.133-84A>G single nucleotide variant not provided [RCV001678009] Chr2:25161836 [GRCh38]
Chr2:25384705 [GRCh37]
Chr2:2p23.3		 benign
NM_000939.4(POMC):c.618G>A (p.Glu206=) single nucleotide variant not provided [RCV000922957] Chr2:25161267 [GRCh38]
Chr2:25384136 [GRCh37]
Chr2:2p23.3		 likely benign
NM_000939.4(POMC):c.583G>A (p.Ala195Thr) single nucleotide variant Obesity due to pro-opiomelanocortin deficiency [RCV000986597]|Obesity due to pro-opiomelanocortin deficiency [RCV003227875]|POMC-related disorder [RCV004530957]|not provided [RCV000889361]|not specified [RCV001818652] Chr2:25161302 [GRCh38]
Chr2:25384171 [GRCh37]
Chr2:2p23.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000939.4(POMC):c.26C>T (p.Ser9Leu) single nucleotide variant Obesity due to pro-opiomelanocortin deficiency [RCV004799475]|POMC-related disorder [RCV004538547] Chr2:25164747 [GRCh38]
Chr2:25387616 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.491C>T (p.Ala164Val) single nucleotide variant Obesity [RCV001137758]|Obesity due to pro-opiomelanocortin deficiency [RCV001137759]|Obesity due to pro-opiomelanocortin deficiency [RCV002482261] Chr2:25161394 [GRCh38]
Chr2:25384263 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.116C>T (p.Thr39Met) single nucleotide variant Obesity [RCV001140756]|Obesity due to pro-opiomelanocortin deficiency [RCV001140757]|POMC-related disorder [RCV004538362]|not provided [RCV004694872] Chr2:25164657 [GRCh38]
Chr2:25387526 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.801G>A (p.Glu267=) single nucleotide variant Obesity [RCV001142522]|Obesity due to pro-opiomelanocortin deficiency [RCV001142521]|POMC-related disorder [RCV004545082] Chr2:25161084 [GRCh38]
Chr2:25383953 [GRCh37]
Chr2:2p23.3		 likely benign|uncertain significance
NM_000939.4(POMC):c.662A>G (p.Tyr221Cys) single nucleotide variant Obesity [RCV001142524]|Obesity due to pro-opiomelanocortin deficiency [RCV001142523]|POMC-related disorder [RCV004528394]|not provided [RCV001759902] Chr2:25161223 [GRCh38]
Chr2:25384092 [GRCh37]
Chr2:2p23.3		 likely benign|uncertain significance
NM_000939.4(POMC):c.642G>A (p.Glu214=) single nucleotide variant Obesity [RCV001142525]|Obesity due to pro-opiomelanocortin deficiency [RCV001142526] Chr2:25161243 [GRCh38]
Chr2:25384112 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001035256.2(POMC):c.-263C>A single nucleotide variant Obesity [RCV001137865]|Obesity due to pro-opiomelanocortin deficiency [RCV001137864] Chr2:25168690 [GRCh38]
Chr2:25391559 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.394C>G (p.Pro132Ala) single nucleotide variant Obesity [RCV001139998]|Obesity due to pro-opiomelanocortin deficiency [RCV001139997]|POMC-related disorder [RCV004538359]|not provided [RCV001580566]|not specified [RCV001819845] Chr2:25161491 [GRCh38]
Chr2:25384360 [GRCh37]
Chr2:2p23.3		 conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_000939.4(POMC):c.573del (p.Asp192fs) deletion POMC-related disorder [RCV004531735] Chr2:25161312 [GRCh38]
Chr2:25384181 [GRCh37]
Chr2:2p23.3		 pathogenic|uncertain significance
NM_000939.4(POMC):c.297_298insA (p.Ala100fs) insertion not provided [RCV003238654] Chr2:25161587..25161588 [GRCh38]
Chr2:25384456..25384457 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.221C>A (p.Pro74His) single nucleotide variant not provided [RCV001768354] Chr2:25161664 [GRCh38]
Chr2:25384533 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.169G>A (p.Glu57Lys) single nucleotide variant POMC-related disorder [RCV004734267]|not provided [RCV001776963] Chr2:25161716 [GRCh38]
Chr2:25384585 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.34del (p.Leu12fs) deletion not provided [RCV001817904] Chr2:25164739 [GRCh38]
Chr2:25387608 [GRCh37]
Chr2:2p23.3		 pathogenic
GRCh37/hg19 2p23.3(chr2:25380572-25524722)x1 copy number loss not provided [RCV001827618] Chr2:25380572..25524722 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.434G>A (p.Arg145His) single nucleotide variant Obesity due to pro-opiomelanocortin deficiency [RCV002490040]|POMC-related disorder [RCV004734308]|not provided [RCV001874388] Chr2:25161451 [GRCh38]
Chr2:25384320 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.180del (p.Met60fs) deletion Obesity [RCV001823844] Chr2:25161705 [GRCh38]
Chr2:25384574 [GRCh37]
Chr2:2p23.3		 likely pathogenic
NC_000002.11:g.(?_24443763)_(27746306_?)dup duplication Short-rib thoracic dysplasia 10 with or without polydactyly [RCV001911738] Chr2:24443763..27746306 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.255C>G (p.Asp85Glu) single nucleotide variant POMC-related disorder [RCV004538632]|not provided [RCV001957555] Chr2:25161630 [GRCh38]
Chr2:25384499 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.285_286insAGCAGCAGCGGCAGCAGC (p.94_95S[5]GSS[1]) microsatellite not provided [RCV001903187] Chr2:25161599..25161600 [GRCh38]
Chr2:25384468..25384469 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.314A>G (p.Glu105Gly) single nucleotide variant not provided [RCV002224167] Chr2:25161571 [GRCh38]
Chr2:25384440 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.798C>T (p.Gly266=) single nucleotide variant not provided [RCV002210064] Chr2:25161087 [GRCh38]
Chr2:25383956 [GRCh37]
Chr2:2p23.3		 likely benign
NM_000939.4(POMC):c.499G>T (p.Glu167Ter) single nucleotide variant not provided [RCV002224413] Chr2:25161386 [GRCh38]
Chr2:25384255 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.144G>C (p.Arg48=) single nucleotide variant not provided [RCV002081576] Chr2:25161741 [GRCh38]
Chr2:25384610 [GRCh37]
Chr2:2p23.3		 likely benign
NM_000939.4(POMC):c.285C>T (p.Ser95=) single nucleotide variant POMC-related disorder [RCV004734473]|not provided [RCV002176075] Chr2:25161600 [GRCh38]
Chr2:25384469 [GRCh37]
Chr2:2p23.3		 likely benign
NC_000002.11:g.(?_24443763)_(26029226_?)del deletion Tatton-Brown-Rahman overgrowth syndrome [RCV003113869] Chr2:24443763..26029226 [GRCh37]
Chr2:2p23.3		 pathogenic
NC_000002.11:g.(?_24443763)_(29022169_?)dup duplication Tatton-Brown-Rahman overgrowth syndrome [RCV003113871]|not provided [RCV003113870] Chr2:24443763..29022169 [GRCh37]
Chr2:2p23.3-23.2		 uncertain significance|no classifications from unflagged records
NC_000002.11:g.(?_24443763)_(30143525_?)dup duplication not provided [RCV003113441] Chr2:24443763..30143525 [GRCh37]
Chr2:2p23.3-23.1		 uncertain significance
NC_000002.11:g.(?_25383950)_(25523132_?)del deletion Tatton-Brown-Rahman overgrowth syndrome [RCV003122365]|not provided [RCV003122366] Chr2:25383950..25523132 [GRCh37]
Chr2:2p23.3		 pathogenic|uncertain significance|no classifications from unflagged records
GRCh37/hg19 2p24.1-23.3(chr2:22439520-25608211)x1 copy number loss 2p24.1p23.3 microdeletion syndrome [RCV002247168] Chr2:22439520..25608211 [GRCh37]
Chr2:2p24.1-23.3		 pathogenic|likely pathogenic
GRCh37/hg19 2p23.3(chr2:24653863-25574264)x1 copy number loss not provided [RCV002265531] Chr2:24653863..25574264 [GRCh37]
Chr2:2p23.3		 not provided
NM_000939.4(POMC):c.-21+1G>A single nucleotide variant Obesity due to pro-opiomelanocortin deficiency [RCV002285116] Chr2:25168497 [GRCh38]
Chr2:25391366 [GRCh37]
Chr2:2p23.3		 pathogenic
GRCh37/hg19 2p23.3(chr2:24641638-26473160)x1 copy number loss Tatton-Brown-Rahman overgrowth syndrome [RCV002276513] Chr2:24641638..26473160 [GRCh37]
Chr2:2p23.3		 not provided
GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1 copy number loss See cases [RCV002287563] Chr2:11504318..111365996 [GRCh37]
Chr2:2p25.1-q13		 pathogenic
GRCh37/hg19 2p23.3(chr2:25163058-25461523)x3 copy number gain not provided [RCV002473449] Chr2:25163058..25461523 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.389C>T (p.Pro130Leu) single nucleotide variant Inborn genetic diseases [RCV003287394] Chr2:25161496 [GRCh38]
Chr2:25384365 [GRCh37]
Chr2:2p23.3		 uncertain significance
GRCh37/hg19 2p25.3-22.3(chr2:706460-35523639)x3 copy number gain not provided [RCV002473946] Chr2:706460..35523639 [GRCh37]
Chr2:2p25.3-22.3		 pathogenic
NM_000939.4(POMC):c.334G>T (p.Asp112Tyr) single nucleotide variant Inborn genetic diseases [RCV002777220] Chr2:25161551 [GRCh38]
Chr2:25384420 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.280A>G (p.Ser94Gly) single nucleotide variant Inborn genetic diseases [RCV004654081]|POMC-related disorder [RCV004536525]|not provided [RCV002996177] Chr2:25161605 [GRCh38]
Chr2:25384474 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.74G>A (p.Arg25His) single nucleotide variant Inborn genetic diseases [RCV002794113]|POMC-related disorder [RCV004540601] Chr2:25164699 [GRCh38]
Chr2:25387568 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.299C>G (p.Ala100Gly) single nucleotide variant POMC-related disorder [RCV004736196]|not provided [RCV002730241] Chr2:25161586 [GRCh38]
Chr2:25384455 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.557G>A (p.Arg186Gln) single nucleotide variant POMC-related disorder [RCV004536403]|not provided [RCV002756899] Chr2:25161328 [GRCh38]
Chr2:25384197 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.280AGCAGCGGC[11] (p.Gly99_Ala100insSerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGly) microsatellite not provided [RCV003100213] Chr2:25161587..25161588 [GRCh38]
Chr2:25384456..25384457 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.693G>A (p.Pro231=) single nucleotide variant not provided [RCV002638975] Chr2:25161192 [GRCh38]
Chr2:25384061 [GRCh37]
Chr2:2p23.3		 likely benign
NM_000939.4(POMC):c.416A>G (p.Tyr139Cys) single nucleotide variant not provided [RCV002510232] Chr2:25161469 [GRCh38]
Chr2:25384338 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.716G>A (p.Gly239Asp) single nucleotide variant not provided [RCV002998884] Chr2:25161169 [GRCh38]
Chr2:25384038 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.442A>G (p.Lys148Glu) single nucleotide variant Inborn genetic diseases [RCV002767775]|POMC-related disorder [RCV004736290] Chr2:25161443 [GRCh38]
Chr2:25384312 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.745C>T (p.Pro249Ser) single nucleotide variant POMC-related disorder [RCV004736223]|not provided [RCV002957415] Chr2:25161140 [GRCh38]
Chr2:25384009 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.283_284delinsCC (p.Ser95Pro) indel not provided [RCV003043520] Chr2:25161601..25161602 [GRCh38]
Chr2:25384470..25384471 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.599G>A (p.Gly200Glu) single nucleotide variant not provided [RCV002811458] Chr2:25161286 [GRCh38]
Chr2:25384155 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.271A>C (p.Asn91His) single nucleotide variant Inborn genetic diseases [RCV002836218] Chr2:25161614 [GRCh38]
Chr2:25384483 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.274AGC[7] (p.Ser95_Gly96insSerSerSer) microsatellite not provided [RCV002937820] Chr2:25161599..25161600 [GRCh38]
Chr2:25384468..25384469 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.310C>A (p.Arg104Ser) single nucleotide variant Inborn genetic diseases [RCV002835905] Chr2:25161575 [GRCh38]
Chr2:25384444 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.176C>T (p.Pro59Leu) single nucleotide variant POMC-related disorder [RCV004536579]|not provided [RCV003061531] Chr2:25161709 [GRCh38]
Chr2:25384578 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.147C>T (p.Ala49=) single nucleotide variant POMC-related disorder [RCV004534148]|not provided [RCV002634768] Chr2:25161738 [GRCh38]
Chr2:25384607 [GRCh37]
Chr2:2p23.3		 likely benign
NM_000939.4(POMC):c.280AGCAGCGGC[12] (p.Gly99_Ala100insSerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGly) microsatellite not provided [RCV003067205] Chr2:25161587..25161588 [GRCh38]
Chr2:25384456..25384457 [GRCh37]
Chr2:2p23.3		 uncertain significance
GRCh37/hg19 2p23.3(chr2:24962301-26257604)x1 copy number loss not provided [RCV003223075] Chr2:24962301..26257604 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.-21+8C>A single nucleotide variant Inherited obesity [RCV003228568] Chr2:25168490 [GRCh38]
Chr2:25391359 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.710A>G (p.Tyr237Cys) single nucleotide variant not provided [RCV003228298] Chr2:25161175 [GRCh38]
Chr2:25384044 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.73C>T (p.Arg25Cys) single nucleotide variant Inherited obesity [RCV003322665]|POMC-related disorder [RCV004736334] Chr2:25164700 [GRCh38]
Chr2:25387569 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.-20-675A>G single nucleotide variant Obesity due to pro-opiomelanocortin deficiency [RCV003336011] Chr2:25165467 [GRCh38]
Chr2:25388336 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.518C>G (p.Pro173Arg) single nucleotide variant Inborn genetic diseases [RCV003374602] Chr2:25161367 [GRCh38]
Chr2:25384236 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.125A>G (p.Asn42Ser) single nucleotide variant POMC-related disorder [RCV004531760] Chr2:25164648 [GRCh38]
Chr2:25387517 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.284G>A (p.Ser95Asn) single nucleotide variant POMC-related disorder [RCV004534346] Chr2:25161601 [GRCh38]
Chr2:25384470 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.112A>T (p.Thr38Ser) single nucleotide variant POMC-related disorder [RCV004528583] Chr2:25164661 [GRCh38]
Chr2:25387530 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.272A>G (p.Asn91Ser) single nucleotide variant POMC-related disorder [RCV004531681] Chr2:25161613 [GRCh38]
Chr2:25384482 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.244T>G (p.Phe82Val) single nucleotide variant POMC-related disorder [RCV004534348] Chr2:25161641 [GRCh38]
Chr2:25384510 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.100T>C (p.Cys34Arg) single nucleotide variant POMC-related disorder [RCV004529728] Chr2:25164673 [GRCh38]
Chr2:25387542 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.198C>G (p.Asp66Glu) single nucleotide variant POMC-related disorder [RCV004531703] Chr2:25161687 [GRCh38]
Chr2:25384556 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.668T>C (p.Met223Thr) single nucleotide variant POMC-related disorder [RCV004529706] Chr2:25161217 [GRCh38]
Chr2:25384086 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.117G>A (p.Thr39=) single nucleotide variant POMC-related disorder [RCV004531698] Chr2:25164656 [GRCh38]
Chr2:25387525 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.602C>T (p.Ala201Val) single nucleotide variant POMC-related disorder [RCV004531716] Chr2:25161283 [GRCh38]
Chr2:25384152 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.626T>C (p.Leu209Pro) single nucleotide variant POMC-related disorder [RCV004531693] Chr2:25161259 [GRCh38]
Chr2:25384128 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.492C>T (p.Ala164=) single nucleotide variant POMC-related disorder [RCV004723530]|not provided [RCV003877088] Chr2:25161393 [GRCh38]
Chr2:25384262 [GRCh37]
Chr2:2p23.3		 likely benign
NM_000939.4(POMC):c.427C>T (p.His143Tyr) single nucleotide variant not provided [RCV003839203] Chr2:25161458 [GRCh38]
Chr2:25384327 [GRCh37]
Chr2:2p23.3		 likely benign
NM_000939.4(POMC):c.48del (p.Leu16fs) deletion not provided [RCV003842159] Chr2:25164725 [GRCh38]
Chr2:25387594 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_000939.4(POMC):c.143G>A (p.Arg48Gln) single nucleotide variant POMC-related disorder [RCV004536849]|not provided [RCV003553804] Chr2:25161742 [GRCh38]
Chr2:25384611 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.133-19C>T single nucleotide variant not provided [RCV003854301] Chr2:25161771 [GRCh38]
Chr2:25384640 [GRCh37]
Chr2:2p23.3		 likely benign
NM_000939.4(POMC):c.234C>A (p.Val78=) single nucleotide variant POMC-related disorder [RCV004736421]|not provided [RCV003862757] Chr2:25161651 [GRCh38]
Chr2:25384520 [GRCh37]
Chr2:2p23.3		 likely benign
NM_000939.4(POMC):c.11C>T (p.Ser4Leu) single nucleotide variant Inborn genetic diseases [RCV004514586]|POMC-related disorder [RCV004736440] Chr2:25164762 [GRCh38]
Chr2:25387631 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.383C>T (p.Ala128Val) single nucleotide variant Inborn genetic diseases [RCV004514587] Chr2:25161502 [GRCh38]
Chr2:25384371 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.557G>T (p.Arg186Leu) single nucleotide variant Inborn genetic diseases [RCV004514588] Chr2:25161328 [GRCh38]
Chr2:25384197 [GRCh37]
Chr2:2p23.3		 uncertain significance
GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3 copy number gain See cases [RCV004442780] Chr2:12771..35541353 [GRCh37]
Chr2:2p25.3-22.3		 pathogenic
NM_000939.4(POMC):c.312C>T (p.Arg104=) single nucleotide variant POMC-related disorder [RCV004542508] Chr2:25161573 [GRCh38]
Chr2:25384442 [GRCh37]
Chr2:2p23.3		 likely benign
NM_000939.4(POMC):c.138C>T (p.Cys46=) single nucleotide variant POMC-related disorder [RCV004545516] Chr2:25161747 [GRCh38]
Chr2:25384616 [GRCh37]
Chr2:2p23.3		 likely benign
NM_000939.4(POMC):c.12G>T (p.Ser4=) single nucleotide variant POMC-related disorder [RCV004542562] Chr2:25164761 [GRCh38]
Chr2:25387630 [GRCh37]
Chr2:2p23.3		 likely benign
NM_000939.4(POMC):c.795G>A (p.Lys265=) single nucleotide variant POMC-related disorder [RCV004531905] Chr2:25161090 [GRCh38]
Chr2:25383959 [GRCh37]
Chr2:2p23.3		 likely benign
NM_000939.4(POMC):c.260del (p.Phe87fs) deletion POMC-related disorder [RCV004532185] Chr2:25161625 [GRCh38]
Chr2:25384494 [GRCh37]
Chr2:2p23.3		 likely pathogenic
NM_000939.4(POMC):c.523G>C (p.Glu175Gln) single nucleotide variant POMC-related disorder [RCV004532215] Chr2:25161362 [GRCh38]
Chr2:25384231 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.285_286insAGCAGCAGCGGCAGCAGCGGCAGCAGC (p.Ser95_Gly96insSerSerSerGlySerSerGlySerSer) microsatellite POMC-related disorder [RCV004539222] Chr2:25161599..25161600 [GRCh38]
Chr2:25384468..25384469 [GRCh37]
Chr2:2p23.3		 benign
NM_000939.4(POMC):c.132+4C>T single nucleotide variant POMC-related disorder [RCV004542351] Chr2:25164637 [GRCh38]
Chr2:25387506 [GRCh37]
Chr2:2p23.3		 likely benign
NM_000939.4(POMC):c.504G>C (p.Ser168=) single nucleotide variant POMC-related disorder [RCV004540948] Chr2:25161381 [GRCh38]
Chr2:25384250 [GRCh37]
Chr2:2p23.3		 likely benign
NM_000939.4(POMC):c.643AAG[1] (p.Lys216del) microsatellite POMC-related disorder [RCV004531786] Chr2:25161237..25161239 [GRCh38]
Chr2:25384106..25384108 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.429C>T (p.His143=) single nucleotide variant POMC-related disorder [RCV004540964] Chr2:25161456 [GRCh38]
Chr2:25384325 [GRCh37]
Chr2:2p23.3		 likely benign
NM_000939.4(POMC):c.136T>C (p.Cys46Arg) single nucleotide variant POMC-related disorder [RCV004531784] Chr2:25161749 [GRCh38]
Chr2:25384618 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.12G>A (p.Ser4=) single nucleotide variant POMC-related disorder [RCV004539346] Chr2:25164761 [GRCh38]
Chr2:25387630 [GRCh37]
Chr2:2p23.3		 likely benign
NM_000939.4(POMC):c.729C>T (p.Ser243=) single nucleotide variant POMC-related disorder [RCV004540867] Chr2:25161156 [GRCh38]
Chr2:25384025 [GRCh37]
Chr2:2p23.3		 likely benign
NM_000939.4(POMC):c.22C>T (p.Arg8Cys) single nucleotide variant POMC-related disorder [RCV004542381] Chr2:25164751 [GRCh38]
Chr2:25387620 [GRCh37]
Chr2:2p23.3		 uncertain significance
NC_000002.11:g.(?_24443763)_(26068452_?)dup duplication Tatton-Brown-Rahman overgrowth syndrome [RCV004583687] Chr2:24443763..26068452 [GRCh37]
Chr2:2p23.3		 uncertain significance
NC_000002.11:g.(?_24443763)_(25536853_?)del deletion Tatton-Brown-Rahman overgrowth syndrome [RCV004583685] Chr2:24443763..25536853 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_000939.4(POMC):c.286G>T (p.Gly96Cys) single nucleotide variant POMC-related disorder [RCV004735210] Chr2:25161599 [GRCh38]
Chr2:25384468 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.756G>T (p.Thr252=) single nucleotide variant POMC-related disorder [RCV004735258] Chr2:25161129 [GRCh38]
Chr2:25383998 [GRCh37]
Chr2:2p23.3		 likely benign
NM_000939.4(POMC):c.327G>T (p.Ala109=) single nucleotide variant POMC-related disorder [RCV004735457] Chr2:25161558 [GRCh38]
Chr2:25384427 [GRCh37]
Chr2:2p23.3		 likely benign
NM_000939.4(POMC):c.116C>A (p.Thr39Lys) single nucleotide variant POMC-related disorder [RCV004735968] Chr2:25164657 [GRCh38]
Chr2:25387526 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.425A>G (p.Glu142Gly) single nucleotide variant POMC-related disorder [RCV004736531] Chr2:25161460 [GRCh38]
Chr2:25384329 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.296del (p.Gly99fs) deletion POMC-related disorder [RCV004735087] Chr2:25161589 [GRCh38]
Chr2:25384458 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_000939.4(POMC):c.755C>T (p.Thr252Met) single nucleotide variant POMC-related disorder [RCV004735137] Chr2:25161130 [GRCh38]
Chr2:25383999 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.282C>G (p.Ser94Arg) single nucleotide variant POMC-related disorder [RCV004735265] Chr2:25161603 [GRCh38]
Chr2:25384472 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.516C>T (p.Phe172=) single nucleotide variant POMC-related disorder [RCV004735359] Chr2:25161369 [GRCh38]
Chr2:25384238 [GRCh37]
Chr2:2p23.3		 likely benign
NM_000939.4(POMC):c.168C>T (p.Ala56=) single nucleotide variant POMC-related disorder [RCV004736033] Chr2:25161717 [GRCh38]
Chr2:25384586 [GRCh37]
Chr2:2p23.3		 likely benign
NM_000939.4(POMC):c.286_291dup (p.Ser97_Ser98insGlySer) duplication POMC-related disorder [RCV004736519] Chr2:25161593..25161594 [GRCh38]
Chr2:25384462..25384463 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.132+5G>A single nucleotide variant POMC-related disorder [RCV004735009] Chr2:25164636 [GRCh38]
Chr2:25387505 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.158A>C (p.Asp53Ala) single nucleotide variant POMC-related disorder [RCV004735047] Chr2:25161727 [GRCh38]
Chr2:25384596 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.10T>C (p.Ser4Pro) single nucleotide variant POMC-related disorder [RCV004735379] Chr2:25164763 [GRCh38]
Chr2:25387632 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.127C>T (p.Leu43=) single nucleotide variant POMC-related disorder [RCV004735995] Chr2:25164646 [GRCh38]
Chr2:25387515 [GRCh37]
Chr2:2p23.3		 likely benign
NM_000939.4(POMC):c.165G>A (p.Ser55=) single nucleotide variant POMC-related disorder [RCV004736052] Chr2:25161720 [GRCh38]
Chr2:25384589 [GRCh37]
Chr2:2p23.3		 likely benign
NM_000939.4(POMC):c.663C>T (p.Tyr221=) single nucleotide variant POMC-related disorder [RCV004736471] Chr2:25161222 [GRCh38]
Chr2:25384091 [GRCh37]
Chr2:2p23.3		 likely benign
NM_000939.4(POMC):c.*10G>T single nucleotide variant POMC-related disorder [RCV004727915] Chr2:25161071 [GRCh38]
Chr2:25383940 [GRCh37]
Chr2:2p23.3		 likely benign
NM_000939.4(POMC):c.239G>T (p.Gly80Val) single nucleotide variant POMC-related disorder [RCV004730236] Chr2:25161646 [GRCh38]
Chr2:25384515 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.343C>G (p.Pro115Ala) single nucleotide variant POMC-related disorder [RCV004726469] Chr2:25161542 [GRCh38]
Chr2:25384411 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.692C>T (p.Pro231Leu) single nucleotide variant POMC-related disorder [RCV004735076] Chr2:25161193 [GRCh38]
Chr2:25384062 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.302G>C (p.Gly101Ala) single nucleotide variant POMC-related disorder [RCV004735289] Chr2:25161583 [GRCh38]
Chr2:25384452 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.434G>T (p.Arg145Leu) single nucleotide variant POMC-related disorder [RCV004735420] Chr2:25161451 [GRCh38]
Chr2:25384320 [GRCh37]
Chr2:2p23.3		 likely pathogenic
NM_000939.4(POMC):c.*2G>A single nucleotide variant POMC-related disorder [RCV004736055] Chr2:25161079 [GRCh38]
Chr2:25383948 [GRCh37]
Chr2:2p23.3		 likely benign
NM_000939.4(POMC):c.231C>T (p.Tyr77=) single nucleotide variant POMC-related disorder [RCV004736091] Chr2:25161654 [GRCh38]
Chr2:25384523 [GRCh37]
Chr2:2p23.3		 likely benign
NM_000939.4(POMC):c.462G>C (p.Arg154=) single nucleotide variant POMC-related disorder [RCV004736140] Chr2:25161423 [GRCh38]
Chr2:25384292 [GRCh37]
Chr2:2p23.3		 likely benign
NM_000939.4(POMC):c.675C>T (p.His225=) single nucleotide variant POMC-related disorder [RCV004736085] Chr2:25161210 [GRCh38]
Chr2:25384079 [GRCh37]
Chr2:2p23.3		 likely benign
NM_000939.4(POMC):c.29G>A (p.Gly10Glu) single nucleotide variant POMC-related disorder [RCV004736589] Chr2:25164744 [GRCh38]
Chr2:25387613 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.321C>T (p.Val107=) single nucleotide variant POMC-related disorder [RCV004729890] Chr2:25161564 [GRCh38]
Chr2:25384433 [GRCh37]
Chr2:2p23.3		 likely benign
NM_000939.4(POMC):c.379G>T (p.Gly127Cys) single nucleotide variant POMC-related disorder [RCV004735128] Chr2:25161506 [GRCh38]
Chr2:25384375 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.178_222dup (p.Pro74_Arg75insMetPheProGlyAsnGlyAspGluGlnProLeuThrGluAsnPro) duplication POMC-related disorder [RCV004735992] Chr2:25161662..25161663 [GRCh38]
Chr2:25384531..25384532 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.403G>A (p.Gly135Ser) single nucleotide variant POMC-related disorder [RCV004736070] Chr2:25161482 [GRCh38]
Chr2:25384351 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.556C>T (p.Arg186Trp) single nucleotide variant POMC-related disorder [RCV004736544] Chr2:25161329 [GRCh38]
Chr2:25384198 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.277A>G (p.Ser93Gly) single nucleotide variant POMC-related disorder [RCV004735032] Chr2:25161608 [GRCh38]
Chr2:25384477 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.276C>T (p.Ser92=) single nucleotide variant POMC-related disorder [RCV004735077] Chr2:25161609 [GRCh38]
Chr2:25384478 [GRCh37]
Chr2:2p23.3		 likely benign
NM_000939.4(POMC):c.635C>T (p.Ala212Val) single nucleotide variant POMC-related disorder [RCV004735336] Chr2:25161250 [GRCh38]
Chr2:25384119 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.318C>T (p.Asp106=) single nucleotide variant POMC-related disorder [RCV004736017] Chr2:25161567 [GRCh38]
Chr2:25384436 [GRCh37]
Chr2:2p23.3		 likely benign
NM_000939.4(POMC):c.199G>A (p.Glu67Lys) single nucleotide variant POMC-related disorder [RCV004728055] Chr2:25161686 [GRCh38]
Chr2:25384555 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.229T>G (p.Tyr77Asp) single nucleotide variant POMC-related disorder [RCV004735035] Chr2:25161656 [GRCh38]
Chr2:25384525 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.104A>G (p.Gln35Arg) single nucleotide variant POMC-related disorder [RCV004735124] Chr2:25164669 [GRCh38]
Chr2:25387538 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.27G>A (p.Ser9=) single nucleotide variant POMC-related disorder [RCV004735189] Chr2:25164746 [GRCh38]
Chr2:25387615 [GRCh37]
Chr2:2p23.3		 likely benign
NM_000939.4(POMC):c.5C>T (p.Pro2Leu) single nucleotide variant POMC-related disorder [RCV004735278] Chr2:25164768 [GRCh38]
Chr2:25387637 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.740del (p.Gln247fs) deletion POMC-related disorder [RCV004735292] Chr2:25161145 [GRCh38]
Chr2:25384014 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.226A>C (p.Lys76Gln) single nucleotide variant POMC-related disorder [RCV004735399] Chr2:25161659 [GRCh38]
Chr2:25384528 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.272_280dup (p.Ser93_Ser94insAsnSerSer) duplication POMC-related disorder [RCV004735317] Chr2:25161604..25161605 [GRCh38]
Chr2:25384473..25384474 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.280AGCAGCGGC[1] (p.94SSG[1]) microsatellite POMC-related disorder [RCV004736015] Chr2:25161588..25161596 [GRCh38]
Chr2:25384457..25384465 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.534G>A (p.Arg178=) single nucleotide variant POMC-related disorder [RCV004736044] Chr2:25161351 [GRCh38]
Chr2:25384220 [GRCh37]
Chr2:2p23.3		 likely benign
NM_000939.4(POMC):c.49C>T (p.Leu17=) single nucleotide variant POMC-related disorder [RCV004736144] Chr2:25164724 [GRCh38]
Chr2:25387593 [GRCh37]
Chr2:2p23.3		 likely benign
NM_000939.4(POMC):c.111C>G (p.Leu37=) single nucleotide variant POMC-related disorder [RCV004736088] Chr2:25164662 [GRCh38]
Chr2:25387531 [GRCh37]
Chr2:2p23.3		 likely benign
NM_000939.4(POMC):c.516C>G (p.Phe172Leu) single nucleotide variant POMC-related disorder [RCV004736090] Chr2:25161369 [GRCh38]
Chr2:25384238 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.477_478dup (p.Tyr160fs) microsatellite POMC-related disorder [RCV004736542] Chr2:25161406..25161407 [GRCh38]
Chr2:25384275..25384276 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.357C>T (p.Gly119=) single nucleotide variant POMC-related disorder [RCV004736530] Chr2:25161528 [GRCh38]
Chr2:25384397 [GRCh37]
Chr2:2p23.3		 likely benign
NM_000939.4(POMC):c.629T>C (p.Leu210Pro) single nucleotide variant POMC-related disorder [RCV004736641] Chr2:25161256 [GRCh38]
Chr2:25384125 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_000939.4(POMC):c.502T>C (p.Ser168Pro) single nucleotide variant POMC-related disorder [RCV004726406] Chr2:25161383 [GRCh38]
Chr2:25384252 [GRCh37]
Chr2:2p23.3		 uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR488hsa-miR-488-3pMirtarbaseexternal_infoLuciferase reporter assay//MicroarrayFunctional MTI21168126

Predicted Target Of
Summary Value
Count of predictions:1953
Count of miRNA genes:522
Interacting mature miRNAs:582
Transcripts:ENST00000264708, ENST00000380794, ENST00000395826, ENST00000405623, ENST00000449220
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407018507GWAS667483_Hbody mass index QTL GWAS667483 (human)1e-11body mass indexbody mass index (BMI) (CMO:0000105)22516261625162617Human

Markers in Region
RH79890  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37225,383,760 - 25,383,958UniSTSGRCh37
Build 36225,237,264 - 25,237,462RGDNCBI36
Celera225,224,052 - 25,224,250RGD
Cytogenetic Map2p23.3UniSTS
HuRef225,121,504 - 25,121,702UniSTS
GeneMap99-GB4 RH Map2128.2UniSTS
GDB:181256  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37225,385,671 - 25,386,263UniSTSGRCh37
Build 36225,239,175 - 25,239,767RGDNCBI36
Celera225,225,963 - 25,226,555RGD
Cytogenetic Map2p23.3UniSTS
HuRef225,123,415 - 25,124,007UniSTS
PMC310777P14  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37225,391,616 - 25,391,891UniSTSGRCh37
Build 36225,245,120 - 25,245,395RGDNCBI36
Celera225,231,911 - 25,232,186RGD
Cytogenetic Map2p23.3UniSTS
HuRef225,129,363 - 25,129,638UniSTS
PMC310777P15  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37225,383,974 - 25,384,122UniSTSGRCh37
Build 36225,237,478 - 25,237,626RGDNCBI36
Celera225,224,266 - 25,224,414RGD
Cytogenetic Map2p23.3UniSTS
HuRef225,121,718 - 25,121,866UniSTS
PMC314306P6  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37225,384,162 - 25,384,423UniSTSGRCh37
Build 36225,237,666 - 25,237,927RGDNCBI36
Celera225,224,454 - 25,224,715RGD
Cytogenetic Map2p23.3UniSTS
HuRef225,121,906 - 25,122,167UniSTS
MARC_6319-6320:997299547:3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37225,384,267 - 25,384,607UniSTSGRCh37
Build 36225,237,771 - 25,238,111RGDNCBI36
Celera225,224,559 - 25,224,899RGD
HuRef225,122,011 - 25,122,351UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1204 2319 2784 2225 4826 1688 2182 4 598 1785 436 2207 6971 6288 23 3643 799 1651 1481 164