FTH1 (ferritin heavy chain 1) - Rat Genome Database

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Gene: FTH1 (ferritin heavy chain 1) Homo sapiens
Analyze
Symbol: FTH1
Name: ferritin heavy chain 1
RGD ID: 732498
HGNC Page HGNC:3976
Description: Enables several functions, including ferrous iron binding activity; ferroxidase activity; and iron ion sequestering activity. Involved in negative regulation of ferroptosis and negative regulation of fibroblast proliferation. Located in autolysosome. Implicated in hemochromatosis type 5 and neurodegeneration with brain iron accumulation. Biomarker of COVID-19.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: apoferritin; cell proliferation-inducing gene 15 protein; ferritin H subunit; ferritin heavy chain; ferritin, heavy polypeptide 1; FHC; FTH; FTHL6; H-ferritin; HFE5; MGC104426; NBIA9; PIG15; placenta immunoregulatory factor; PLIF; proliferation-inducing protein 15
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: FTH1P1   FTH1P10   FTH1P11   FTH1P12   FTH1P13   FTH1P15   FTH1P16   FTH1P2   FTH1P20   FTH1P21   FTH1P23   FTH1P24   FTH1P25   FTH1P26   FTH1P3   FTH1P4   FTH1P5   FTH1P6   FTH1P7   FTH1P8   FTH1P9  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381161,964,285 - 61,967,634 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1161,959,718 - 61,967,634 (-)EnsemblGRCh38hg38GRCh38
GRCh371161,731,757 - 61,735,106 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361161,488,333 - 61,491,708 (-)NCBINCBI36Build 36hg18NCBI36
Build 341161,488,334 - 61,491,708NCBI
Celera1159,067,058 - 59,070,433 (-)NCBICelera
Cytogenetic Map11q12.3NCBI
HuRef1158,059,745 - 58,063,103 (-)NCBIHuRef
CHM1_11161,614,953 - 61,618,328 (-)NCBICHM1_1
T2T-CHM13v2.01161,953,110 - 61,956,459 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-catechin  (EXP)
(-)-alpha-phellandrene  (EXP)
(1->4)-beta-D-glucan  (ISO)
1,2-dimethylhydrazine  (ISO)
1,3-benzothiazole-2-thiol  (EXP)
1,3-dichloropropan-2-ol  (EXP,ISO)
1,4-phenylenediamine  (EXP)
1-aminobenzotriazole  (ISO)
1-chloro-2,4-dinitrobenzene  (EXP)
1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine  (ISO)
1-naphthyl isothiocyanate  (EXP)
17beta-estradiol  (EXP,ISO)
17beta-hydroxy-17-methylestra-4,9,11-trien-3-one  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-D  (EXP)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2-(3,4-dimethoxyphenyl)-5-\{[2-(3,4-dimethoxyphenyl)ethyl](methyl)amino\}-2-(propan-2-yl)pentanenitrile  (ISO)
2-acetamidofluorene  (ISO)
2-hydroxyethyl methacrylate  (EXP)
2-tert-butylhydroquinone  (EXP)
25-hydroxycholesterol  (EXP)
3-chloropropane-1,2-diol  (ISO)
3-hydroxybutyric acid  (ISO)
3-methyladenine  (EXP,ISO)
3-O-Caffeoyl-1-O-methylquinic acid  (EXP)
3-phenylprop-2-enal  (EXP)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-(N-nitrosomethylamino)-1-(3-pyridyl)butan-1-one  (EXP)
4-hydroxy-TEMPO  (EXP,ISO)
5-aza-2'-deoxycytidine  (EXP)
7,12-dimethyltetraphene  (ISO)
7beta-aminocephalosporanic acid  (EXP)
9-phenanthrol  (ISO)
acetaldehyde  (EXP)
acrolein  (EXP)
acrylamide  (ISO)
aldehydo-D-glucose  (EXP,ISO)
all-trans-retinoic acid  (EXP,ISO)
all-trans-retinol  (ISO)
alpha-phellandrene  (EXP)
alpha-pinene  (EXP)
ammonium chloride  (ISO)
ammonium hexachloroplatinate  (EXP)
antimonite  (EXP)
antimycin A  (EXP)
antirheumatic drug  (EXP)
apigenin  (ISO)
Aroclor 1254  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
artesunate  (EXP)
asbestos  (EXP)
astragaloside IV  (EXP)
atorvastatin calcium  (ISO)
bafilomycin A1  (EXP)
benzene  (ISO)
benzo[a]pyrene  (EXP,ISO)
beryllium sulfate  (EXP)
beta-lapachone  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP,ISO)
bromobenzene  (ISO)
busulfan  (ISO)
butylated hydroxyanisole  (EXP,ISO)
cadmium atom  (EXP,ISO)
cadmium dichloride  (EXP,ISO)
cadmium sulfate  (EXP)
cannabidiol  (EXP)
carbamazepine  (EXP)
carbon nanotube  (ISO)
carmustine  (EXP)
cerium trichloride  (EXP)
chenodeoxycholic acid  (EXP)
chloroacetaldehyde  (EXP)
chloropicrin  (EXP)
chloroquine  (EXP,ISO)
chlorpromazine  (EXP)
chlorpyrifos  (ISO)
chromium(6+)  (EXP)
citraconic acid  (EXP)
clobetasol  (ISO)
clodronic acid  (EXP)
clofibrate  (ISO)
cobalt dichloride  (EXP)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(II) chloride  (EXP)
curcumin  (ISO)
cyclophosphamide  (ISO)
cyclosporin A  (EXP)
cyfluthrin  (EXP)
cylindrospermopsin  (ISO)
D-glucose  (EXP,ISO)
DDE  (EXP)
deferiprone  (EXP,ISO)
deguelin  (EXP)
deoxycholic acid  (EXP)
desferrioxamine B  (EXP,ISO)
diallyl trisulfide  (EXP)
diarsenic trioxide  (EXP)
Dibutyl phosphate  (EXP)
diltiazem  (ISO)
dimethyl fumarate  (EXP)
dimethylarsinic acid  (ISO)
dioxygen  (EXP,ISO)
dipotassium bis[mu-tartrato(4-)]diantimonate(2-) trihydrate  (EXP)
diquat  (EXP,ISO)
diuron  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
endosulfan  (ISO)
epichlorohydrin  (EXP)
erastin  (EXP,ISO)
ethanol  (EXP,ISO)
ethyl methanesulfonate  (EXP)
etoposide  (ISO)
fenpyroximate  (EXP)
ferric ammonium citrate  (EXP,ISO)
ferrostatin-1  (EXP,ISO)
fipronil  (ISO)
flavonoids  (EXP,ISO)
Fluorocitric acid  (ISO)
flutamide  (ISO)
folic acid  (ISO)
FR900359  (EXP)
fructose  (ISO)
fulvestrant  (EXP)
gamma-linolenic acid  (EXP)
gentamycin  (ISO)
ginkgolide B  (EXP,ISO)
glucose  (EXP,ISO)
glutathione  (EXP)
glyburide  (ISO)
glycochenodeoxycholic acid  (EXP)
glycocholic acid  (EXP)
glycodeoxycholic acid  (EXP)
gold atom  (EXP)
gold(0)  (EXP)
hemin  (EXP,ISO)
hexadecanoic acid  (EXP,ISO)
hexamethylene diisocyanate  (EXP)
hydralazine  (EXP)
hydrogen sulfide  (EXP)
hydroquinone  (EXP)
indoline  (EXP)
inulin  (ISO)
iron atom  (EXP,ISO)
iron dextran  (EXP,ISO)
iron trichloride  (ISO)
iron(0)  (EXP,ISO)
iron(III) citrate  (EXP)
isoflavones  (EXP)
ivermectin  (EXP)
kojic acid  (EXP)
L-ascorbic acid  (ISO)
lead diacetate  (EXP,ISO)
lead(0)  (EXP)
Leonurine  (EXP)
lipopolysaccharide  (EXP,ISO)
LY294002  (EXP)
manganese atom  (ISO)
manganese(0)  (ISO)
manganese(II) chloride  (ISO)
mercury dibromide  (EXP)
methotrexate  (EXP)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP)
miconazole  (ISO)
mono(2-ethylhexyl) phthalate  (ISO)
N-acetyl-L-cysteine  (EXP,ISO)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (EXP)
N-methyl-4-phenylpyridinium  (EXP,ISO)
N-methylnicotinate  (EXP)
N-nitrosodiethylamine  (ISO)
nickel dichloride  (ISO)
nickel sulfate  (EXP)
nicotinamide  (EXP)
nimodipine  (ISO)
ochratoxin A  (EXP)
oleic acid  (EXP)
omaveloxolone  (ISO)
ozone  (EXP)
p-chloromercuribenzoic acid  (EXP)
paclitaxel  (EXP)
paracetamol  (EXP)
paraformaldehyde macromolecule  (ISO)
pentaerythritol tetranitrate  (EXP)
perfluorododecanoic acid  (ISO)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (EXP)
phenylmercury acetate  (EXP)
picoxystrobin  (EXP)
pifithrin-alpha hydrobromide  (EXP)
pinosylvin  (EXP)
pirinixic acid  (EXP)
polymyxin B2  (EXP)
potassium bromate  (EXP)
potassium nitrate  (EXP)
rac-1,2-dichloropropane  (ISO)
reactive oxygen species  (EXP,ISO)
resveratrol  (EXP,ISO)
Ro 41-5253  (ISO)
rotenone  (EXP,ISO)
S-butyl-DL-homocysteine (S,R)-sulfoximine  (EXP,ISO)
Salvianolic acid A  (ISO)
sarin  (EXP)
SB 431542  (EXP)
sclareol  (EXP)
sevoflurane  (ISO)
silibinin  (EXP)
sodium arsenate  (EXP)
sodium arsenite  (EXP,ISO)
sodium fluoride  (ISO)
sodium nitrate  (ISO)
sodium sulfide (anhydrous)  (EXP)
stavudine  (ISO)
streptozocin  (ISO)
succimer  (EXP)
sulforaphane  (EXP)
sulindac  (EXP)
sunitinib  (EXP)
Sunset Yellow FCF  (EXP)
tartrazine  (EXP)
tebufenpyrad  (EXP)
temozolomide  (EXP)
tetrachloromethane  (ISO)
thiazoles  (EXP)
thifluzamide  (EXP)
thiram  (EXP)
titanium dioxide  (ISO)
tolterodine tartrate  (EXP)
toosendanin  (EXP)
topotecan  (EXP)
trans-pinosylvin  (EXP)
trichloroethene  (ISO)
triphenyl phosphate  (EXP)
Triptolide  (ISO)
troglitazone  (EXP)
tunicamycin  (EXP)
valproic acid  (EXP)
verapamil  (ISO)
wedelolactone  (ISO)
wortmannin  (EXP)
zileuton  (ISO)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal circulating ceruloplasmin concentration  (IAGP)
Abnormal circulating copper concentration  (IAGP)
Abnormal circulating iron concentration  (IAGP)
Abnormal circulating transferrin concentration  (IAGP)
Absent speech  (IAGP)
Adult onset  (IAGP)
Anemia  (IAGP)
Ataxia  (IAGP)
Athetosis  (IAGP)
Autosomal dominant inheritance  (IAGP)
Axial hypotonia  (IAGP)
Cerebellar atrophy  (IAGP)
Cerebellar hypoplasia  (IAGP)
Cerebral visual impairment  (IAGP)
Childhood onset  (IAGP)
Congenital onset  (IAGP)
Decreased circulating ferritin concentration  (IAGP)
Decreased transferrin saturation  (IAGP)
Delayed ability to sit  (IAGP)
Delayed ability to walk  (IAGP)
Delayed speech and language development  (IAGP)
Dysarthria  (IAGP)
Dysmetria  (IAGP)
Dysphagia  (IAGP)
Dystonia  (IAGP)
Elevated hepatic iron concentration  (IAGP)
Elevated transferrin saturation  (IAGP)
Exaggerated startle response  (IAGP)
Eye of the tiger anomaly of globus pallidus  (IAGP)
Failure to thrive  (IAGP)
Feeding difficulties  (IAGP)
Global developmental delay  (IAGP)
Hot cross bun sign  (IAGP)
Hyperreflexia  (IAGP)
Increased circulating ferritin concentration  (IAGP)
Increased circulating iron concentration  (IAGP)
Infantile onset  (IAGP)
Intellectual disability  (IAGP)
Iron accumulation in brain  (IAGP)
Juvenile onset  (IAGP)
Mental deterioration  (IAGP)
Microcephaly  (IAGP)
Neonatal onset  (IAGP)
Neurodegeneration  (IAGP)
Reduced cerebral white matter volume  (IAGP)
Retinal dystrophy  (IAGP)
Rod-cone dystrophy  (IAGP)
Seizure  (IAGP)
Spasticity  (IAGP)
Thin corpus callosum  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Early embryonic lethality of H ferritin gene deletion in mice. Ferreira C, etal., J Biol Chem 2000 Feb 4;275(5):3021-4.
2. Biology of ferritin in mammals: an update on iron storage, oxidative damage and neurodegeneration. Finazzi D and Arosio P, Arch Toxicol. 2014 Oct;88(10):1787-802. doi: 10.1007/s00204-014-1329-0. Epub 2014 Aug 15.
3. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
4. Using IL-2R/lymphocytes for predicting the clinical progression of patients with COVID-19. Hou H, etal., Clin Exp Immunol. 2020 Jul;201(1):76-84. doi: 10.1111/cei.13450. Epub 2020 May 15.
5. A mutation, in the iron-responsive element of H ferritin mRNA, causing autosomal dominant iron overload. Kato J, etal., Am J Hum Genet 2001 Jul;69(1):191-7. Epub 2001 May 24.
6. Cellular iron uptake, trafficking and metabolism: Key molecules and mechanisms and their roles in disease. Lane DJ, etal., Biochim Biophys Acta. 2015 May;1853(5):1130-44. doi: 10.1016/j.bbamcr.2015.01.021. Epub 2015 Feb 4.
7. Disrupted iron metabolism and ensuing oxidative stress may mediate cognitive dysfunction induced by chronic cerebral hypoperfusion. Li Y, etal., Biol Trace Elem Res. 2012 Dec;150(1-3):242-8. doi: 10.1007/s12011-012-9455-0. Epub 2012 May 26.
8. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
9. Downregulation of ferritin heavy chain increases labile iron pool, oxidative stress and cell death in cardiomyocytes. Omiya S, etal., J Mol Cell Cardiol. 2009 Jan;46(1):59-66. Epub 2008 Oct 19.
10. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
11. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
12. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
13. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
14. Rat ferritin-H: cDNA cloning, differential expression and localization during hepatocarcinogenesis. Wu CG, etal., Carcinogenesis 1997 Jan;18(1):47-52.
15. The clinical characteristics and outcomes of patients with diabetes and secondary hyperglycaemia with coronavirus disease 2019: A single-centre, retrospective, observational study in Wuhan. Zhang Y, etal., Diabetes Obes Metab. 2020 May 14. doi: 10.1111/dom.14086.
Additional References at PubMed
PMID:659425   PMID:1992356   PMID:3003694   PMID:3020541   PMID:3023856   PMID:3685996   PMID:3840162   PMID:3857215   PMID:3858810   PMID:6323167   PMID:6589621   PMID:6653779  
PMID:7504084   PMID:7616228   PMID:7821789   PMID:7916709   PMID:7931301   PMID:8630420   PMID:8889548   PMID:8915895   PMID:9003196   PMID:9159481   PMID:9581019   PMID:9924025  
PMID:10833524   PMID:10855793   PMID:11031247   PMID:11252894   PMID:11591653   PMID:11783942   PMID:11821435   PMID:11903046   PMID:11964300   PMID:11988076   PMID:12387819   PMID:12435735  
PMID:12477932   PMID:14615048   PMID:14702039   PMID:14998975   PMID:15123426   PMID:15302935   PMID:15388255   PMID:15489334   PMID:15604093   PMID:15607035   PMID:15727900   PMID:15755449  
PMID:15967798   PMID:16169070   PMID:16189514   PMID:16964243   PMID:16969126   PMID:17070541   PMID:17081983   PMID:17116749   PMID:17355907   PMID:17702748   PMID:17761032   PMID:17970701  
PMID:18160403   PMID:18621011   PMID:18985028   PMID:19023418   PMID:19056867   PMID:19126685   PMID:19299420   PMID:19539693   PMID:19821764   PMID:19855093   PMID:20088381   PMID:20110920  
PMID:20133674   PMID:20195357   PMID:20360068   PMID:20390345   PMID:20705053   PMID:20877624   PMID:20936779   PMID:21029774   PMID:21385903   PMID:21413929   PMID:21516116   PMID:21555518  
PMID:21573799   PMID:21630459   PMID:21653829   PMID:21674799   PMID:21800051   PMID:21829377   PMID:21873635   PMID:21988832   PMID:22020807   PMID:22043922   PMID:22117997   PMID:22212821  
PMID:22426960   PMID:22443280   PMID:22458338   PMID:22675492   PMID:22676252   PMID:22760008   PMID:22768652   PMID:22779921   PMID:22843505   PMID:22863883   PMID:22939629   PMID:23079089  
PMID:23079850   PMID:23119080   PMID:23324584   PMID:23344859   PMID:23376485   PMID:23414517   PMID:23443559   PMID:23463506   PMID:23533145   PMID:23602568   PMID:23611361   PMID:23640898  
PMID:23874603   PMID:23892696   PMID:24053984   PMID:24066693   PMID:24098686   PMID:24113184   PMID:24124891   PMID:24337577   PMID:24446242   PMID:24512320   PMID:24742827   PMID:24823311  
PMID:25124580   PMID:25134646   PMID:25265351   PMID:25277244   PMID:25327288   PMID:25416956   PMID:25448225   PMID:25468996   PMID:25476789   PMID:25910212   PMID:26217791   PMID:26327381  
PMID:26344197   PMID:26403645   PMID:26436293   PMID:26518749   PMID:26540556   PMID:26602884   PMID:26618866   PMID:26758041   PMID:26853188   PMID:26886577   PMID:27499296   PMID:27566559  
PMID:27611581   PMID:27732930   PMID:28289076   PMID:28298427   PMID:28514442   PMID:28636371   PMID:28754384   PMID:28774348   PMID:28837569   PMID:28877469   PMID:28960260   PMID:28993630  
PMID:29046127   PMID:29149599   PMID:29240947   PMID:29457657   PMID:29507755   PMID:29544765   PMID:29580991   PMID:29729700   PMID:30102404   PMID:30274235   PMID:30325535   PMID:30518922  
PMID:30552136   PMID:30610587   PMID:30700131   PMID:30720039   PMID:30850661   PMID:30873154   PMID:31104064   PMID:31178527   PMID:31196483   PMID:31478661   PMID:31515488   PMID:31536960  
PMID:31586073   PMID:31674712   PMID:32240239   PMID:32296183   PMID:32608971   PMID:32625166   PMID:32645077   PMID:32681031   PMID:32877424   PMID:32989298   PMID:33087927   PMID:33194618  
PMID:33249617   PMID:33420375   PMID:33545068   PMID:33595184   PMID:33644029   PMID:33864445   PMID:33961781   PMID:34155536   PMID:34195939   PMID:34265052   PMID:34499029   PMID:34535730  
PMID:34551213   PMID:34600867   PMID:34826424   PMID:35013218   PMID:35140242   PMID:35162984   PMID:35253629   PMID:35271311   PMID:35441429   PMID:35831314   PMID:36183555   PMID:36215168  
PMID:36244648   PMID:36361777   PMID:36913375   PMID:36940732   PMID:37011414   PMID:37265023   PMID:37304234   PMID:37528314   PMID:37689310   PMID:38025726   PMID:38040806   PMID:38499786  
PMID:38609896   PMID:38697112   PMID:38738555   PMID:39294443  


Genomics

Comparative Map Data
FTH1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381161,964,285 - 61,967,634 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1161,959,718 - 61,967,634 (-)EnsemblGRCh38hg38GRCh38
GRCh371161,731,757 - 61,735,106 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361161,488,333 - 61,491,708 (-)NCBINCBI36Build 36hg18NCBI36
Build 341161,488,334 - 61,491,708NCBI
Celera1159,067,058 - 59,070,433 (-)NCBICelera
Cytogenetic Map11q12.3NCBI
HuRef1158,059,745 - 58,063,103 (-)NCBIHuRef
CHM1_11161,614,953 - 61,618,328 (-)NCBICHM1_1
T2T-CHM13v2.01161,953,110 - 61,956,459 (-)NCBIT2T-CHM13v2.0
Fth1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39199,957,964 - 9,962,475 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl199,957,962 - 9,962,462 (+)EnsemblGRCm39 Ensembl
GRCm38199,980,600 - 9,985,111 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl199,980,598 - 9,985,098 (+)EnsemblGRCm38mm10GRCm38
MGSCv371910,057,193 - 10,059,582 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361910,049,748 - 10,052,137 (+)NCBIMGSCv36mm8
Celera1910,680,030 - 10,682,419 (+)NCBICelera
Cytogenetic Map19ANCBI
cM Map196.23NCBI
Fth1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81216,052,037 - 216,054,325 (+)NCBIGRCr8
mRatBN7.21206,627,142 - 206,629,430 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1206,627,103 - 206,725,424 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1215,005,534 - 215,007,822 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01222,060,660 - 222,062,948 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01214,755,668 - 214,757,956 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01226,030,940 - 226,033,228 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1226,030,938 - 226,033,228 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01232,979,122 - 232,981,410 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41212,430,453 - 212,432,741 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11212,588,882 - 212,591,171 (+)NCBI
Celera1204,122,676 - 204,124,964 (+)NCBICelera
RH 3.4 Map14258.8RGD
Cytogenetic Map1q43NCBI
Fth1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555115,771,777 - 5,773,112 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555115,772,374 - 5,773,224 (+)NCBIChiLan1.0ChiLan1.0
FTH1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2963,197,979 - 63,203,292 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11164,241,728 - 64,244,902 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01157,329,163 - 57,332,248 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11160,687,517 - 60,690,080 (-)NCBIpanpan1.1PanPan1.1panPan2
FTH1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11854,466,167 - 54,468,733 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1854,466,023 - 54,468,732 (+)EnsemblCanFam3.1canFam3CanFam3.1
UMICH_Zoey_3.12832,593,900 - 32,594,536 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02832,618,740 - 32,619,377 (-)NCBIUNSW_CanFamBas_1.0
Fth1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494711,005,083 - 11,006,769 (+)NCBIHiC_Itri_2
SpeTri2.0NW_0049365811,118,905 - 1,120,592 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FTH1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.129,535,051 - 9,537,979 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.228,983,179 - 8,986,091 (+)NCBISscrofa10.2Sscrofa10.2susScr3
FTH1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1111,837,533 - 11,840,926 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666038109,211,114 - 109,214,623 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Fth1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624926469,870 - 471,142 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in FTH1
45 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_002032.3(FTH1):c.-164A>T single nucleotide variant Hemochromatosis type 5 [RCV001823872] Chr11:61967589 [GRCh38]
Chr11:61735061 [GRCh37]
Chr11:11q12.3
pathogenic
NM_002032.3(FTH1):c.*312A>G single nucleotide variant Autosomal dominant vitreoretinochoroidopathy [RCV001103667]|Hemochromatosis type 5 [RCV001823888]|Retinitis pigmentosa [RCV001103668]|Vitelliform macular dystrophy 2 [RCV001103666]|not provided [RCV004693044] Chr11:61964415 [GRCh38]
Chr11:61731887 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_002032.3(FTH1):c.*396A>G single nucleotide variant Autosomal dominant vitreoretinochoroidopathy [RCV000289773]|Hemochromatosis type 5 [RCV001823885]|Retinitis Pigmentosa, Recessive [RCV000384131]|Retinitis pigmentosa [RCV001106667]|Vitelliform macular dystrophy 2 [RCV000344702] Chr11:61964331 [GRCh38]
Chr11:61731803 [GRCh37]
Chr11:11q12.3
likely benign|uncertain significance
NM_002032.3(FTH1):c.388-5T>C single nucleotide variant Hemochromatosis type 5 [RCV001823892] Chr11:61964896 [GRCh38]
Chr11:61732368 [GRCh37]
Chr11:11q12.3
benign|uncertain significance
NM_002032.3(FTH1):c.-2C>T single nucleotide variant FTH1-related disorder [RCV003950021]|Hemochromatosis type 5 [RCV001823896] Chr11:61967427 [GRCh38]
Chr11:61734899 [GRCh37]
Chr11:11q12.3
likely benign|uncertain significance
NM_004183.3(BEST1):c.953C>T (p.Ser318Phe) single nucleotide variant Malignant melanoma [RCV000069559] Chr11:61959896 [GRCh38]
Chr11:61727368 [GRCh37]
Chr11:61483944 [NCBI36]
Chr11:11q12.3
not provided
NM_002032.3(FTH1):c.*319G>A single nucleotide variant Autosomal dominant vitreoretinochoroidopathy [RCV000360041]|Hemochromatosis type 5 [RCV001823887]|Retinitis Pigmentosa, Recessive [RCV000392481]|Retinitis pigmentosa [RCV001108821]|Vitelliform macular dystrophy 2 [RCV000305115]|not provided [RCV001753769] Chr11:61964408 [GRCh38]
Chr11:61731880 [GRCh37]
Chr11:11q12.3
benign|likely benign
NM_002032.3(FTH1):c.*165T>C single nucleotide variant Hemochromatosis type 5 [RCV001823890] Chr11:61964562 [GRCh38]
Chr11:61732034 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_002032.2(FTH1):c.-221G>A single nucleotide variant Iron Overload [RCV000375407] Chr11:61967646 [GRCh38]
Chr11:61735118 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_002032.3(FTH1):c.*389A>G single nucleotide variant Autosomal dominant vitreoretinochoroidopathy [RCV000295412]|Hemochromatosis type 5 [RCV001823886]|Retinitis Pigmentosa, Recessive [RCV000400061]|Retinitis pigmentosa [RCV001106668]|Vitelliform macular dystrophy 2 [RCV000350392]|not provided [RCV001548273] Chr11:61964338 [GRCh38]
Chr11:61731810 [GRCh37]
Chr11:11q12.3
benign|likely benign|uncertain significance
NM_002032.2(FTH1):c.-231G>A single nucleotide variant Iron Overload [RCV000278491] Chr11:61967656 [GRCh38]
Chr11:61735128 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_002032.3(FTH1):c.208C>T (p.Leu70=) single nucleotide variant Hemochromatosis type 5 [RCV001823894] Chr11:61965422 [GRCh38]
Chr11:61732894 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_002032.3(FTH1):c.-204A>G single nucleotide variant Hemochromatosis type 5 [RCV001823897] Chr11:61967629 [GRCh38]
Chr11:61735101 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_002032.3(FTH1):c.*385T>G single nucleotide variant Iron Overload [RCV000335527] Chr11:61964342 [GRCh38]
Chr11:61731814 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_004183.4(BEST1):c.1070C>T (p.Ala357Val) single nucleotide variant Autosomal dominant vitreoretinochoroidopathy [RCV000269600]|Iron Overload [RCV000300553]|Retinal dystrophy [RCV003888716]|Retinitis Pigmentosa, Recessive [RCV000388625]|Retinitis pigmentosa [RCV001106455]|Vitelliform macular dystrophy 2 [RCV000333972]|not provided [RCV000885201] Chr11:61960013 [GRCh38]
Chr11:61727485 [GRCh37]
Chr11:11q12.3
benign|likely benign|uncertain significance
NM_004183.4(BEST1):c.1410G>A (p.Thr470=) single nucleotide variant Autosomal dominant vitreoretinochoroidopathy [RCV000365872]|Autosomal recessive bestrophinopathy [RCV001553907]|Iron Overload [RCV000401921]|Retinal dystrophy [RCV003888617]|Retinitis Pigmentosa, Recessive [RCV000392906]|Retinitis pigmentosa 50 [RCV001553906]|Retinitis pigmentosa [RCV001103498]|Vitelliform macular dystrophy 2 [RCV000301873]|not provided [RCV001517785]|not specified [RCV000173795] Chr11:61962564 [GRCh38]
Chr11:61962564..61962565 [GRCh38]
Chr11:61730036 [GRCh37]
Chr11:61730036..61730037 [GRCh37]
Chr11:11q12.3
benign
NM_004183.4(BEST1):c.1474G>A (p.Val492Ile) single nucleotide variant Autosomal dominant vitreoretinochoroidopathy [RCV000332568]|Iron Overload [RCV000311168]|Retinitis Pigmentosa, Recessive [RCV000368515]|Retinitis pigmentosa [RCV001105411]|Vitelliform macular dystrophy 2 [RCV000263285]|not provided [RCV000970229]|not specified [RCV000173796] Chr11:61962628 [GRCh38]
Chr11:61730100 [GRCh37]
Chr11:11q12.3
benign|likely benign
NM_004183.4(BEST1):c.*133T>C single nucleotide variant Autosomal dominant vitreoretinochoroidopathy [RCV000377814]|Iron Overload [RCV000377572]|Retinitis Pigmentosa, Recessive [RCV000329518]|Retinitis pigmentosa [RCV001105506]|Vitelliform macular dystrophy 2 [RCV000264579]|not provided [RCV001653504] Chr11:61964255 [GRCh38]
Chr11:61731727 [GRCh37]
Chr11:11q12.3
benign|likely benign
NM_004183.4(BEST1):c.*24C>T single nucleotide variant Autosomal dominant vitreoretinochoroidopathy [RCV000323224]|Iron Overload [RCV000327696]|Retinitis Pigmentosa, Recessive [RCV000268187]|Retinitis pigmentosa [RCV001105502]|Vitelliform macular dystrophy 2 [RCV000353870]|not provided [RCV002225582] Chr11:61964146 [GRCh38]
Chr11:61731618 [GRCh37]
Chr11:11q12.3
likely benign|uncertain significance
NM_004183.4(BEST1):c.1064G>A (p.Arg355His) single nucleotide variant Autosomal dominant vitreoretinochoroidopathy [RCV000273316]|Iron Overload [RCV000406541]|Retinitis Pigmentosa, Recessive [RCV000328299]|Retinitis pigmentosa [RCV001106451]|Vitelliform macular dystrophy 2 [RCV000364308]|not provided [RCV001238318] Chr11:61960007 [GRCh38]
Chr11:61727479 [GRCh37]
Chr11:11q12.3
likely benign|uncertain significance
NM_002032.3(FTH1):c.413A>T (p.Tyr138Phe) single nucleotide variant Hemochromatosis type 5 [RCV001823891] Chr11:61964866 [GRCh38]
Chr11:61732338 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_004183.4(BEST1):c.1669G>A (p.Glu557Lys) single nucleotide variant Autosomal dominant vitreoretinochoroidopathy [RCV000311148]|BEST1-related disorder [RCV004732677]|Iron Overload [RCV000362495]|Retinitis Pigmentosa, Recessive [RCV000350824]|Retinitis pigmentosa [RCV001108733]|Vitelliform macular dystrophy 2 [RCV000408253]|not provided [RCV000086092] Chr11:61962823 [GRCh38]
Chr11:61730295 [GRCh37]
Chr11:11q12.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_004183.4(BEST1):c.1519T>C (p.Ser507Pro) single nucleotide variant Autosomal dominant vitreoretinochoroidopathy [RCV000278563]|BEST1-related disorder [RCV004537722]|Iron Overload [RCV000370478]|Retinitis Pigmentosa, Recessive [RCV000373030]|Retinitis pigmentosa [RCV001106556]|Vitelliform macular dystrophy 2 [RCV000318463]|not provided [RCV000994642] Chr11:61962673 [GRCh38]
Chr11:61730145 [GRCh37]
Chr11:11q12.3
likely benign|uncertain significance
NM_002032.3(FTH1):c.387+12A>G single nucleotide variant Autosomal dominant vitreoretinochoroidopathy [RCV000278623]|Hemochromatosis type 5 [RCV001823893]|Iron Overload [RCV000276433]|Retinitis Pigmentosa, Recessive [RCV000392248]|Vitelliform macular dystrophy 2 [RCV000335989]|not provided [RCV002522199] Chr11:61964975 [GRCh38]
Chr11:61732447 [GRCh37]
Chr11:11q12.3
benign|likely benign
NM_002032.3(FTH1):c.161A>G (p.Lys54Arg) single nucleotide variant Autosomal dominant vitreoretinochoroidopathy [RCV000348713]|FTH1-related disorder [RCV003957577]|Hemochromatosis type 5 [RCV001823895]|Iron Overload [RCV000385949]|Retinitis Pigmentosa, Recessive [RCV000282008]|Vitelliform macular dystrophy 2 [RCV000392462]|not provided [RCV002056211] Chr11:61965469 [GRCh38]
Chr11:61732941 [GRCh37]
Chr11:11q12.3
benign|likely benign
NM_002032.3(FTH1):c.*222C>T single nucleotide variant Autosomal dominant vitreoretinochoroidopathy [RCV000378877]|Hemochromatosis type 5 [RCV001823889]|Iron Overload [RCV000365798]|Retinitis Pigmentosa, Recessive [RCV000324273]|Vitelliform macular dystrophy 2 [RCV000283182]|not provided [RCV001612963] Chr11:61964505 [GRCh38]
Chr11:61731977 [GRCh37]
Chr11:11q12.3
benign
NM_004183.4(BEST1):c.1023C>T (p.Pro341=) single nucleotide variant Autosomal dominant vitreoretinochoroidopathy [RCV000303310]|Iron Overload [RCV000342198]|Retinitis Pigmentosa, Recessive [RCV000392142]|Retinitis pigmentosa [RCV001105323]|Vitelliform macular dystrophy 2 [RCV000358637]|not provided [RCV000086082]|not specified [RCV000596677] Chr11:61959966 [GRCh38]
Chr11:61727438 [GRCh37]
Chr11:11q12.3
benign|likely benign|not provided
NM_004183.4(BEST1):c.1557C>T (p.Ser519=) single nucleotide variant Autosomal dominant vitreoretinochoroidopathy [RCV000378667]|Iron Overload [RCV000275822]|Retinal dystrophy [RCV003888491]|Retinitis Pigmentosa, Recessive [RCV000284287]|Retinitis pigmentosa [RCV001106557]|Vitelliform macular dystrophy 2 [RCV000324134]|not provided [RCV000086088]|not specified [RCV000152855] Chr11:61962711 [GRCh38]
Chr11:61962711..61962712 [GRCh38]
Chr11:61730183 [GRCh37]
Chr11:61730183..61730184 [GRCh37]
Chr11:11q12.3
benign|not provided
NM_004183.4(BEST1):c.1608T>C (p.Thr536=) single nucleotide variant Autosomal dominant vitreoretinochoroidopathy [RCV000398299]|Iron Overload [RCV000326254]|Retinal dystrophy [RCV003888492]|Retinitis Pigmentosa, Recessive [RCV000314627]|Retinitis pigmentosa [RCV001108732]|Vitelliform macular dystrophy 2 [RCV000344805]|not provided [RCV000086090]|not specified [RCV000152856] Chr11:61962762 [GRCh38]
Chr11:61962762..61962763 [GRCh38]
Chr11:61730234 [GRCh37]
Chr11:61730234..61730235 [GRCh37]
Chr11:11q12.3
benign|not provided
NM_004183.4(BEST1):c.1699C>T (p.Leu567Phe) single nucleotide variant Autosomal dominant vitreoretinochoroidopathy [RCV000357304]|Iron Overload [RCV000272476]|Retinitis Pigmentosa, Recessive [RCV000298984]|Retinitis pigmentosa [RCV001103575]|Vitelliform macular dystrophy 2 [RCV000262526]|not provided [RCV000086094] Chr11:61962853 [GRCh38]
Chr11:61730325 [GRCh37]
Chr11:11q12.3
likely benign|conflicting interpretations of pathogenicity|not provided
NM_004183.4(BEST1):c.1143C>T (p.Asp381=) single nucleotide variant Autosomal dominant vitreoretinochoroidopathy [RCV000375066]|BEST1-related disorder [RCV004537721]|Iron Overload [RCV000355432]|Retinitis Pigmentosa, Recessive [RCV000329766]|Retinitis pigmentosa [RCV001108652]|Vitelliform macular dystrophy 2 [RCV000294315]|not provided [RCV001469477] Chr11:61962297 [GRCh38]
Chr11:61729769 [GRCh37]
Chr11:11q12.3
likely benign|uncertain significance
GRCh37/hg19 11q12.1-12.3(chr11:58935215-62177656)x3 copy number gain not provided [RCV000683362] Chr11:58935215..62177656 [GRCh37]
Chr11:11q12.1-12.3
likely pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
NM_002032.3(FTH1):c.114+149C>T single nucleotide variant not provided [RCV001612406] Chr11:61967163 [GRCh38]
Chr11:61734635 [GRCh37]
Chr11:11q12.3
benign
NC_000011.10:g.(?_61964104)_(61967617_?)dup duplication not provided [RCV001032119] Chr11:61731576..61735089 [GRCh37]
Chr11:11q12.3
uncertain significance
GRCh37/hg19 11q12.2-12.3(chr11:60385382-62456278)x3 copy number gain not provided [RCV001006412] Chr11:60385382..62456278 [GRCh37]
Chr11:11q12.2-12.3
uncertain significance
NC_000011.10:g.61967704C>A single nucleotide variant not provided [RCV001725004] Chr11:61967704 [GRCh38]
Chr11:61735176 [GRCh37]
Chr11:11q12.3
benign
NM_002032.3(FTH1):c.*159C>T single nucleotide variant Hemochromatosis type 5 [RCV001823935] Chr11:61964568 [GRCh38]
Chr11:61732040 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_002032.3(FTH1):c.60C>T (p.Ala20=) single nucleotide variant Hemochromatosis type 5 [RCV001823936] Chr11:61967366 [GRCh38]
Chr11:61734838 [GRCh37]
Chr11:11q12.3
benign
NM_002032.3(FTH1):c.115-263C>T single nucleotide variant not provided [RCV001715405] Chr11:61965778 [GRCh38]
Chr11:61733250 [GRCh37]
Chr11:11q12.3
benign
NM_002032.3(FTH1):c.-14C>T single nucleotide variant Hemochromatosis type 5 [RCV001823937] Chr11:61967439 [GRCh38]
Chr11:61734911 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_002032.3(FTH1):c.-136C>A single nucleotide variant Hemochromatosis type 5 [RCV001823938] Chr11:61967561 [GRCh38]
Chr11:61735033 [GRCh37]
Chr11:11q12.3
uncertain significance
NC_000011.10:g.61967913_61967914insA insertion not provided [RCV001669930] Chr11:61967913..61967914 [GRCh38]
Chr11:61735385..61735386 [GRCh37]
Chr11:11q12.3
benign
NM_002032.3(FTH1):c.*336A>G single nucleotide variant Autosomal dominant vitreoretinochoroidopathy [RCV001108819]|Hemochromatosis type 5 [RCV001823939]|Retinitis pigmentosa [RCV001108817]|Vitelliform macular dystrophy 2 [RCV001108818] Chr11:61964391 [GRCh38]
Chr11:61731863 [GRCh37]
Chr11:11q12.3
uncertain significance
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3
pathogenic
NC_000011.10:g.61967918_61967919insA insertion not provided [RCV001641865] Chr11:61967918..61967919 [GRCh38]
Chr11:61735390..61735391 [GRCh37]
Chr11:11q12.3
benign
NC_000011.9:g.(?_61731556)_(61732604_?)dup duplication not provided [RCV001300350] Chr11:61731556..61732604 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_002032.3(FTH1):c.261+23_261+29dup duplication not provided [RCV001725512] Chr11:61965339..61965340 [GRCh38]
Chr11:61732811..61732812 [GRCh37]
Chr11:11q12.3
benign
NC_000011.10:g.61967919dup duplication not provided [RCV001713892] Chr11:61967909..61967910 [GRCh38]
Chr11:61735381..61735382 [GRCh37]
Chr11:11q12.3
benign
NM_004183.2(BEST1):c.*730C>G single nucleotide variant not provided [RCV001774118] Chr11:61964852 [GRCh38]
Chr11:61732324 [GRCh37]
Chr11:11q12.3
uncertain significance
NC_000011.9:g.(?_58916346)_(64972349_?)dup duplication Leukocyte adhesion deficiency 3 [RCV003113394]|not provided [RCV003113393] Chr11:58916346..64972349 [GRCh37]
Chr11:11q12.1-13.1
uncertain significance|no classifications from unflagged records
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 copy number gain MISSED ABORTION [RCV002282973] Chr11:32799481..134938470 [GRCh37]
Chr11:11p13-q25
pathogenic
NM_004183.4(BEST1):c.652C>A (p.Arg218Ser) single nucleotide variant Vitelliform macular dystrophy 2 [RCV002468566]|not provided [RCV000086149] Chr11:61957402 [GRCh38]
Chr11:61724874 [GRCh37]
Chr11:11q12.3
likely pathogenic|not provided
NM_004183.4(BEST1):c.889C>T (p.Pro297Ser) single nucleotide variant Vitelliform macular dystrophy 2 [RCV000678529]|not provided [RCV000086184] Chr11:61959519 [GRCh38]
Chr11:61726991 [GRCh37]
Chr11:11q12.3
pathogenic|likely pathogenic|not provided
NM_004183.4(BEST1):c.932T>G (p.Val311Gly) single nucleotide variant Vitelliform macular dystrophy 2 [RCV002468901] Chr11:61959562 [GRCh38]
Chr11:61727034 [GRCh37]
Chr11:11q12.3
pathogenic
NM_002032.3(FTH1):c.442G>C (p.Glu148Gln) single nucleotide variant Inborn genetic diseases [RCV002884000] Chr11:61964837 [GRCh38]
Chr11:61732309 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_002032.3(FTH1):c.249T>G (p.Leu83=) single nucleotide variant not provided [RCV002914213] Chr11:61965381 [GRCh38]
Chr11:61732853 [GRCh37]
Chr11:11q12.3
benign
NM_002032.3(FTH1):c.486C>T (p.Pro162=) single nucleotide variant not provided [RCV002923181] Chr11:61964793 [GRCh38]
Chr11:61732265 [GRCh37]
Chr11:11q12.3
benign
NM_002032.3(FTH1):c.298_299delinsAA (p.Ala100Lys) indel not provided [RCV002914511] Chr11:61965075..61965076 [GRCh38]
Chr11:61732547..61732548 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_002032.3(FTH1):c.436A>G (p.Ile146Val) single nucleotide variant not provided [RCV002600837] Chr11:61964843 [GRCh38]
Chr11:61732315 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_002032.3(FTH1):c.198T>C (p.His66=) single nucleotide variant not provided [RCV003088256] Chr11:61965432 [GRCh38]
Chr11:61732904 [GRCh37]
Chr11:11q12.3
likely benign
NM_004183.4(BEST1):c.584C>T (p.Ala195Val) single nucleotide variant Autosomal recessive bestrophinopathy [RCV000490256]|Autosomal recessive bestrophinopathy [RCV002477254]|BEST1-related disorder [RCV004732678]|Retinal dystrophy [RCV000678528]|Vitelliform macular dystrophy 2 [RCV002247491]|not provided [RCV000086140] Chr11:61956946 [GRCh38]
Chr11:61724418 [GRCh37]
Chr11:11q12.3
pathogenic|likely pathogenic|uncertain significance|not provided
NM_002032.3(FTH1):c.239G>A (p.Arg80Gln) single nucleotide variant not provided [RCV003728237] Chr11:61965391 [GRCh38]
Chr11:61732863 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_002032.3(FTH1):c.512_513del (p.Leu170_Phe171insTer) deletion Neurodegeneration with brain iron accumulation 9 [RCV003482891]|not provided [RCV004721198] Chr11:61964766..61964767 [GRCh38]
Chr11:61732238..61732239 [GRCh37]
Chr11:11q12.3
pathogenic
NM_002032.3(FTH1):c.445T>G (p.Leu149Val) single nucleotide variant not provided [RCV003692207] Chr11:61964834 [GRCh38]
Chr11:61732306 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_002032.3(FTH1):c.330T>C (p.Asn110=) single nucleotide variant not provided [RCV003724080] Chr11:61965044 [GRCh38]
Chr11:61732516 [GRCh37]
Chr11:11q12.3
likely benign
NM_002032.3(FTH1):c.514G>A (p.Asp172Asn) single nucleotide variant FTH1-related disorder [RCV003402863] Chr11:61964765 [GRCh38]
Chr11:61732237 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_002032.3(FTH1):c.487_490dup (p.Ser164Ter) duplication Neurodegeneration with brain iron accumulation 9 [RCV003482890] Chr11:61964788..61964789 [GRCh38]
Chr11:61732260..61732261 [GRCh37]
Chr11:11q12.3
pathogenic
NM_002032.3(FTH1):c.456C>T (p.His152=) single nucleotide variant not provided [RCV003561516] Chr11:61964823 [GRCh38]
Chr11:61732295 [GRCh37]
Chr11:11q12.3
benign
NM_002032.3(FTH1):c.525C>T (p.Thr175=) single nucleotide variant FTH1-related disorder [RCV003929205]|not provided [RCV003542935] Chr11:61964754 [GRCh38]
Chr11:61732226 [GRCh37]
Chr11:11q12.3
benign
NM_002032.3(FTH1):c.112A>G (p.Met38Val) single nucleotide variant not provided [RCV003816305] Chr11:61967314 [GRCh38]
Chr11:61734786 [GRCh37]
Chr11:11q12.3
uncertain significance
GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3 copy number gain not specified [RCV003986944] Chr11:56895955..69295402 [GRCh37]
Chr11:11q12.1-13.3
likely pathogenic
NM_002032.3(FTH1):c.129C>T (p.Asp43=) single nucleotide variant not provided [RCV003866747] Chr11:61965501 [GRCh38]
Chr11:61732973 [GRCh37]
Chr11:11q12.3
likely benign
NM_002032.3(FTH1):c.*5C>T single nucleotide variant FTH1-related disorder [RCV003934567] Chr11:61964722 [GRCh38]
Chr11:61732194 [GRCh37]
Chr11:11q12.3
likely benign
NM_002032.3(FTH1):c.51A>C (p.Ser17=) single nucleotide variant FTH1-related disorder [RCV003944654] Chr11:61967375 [GRCh38]
Chr11:61734847 [GRCh37]
Chr11:11q12.3
likely benign
NM_002032.3(FTH1):c.57C>T (p.Ala19=) single nucleotide variant FTH1-related disorder [RCV003899856] Chr11:61967369 [GRCh38]
Chr11:61734841 [GRCh37]
Chr11:11q12.3
likely benign
NM_002032.3(FTH1):c.-162T>G single nucleotide variant FTH1-related disorder [RCV003984724] Chr11:61967587 [GRCh38]
Chr11:61735059 [GRCh37]
Chr11:11q12.3
likely benign
NM_004183.4(BEST1):c.1101-491A>G single nucleotide variant Autosomal recessive bestrophinopathy [RCV004560338] Chr11:61961764 [GRCh38]
Chr11:61729236 [GRCh37]
Chr11:11q12.3
likely pathogenic
NM_002032.3(FTH1):c.334A>C (p.Asn112His) single nucleotide variant Inborn genetic diseases [RCV004618778] Chr11:61965040 [GRCh38]
Chr11:61732512 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_002032.3(FTH1):c.376A>C (p.Asn126His) single nucleotide variant not provided [RCV004773328] Chr11:61964998 [GRCh38]
Chr11:61732470 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_002032.3(FTH1):c.277G>A (p.Asp93Asn) single nucleotide variant FTH1-related disorder [RCV004730378] Chr11:61965097 [GRCh38]
Chr11:61732569 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_002032.3(FTH1):c.273_274del (p.Cys91_Asp92delinsTer) microsatellite not provided [RCV004727407] Chr11:61965100..61965101 [GRCh38]
Chr11:61732572..61732573 [GRCh37]
Chr11:11q12.3
uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
NM_002032.3(FTH1):c.374A>G (p.Lys125Arg) single nucleotide variant Inborn genetic diseases [RCV003280759] Chr11:61965000 [GRCh38]
Chr11:61732472 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_002032.3(FTH1):c.482C>T (p.Ala161Val) single nucleotide variant Inborn genetic diseases [RCV003279366] Chr11:61964797 [GRCh38]
Chr11:61732269 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_002032.3(FTH1):c.355C>T (p.His119Tyr) single nucleotide variant Inborn genetic diseases [RCV003261464] Chr11:61965019 [GRCh38]
Chr11:61732491 [GRCh37]
Chr11:11q12.3
uncertain significance
NC_000011.10:g.61967919del deletion not provided [RCV001676568] Chr11:61967910 [GRCh38]
Chr11:61735382 [GRCh37]
Chr11:11q12.3
benign
NC_000011.9:g.(?_59596957)_(68707199_?)dup duplication Familial temporal lobe epilepsy 8 [RCV001372442] Chr11:59596957..68707199 [GRCh37]
Chr11:11q12.1-13.3
uncertain significance
NC_000011.9:g.(?_61731556)_(61735061_?)dup duplication not provided [RCV003113397] Chr11:61731556..61735061 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_002032.3(FTH1):c.410A>G (p.His137Arg) single nucleotide variant Inborn genetic diseases [RCV004070550]|not provided [RCV002616499] Chr11:61964869 [GRCh38]
Chr11:61732341 [GRCh37]
Chr11:11q12.3
uncertain significance
NM_002032.3(FTH1):c.209T>C (p.Leu70Pro) single nucleotide variant not provided [RCV003705834] Chr11:61965421 [GRCh38]
Chr11:61732893 [GRCh37]
Chr11:11q12.3
uncertain significance
GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3 copy number gain not provided [RCV003484842] Chr11:59923608..76272324 [GRCh37]
Chr11:11q12.2-13.5
pathogenic
GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3 copy number gain not specified [RCV003986918] Chr11:50398499..63924462 [GRCh37]
Chr11:11p11.12-q13.1
likely pathogenic
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR200Bhsa-miR-200b-3pOncomiRDBexternal_infoNANA20390345

Predicted Target Of
Summary Value
Count of predictions:2208
Count of miRNA genes:820
Interacting mature miRNAs:969
Transcripts:ENST00000273550, ENST00000526640, ENST00000529191, ENST00000529548, ENST00000529631, ENST00000530019, ENST00000532601, ENST00000532829, ENST00000533138, ENST00000534180, ENST00000534719
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
1357380BW64_HBody weight QTL 64 (human)2.2Body weightpercent fat after exercise training116097893786978937Human

Markers in Region
RH94224  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371161,734,180 - 61,734,344UniSTSGRCh37
Build 361161,490,756 - 61,490,920RGDNCBI36
Celera1159,069,481 - 59,069,645RGD
Cytogenetic Map11q13UniSTS
Cytogenetic Map11q12.3UniSTS
HuRef1158,062,168 - 58,062,332UniSTS
GeneMap99-GB4 RH Map11229.09UniSTS
D1S2077E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371568,241 - 568,324UniSTSGRCh37
GRCh37MT7,690 - 7,773UniSTSGRCh37
Build 361558,104 - 558,187RGDNCBI36
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map9q21.32UniSTS
HuRef14,495 - 4,578UniSTS
D11S3983  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371161,731,836 - 61,732,179UniSTSGRCh37
Build 361161,488,412 - 61,488,755RGDNCBI36
Celera1159,067,137 - 59,067,480RGD
Cytogenetic Map11q13UniSTS
HuRef1158,059,824 - 58,060,167UniSTS
STS-L20941  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371161,731,991 - 61,732,187UniSTSGRCh37
Build 361161,488,567 - 61,488,763RGDNCBI36
Celera1159,067,292 - 59,067,488RGD
Cytogenetic Map11q13UniSTS
HuRef1158,059,979 - 58,060,175UniSTS
GeneMap99-GB4 RH Map11228.98UniSTS
G65764  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map11q13UniSTS
D1S2060E  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map11q13UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map6p12.3UniSTS
GDB:197842  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map11q13UniSTS


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
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008346 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB062402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF088851 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH002693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311818 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM905939 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP003733 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY258285 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000857 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001399 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC011359 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC013724 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015156 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC016009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC016857 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC020300 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035441 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC063514 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC066341 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC066961 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC070494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC073750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC104643 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC105802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM971420 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ887222 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D28463 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ496108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L20941 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M11146 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M12937 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M15383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M97164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X00318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X03487 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000273550   ⟹   ENSP00000273550
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1161,964,285 - 61,967,634 (-)Ensembl
Ensembl Acc Id: ENST00000526640   ⟹   ENSP00000433321
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1161,964,585 - 61,967,607 (-)Ensembl
Ensembl Acc Id: ENST00000529191   ⟹   ENSP00000431659
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1161,959,718 - 61,967,631 (-)Ensembl
Ensembl Acc Id: ENST00000529548   ⟹   ENSP00000436947
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1161,964,989 - 61,967,631 (-)Ensembl
Ensembl Acc Id: ENST00000529631   ⟹   ENSP00000431575
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1161,959,718 - 61,967,631 (-)Ensembl
Ensembl Acc Id: ENST00000530019   ⟹   ENSP00000433470
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1161,959,822 - 61,967,631 (-)Ensembl
Ensembl Acc Id: ENST00000532601   ⟹   ENSP00000435111
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1161,964,601 - 61,967,166 (-)Ensembl
Ensembl Acc Id: ENST00000532829   ⟹   ENSP00000432223
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1161,964,566 - 61,967,631 (-)Ensembl
Ensembl Acc Id: ENST00000533138
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1161,964,838 - 61,967,613 (-)Ensembl
Ensembl Acc Id: ENST00000534180   ⟹   ENSP00000434403
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1161,964,566 - 61,967,633 (-)Ensembl
Ensembl Acc Id: ENST00000534719
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1161,964,747 - 61,967,586 (-)Ensembl
Ensembl Acc Id: ENST00000620041   ⟹   ENSP00000484477
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1161,964,566 - 61,967,631 (-)Ensembl
RefSeq Acc Id: NM_002032   ⟹   NP_002023
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381161,964,285 - 61,967,634 (-)NCBI
GRCh371161,731,757 - 61,735,132 (-)ENTREZGENE
Build 361161,488,333 - 61,491,708 (-)NCBI Archive
HuRef1158,059,745 - 58,063,103 (-)ENTREZGENE
CHM1_11161,614,953 - 61,618,328 (-)NCBI
T2T-CHM13v2.01161,953,110 - 61,956,459 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_002023 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA35830 (Get FASTA)   NCBI Sequence Viewer  
  AAA35832 (Get FASTA)   NCBI Sequence Viewer  
  AAA35833 (Get FASTA)   NCBI Sequence Viewer  
  AAA52437 (Get FASTA)   NCBI Sequence Viewer  
  AAA52438 (Get FASTA)   NCBI Sequence Viewer  
  AAA52479 (Get FASTA)   NCBI Sequence Viewer  
  AAF89523 (Get FASTA)   NCBI Sequence Viewer  
  AAH00857 (Get FASTA)   NCBI Sequence Viewer  
  AAH01399 (Get FASTA)   NCBI Sequence Viewer  
  AAH11359 (Get FASTA)   NCBI Sequence Viewer  
  AAH13724 (Get FASTA)   NCBI Sequence Viewer  
  AAH15156 (Get FASTA)   NCBI Sequence Viewer  
  AAH16009 (Get FASTA)   NCBI Sequence Viewer  
  AAH16857 (Get FASTA)   NCBI Sequence Viewer  
  AAH63514 (Get FASTA)   NCBI Sequence Viewer  
  AAH66341 (Get FASTA)   NCBI Sequence Viewer  
  AAH66961 (Get FASTA)   NCBI Sequence Viewer  
  AAH70494 (Get FASTA)   NCBI Sequence Viewer  
  AAH73750 (Get FASTA)   NCBI Sequence Viewer  
  AAI04644 (Get FASTA)   NCBI Sequence Viewer  
  AAI05803 (Get FASTA)   NCBI Sequence Viewer  
  AAP82230 (Get FASTA)   NCBI Sequence Viewer  
  ABF47097 (Get FASTA)   NCBI Sequence Viewer  
  BAA05829 (Get FASTA)   NCBI Sequence Viewer  
  BAB93489 (Get FASTA)   NCBI Sequence Viewer  
  CAA25086 (Get FASTA)   NCBI Sequence Viewer  
  CAA27205 (Get FASTA)   NCBI Sequence Viewer  
  CAP19952 (Get FASTA)   NCBI Sequence Viewer  
  EAW73989 (Get FASTA)   NCBI Sequence Viewer  
  EAW73990 (Get FASTA)   NCBI Sequence Viewer  
  EAW73991 (Get FASTA)   NCBI Sequence Viewer  
  EAW73992 (Get FASTA)   NCBI Sequence Viewer  
  EAW73993 (Get FASTA)   NCBI Sequence Viewer  
  EAW73994 (Get FASTA)   NCBI Sequence Viewer  
  EAW73995 (Get FASTA)   NCBI Sequence Viewer  
  EAW73996 (Get FASTA)   NCBI Sequence Viewer  
  EAW73997 (Get FASTA)   NCBI Sequence Viewer  
  EAW73998 (Get FASTA)   NCBI Sequence Viewer  
  EAW73999 (Get FASTA)   NCBI Sequence Viewer  
  EAW74000 (Get FASTA)   NCBI Sequence Viewer  
  EAW74001 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000273550
  ENSP00000273550.7
  ENSP00000431575.1
  ENSP00000431659.1
  ENSP00000432223.1
  ENSP00000433321.1
  ENSP00000433470.1
  ENSP00000434403.1
  ENSP00000435111.1
  ENSP00000436947.1
  ENSP00000484477.1
GenBank Protein P02794 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_002023   ⟸   NM_002032
- UniProtKB: Q3KRA8 (UniProtKB/Swiss-Prot),   B3KNR5 (UniProtKB/Swiss-Prot),   Q3SWW1 (UniProtKB/Swiss-Prot),   P02794 (UniProtKB/Swiss-Prot),   B3KXC3 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000484477   ⟸   ENST00000620041
Ensembl Acc Id: ENSP00000433470   ⟸   ENST00000530019
Ensembl Acc Id: ENSP00000432223   ⟸   ENST00000532829
Ensembl Acc Id: ENSP00000435111   ⟸   ENST00000532601
Ensembl Acc Id: ENSP00000434403   ⟸   ENST00000534180
Ensembl Acc Id: ENSP00000273550   ⟸   ENST00000273550
Ensembl Acc Id: ENSP00000433321   ⟸   ENST00000526640
Ensembl Acc Id: ENSP00000431575   ⟸   ENST00000529631
Ensembl Acc Id: ENSP00000436947   ⟸   ENST00000529548
Ensembl Acc Id: ENSP00000431659   ⟸   ENST00000529191
Protein Domains
Ferritin-like diiron

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P02794-F1-model_v2 AlphaFold P02794 1-183 view protein structure

Promoters
RGD ID:6788819
Promoter ID:HG_KWN:13087
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000406545,   NM_002032,   UC009YNU.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361161,490,711 - 61,493,162 (-)MPROMDB
RGD ID:6849644
Promoter ID:EP11112
Type:single initiation site
Name:HS_FTH1
Description:Ferritin heavy chain.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Notes:homology_group=Homology group 135; Mammalian ferritin heavy chain.
Tissues & Cell Lines:heart
Experiment Methods:Primer extension; Nuclease protection; low-precision data
Position:
Human AssemblyChrPosition (strand)Source
Build 361161,491,680 - 61,491,740EPD
RGD ID:7220619
Promoter ID:EPDNEW_H16055
Type:initiation region
Name:FTH1_1
Description:ferritin heavy chain 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381161,967,631 - 61,967,691EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3976 AgrOrtholog
COSMIC FTH1 COSMIC
Ensembl Genes ENSG00000167996 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000273550 ENTREZGENE
  ENST00000273550.12 UniProtKB/Swiss-Prot
  ENST00000526640.5 UniProtKB/TrEMBL
  ENST00000529191.5 UniProtKB/TrEMBL
  ENST00000529548.1 UniProtKB/TrEMBL
  ENST00000529631.5 UniProtKB/TrEMBL
  ENST00000530019.5 UniProtKB/TrEMBL
  ENST00000532601.1 UniProtKB/TrEMBL
  ENST00000532829.5 UniProtKB/TrEMBL
  ENST00000534180.1 UniProtKB/TrEMBL
  ENST00000620041.5 UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.1260.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000167996 GTEx
HGNC ID HGNC:3976 ENTREZGENE
Human Proteome Map FTH1 Human Proteome Map
InterPro Ferritin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ferritin-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ferritin-like_diiron UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ferritin-like_SF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ferritin_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ferritin_DPS_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2495 UniProtKB/Swiss-Prot
NCBI Gene 2495 ENTREZGENE
OMIM 134770 OMIM
PANTHER FERRITIN HEAVY CHAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11431 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Ferritin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB FTH1 RGD, PharmGKB
PROSITE FERRITIN_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERRITIN_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERRITIN_LIKE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47240 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A9JQE1_HUMAN UniProtKB/TrEMBL
  B3KNR5 ENTREZGENE
  B3KXC3 ENTREZGENE, UniProtKB/TrEMBL
  E9PK45_HUMAN UniProtKB/TrEMBL
  E9PKM5_HUMAN UniProtKB/TrEMBL
  E9PKY7_HUMAN UniProtKB/TrEMBL
  E9PPQ4_HUMAN UniProtKB/TrEMBL
  E9PQR3_HUMAN UniProtKB/TrEMBL
  E9PRK8_HUMAN UniProtKB/TrEMBL
  FRIH_HUMAN UniProtKB/Swiss-Prot
  G3V192_HUMAN UniProtKB/TrEMBL
  G3V1D1_HUMAN UniProtKB/TrEMBL
  P02794 ENTREZGENE
  Q3KRA8 ENTREZGENE
  Q3SWW1 ENTREZGENE
  Q6NS36_HUMAN UniProtKB/TrEMBL
  Q6NZ44_HUMAN UniProtKB/TrEMBL
UniProt Secondary B3KNR5 UniProtKB/Swiss-Prot
  Q3KRA8 UniProtKB/Swiss-Prot
  Q3SWW1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-05-31 FTH1  ferritin heavy chain 1  FTH1  ferritin, heavy polypeptide 1  Symbol and/or name change 5135510 APPROVED