PNMT (phenylethanolamine N-methyltransferase) - Rat Genome Database

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Gene: PNMT (phenylethanolamine N-methyltransferase) Homo sapiens
Analyze
Symbol: PNMT
Name: phenylethanolamine N-methyltransferase
RGD ID: 732850
HGNC Page HGNC:9160
Description: Enables phenylethanolamine N-methyltransferase activity. Predicted to be involved in catecholamine biosynthetic process. Predicted to be active in cytosol. Implicated in Alzheimer's disease; hypertension; and multiple sclerosis.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: MGC34570; noradrenaline N-methyltransferase; PENT; phenylethanolamine N-methylase; PNMTase
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Black Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381739,668,019 - 39,670,475 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1739,667,981 - 39,670,475 (+)Ensemblhg38GRCh38
GRCh371737,824,272 - 37,826,728 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361735,078,033 - 35,080,254 (+)NCBIBuild 36Build 36hg18NCBI36
Build 341735,078,032 - 35,080,254NCBI
Celera1734,484,236 - 34,486,457 (+)NCBICelera
Cytogenetic Map17q12NCBI
HuRef1733,618,165 - 33,620,658 (+)NCBIHuRef
CHM1_11738,060,055 - 38,062,549 (+)NCBICHM1_1
T2T-CHM13v2.01740,531,584 - 40,534,040 (+)NCBIT2T-CHM13v2.0
JBrowse:




Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
axon  (ISO)
cytosol  (IBA,TAS)
dendrite  (ISO)
neuronal cell body  (ISO)
perikaryon  (ISO)
terminal bouton  (ISO)
varicosity  (ISO)

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Regulation of the adrenomedullary catecholaminergic system after mild, acute stress. Betito K, etal., Am J Physiol. 1994 Jul;267(1 Pt 2):R212-20.
2. Activation of Different Neuronal Phenotypes in the Rat Brain Induced by Liver Ischemia-Reperfusion Injury: Dual Fos/Neuropeptide Immunohistochemistry. Bundzikova J, etal., Cell Mol Neurobiol. 2010 Nov 9.
3. Association of polymorphisms in the promoter region of the PNMT gene with essential hypertension in African Americans but not in whites. Cui J, etal., Am J Hypertens. 2003 Oct;16(10):859-63.
4. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
5. Effects of diabetes and recurrent hypoglycemia on the regulation of the sympathoadrenal system and hypothalamo-pituitary-adrenal axis. Inouye KE, etal., Am J Physiol Endocrinol Metab. 2005 Feb;288(2):E422-9. Epub 2004 Oct 19.
6. Effects of insulin treatment without and with recurrent hypoglycemia on hypoglycemic counterregulation and adrenal catecholamine-synthesizing enzymes in diabetic rats. Inouye KE, etal., Endocrinology. 2006 Apr;147(4):1860-70. Epub 2006 Jan 5.
7. Genetic regulation of catecholamine synthesis, storage and secretion in the spontaneously hypertensive rat. Jirout ML, etal., Hum Mol Genet. 2010 Jul 1;19(13):2567-80. Epub 2010 Apr 8.
8. Resequencing PNMT in European hypertensive and normotensive individuals: no common susceptibilily variants for hypertension and purifying selection on intron 1. Kepp K, etal., BMC Med Genet. 2007 Jul 23;8:47.
9. Catecholaminergic systems in stress: structural and molecular genetic approaches. Kvetnansky R, etal., Physiol Rev. 2009 Apr;89(2):535-606.
10. Phenylethanolamine N-methyltransferase (PNMT) gene and early-onset Alzheimer disease. Mann MB, etal., Am J Med Genet. 2001 May 8;105(4):312-6.
11. Association between the phenylethanolamine N-methyltransferase gene and multiple sclerosis. Mann MB, etal., J Neuroimmunol 2002 Mar;124(1-2):101-5.
12. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
13. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
14. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
15. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
16. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
17. Expression levels of mRNAs for catecholamine biosynthetic enzymes as markers of acute response to contusion stress during the early postmortem period. Takahashi S Tohoku J Exp Med. 2008 Nov;216(3):239-48.
18. Cholinergic and peptidergic regulation of phenylethanolamine N-methyltransferase gene expression. Wong DL, etal., Ann N Y Acad Sci 2002 Oct;971:19-26.
Additional References at PubMed
PMID:1303174   PMID:2835776   PMID:3372503   PMID:3945626   PMID:8812853   PMID:9578504   PMID:9645429   PMID:11140838   PMID:11807261   PMID:11900856   PMID:12438093   PMID:12477932  
PMID:12634439   PMID:15010812   PMID:15489334   PMID:15848714   PMID:15893506   PMID:15968085   PMID:16277617   PMID:16363801   PMID:16645894   PMID:16894395   PMID:17117180   PMID:17207965  
PMID:17544870   PMID:18349382   PMID:18702937   PMID:18715275   PMID:18937842   PMID:19086053   PMID:19343046   PMID:19570037   PMID:19733262   PMID:19913121   PMID:19952402   PMID:20090367  
PMID:20204374   PMID:20468064   PMID:20496117   PMID:20504532   PMID:20628086   PMID:21044950   PMID:21297633   PMID:21866188   PMID:21873635   PMID:24018397   PMID:27007161   PMID:28319085  
PMID:28514442   PMID:31855300   PMID:32296183   PMID:34933717   PMID:35269556   PMID:37952980   PMID:40593736  


Genomics

Comparative Map Data
PNMT
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381739,668,019 - 39,670,475 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1739,667,981 - 39,670,475 (+)Ensemblhg38GRCh38
GRCh371737,824,272 - 37,826,728 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361735,078,033 - 35,080,254 (+)NCBIBuild 36Build 36hg18NCBI36
Build 341735,078,032 - 35,080,254NCBI
Celera1734,484,236 - 34,486,457 (+)NCBICelera
Cytogenetic Map17q12NCBI
HuRef1733,618,165 - 33,620,658 (+)NCBIHuRef
CHM1_11738,060,055 - 38,062,549 (+)NCBICHM1_1
T2T-CHM13v2.01740,531,584 - 40,534,040 (+)NCBIT2T-CHM13v2.0
Pnmt
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391198,277,449 - 98,279,006 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1198,277,276 - 98,279,007 (+)EnsemblGRCm39 EnsemblGRCm39
GRCm381198,386,623 - 98,388,180 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1198,386,450 - 98,388,181 (+)Ensemblmm10GRCm38
MGSCv371198,247,946 - 98,249,411 (+)NCBIMGSCv37MGSCv37mm9NCBIm37
MGSCv361198,202,722 - 98,204,187 (+)NCBIMGSCv36mm8
Celera11108,040,856 - 108,042,321 (+)NCBICelera
Cytogenetic Map11DNCBI
cM Map1161.75NCBI
Pnmt
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81083,881,211 - 83,882,849 (+)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl1083,881,185 - 83,882,849 (+)EnsemblGRCr8
mRatBN7.21083,383,019 - 83,386,557 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1083,384,923 - 83,386,556 (+)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx1088,329,223 - 88,330,891 (+)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01087,827,308 - 87,828,976 (+)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01083,219,959 - 83,221,627 (+)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.01086,340,893 - 86,342,501 (+)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1086,340,940 - 86,342,858 (+)Ensemblrn6Rnor6.0
Rnor_5.01086,137,019 - 86,138,436 (+)NCBIRnor_5.0Rnor_5.0rn5
Celera1082,132,183 - 82,134,127 (+)NCBICelera
Cytogenetic Map10q31NCBI
Pnmt
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545114,416,121 - 14,417,901 (+)Ensembl
ChiLan1.0NW_00495545114,414,836 - 14,417,972 (+)NCBIChiLan1.0ChiLan1.0
PNMT
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21925,284,931 - 25,287,216 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11727,179,738 - 27,182,015 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01717,618,399 - 17,620,691 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11717,835,277 - 17,837,180 (-)NCBIPanPan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1717,835,277 - 17,837,180 (-)EnsemblpanPan2panpan1.1
PNMT
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1922,808,505 - 22,810,587 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl922,808,601 - 22,810,551 (-)EnsemblcanFam3CanFam3.1
Dog10K_Boxer_Tasha922,280,958 - 22,282,522 (-)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.0923,602,151 - 23,603,715 (-)NCBIROS_Cfam_1.0ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl923,602,151 - 23,604,794 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1922,374,797 - 22,376,361 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0922,635,796 - 22,637,358 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0922,760,897 - 22,762,461 (-)NCBIUU_Cfam_GSD_1.0UU_Cfam_GSD_1.0
Pnmt
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560222,213,520 - 22,217,186 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493649014,858,603 - 14,865,321 (+)EnsemblSpeTri2.0 Ensembl
SpeTri2.0NW_00493649014,858,682 - 14,861,614 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PNMT
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1222,648,398 - 22,649,999 (-)EnsemblsusScr11Sscrofa11.1
Sscrofa11.11222,648,396 - 22,651,520 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21223,110,418 - 23,111,803 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PNMT
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11666,496,290 - 66,498,840 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1666,496,027 - 66,499,111 (-)EnsemblChlSab1.1 EnsemblchlSab2Vervet-AGM
Vero_WHO_p1.0NW_02366607737,407,873 - 37,410,511 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Pnmt
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247953,408,627 - 3,410,304 (-)EnsemblHetGla_female_1.0 EnsemblhetGla2HetGla_female_1.0 Ensembl
HetGla 1.0NW_0046247953,408,559 - 3,410,669 (-)NCBIHetGla 1.0HetGla 1.0hetGla2
Pnmt
(Rattus rattus - black rat)
Black Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rrattus_CSIRO_v1956,005,929 - 56,007,492 (-)NCBIRrattus_CSIRO_v1

Variants

.
Variants in PNMT
39 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3 copy number gain See cases [RCV000050957] Chr17:36449220..68170214 [GRCh38]
Chr17:48563237..65936105 [GRCh37]
Chr17:45918236..63677950 [NCBI36]
Chr17:17q21.33-24.2		 pathogenic
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] Chr17:36449220..83086677 [GRCh38]
Chr17:58617905..81044553 [GRCh37]
Chr17:55972687..78637842 [NCBI36]
Chr17:17q23.2-25.3		 pathogenic
GRCh38/hg38 17q12(chr17:39036037-39694679)x3 copy number gain See cases [RCV000140753] Chr17:39036037..39694679 [GRCh38]
Chr17:37192290..37850932 [GRCh37]
Chr17:34445816..35104458 [NCBI36]
Chr17:17q12		 likely benign|uncertain significance
GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3 copy number gain See cases [RCV000137437] Chr17:36449220..75053130 [GRCh38]
Chr17:57595736..73049225 [GRCh37]
Chr17:54950518..70560820 [NCBI36]
Chr17:17q23.1-25.1		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17q12(chr17:37313691-37868516)x3 copy number gain See cases [RCV000512247] Chr17:37313691..37868516 [GRCh37]
Chr17:17q12		 uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3 copy number gain See cases [RCV000052479] Chr17:39199873..45629579 [GRCh38]
Chr17:37356126..43706945 [GRCh37]
Chr17:34609652..41062728 [NCBI36]
Chr17:17q12-21.31		 pathogenic
NM_002686.4(PNMT):c.369G>C (p.Trp123Cys) single nucleotide variant not specified [RCV004292732] Chr17:39669795 [GRCh38]
Chr17:37826048 [GRCh37]
Chr17:17q12		 uncertain significance
GRCh37/hg19 17q12(chr17:36972794-38033708)x4 copy number gain not provided [RCV000683933] Chr17:36972794..38033708 [GRCh37]
Chr17:17q12		 uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17q12(chr17:37387413-37879941)x3 copy number gain not provided [RCV000739510] Chr17:37387413..37879941 [GRCh37]
Chr17:17q12		 benign
GRCh37/hg19 17q12(chr17:37822171-37826537)x1 copy number loss not provided [RCV000752033] Chr17:37822171..37826537 [GRCh37]
Chr17:17q12		 benign
NM_002686.4(PNMT):c.523G>A (p.Ala175Thr) single nucleotide variant not provided [RCV000949599] Chr17:39670063 [GRCh38]
Chr17:37826316 [GRCh37]
Chr17:17q12		 benign
GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3 copy number gain not provided [RCV000846852] Chr17:21690653..38772647 [GRCh37]
Chr17:17p11.2-q21.2		 pathogenic
GRCh37/hg19 17q12(chr17:37190609-37868002)x3 copy number gain not provided [RCV000849616] Chr17:37190609..37868002 [GRCh37]
Chr17:17q12		 uncertain significance
NC_000017.10:g.(?_37821613)_(38458253_?)dup duplication Hypertrophic cardiomyopathy 25 [RCV003113302] Chr17:37821613..38458253 [GRCh37]
Chr17:17q12-21.2		 uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NM_002686.4(PNMT):c.123G>A (p.Ala41=) single nucleotide variant not provided [RCV000894120] Chr17:39668598 [GRCh38]
Chr17:37824851 [GRCh37]
Chr17:17q12		 benign
NM_002686.4(PNMT):c.251T>C (p.Val84Ala) single nucleotide variant not specified [RCV004236852] Chr17:39669677 [GRCh38]
Chr17:37825930 [GRCh37]
Chr17:17q12		 uncertain significance
NM_002686.4(PNMT):c.478C>T (p.His160Tyr) single nucleotide variant not specified [RCV004092547] Chr17:39670018 [GRCh38]
Chr17:37826271 [GRCh37]
Chr17:17q12		 uncertain significance
NM_002686.4(PNMT):c.217C>T (p.Arg73Cys) single nucleotide variant not specified [RCV004200298] Chr17:39669643 [GRCh38]
Chr17:37825896 [GRCh37]
Chr17:17q12		 uncertain significance
NM_002686.4(PNMT):c.109C>T (p.Arg37Cys) single nucleotide variant not specified [RCV004116269] Chr17:39668584 [GRCh38]
Chr17:37824837 [GRCh37]
Chr17:17q12		 uncertain significance
NM_002686.4(PNMT):c.134G>C (p.Gly45Ala) single nucleotide variant not specified [RCV004177693] Chr17:39668609 [GRCh38]
Chr17:37824862 [GRCh37]
Chr17:17q12		 uncertain significance
NM_002686.4(PNMT):c.250G>A (p.Val84Met) single nucleotide variant not specified [RCV004235389] Chr17:39669676 [GRCh38]
Chr17:37825929 [GRCh37]
Chr17:17q12		 uncertain significance
NM_002686.4(PNMT):c.838G>C (p.Val280Leu) single nucleotide variant not specified [RCV004262595] Chr17:39670378 [GRCh38]
Chr17:37826631 [GRCh37]
Chr17:17q12		 uncertain significance
NM_002686.4(PNMT):c.122C>T (p.Ala41Val) single nucleotide variant not specified [RCV004096460] Chr17:39668597 [GRCh38]
Chr17:37824850 [GRCh37]
Chr17:17q12		 uncertain significance
NM_002686.4(PNMT):c.734G>A (p.Arg245His) single nucleotide variant not specified [RCV004204624] Chr17:39670274 [GRCh38]
Chr17:37826527 [GRCh37]
Chr17:17q12		 likely benign
NM_002686.4(PNMT):c.142T>C (p.Cys48Arg) single nucleotide variant not specified [RCV004196708] Chr17:39668617 [GRCh38]
Chr17:37824870 [GRCh37]
Chr17:17q12		 uncertain significance
NM_002686.4(PNMT):c.619C>T (p.Pro207Ser) single nucleotide variant not specified [RCV004360485] Chr17:39670159 [GRCh38]
Chr17:37826412 [GRCh37]
Chr17:17q12		 uncertain significance
NM_002686.4(PNMT):c.221C>T (p.Thr74Ile) single nucleotide variant not specified [RCV004509796] Chr17:39669647 [GRCh38]
Chr17:37825900 [GRCh37]
Chr17:17q12		 uncertain significance
NM_002686.4(PNMT):c.355G>C (p.Gly119Arg) single nucleotide variant not specified [RCV004509798] Chr17:39669781 [GRCh38]
Chr17:37826034 [GRCh37]
Chr17:17q12		 uncertain significance
NM_002686.4(PNMT):c.673G>T (p.Gly225Trp) single nucleotide variant not specified [RCV004509800] Chr17:39670213 [GRCh38]
Chr17:37826466 [GRCh37]
Chr17:17q12		 uncertain significance
NM_002686.4(PNMT):c.176G>A (p.Arg59His) single nucleotide variant not specified [RCV004509795] Chr17:39668651 [GRCh38]
Chr17:37824904 [GRCh37]
Chr17:17q12		 uncertain significance
NM_002686.4(PNMT):c.298A>G (p.Thr100Ala) single nucleotide variant not specified [RCV004509797] Chr17:39669724 [GRCh38]
Chr17:37825977 [GRCh37]
Chr17:17q12		 uncertain significance
NM_002686.4(PNMT):c.53C>T (p.Pro18Leu) single nucleotide variant not specified [RCV005395939] Chr17:39668528 [GRCh38]
Chr17:37824781 [GRCh37]
Chr17:17q12		 uncertain significance
NM_002686.4(PNMT):c.641T>C (p.Ile214Thr) single nucleotide variant not specified [RCV005395941] Chr17:39670181 [GRCh38]
Chr17:37826434 [GRCh37]
Chr17:17q12		 uncertain significance
NM_002686.4(PNMT):c.334C>T (p.Arg112Cys) single nucleotide variant not provided [RCV005428587] Chr17:39669760 [GRCh38]
Chr17:37826013 [GRCh37]
Chr17:17q12		 likely benign
NM_002686.4(PNMT):c.814G>A (p.Val272Ile) single nucleotide variant not specified [RCV005395938] Chr17:39670354 [GRCh38]
Chr17:37826607 [GRCh37]
Chr17:17q12		 likely benign
NM_002686.4(PNMT):c.211T>G (p.Ser71Ala) single nucleotide variant not specified [RCV004324382] Chr17:39669637 [GRCh38]
Chr17:37825890 [GRCh37]
Chr17:17q12		 uncertain significance
NM_002686.4(PNMT):c.386A>G (p.His129Arg) single nucleotide variant not specified [RCV004509799] Chr17:39669812 [GRCh38]
Chr17:37826065 [GRCh37]
Chr17:17q12		 uncertain significance
NM_002686.4(PNMT):c.70G>T (p.Ala24Ser) single nucleotide variant not specified [RCV004509801] Chr17:39668545 [GRCh38]
Chr17:37824798 [GRCh37]
Chr17:17q12		 uncertain significance
NM_002686.4(PNMT):c.10G>A (p.Ala4Thr) single nucleotide variant not specified [RCV004653561] Chr17:39668485 [GRCh38]
Chr17:37824738 [GRCh37]
Chr17:17q12		 uncertain significance
NM_002686.4(PNMT):c.676G>A (p.Glu226Lys) single nucleotide variant not specified [RCV004662394] Chr17:39670216 [GRCh38]
Chr17:37826469 [GRCh37]
Chr17:17q12		 uncertain significance
NM_002686.4(PNMT):c.62C>A (p.Ala21Glu) single nucleotide variant not specified [RCV004662395] Chr17:39668537 [GRCh38]
Chr17:37824790 [GRCh37]
Chr17:17q12		 uncertain significance
GRCh37/hg19 17q12-22(chr17:41196270-41277589) copy number loss Breast-ovarian cancer, familial, susceptibility to, 1 [RCV004759419] Chr17:41196270..41277589 [GRCh37]
Chr17:17q12-22		 pathogenic
NM_002686.4(PNMT):c.224T>C (p.Leu75Pro) single nucleotide variant not specified [RCV004845129] Chr17:39669650 [GRCh38]
Chr17:37825903 [GRCh37]
Chr17:17q12		 uncertain significance
NM_002686.4(PNMT):c.110G>T (p.Arg37Leu) single nucleotide variant not specified [RCV004845125] Chr17:39668585 [GRCh38]
Chr17:37824838 [GRCh37]
Chr17:17q12		 uncertain significance
NM_002686.4(PNMT):c.776C>T (p.Pro259Leu) single nucleotide variant not specified [RCV004845128] Chr17:39670316 [GRCh38]
Chr17:37826569 [GRCh37]
Chr17:17q12		 uncertain significance
NM_002686.4(PNMT):c.472G>A (p.Asp158Asn) single nucleotide variant not specified [RCV004845126] Chr17:39670012 [GRCh38]
Chr17:37826265 [GRCh37]
Chr17:17q12		 uncertain significance
NM_002686.4(PNMT):c.320G>A (p.Arg107His) single nucleotide variant not specified [RCV005395940] Chr17:39669746 [GRCh38]
Chr17:37825999 [GRCh37]
Chr17:17q12		 uncertain significance
NM_002686.4(PNMT):c.154G>A (p.Gly52Ser) single nucleotide variant not specified [RCV005395942] Chr17:39668629 [GRCh38]
Chr17:37824882 [GRCh37]
Chr17:17q12		 uncertain significance
NM_002686.4(PNMT):c.554A>T (p.Glu185Val) single nucleotide variant not specified [RCV005395944] Chr17:39670094 [GRCh38]
Chr17:37826347 [GRCh37]
Chr17:17q12		 uncertain significance
NM_002686.4(PNMT):c.416G>A (p.Cys139Tyr) single nucleotide variant not specified [RCV005395943] Chr17:39669956 [GRCh38]
Chr17:37826209 [GRCh37]
Chr17:17q12		 uncertain significance
NM_002686.4(PNMT):c.719G>C (p.Arg240Thr) single nucleotide variant not specified [RCV005395936] Chr17:39670259 [GRCh38]
Chr17:37826512 [GRCh37]
Chr17:17q12		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:1009
Count of miRNA genes:488
Interacting mature miRNAs:547
Transcripts:ENST00000269582, ENST00000394246, ENST00000581428
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
628771384GWAS2679613_Hasthma, cardiovascular disease QTL GWAS2679613 (human)2e-16asthma, cardiovascular disease173966829239668293Human
617275330GWAS2212106_Hpolyunsaturated fatty acid measurement QTL GWAS2212106 (human)2e-10polyunsaturated fatty acid measurement173966808639668087Human
617286851GWAS2223627_Homega-6 polyunsaturated fatty acid measurement QTL GWAS2223627 (human)3e-10omega-6 polyunsaturated fatty acid measurement173966808639668087Human
628654065GWAS2562294_Hheart failure QTL GWAS2562294 (human)2e-08heart integrity trait (VT:0010757)173966808639668087Human
407151825GWAS800801_HQT interval QTL GWAS800801 (human)6e-09QT interval173966808639668087Human
597127759GWAS1223833_Hasthma, cardiovascular disease QTL GWAS1223833 (human)2e-16asthma, cardiovascular disease173966829239668293Human
407116509GWAS765485_Hpancreatic carcinoma QTL GWAS765485 (human)0.000001pancreas integrity trait (VT:0010560)173966829239668293Human
407283098GWAS932074_Hfree cholesterol:total lipids ratio, high density lipoprotein cholesterol measurement QTL GWAS932074 (human)2e-12free cholesterol:total lipids ratio, high density lipoprotein cholesterol measurement173966808639668087Human
597193478GWAS1289552_Hheart failure QTL GWAS1289552 (human)2e-08heart failure173966808639668087Human
407046812GWAS695788_Hheart failure QTL GWAS695788 (human)2e-08heart failure173966808639668087Human
628935587GWAS2843816_Homega-6 polyunsaturated fatty acid measurement QTL GWAS2843816 (human)3e-10fatty acid amount (VT:0010046)173966808639668087Human
406928160GWAS577136_Hsleep duration, high density lipoprotein cholesterol measurement QTL GWAS577136 (human)3e-12sleep duration, high density lipoprotein cholesterol measurement173966808639668087Human
597279998GWAS1376072_HQT interval QTL GWAS1376072 (human)6e-09QT interval173966808639668087Human
597046014GWAS1142088_Hsleep duration, high density lipoprotein cholesterol measurement QTL GWAS1142088 (human)3e-12sleep duration, high density lipoprotein cholesterol measurement173966808639668087Human
628594398GWAS2502627_Hfree cholesterol:total lipids ratio, high density lipoprotein cholesterol measurement QTL GWAS2502627 (human)2e-12blood HDL cholesterol amount (VT:0000184)blood high density lipoprotein cholesterol level (CMO:0000052)173966808639668087Human
628917334GWAS2825563_Hpolyunsaturated fatty acid measurement QTL GWAS2825563 (human)8e-09milk polyunsaturated fatty acid amount (VT:0010374)milk polyunsaturated fatty acid measurement (CMO:0000821)173966808639668087Human
617290087GWAS2226863_Hpolyunsaturated fatty acid measurement QTL GWAS2226863 (human)8e-09polyunsaturated fatty acid measurement173966808639668087Human
407214376GWAS863352_Hasthma, cardiovascular disease QTL GWAS863352 (human)2e-16asthma, cardiovascular disease173966829239668293Human
628420165GWAS2328394_Hsleep duration trait, high density lipoprotein cholesterol measurement QTL GWAS2328394 (human)3e-12blood HDL cholesterol amount (VT:0000184)blood high density lipoprotein cholesterol level (CMO:0000052)173966808639668087Human
597149477GWAS1245551_Hfree cholesterol:total lipids ratio, high density lipoprotein cholesterol measurement QTL GWAS1245551 (human)2e-12free cholesterol:total lipids ratio, high density lipoprotein cholesterol measurement173966808639668087Human
628461377GWAS2369606_Hsmoking status measurement QTL GWAS2369606 (human)4e-08blood HDL cholesterol amount (VT:0000184)blood high density lipoprotein cholesterol level (CMO:0000052)173966808639668087Human
1298406BP16_HBlood pressure QTL 16 (human)0.0004Blood pressurehypertension susceptibility171477864740778647Human
407122353GWAS771329_Hsmoking status measurement QTL GWAS771329 (human)4e-08cholesterol:total lipids ratio, high density lipoprotein cholesterol measurement173966808639668087Human
598006930GWAS1726229_Hsleep duration trait, high density lipoprotein cholesterol measurement QTL GWAS1726229 (human)3e-12sleep duration trait, high density lipoprotein cholesterol measurement173966808639668087Human
597152288GWAS1248362_Hcholesterol:total lipids ratio, high density lipoprotein cholesterol measurement QTL GWAS1248362 (human)4e-08smoking status measurement173966808639668087Human
597813846GWAS1681237_Hhigh density lipoprotein cholesterol measurement QTL GWAS1681237 (human)3e-12high density lipoprotein cholesterol measurement173966808639668087Human
628944779GWAS2853008_Hpolyunsaturated fatty acid measurement QTL GWAS2853008 (human)2e-10milk polyunsaturated fatty acid amount (VT:0010374)milk polyunsaturated fatty acid measurement (CMO:0000821)173966808639668087Human
628900097GWAS2808326_HQT interval QTL GWAS2808326 (human)6e-09heart electrical impulse conduction trait (VT:2000017)QT interval (CMO:0000235)173966808639668087Human

Markers in Region
RH66625  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371737,822,560 - 37,822,702UniSTSGRCh37
Build 361735,076,086 - 35,076,228RGDNCBI36
Celera1734,482,289 - 34,482,431RGD
Cytogenetic Map17qUniSTS
Cytogenetic Map17q12UniSTS
HuRef1733,616,491 - 33,616,633UniSTS
GeneMap99-GB4 RH Map17307.67UniSTS
RH75065  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371737,826,626 - 37,826,705UniSTSGRCh37
Build 361735,080,152 - 35,080,231RGDNCBI36
Celera1734,486,355 - 34,486,434RGD
Cytogenetic Map17qUniSTS
HuRef1733,620,556 - 33,620,635UniSTS
GDB:178582  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371737,826,575 - 37,826,847UniSTSGRCh37
Build 361735,080,101 - 35,080,373RGDNCBI36
Celera1734,486,304 - 34,486,576RGD
Cytogenetic Map17qUniSTS
HuRef1733,620,505 - 33,620,777UniSTS
RH41770  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371737,822,537 - 37,822,706UniSTSGRCh37
Build 361735,076,063 - 35,076,232RGDNCBI36
Celera1734,482,266 - 34,482,435RGD
Cytogenetic Map17q12UniSTS
Cytogenetic Map17qUniSTS
HuRef1733,616,468 - 33,616,637UniSTS
GeneMap99-GB4 RH Map17304.28UniSTS
NCBI RH Map17442.6UniSTS
RH71449  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371737,826,599 - 37,826,761UniSTSGRCh37
Build 361735,080,125 - 35,080,287RGDNCBI36
Celera1734,486,328 - 34,486,490RGD
Cytogenetic Map17qUniSTS
GeneMap99-GB4 RH Map17304.32UniSTS
NCBI RH Map17445.1UniSTS


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 2392 2787 2226 4855 1606 2161 3 513 1483 356 2209 6618 6000 32 3678 766 1691 1535 171

Sequence


Ensembl Acc Id: ENST00000269582   ⟹   ENSP00000269582
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1739,668,453 - 39,670,475 (+)Ensembl
Ensembl Acc Id: ENST00000394246   ⟹   ENSP00000377791
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1739,667,981 - 39,670,473 (+)Ensembl
Ensembl Acc Id: ENST00000581428   ⟹   ENSP00000464234
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1739,668,463 - 39,670,090 (+)Ensembl
RefSeq Acc Id: NM_002686   ⟹   NP_002677
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381739,668,453 - 39,670,475 (+)NCBI
GRCh371737,824,234 - 37,826,728 (+)NCBI
Build 361735,078,033 - 35,080,254 (+)NCBI Archive
HuRef1733,618,165 - 33,620,658 (+)NCBI
CHM1_11738,060,527 - 38,062,549 (+)NCBI
T2T-CHM13v2.01740,532,018 - 40,534,040 (+)NCBI
Sequence:
RefSeq Acc Id: NR_073461
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381739,668,019 - 39,670,475 (+)NCBI
HuRef1733,618,165 - 33,620,658 (+)NCBI
CHM1_11738,060,055 - 38,062,549 (+)NCBI
T2T-CHM13v2.01740,531,584 - 40,534,040 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011524909   ⟹   XP_011523211
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381739,668,616 - 39,670,475 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054316518   ⟹   XP_054172493
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01740,532,256 - 40,534,040 (+)NCBI
RefSeq Acc Id: NP_002677   ⟸   NM_002686
- UniProtKB: P11086 (UniProtKB/Swiss-Prot),   Q6FHD9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011523211   ⟸   XM_011524909
- Peptide Label: isoform X1
- UniProtKB: A8MT87 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000464234   ⟸   ENST00000581428
Ensembl Acc Id: ENSP00000269582   ⟸   ENST00000269582
Ensembl Acc Id: ENSP00000377791   ⟸   ENST00000394246
RefSeq Acc Id: XP_054172493   ⟸   XM_054316518
- Peptide Label: isoform X1
- UniProtKB: A8MT87 (UniProtKB/TrEMBL)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P11086-F1-model_v2 AlphaFold P11086 1-282 view protein structure

Promoters
RGD ID:6794441
Promoter ID:HG_KWN:25999
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   K562,   NB4
Transcripts:ENST00000394246,   NM_002686
Position:
Human AssemblyChrPosition (strand)Source
Build 361735,077,446 - 35,078,372 (+)MPROMDB
RGD ID:7234857
Promoter ID:EPDNEW_H23174
Type:initiation region
Name:PNMT_1
Description:phenylethanolamine N-methyltransferase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23175  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381739,668,019 - 39,668,079EPDNEW
RGD ID:7234859
Promoter ID:EPDNEW_H23175
Type:initiation region
Name:PNMT_2
Description:phenylethanolamine N-methyltransferase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23174  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381739,668,453 - 39,668,513EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9160 AgrOrtholog
COSMIC PNMT COSMIC
Ensembl Genes ENSG00000141744 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000269582 ENTREZGENE
  ENST00000269582.3 UniProtKB/Swiss-Prot
  ENST00000394246 ENTREZGENE
Gene3D-CATH 3.40.50.150 UniProtKB/Swiss-Prot
GTEx ENSG00000141744 GTEx
HGNC ID HGNC:9160 ENTREZGENE
Human Proteome Map PNMT Human Proteome Map
InterPro NNMT/PNMT/TEMT_CS UniProtKB/Swiss-Prot
  NNMT_TEMT_trans UniProtKB/Swiss-Prot
  SAM-dep_methyltransferase UniProtKB/Swiss-Prot
  SAM-dependent_MTases UniProtKB/Swiss-Prot
KEGG Report hsa:5409 UniProtKB/Swiss-Prot
NCBI Gene 5409 ENTREZGENE
OMIM 171190 OMIM
PANTHER PHENYLETHANOLAMINE N-METHYLTRANSFERASE UniProtKB/Swiss-Prot
  PTHR10867 UniProtKB/Swiss-Prot
Pfam NNMT_PNMT_TEMT UniProtKB/Swiss-Prot
PharmGKB PA274 PharmGKB, RGD
PIRSF PNMTase UniProtKB/Swiss-Prot
PROSITE NNMT_PNMT_TEMT UniProtKB/Swiss-Prot
  SAM_MT_NNMT_PNMT_TEMT UniProtKB/Swiss-Prot
Superfamily-SCOP SSF53335 UniProtKB/Swiss-Prot
UniProt A8MT87 ENTREZGENE, UniProtKB/TrEMBL
  J3QRI3_HUMAN UniProtKB/TrEMBL
  P11086 ENTREZGENE, UniProtKB/Swiss-Prot
  Q6FHD9 ENTREZGENE, UniProtKB/TrEMBL