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
Description: Predicted to enable 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
Also 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
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1739,667,981 - 39,670,475 (+)EnsemblGRCh38hg38GRCh38
GRCh381739,668,019 - 39,670,475 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371737,824,272 - 37,826,728 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361735,078,033 - 35,080,254 (+)NCBINCBI36hg18NCBI36
Build 341735,078,032 - 35,080,254NCBI
Celera1734,484,236 - 34,486,457 (+)NCBI
Cytogenetic Map17q12NCBI
HuRef1733,618,165 - 33,620,658 (+)NCBIHuRef
CHM1_11738,060,055 - 38,062,549 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

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

Additional References at PubMed
PMID:1303174   PMID:2835776   PMID:3372503   PMID:3945626   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: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:20504532   PMID:20628086   PMID:21044950   PMID:21297633   PMID:21866188   PMID:21873635   PMID:24018397   PMID:27007161   PMID:28319085   PMID:28514442   PMID:31855300   PMID:32296183  


Genomics

Comparative Map Data
PNMT
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1739,667,981 - 39,670,475 (+)EnsemblGRCh38hg38GRCh38
GRCh381739,668,019 - 39,670,475 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371737,824,272 - 37,826,728 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361735,078,033 - 35,080,254 (+)NCBINCBI36hg18NCBI36
Build 341735,078,032 - 35,080,254NCBI
Celera1734,484,236 - 34,486,457 (+)NCBI
Cytogenetic Map17q12NCBI
HuRef1733,618,165 - 33,620,658 (+)NCBIHuRef
CHM1_11738,060,055 - 38,062,549 (+)NCBICHM1_1
Pnmt
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391198,277,449 - 98,279,006 (+)NCBIGRCm39mm39
GRCm39 Ensembl1198,277,276 - 98,279,007 (+)Ensembl
GRCm381198,386,623 - 98,388,180 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1198,386,450 - 98,388,181 (+)EnsemblGRCm38mm10GRCm38
MGSCv371198,247,946 - 98,249,411 (+)NCBIGRCm37mm9NCBIm37
MGSCv361198,202,722 - 98,204,187 (+)NCBImm8
Celera11108,040,856 - 108,042,321 (+)NCBICelera
Cytogenetic Map11DNCBI
Pnmt
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21083,383,019 - 83,386,557 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl1083,384,923 - 83,386,556 (+)Ensembl
Rnor_6.01086,340,893 - 86,342,501 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1086,340,940 - 86,342,858 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01086,137,019 - 86,138,436 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
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 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495545114,414,836 - 14,417,972 (+)NCBIChiLan1.0ChiLan1.0
PNMT
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11717,835,277 - 17,837,180 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1717,835,277 - 17,837,180 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01717,618,399 - 17,620,691 (-)NCBIMhudiblu_PPA_v0panPan3
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 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha922,280,958 - 22,282,522 (-)NCBI
ROS_Cfam_1.0923,602,151 - 23,603,715 (-)NCBI
UMICH_Zoey_3.1922,374,797 - 22,376,361 (-)NCBI
UNSW_CanFamBas_1.0922,635,796 - 22,637,358 (-)NCBI
UU_Cfam_GSD_1.0922,760,897 - 22,762,461 (-)NCBI
Pnmt
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560222,213,520 - 22,217,186 (-)NCBI
SpeTri2.0NW_00493649014,858,682 - 14,861,614 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PNMT
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1222,648,397 - 22,650,002 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
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 (-)NCBI
ChlSab1.1 Ensembl1666,496,027 - 66,499,111 (-)Ensembl
Vero_WHO_p1.0NW_02366607737,407,873 - 37,410,511 (-)NCBI
Pnmt
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247953,408,559 - 3,410,669 (-)NCBI

Position Markers
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 Map17qUniSTS
Cytogenetic Map17q12UniSTS
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

miRNA Target Status

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.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High 3
Medium 611 571 309 20 61 10 1040 803 1758 16 282 234 10 174 858
Low 1601 1948 933 190 690 61 3019 1326 1883 218 1025 1105 132 966 1832 2
Below cutoff 180 446 361 303 732 285 237 42 37 102 100 193 29 64 97 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000269582   ⟹   ENSP00000269582
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1739,668,453 - 39,670,475 (+)Ensembl
RefSeq Acc Id: ENST00000394246   ⟹   ENSP00000377791
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1739,667,981 - 39,670,473 (+)Ensembl
RefSeq Acc Id: ENST00000581428   ⟹   ENSP00000464234
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 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
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
Sequence:
RefSeq Acc Id: XM_011524909   ⟹   XP_011523211
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381739,668,689 - 39,670,475 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_002677   ⟸   NM_002686
- UniProtKB: P11086 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011523211   ⟸   XM_011524909
- Peptide Label: isoform X1
- UniProtKB: A8MT87 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000464234   ⟸   ENST00000581428
RefSeq Acc Id: ENSP00000269582   ⟸   ENST00000269582
RefSeq Acc Id: ENSP00000377791   ⟸   ENST00000394246

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

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 17q12-21.31(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
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
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 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [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.123G>A (p.Ala41=) single nucleotide variant not provided [RCV000894120] Chr17:39668598 [GRCh38]
Chr17:37824851 [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

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9160 AgrOrtholog
COSMIC PNMT COSMIC
Ensembl Genes ENSG00000141744 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000269582 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000377791 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000464234 UniProtKB/TrEMBL
Ensembl Transcript ENST00000269582 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000394246 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000581428 UniProtKB/TrEMBL
GTEx ENSG00000141744 GTEx
HGNC ID HGNC:9160 ENTREZGENE
Human Proteome Map PNMT Human Proteome Map
InterPro NNMT/PNMT/TEMT_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NNMT_TEMT_trans UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM-dependent_MTases UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5409 UniProtKB/Swiss-Prot
NCBI Gene 5409 ENTREZGENE
OMIM 171190 OMIM
PANTHER PTHR10867 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam NNMT_PNMT_TEMT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA274 PharmGKB, RGD
PIRSF PNMTase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE NNMT_PNMT_TEMT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM_MT_NNMT_PNMT_TEMT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF53335 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8MT87 ENTREZGENE, UniProtKB/TrEMBL
  J3QRI3_HUMAN UniProtKB/TrEMBL
  P11086 ENTREZGENE, UniProtKB/Swiss-Prot
  Q6FHD9_HUMAN UniProtKB/TrEMBL