PNMT (phenylethanolamine N-methyltransferase)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5409
Gene name Gene Name - the full gene name approved by the HGNC.
Phenylethanolamine N-methyltransferase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PNMT
Synonyms (NCBI Gene) Gene synonyms aliases
PENT, PNMTase
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q12
Summary Summary of gene provided in NCBI Entrez Gene.
The product of this gene catalyzes the last step of the catecholamine biosynthesis pathway, which methylates norepinephrine to form epinephrine (adrenaline). The enzyme also has beta-carboline 2N-methyltransferase activity. This gene is thought to play a
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
miRTarBase ID miRNA Experiments Reference
MIRT029157 hsa-miR-26b-5p Microarray 19088304
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(14)
GO ID Ontology Definition Evidence Reference
GO:0004603 Function Phenylethanolamine N-methyltransferase activity IBA
GO:0004603 Function Phenylethanolamine N-methyltransferase activity IDA 8812853
GO:0004603 Function Phenylethanolamine N-methyltransferase activity IEA
GO:0004603 Function Phenylethanolamine N-methyltransferase activity IMP 16277617, 20496117
GO:0004603 Function Phenylethanolamine N-methyltransferase activity TAS 2835776
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
171190 9160 ENSG00000141744
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P11086
Protein name Phenylethanolamine N-methyltransferase (PNMTase) (EC 2.1.1.28) (Noradrenaline N-methyltransferase)
Protein function Catalyzes the transmethylation of nonepinephrine (noradrenaline) to form epinephrine (adrenaline), using S-adenosyl-L-methionine as the methyl donor (PubMed:20496117). Other substrates include phenylethanolamine and octopamine (PubMed:16277617,
PDB 1HNN , 1N7I , 1N7J , 1YZ3 , 2AN3 , 2AN4 , 2AN5 , 2G70 , 2G71 , 2G72 , 2G8N , 2OBF , 2ONY , 2ONZ , 2OPB , 3HCA , 3HCB , 3HCC , 3HCD , 3HCE , 3HCF , 3KPJ , 3KPU , 3KPV , 3KPW , 3KPY , 3KQM , 3KQO , 3KQP , 3KQQ , 3KQS , 3KQT , 3KQV , 3KQW , 3KQY , 3KR0 , 3KR1 , 3KR2 , 4DM3 , 4MIK , 4MQ4 , 6WS1 , 7TWU , 7TX2
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01234 NNMT_PNMT_TEMT 14 → 279 NNMT/PNMT/TEMT family Family
Sequence
Sequence length 282
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Tyrosine metabolism
Metabolic pathways 		  Catecholamine biosynthesis
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Heart Failure Heart failure N/A N/A GWAS
Pancreatic adenocarcinoma Pancreatic ductal adenocarcinoma N/A N/A GWAS
Show/Hide Text Mining Associations (23)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Acute Kidney Injury Associate 20090367
Acute Pain Associate 32162598
Adrenal Hyperplasia Congenital Associate 36583008
Anemia Sickle Cell Associate 32162598
Breast Neoplasms Associate 17157792
Carcinogenesis Associate 20187983
Cerebral Infarction Associate 26352407
Neoplasms Associate 20187983
Neoplasms Inhibit 27007161, 35046208
Obesity Associate 12634439