PNMT (phenylethanolamine N-methyltransferase)

2007-02-01  

Identity

HGNC
LOCATION
17q12
LOCUSID
ALIAS
PENT,PNMTase
FUSION GENES

Other Information

Locus ID:

NCBI: 5409
MIM: 171190
HGNC: 9160
Ensembl: ENSG00000141744

Variants:

dbSNP: 5409
ClinVar: 5409
TCGA: ENSG00000141744
COSMIC: PNMT

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000141744ENST00000269582P11086
ENSG00000141744ENST00000394246A8MT87
ENSG00000141744ENST00000581428J3QRI3

Expression (GTEx)

0
5
10
15
20
25
30
35

Pathways

PathwaySourceExternal ID
Tyrosine metabolismKEGGko00350
Tyrosine metabolismKEGGhsa00350
Metabolic pathwaysKEGGhsa01100
Catecholamine biosynthesis, tyrosine => dopamine => noradrenaline => adrenalineKEGGhsa_M00042
Catecholamine biosynthesis, tyrosine => dopamine => noradrenaline => adrenalineKEGGM00042
MetabolismREACTOMER-HSA-1430728
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Amine-derived hormonesREACTOMER-HSA-209776
Catecholamine biosynthesisREACTOMER-HSA-209905

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
168943952006The analysis of 51 genes in DSM-IV combined type attention deficit hyperactivity disorder: association signals in DRD4, DAT1 and 16 other genes.153
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
189378422008The influence of serotonin- and other genes on impulsive behavioral aggression and cognitive impulsivity in children with attention-deficit/hyperactivity disorder (ADHD): Findings from a family-based association test (FBAT) analysis.63
190860532009Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment.34
204680642010Association study of 182 candidate genes in anorexia nervosa.30
111408382000A multivariate analysis of 59 candidate genes in personality traits: the temperament and character inventory.20
150108122004Evolutionary recombination hotspot around GSDML-GSDM locus is closely linked to the oncogenomic recombination hotspot around the PPP1R1B-ERBB2-GRB7 amplicon.16
171171802006HapMap-based study of the 17q21 ERBB2 amplicon in susceptibility to breast cancer.16
145539662003Association of polymorphisms in the promoter region of the PNMT gene with essential hypertension in African Americans but not in whites.11
145539662003Association of polymorphisms in the promoter region of the PNMT gene with essential hypertension in African Americans but not in whites.11

Citation

Dessen P

PNMT (phenylethanolamine N-methyltransferase)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46493/pnmt