COMT catechol-O-methyltransferase [Homo sapiens (human)] - Gene

Summary

Official Symbol: COMTprovided by HGNC
Official Full Name: catechol-O-methyltransferaseprovided by HGNC
Primary source: HGNC:HGNC:2228
See related: Ensembl:ENSG00000093010 MIM:116790; AllianceGenome:HGNC:2228
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HEL-S-98n
Summary: Catechol-O-methyltransferase catalyzes the transfer of a methyl group from S-adenosylmethionine to catecholamines, including the neurotransmitters dopamine, epinephrine, and norepinephrine. This O-methylation results in one of the major degradative pathways of the catecholamine transmitters. In addition to its role in the metabolism of endogenous substances, COMT is important in the metabolism of catechol drugs used in the treatment of hypertension, asthma, and Parkinson disease. COMT is found in two forms in tissues, a soluble form (S-COMT) and a membrane-bound form (MB-COMT). The differences between S-COMT and MB-COMT reside within the N-termini. Several transcript variants are formed through the use of alternative translation initiation sites and promoters. [provided by RefSeq, Sep 2008]
Expression: Ubiquitous expression in placenta (RPKM 32.2), adrenal (RPKM 24.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 22q11.21

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (19941772..19969975)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (20319463..20347602)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (19929295..19957498)

Chromosome 22 - NC_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The relationship between COMT, proline, and negative symptoms in clinical high risk and recent psychosis onset.
Title: The relationship between COMT, proline, and negative symptoms in clinical high risk and recent psychosis onset.
Sex dimorphism controls dysbindin-related cognitive dysfunctions in mice and humans with the contribution of COMT.
Title: Sex dimorphism controls dysbindin-related cognitive dysfunctions in mice and humans with the contribution of COMT.
Neural indices of heritable impulsivity: Impact of the COMT Val158Met polymorphism on frontal beta power during early motor preparation.
Title: Neural indices of heritable impulsivity: Impact of the COMT Val158Met polymorphism on frontal beta power during early motor preparation.
An In Vitro Study for the Role of Schizophrenia-Related Potential miRNAs in the Regulation of COMT Gene.
Title: An In Vitro Study for the Role of Schizophrenia-Related Potential miRNAs in the Regulation of COMT Gene.
Age and Sex-related Chromogranin A Gene Polymorphisms and its Association with Metabolic Syndrome Components.
Title: Age and Sex-related Chromogranin A Gene Polymorphisms and its Association with Metabolic Syndrome Components.
Association of OPRM1 rs1799971, HTR1B rs6296 and COMT rs4680 polymorphisms with clinical phenotype among women with fibromyalgia.
Title: Association of OPRM1 rs1799971, HTR1B rs6296 and COMT rs4680 polymorphisms with clinical phenotype among women with fibromyalgia.
Dynamic DNA Methylation Changes in the COMT Gene Promoter Region in Response to Mental Stress and Its Modulation by Transcranial Direct Current Stimulation.
Title: Dynamic DNA Methylation Changes in the COMT Gene Promoter Region in Response to Mental Stress and Its Modulation by Transcranial Direct Current Stimulation.
Association of catechol-o-methyltransferase gene polymorphism with preeclampsia and biomarkers of oxidative stress: Study protocol for a prospective case-control study in Pakistan.
Title: Association of catechol-o-methyltransferase gene polymorphism with preeclampsia and biomarkers of oxidative stress: Study protocol for a prospective case-control study in Pakistan.
Catechol-O-methyltransferase gene (COMT) is associated with neurocognitive functioning in patients with sickle cell disease.
Title: Catechol-O-methyltransferase gene (COMT) is associated with neurocognitive functioning in patients with sickle cell disease.
Association between executive functions and COMT Val108/158Met polymorphism among healthy younger and older adults: A preliminary study.
Title: Association between executive functions and COMT Val108/158Met polymorphism among healthy younger and older adults: A preliminary study.

Submit: New GeneRIF Correction See all GeneRIFs (1571)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Panic disorder 1 MedGen: C1868649 OMIM: 167870 GeneReviews: Not available	not available
Schizophrenia MedGen: C0036341 OMIM: 181500 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
An atlas of genetic influences on human blood metabolites. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Vpr	vpr	HIV-1 Vpr is identified to have a physical interaction with catechol-O-methyltransferase (COMT) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G66727 (e-PCR)
- UniSTS:166914

G66728 (e-PCR)
- UniSTS:166915

RH93076 (e-PCR)
- UniSTS:88333

PMC130047P3 (e-PCR)
- UniSTS:270610

RH27791 (e-PCR)
- UniSTS:88375

PMC20764P1 (e-PCR)
- UniSTS:271976

WI-22519 (e-PCR)
- UniSTS:1396

RH17808 (e-PCR)
- UniSTS:23486

D22S873 (e-PCR)
- UniSTS:259318

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables O-methyltransferase activity	TAS Traceable Author Statement more info	PubMed
enables catechol O-methyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables catechol O-methyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables catechol O-methyltransferase activity	TAS Traceable Author Statement more info
enables magnesium ion binding	IEA Inferred from Electronic Annotation more info
enables methyltransferase activity	TAS Traceable Author Statement more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in artery development	IEA Inferred from Electronic Annotation more info
involved_in behavioral fear response	IEA Inferred from Electronic Annotation more info
involved_in catecholamine catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in catecholamine catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to cocaine	IEA Inferred from Electronic Annotation more info
involved_in cellular response to phosphate starvation	IEA Inferred from Electronic Annotation more info
involved_in cerebellar cortex morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in cholesterol efflux	IEA Inferred from Electronic Annotation more info
involved_in detection of temperature stimulus involved in sensory perception of pain	IEA Inferred from Electronic Annotation more info
involved_in developmental process	IBA Inferred from Biological aspect of Ancestor more info
involved_in dopamine catabolic process	TAS Traceable Author Statement more info
involved_in dopamine metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in dopamine secretion	IEA Inferred from Electronic Annotation more info
involved_in exploration behavior	IEA Inferred from Electronic Annotation more info
involved_in gene expression	IEA Inferred from Electronic Annotation more info
involved_in glomerulus development	IEA Inferred from Electronic Annotation more info
involved_in glycogen metabolic process	IEA Inferred from Electronic Annotation more info
involved_in habituation	IEA Inferred from Electronic Annotation more info
involved_in mastication	IEA Inferred from Electronic Annotation more info
involved_in memory	IEA Inferred from Electronic Annotation more info
involved_in methylation	IDA Inferred from Direct Assay more info	PubMed
involved_in methylation	TAS Traceable Author Statement more info
involved_in multicellular organism growth	IEA Inferred from Electronic Annotation more info
involved_in norepinephrine metabolic process	IEA Inferred from Electronic Annotation more info
involved_in norepinephrine secretion	IEA Inferred from Electronic Annotation more info
involved_in prostaglandin metabolic process	IEA Inferred from Electronic Annotation more info
involved_in renal albumin absorption	IEA Inferred from Electronic Annotation more info
involved_in renal filtration	IEA Inferred from Electronic Annotation more info
involved_in renal sodium excretion	IEA Inferred from Electronic Annotation more info
involved_in renin secretion into blood stream	IEA Inferred from Electronic Annotation more info
involved_in response to amphetamine	IEA Inferred from Electronic Annotation more info
involved_in response to angiotensin	IEA Inferred from Electronic Annotation more info
involved_in response to corticosterone	IEA Inferred from Electronic Annotation more info
involved_in response to cytokine	IEA Inferred from Electronic Annotation more info
involved_in response to dopamine	IEA Inferred from Electronic Annotation more info
involved_in response to food	IEA Inferred from Electronic Annotation more info
involved_in response to hypoxia	IEA Inferred from Electronic Annotation more info
involved_in response to oxidative stress	IEA Inferred from Electronic Annotation more info
involved_in response to salt	IEA Inferred from Electronic Annotation more info
involved_in response to toxic substance	IEA Inferred from Electronic Annotation more info
involved_in response to wounding	IEA Inferred from Electronic Annotation more info
involved_in response to xenobiotic stimulus	IEA Inferred from Electronic Annotation more info
involved_in startle response	IEA Inferred from Electronic Annotation more info
involved_in synaptic transmission, dopaminergic	IEA Inferred from Electronic Annotation more info
involved_in visual learning	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in axon	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
is_active_in dendrite	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular exosome	HDA more info	PubMed
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in membrane	HDA more info	PubMed
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info
located_in synapse	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: catechol O-methyltransferase

Names: epididymis secretory sperm binding protein Li 98n; testicular tissue protein Li 42

NP_000745.1

EC 2.1.1.6

NP_001128633.1

EC 2.1.1.6

NP_001128634.1

EC 2.1.1.6

NP_001349757.1

EC 2.1.1.6

NP_009294.1

EC 2.1.1.6

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_011526.1 RefSeqGene

Range

5001..33236

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1010

mRNA and Protein(s)

NM_000754.4 → NP_000745.1 catechol O-methyltransferase isoform MB-COMT

See identical proteins and their annotated locations for NP_000745.1

Status: REVIEWED

Description

Transcript Variant: This variant (1, also known as MB-COMT) represents the predominant transcript and encodes the longer isoform (MB-COMT). Variants 1, 2, 3, and 5 all encode isoform MB-COMT and may also make the shorter isoform S-COMT at a low level. MB-COMT is a membrane-bound protein.

Source sequence(s)

AC005663, AK290440, BX461394

Consensus CDS

CCDS13770.1

UniProtKB/Swiss-Prot

A8MPV9, P21964, Q6IB07, Q6ICE6, Q9BWC7

UniProtKB/TrEMBL

A0A140VJG8, B8XPJ8

Related

ENSP00000354511.6, ENST00000361682.11

Conserved Domains (1) summary

COG4122
Location:51 → 264

YrrM; Predicted O-methyltransferase YrrM [General function prediction only]
NM_001135161.2 → NP_001128633.1 catechol O-methyltransferase isoform MB-COMT

See identical proteins and their annotated locations for NP_001128633.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3, and 5 all encode isoform MB-COMT and may also make the shorter isoform S-COMT at a low level. MB-COMT is a membrane-bound protein.

Source sequence(s)

AC005663, AK290440, BE386545

Consensus CDS

CCDS13770.1

UniProtKB/Swiss-Prot

A8MPV9, P21964, Q6IB07, Q6ICE6, Q9BWC7

UniProtKB/TrEMBL

A0A140VJG8, B8XPJ8

Related

ENSP00000403958.1, ENST00000412786.5

Conserved Domains (1) summary

COG4122
Location:51 → 264

YrrM; Predicted O-methyltransferase YrrM [General function prediction only]
NM_001135162.2 → NP_001128634.1 catechol O-methyltransferase isoform MB-COMT

See identical proteins and their annotated locations for NP_001128634.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3, and 5 all encode isoform MB-COMT and may also make the shorter isoform S-COMT at a low level. MB-COMT is a membrane-bound protein.

Source sequence(s)

AC005663, AK290440, BE728779

Consensus CDS

CCDS13770.1

UniProtKB/Swiss-Prot

A8MPV9, P21964, Q6IB07, Q6ICE6, Q9BWC7

UniProtKB/TrEMBL

A0A140VJG8, B8XPJ8

Related

ENSP00000385150.3, ENST00000406520.7

Conserved Domains (1) summary

COG4122
Location:51 → 264

YrrM; Predicted O-methyltransferase YrrM [General function prediction only]
NM_001362828.2 → NP_001349757.1 catechol O-methyltransferase isoform MB-COMT

Status: REVIEWED

Description

Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3, and 5 all encode isoform MB-COMT and may also make the shorter isoform S-COMT at a low level. MB-COMT is a membrane-bound protein.

Source sequence(s)

AC000090, AC005663

Consensus CDS

CCDS13770.1

UniProtKB/Swiss-Prot

A8MPV9, P21964, Q6IB07, Q6ICE6, Q9BWC7

UniProtKB/TrEMBL

A0A140VJG8, B8XPJ8

Related

ENSP00000385917.1, ENST00000403710.5

Conserved Domains (1) summary

COG4122
Location:51 → 264

YrrM; Predicted O-methyltransferase YrrM [General function prediction only]
NM_007310.3 → NP_009294.1 catechol O-methyltransferase isoform S-COMT

See identical proteins and their annotated locations for NP_009294.1

Status: REVIEWED

Description

Transcript Variant: This variant (4, also known as S-COMT) contains a shorter 5' UTR and a translation start site which lies 50 codons downstream compared to that of variant 1. The resulting isoform (S-COMT) is shorter at the N-terminus compared to isoform MB-COMT. S-COMT is a soluble protein.

Source sequence(s)

AC005663, AK290440

Consensus CDS

CCDS46663.1

UniProtKB/TrEMBL

B8XPJ7

Related

ENSP00000416778.1, ENST00000449653.5

Conserved Domains (1) summary

COG4122
Location:1 → 177

YrrM; Predicted O-methyltransferase YrrM [General function prediction only]