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50 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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COMT
catechol-O-methyltransferase
Chromosome 22 · 22q11.21
NCBI Gene: 1312Ensembl: ENSG00000093010.16HGNC: HGNC:2228UniProt: A0A140VJG8
2,076PubMed Papers
21Diseases
4Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
RESEARCH IMPACT
Highly Studied
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
catechol O-methyltransferase activityendoplasmic reticulumcatecholamine catabolic processmembraneParkinson diseaseresponse to tramadolhair colorHepatic failure
✦AI Summary

COMT (catechol-O-methyltransferase) encodes an enzyme that catalyzes the O-methylation and inactivation of catecholamine neurotransmitters, particularly dopamine, thereby regulating their biological half-lives. The enzyme also metabolizes catechol hormones and neuroactive drugs like L-DOPA [UniProt]. The most studied polymorphism is Val158Met (rs4680), which affects enzyme activity and subsequently dopamine levels in the brain 1. This polymorphism influences individual differences in self-consciousness and self-flexibility, with Val/Val genotypes (lower dopamine) showing higher private self-consciousness 1. COMT variants demonstrate ethnic-specific associations with disease susceptibility. In Asian populations, the Val158Met polymorphism shows significant association with Parkinson's disease risk, particularly in Japanese individuals 2, though meta-analyses suggest this is not a major risk determinant overall 3. For schizophrenia, the rs165599 polymorphism shows no general association, but sex-specific analysis reveals G allele carriers have increased risk in females 4. COMT variants also contribute to ethnic differences in pain sensitivity 5 and may influence antidepressive treatment response, particularly for electroconvulsive therapy 6. However, associations with tardive dyskinesia risk appear limited 7.

Sources cited
1
COMT Val158Met polymorphism modulates dopamine levels and influences private self-consciousness and self-flexibility
PMID: 27522491
2
Val158Met polymorphism is significantly associated with Parkinson's disease risk in Asian populations, particularly Japanese
PMID: 25060648
3
Meta-analysis suggests COMT rs4680 polymorphism is not a major determinant of Parkinson's disease risk overall
PMID: 24819480
4
COMT rs165599 polymorphism shows no general association with schizophrenia but G allele increases risk in females
PMID: 30165727
5
COMT gene variants contribute to ethnic differences in experimental pain sensitivity
PMID: 32024434
6
COMT rs4680 variants may be associated with better response to electroconvulsive therapy in depression
PMID: 31972309
7
COMT Val158Met polymorphism shows no significant association with tardive dyskinesia susceptibility
PMID: 26398367
Disease Associationsⓘ21
Parkinson diseaseOpen Targets
0.63Moderate
response to tramadolOpen Targets
0.55Moderate
hair colorOpen Targets
0.48Moderate
Hepatic failureOpen Targets
0.37Weak
type 2 diabetes mellitusOpen Targets
0.36Weak
internet addiction disorderOpen Targets
0.36Weak
Bardet-Biedl syndromeOpen Targets
0.34Weak
mathematical abilityOpen Targets
0.27Weak
restless legs syndromeOpen Targets
0.26Weak
schizophreniaOpen Targets
0.24Weak
obsessive-compulsive disorderOpen Targets
0.23Weak
cocaine dependenceOpen Targets
0.20Weak
dilated cardiomyopathyOpen Targets
0.19Weak
Abnormality of the cardiovascular systemOpen Targets
0.19Weak
familial glucocorticoid deficiencyOpen Targets
0.17Weak
panic disorder 1Open Targets
0.15Weak
attention deficit hyperactivity disorderOpen Targets
0.13Weak
22q11.2 deletion syndromeOpen Targets
0.13Weak
familial hypertrophic cardiomyopathyOpen Targets
0.12Weak
breast cancerOpen Targets
0.11Weak
SchizophreniaUniProt
Pathogenic Variants1
NM_000754.4(COMT):c.575_576insT (p.Trp193fs)Pathogenic
Bardet-Biedl syndrome
★☆☆☆→ Residue 193
View on ClinVar ↗
Drug Targets4
ENTACAPONEApproved
Catechol O-methyltransferase inhibitor
Parkinson disease
NEBICAPONEPhase II
Catechol O-methyltransferase inhibitor
Parkinson disease
OPICAPONEApproved
Catechol O-methyltransferase inhibitor
Parkinson disease
TOLCAPONEApproved
Catechol O-methyltransferase inhibitor
Related Genes
UGT1A9Protein interaction100%UGT1A3Protein interaction100%SLC6A4Protein interaction98%PNMTProtein interaction97%THProtein interaction97%HTR2AProtein interaction96%
Tissue Expression6 tissues
Liver
100%
Ovary
50%
Lung
45%
Heart
36%
Bone Marrow
33%
Brain
26%
Gene Interaction Network
Click a node to explore
COMTUGT1A9UGT1A3SLC6A4PNMTTHHTR2A
PROTEIN STRUCTURE
Preparing viewer…
PDB3BWY · 1.30 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.13LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.71 [0.46–1.13]
RankingsWhere COMT stands among ~20K protein-coding genes
  • #54of 20,598
    Most Researched2,076 · top 1%
  • #437of 1,025
    FDA-Approved Drug Targets3
  • #4,594of 5,498
    Most Pathogenic Variants1
  • #11,657of 17,882
    Most Constrained (LOEUF)1.13
Genes detectedCOMT
Sources retrieved50 papers
Response time—
📄 Sources
50▼
1
COMT gene and risk for Parkinson's disease: a systematic review and meta-analysis.
PMID: 24819480
Pharmacogenet Genomics · 2014
1.00
2
The association between COMT Val158Met gene polymorphism and antipsychotic-induced tardive dyskinesia risk.
PMID: 26398367
Int J Neurosci · 2016
0.90
3
Catechol-O-methyltransferase, Cognition and Alzheimer's Disease.
PMID: 29231139
Curr Alzheimer Res · 2018
0.86
4
Influence of
PMID: 35457347
Int J Environ Res Public Health · 2022
0.84
5
[Interaction between
PMID: 39725396
Zhongguo Dang Dai Er Ke Za Zhi · 2024
0.80