COMT (catechol-O-methyltransferase)

2003-08-01  

Identity

HGNC
LOCATION
22q11.21
LOCUSID
ALIAS
HEL-S-98n
FUSION GENES

Other Information

Locus ID:

NCBI: 1312
MIM: 116790
HGNC: 2228
Ensembl: ENSG00000093010

Variants:

dbSNP: 1312
ClinVar: 1312
TCGA: ENSG00000093010
COSMIC: COMT

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000093010ENST00000207636F8WBW9
ENSG00000093010ENST00000361682P21964
ENSG00000093010ENST00000361682A0A140VJG8
ENSG00000093010ENST00000403184E7EUU8
ENSG00000093010ENST00000403710P21964
ENSG00000093010ENST00000403710A0A140VJG8
ENSG00000093010ENST00000406520P21964
ENSG00000093010ENST00000406520A0A140VJG8
ENSG00000093010ENST00000407537P21964
ENSG00000093010ENST00000407537A0A140VJG8
ENSG00000093010ENST00000412786E7EMS6
ENSG00000093010ENST00000428707H7BZ45
ENSG00000093010ENST00000449653P21964

Expression (GTEx)

0
10
20
30
40
50
60
70
80

Pathways

PathwaySourceExternal ID
Steroid hormone biosynthesisKEGGko00140
Tyrosine metabolismKEGGko00350
Steroid hormone biosynthesisKEGGhsa00140
Tyrosine metabolismKEGGhsa00350
Metabolic pathwaysKEGGhsa01100
Dopaminergic synapseKEGGko04728
Dopaminergic synapseKEGGhsa04728
Neuronal SystemREACTOMER-HSA-112316
Transmission across Chemical SynapsesREACTOMER-HSA-112315
Neurotransmitter Clearance In The Synaptic CleftREACTOMER-HSA-112311
Dopamine clearance from the synaptic cleftREACTOMER-HSA-379401
Enzymatic degradation of dopamine by COMTREACTOMER-HSA-379397
Enzymatic degradation of Dopamine by monoamine oxidaseREACTOMER-HSA-379398
MetabolismREACTOMER-HSA-1430728
Biological oxidationsREACTOMER-HSA-211859
Phase II conjugationREACTOMER-HSA-156580
MethylationREACTOMER-HSA-156581

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA133822447catecholaminesChemicalVipGeneassociated
PA162263533nephrotoxicityDiseaseClinicalAnnotationassociatedPD28560854
PA162263534OtotoxicityDiseaseClinicalAnnotationassociatedPD19898482, 23588304, 23820299, 24642735, 25141953, 25551397, 28445188, 28448657
PA164712362AnalgesicsChemicalClinicalAnnotationassociated25096645
PA164712462Antiinflammatory agents, non-steroidsChemicalClinicalAnnotationassociated25096645
PA164712720Drugs used in nicotine dependenceChemicalVariantAnnotationassociatedPD26555332
PA164712741Ergot alkaloidsChemicalClinicalAnnotationassociated25096645
PA164712898MethyldopaChemicalVipGeneassociated
PA164713257Selective serotonin reuptake inhibitorsChemicalClinicalAnnotation, Literature, MultilinkAnnotationassociatedPD24930681
PA164747026trihexyphenidylChemicalVipGeneassociated
PA164748726entacaponeChemicalClinicalAnnotationassociatedPD21280081
PA166119022methamphetamine dependenceDiseaseClinicalAnnotationassociatedPD
PA166123046cessationDiseaseVariantAnnotationassociatedPD26555332
PA166131303etoposide catecholChemicalVipGeneassociated
PA166151827adverse eventsDiseaseClinicalAnnotationassociatedPD30549211
PA166156024rs4680VariantVipGeneassociated10963624, 11150892, 11401913, 11434504, 11525417, 11990384, 12372660, 12729939, 12815736, 14520117, 14575568, 14610521, 14637391, 15098000, 15115916, 15124004, 15388245, 15455371, 15465976, 15522252, 15538046, 15645182, 16191465, 16421368, 16702905, 8725388, 9407957, 9535125, 9605753, 9855007, 10519398
PA166185626somnolenceDiseaseClinicalAnnotationassociatedPD30281924
PA443560Breast NeoplasmsDiseaseVipGeneassociated10963624, 11401913, 11434504, 14575568, 14637391, 15098000, 15124004, 15388245, 15455371, 15538046, 15645182, 16191465, 16421368, 8725388, 9407957, 9605753, 9855007, 10519398
PA443842DeathDiseaseClinicalAnnotationassociatedPD27061230
PA443928DizzinessDiseaseClinicalAnnotationassociatedPD31745220
PA443937Drug ToxicityDiseaseClinicalAnnotationassociatedPD19898482, 23588304, 23820299, 24642735, 25141953, 25551397, 28445188, 28448657
PA444510HyperalgesiaDiseaseClinicalAnnotationassociatedPD
PA445042NarcolepsyDiseaseVipGeneassociated11990384, 12359690, 12465073, 12605099, 15956988, 9352569, 9631418, 11840516
PA445043Opioid-Related DisordersDiseaseClinicalAnnotation, VipGeneassociatedPD12595695, 15098000, 15124004, 15645182, 15927391, 16421368, 8725388, 9259381, 11054766, 27061230, 30549211, 32407152
PA445062NeoplasmsDiseaseClinicalAnnotationassociatedPD19898482, 23588304, 23820299, 24642735, 25141953, 25551397, 28445188, 28448657, 28560854
PA445208PainDiseaseClinicalAnnotation, VipGeneassociatedPD19514130, 21398039, 23302985, 23686330, 23773341, 24533707, 25155931, 25185591, 26902643, 27027462, 28006928, 28745577, 29474345
PA445254Parkinson DiseaseDiseaseClinicalAnnotation, Literature, MultilinkAnnotation, VipGeneassociatedPD11990384, 12359690, 12465073, 12605099, 15956988, 9352569, 9631418, 11840516, 21280081, 24819480
PA445876Tobacco Use DisorderDiseaseClinicalAnnotation, VipGeneassociatedPD12595695, 15927391, 9259381, 11054766, 11927842, 16395295, 16876132, 18192898, 22695756, 26555332
PA446444Low Back PainDiseaseClinicalAnnotationassociatedPD19514130, 21398039, 23302985, 23686330, 23773341, 25155931, 25185591, 26902643, 27027462, 28006928, 28745577, 29474345
PA447196Anxiety DisordersDiseaseClinicalAnnotation, VipGeneassociatedPD11990384, 12359690, 12465073, 12605099, 15956988, 9352569, 9631418, 11840516, 22417933, 23706899, 28627776
PA447197Attention Deficit Disorder with HyperactivityDiseaseClinicalAnnotationassociatedPD18214865, 18703939, 21550019, 22149470, 23131881, 24035255, 24763183, 29230023
PA447199Bipolar DisorderDiseaseVipGeneassociated11990384, 12359690, 12465073, 12605099, 15956988, 9352569, 9631418, 11840516
PA447207Depressive DisorderDiseaseClinicalAnnotation, VipGeneassociatedPD11990384, 12359690, 12465073, 12605099, 15956988, 9352569, 9631418, 11840516, 22417933, 23706899, 28627776
PA447211Obsessive-Compulsive DisorderDiseaseVipGeneassociated11990384, 12359690, 12465073, 12605099, 15956988, 9352569, 9631418, 11840516
PA447212Panic DisorderDiseaseVipGeneassociated11990384, 12359690, 12465073, 12605099, 15956988, 9352569, 9631418, 11840516
PA447216SchizophreniaDiseaseClinicalAnnotation, VipGeneassociatedPD11525417, 11990384, 12372660, 12729939, 12815736, 14520117, 14610521, 15098000, 15115916, 15124004, 15465976, 15522252, 15645182, 16421368, 16702905, 8725388, 9535125, 11150892, 19451915, 22391769, 22935916, 23963056, 25560469, 26282453
PA447218Sexual Dysfunctions, PsychologicalDiseaseClinicalAnnotationassociatedPD31745220
PA447268tardive dyskinesiaDiseaseClinicalAnnotationassociatedPD18180754
PA447321Depressive Disorder, MajorDiseaseClinicalAnnotationassociatedPD18989660, 20619611
PA448591benztropineChemicalVipGeneassociated
PA448685buprenorphineChemicalClinicalAnnotationassociatedPD30549211
PA448687bupropionChemicalClinicalAnnotationassociatedPD16876132
PA449014cisplatinChemicalClinicalAnnotationassociatedPD19898482, 23588304, 23820299, 24642735, 25141953, 25551397, 28445188, 28448657, 28560854
PA449061clozapineChemicalClinicalAnnotationassociatedPD25560469
PA449599fentanylChemicalClinicalAnnotationassociatedPD30281924, 30549211
PA449690fluvoxamineChemicalClinicalAnnotationassociatedPD20619611
PA449841haloperidolChemicalClinicalAnnotation, MultilinkAnnotation, VipGeneassociatedPD23963056, 27023437
PA450213levodopaChemicalVipGeneassociated
PA450243lithiumChemicalVipGeneassociated
PA450401methadoneChemicalClinicalAnnotationassociatedPD19514130, 21398039, 23302985, 23686330, 23773341, 25155931, 25185591, 26902643, 27027462, 28006928, 28745577, 29474345, 32407152
PA450464methylphenidateChemicalClinicalAnnotationassociatedPD18214865, 18703939, 21550019, 22149470, 23131881, 24035255, 24763183, 29230023
PA450530modafinilChemicalClinicalAnnotation, VipGeneassociatedPD11990384, 12359690, 12465073, 12605099, 15956988, 9352569, 9631418, 11840516
PA450550morphineChemicalClinicalAnnotation, VipGeneassociatedPD12595695, 15927391, 9259381, 11054766, 19514130, 21398039, 23302985, 23686330, 23773341, 25155931, 25185591, 26902643, 27027462, 28006928, 28745577, 29474345
PA450626nicotineChemicalClinicalAnnotationassociatedPD11927842, 16395295, 18192898, 22695756, 26555332
PA450649norepinephrineChemicalVipGeneassociated
PA450688olanzapineChemicalVipGeneassociated
PA450741oxycodoneChemicalClinicalAnnotationassociatedPD19514130, 21398039, 23302985, 23686330, 23773341, 25155931, 25185591, 26902643, 27027462, 28006928, 28745577, 29474345
PA450801paroxetineChemicalClinicalAnnotation, VipGeneassociatedPD18989660
PA451201quetiapineChemicalClinicalAnnotation, VipGeneassociatedPD26282453
PA451232remifentanilChemicalClinicalAnnotationassociatedPD19514130, 21398039, 23302985, 23686330, 23773341, 25155931, 25185591, 26902643, 27027462, 28006928, 28745577, 29474345
PA451257risperidoneChemicalClinicalAnnotation, VipGeneassociatedPD19451915, 22935916
PA451333sertralineChemicalVipGeneassociated
PA451527sufentanilChemicalClinicalAnnotationassociatedPD19514130, 21398039, 23302985, 23686330, 23773341, 25155931, 25185591, 26902643, 27027462, 28006928, 28745577, 29474345
PA451566sumatriptanChemicalClinicalAnnotationassociated25096645
PA451735tramadolChemicalClinicalAnnotation, Literature, MultilinkAnnotationambiguousPD19514130, 21398039, 23302985, 23686330, 23773341, 24624916, 25155931, 25185591, 26902643, 27027462, 28006928, 28745577, 29474345, 30549211
PA451846valproic acidChemicalVipGeneassociated
PA451866venlafaxineChemicalClinicalAnnotationassociatedPD22417933, 23706899, 28627776
PA452233antipsychoticsChemicalClinicalAnnotation, VipGeneassociatedPD11525417, 11990384, 12372660, 12729939, 12815736, 14520117, 14610521, 15115916, 15465976, 15522252, 16702905, 9535125, 11150892, 18180754, 22391769, 25048416
PA452618opioidsChemicalClinicalAnnotationassociatedPD19514130, 21398039, 23302985, 23686330, 23773341, 24533707, 25096645, 25155931, 25185591, 26902643, 27027462, 27061230, 28006928, 28745577, 29474345, 31745220
PA452619heroinChemicalVipGeneassociated

References

Pubmed IDYearTitleCitations
113811112001Effect of COMT Val108/158 Met genotype on frontal lobe function and risk for schizophrenia.635
185839792008Systematic meta-analyses and field synopsis of genetic association studies in schizophrenia: the SzGene database.395
171856012006Human catechol-O-methyltransferase haplotypes modulate protein expression by altering mRNA secondary structure.309
155376632005Genetic basis for individual variations in pain perception and the development of a chronic pain condition.296
125956952003COMT val158met genotype affects mu-opioid neurotransmitter responses to a pain stressor.269
125956952003COMT val158met genotype affects mu-opioid neurotransmitter responses to a pain stressor.269
158665512005Moderation of the effect of adolescent-onset cannabis use on adult psychosis by a functional polymorphism in the catechol-O-methyltransferase gene: longitudinal evidence of a gene X environment interaction.267
195069062009Candidate gene studies of ADHD: a meta-analytic review.263
164764122006Catechol-o-methyltransferase, cognition, and psychosis: Val158Met and beyond.221
198122132009The distinct cognitive syndromes of Parkinson's disease: 5 year follow-up of the CamPaIGN cohort.217

Citation

Dessen P

COMT (catechol-O-methyltransferase)

Atlas Genet Cytogenet Oncol Haematol. 2003-08-01

Online version: http://atlasgeneticsoncology.org/gene/40130/comt-(catechol-o-methyltransferase)