AutismKB

Annotation Detail for COMT


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Basic Information Top
Gene Symbol:COMT ( - )
Gene Full Name: catechol-O-methyltransferase
Band: 22q11.21-q11.23|22q11.21
Quick LinksEntrez ID:1312; OMIM: 116790; Uniprot ID:COMT_HUMAN; ENSEMBL ID: ENSG00000093010
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005624IEA-membrane fraction-
GO:0005625IEA-soluble fraction-
GO:0005737IEA-cytoplasm-
GO:0005792TAS-microsome1707278
GO:0005829EXP-cytosol8968737
GO:0005886TAS-plasma membrane-
GO:0016021IEA-integral to membrane-
GO:0043231IDA-intracellular membrane-bounded organelle18029348
GO ID Evidence Qualifier GO_term References
GO:0000287IEA-magnesium ion binding-
GO:0005515IPI-protein binding15231747
GO:0008168TAS-methyltransferase activity-
GO:0008171TAS-O-methyltransferase activity1707278
GO:0016206EXP-catechol O-methyltransferase activity8968737
GO:0016740IEA-transferase activity-
GO ID Evidence Qualifier GO_term References
GO:0006584IEA-catecholamine metabolic process-
GO:0006805TAS-xenobiotic metabolic process-
GO:0007268TAS-synaptic transmission-
GO:0007565IEA-female pregnancy-
GO:0007612IEA-learning-
GO:0008210IEA-estrogen metabolic process-
GO:0014070IEA-response to organic cyclic compound-
GO:0032259TAS-methylation-
GO:0032496IEA-response to lipopolysaccharide-
GO:0042135IEA-neurotransmitter catabolic process-
GO:0042136TAS-neurotransmitter biosynthetic process-
GO:0042420IEA-dopamine catabolic process-
GO:0042493IEA-response to drug-
GO:0045963IEA-negative regulation of dopamine metabolic process-
GO:0048265IEA-response to pain-
GO:0048609IEA-multicellular organismal reproductive process-
GO:0048662IEA-negative regulation of smooth muscle cell proliferation-
GO:0050668IEA-positive regulation of homocysteine metabolic process-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
XRN2COMT10770715231747 Two-hybrid
XRN2COMT11648315231747 Two-hybrid
TRIP13COMT10770716189514 Two-hybrid
TRIP13COMT11473016189514 Two-hybrid
No data
No data
Genomic Variants Top
Variant ID Location Publication Method/platform Gain Lose Total Frequency Sample Size Genes
Variation_31071 chr22:17399088-19383198 18304495 Agilent Custom CGH Arrays 6 0 6- 30 control samples (HapMap) C22orf25, TSSK2, LOC150197, CLTCL1, DGCR8, TXNRD2, DGCR6L, ARVCF, MIR1286, KLHL22, SCARF2, MIR1306, GSC2, LOC150185, ZDHHC8, CDC45, DGCR2, CLDN5, UFD1L, PI4KAP1, HIRA, C22orf39, MRPL40, ZNF74, SEPT5, GP1BB, GNB1L, RANBP1, POM121L4P, COMT, DGCR11, RTN4R, DGCR14, MED15, MIR185, TBX1, C22orf29, TRMT2A, SLC25A1, RIMBP3
Variation_115055 chr22:18058592-18691988 20364138 Custom Agilent 24M oligonucleotide CGH array 1 1 2- 30 Asian Individuals (10 Koreans (KOR), 10 HapMap Chinese (CHB) and 10 HapMap Japanese (JPT) individuals) C22orf25, LOC150197, DGCR8, TXNRD2, DGCR6L, ARVCF, MIR1286, MIR1306, ZDHHC8, SEPT5, GP1BB, GNB1L, RANBP1, COMT, RTN4R, MIR185, TBX1, C22orf29, TRMT2A
Variation_2261 chr22:18259187-18435258 16826518 BAC Array CGH 0 31 31- 269 control samples (HapMap) C22orf25, COMT, MIR185, TXNRD2, ARVCF
Variation_5168 chr22:18267966-18449970 17160897 BAC Array CGH 0 6 6- 95 control samples C22orf25, COMT, DGCR8, MIR185, TXNRD2, ARVCF
No data
No data
No data
AlzGene, PDGene and SZGene Top
Gene Symbol Poly Names Gene overview in AlzGene
COMTrs4680 Gene overview in AlzGene
Gene Symbol Poly Names Gene overview in PDGene
COMTrs2075507, rs362204, rs4633, rs4680, rs4818, rs6267 Gene overview in PDGene
Gene Symbol Poly Names Gene overview in SZGene
COMTCOMT_-137A/G, COMT_-287A/G, COMT_597G/A, D22S264, D22S446, D22S447, D22S451, D22S688, D22S705, D22S873, D22S944, D22S958, rs1012157, rs1544325, rs1548357, rs165599, rs165656, rs165722, rs165728, rs165774, rs16982844, rs17210001, rs174673, rs174675, rs174682, rs174696, rs174697, rs174699, rs1800706, rs1805052, rs2020917, rs2075507, rs2097603, rs2238794, rs2238797, rs2239393, rs2240716, rs362204, rs3788310, rs3788319, rs3810595, rs3838146, rs4633, rs4646310, rs4646312, rs4646315, rs4646316, rs4646317, rs4646318, rs4680, rs4818, rs5746849, rs5992500, rs5993882, rs5993883, rs6267, rs6269, rs6518592, rs71186636, rs7289747, rs7290221, rs737864, rs737865, rs737866, rs740601, rs740603, rs769224, rs8185002, rs885987, rs9332347, rs9332362, rs9332377, rs9332381, rs933271 Gene overview in SZGene
Animal Model Top
  • MGI ID: MGI:88470
  • Data Attributes: MGI curated and HomoloGene calculated
MGI Allele ID Allele Symbol Allele Source Allele Type / Mutant Cell line ID
MGI:2178542Comt[tm1Kara]Allele from Mouse Targeted (knock-out)
  • nervous system phenotype
  • homeostasis/metabolism phenotype
  • behavior/neurological phenotype
MGI:4819952Comt[B2i]Allele from Mouse Spontaneous
  • behavior/neurological phenotype
MGI:4830700Comt[tm1Mkae]Allele from Mouse Targeted (knock-out)
  • homeostasis/metabolism phenotype
MGI:4432657Comt[tm1a(EUCOMM)Wtsi]Mutant from cell lines69837
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