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COMT (catechol-O-methyltransferase)

Identity

Alias (NCBI)HEL-S-98n
HGNC (Hugo) COMT
LocusID (NCBI) 1312
Atlas_Id 40130
Location 22q11.21  [Link to chromosome band 22q11]
Location_base_pair Starts at 19962553 and ends at 19969975 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
COMT (22q11.21)::COMT (22q11.21)COMT (22q11.21)::MAP7D1 (1p34.3)COMT (22q11.21)::NICN1 (3p21.31)
COMT (22q11.21)::PCBP2 (12q13.13)COMT (22q11.21)::THBS3 (1q22)IQSEC1 (3p25.2)::COMT (22q11.21)
MED15 (22q11.21)::COMT (22q11.21)MED15 22q11.21::COMT 22q11.21

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 



External links

 

Nomenclature
HGNC (Hugo)COMT   2228
LRG (Locus Reference Genomic)LRG_1010
Cards
Entrez_Gene (NCBI)COMT    catechol-O-methyltransferase
AliasesHEL-S-98n
GeneCards (Weizmann)COMT
Ensembl hg19 (Hinxton)ENSG00000093010 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000093010 [Gene_View]  ENSG00000093010 [Sequence]  chr22:19962553-19969975 [Contig_View]  COMT [Vega]
ICGC DataPortalENSG00000093010
TCGA cBioPortalCOMT
AceView (NCBI)COMT
Genatlas (Paris)COMT
SOURCE (Princeton)COMT
Genetics Home Reference (NIH)COMT
Genomic and cartography
GoldenPath hg38 (UCSC)COMT  -     chr22:19962553-19969975 +  22q11.21   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)COMT  -     22q11.21   [Description]    (hg19-Feb_2009)
GoldenPathCOMT - 22q11.21 [CytoView hg19]  COMT - 22q11.21 [CytoView hg38]
ImmunoBaseENSG00000093010
Genome Data Viewer NCBICOMT [Mapview hg19]  
OMIM116790   167870   181500   
Gene and transcription
Genbank (Entrez)AK130031 AK290440 BC000419 BC005867 BC011935
RefSeq transcript (Entrez)NM_000754 NM_001135161 NM_001135162 NM_001362828 NM_007310
Consensus coding sequences : CCDS (NCBI)COMT
Gene ExpressionCOMT [ NCBI-GEO ]   COMT [ EBI - ARRAY_EXPRESS ]   COMT [ SEEK ]   COMT [ MEM ]
Gene Expression Viewer (FireBrowse)COMT [ Firebrowse - Broad ]
GenevisibleExpression of COMT in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1312
GTEX Portal (Tissue expression)COMT
Human Protein AtlasENSG00000093010-COMT [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP21964   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP21964  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP21964
PhosPhoSitePlusP21964
Domaine pattern : Prosite (Expaxy)SAM_OMT_I (PS51682)   
Domains : Interpro (EBI)Catechol_O-MeTrfase_euk    SAM-dependent_MTases    SAM_O-MeTrfase   
Domain families : Pfam (Sanger)Methyltransf_3 (PF01596)   
Domain families : Pfam (NCBI)pfam01596   
Conserved Domain (NCBI)COMT
PDB (RSDB)3A7E    3BWM    3BWY    4PYI    4PYJ    4PYK    4XUC    4XUD    4XUE    5LSA    6I3C    6I3D   
PDB Europe3A7E    3BWM    3BWY    4PYI    4PYJ    4PYK    4XUC    4XUD    4XUE    5LSA    6I3C    6I3D   
PDB (PDBSum)3A7E    3BWM    3BWY    4PYI    4PYJ    4PYK    4XUC    4XUD    4XUE    5LSA    6I3C    6I3D   
PDB (IMB)3A7E    3BWM    3BWY    4PYI    4PYJ    4PYK    4XUC    4XUD    4XUE    5LSA    6I3C    6I3D   
Structural Biology KnowledgeBase3A7E    3BWM    3BWY    4PYI    4PYJ    4PYK    4XUC    4XUD    4XUE    5LSA    6I3C    6I3D   
SCOP (Structural Classification of Proteins)3A7E    3BWM    3BWY    4PYI    4PYJ    4PYK    4XUC    4XUD    4XUE    5LSA    6I3C    6I3D   
CATH (Classification of proteins structures)3A7E    3BWM    3BWY    4PYI    4PYJ    4PYK    4XUC    4XUD    4XUE    5LSA    6I3C    6I3D   
SuperfamilyP21964
AlphaFold pdb e-kbP21964   
Human Protein Atlas [tissue]ENSG00000093010-COMT [tissue]
HPRD00284
Protein Interaction databases
DIP (DOE-UCLA)P21964
IntAct (EBI)P21964
BioGRIDCOMT
STRING (EMBL)COMT
ZODIACCOMT
Ontologies - Pathways
QuickGOP21964
Ontology : AmiGOmagnesium ion binding  protein binding  cytosol  plasma membrane  female pregnancy  learning  short-term memory  O-methyltransferase activity  estrogen metabolic process  response to organic cyclic compound  membrane  membrane  integral component of membrane  cellular response to phosphate starvation  catechol O-methyltransferase activity  catechol O-methyltransferase activity  axon  dendrite  methylation  methylation  response to lipopolysaccharide  developmental process  negative regulation of renal sodium excretion  neurotransmitter catabolic process  dopamine metabolic process  dopamine catabolic process  catecholamine catabolic process  catecholamine catabolic process  response to drug  dendritic spine  intracellular membrane-bounded organelle  response to estrogen  cell body  postsynaptic membrane  negative regulation of dopamine metabolic process  response to pain  multicellular organismal reproductive process  negative regulation of smooth muscle cell proliferation  positive regulation of homocysteine metabolic process  regulation of sensory perception of pain  extracellular exosome  L-dopa O-methyltransferase activity  orcinol O-methyltransferase activity  
Ontology : EGO-EBImagnesium ion binding  protein binding  cytosol  plasma membrane  female pregnancy  learning  short-term memory  O-methyltransferase activity  estrogen metabolic process  response to organic cyclic compound  membrane  membrane  integral component of membrane  cellular response to phosphate starvation  catechol O-methyltransferase activity  catechol O-methyltransferase activity  axon  dendrite  methylation  methylation  response to lipopolysaccharide  developmental process  negative regulation of renal sodium excretion  neurotransmitter catabolic process  dopamine metabolic process  dopamine catabolic process  catecholamine catabolic process  catecholamine catabolic process  response to drug  dendritic spine  intracellular membrane-bounded organelle  response to estrogen  cell body  postsynaptic membrane  negative regulation of dopamine metabolic process  response to pain  multicellular organismal reproductive process  negative regulation of smooth muscle cell proliferation  positive regulation of homocysteine metabolic process  regulation of sensory perception of pain  extracellular exosome  L-dopa O-methyltransferase activity  orcinol O-methyltransferase activity  
Pathways : KEGGSteroid hormone biosynthesis    Tyrosine metabolism    Dopaminergic synapse   
NDEx NetworkCOMT
Atlas of Cancer Signalling NetworkCOMT
Wikipedia pathwaysCOMT
Orthology - Evolution
OrthoDB1312
GeneTree (enSembl)ENSG00000093010
Phylogenetic Trees/Animal Genes : TreeFamCOMT
Homologs : HomoloGeneCOMT
Homology/Alignments : Family Browser (UCSC)COMT
Gene fusions - Rearrangements
Fusion : MitelmanMED15::COMT [22q11.21/22q11.21]  
Fusion : QuiverCOMT
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCOMT [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)COMT
dbVarCOMT
ClinVarCOMT
MonarchCOMT
1000_GenomesCOMT 
Exome Variant ServerCOMT
GNOMAD BrowserENSG00000093010
Varsome BrowserCOMT
ACMGCOMT variants
VarityP21964
Genomic Variants (DGV)COMT [DGVbeta]
DECIPHERCOMT [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCOMT 
Mutations
ICGC Data PortalCOMT 
TCGA Data PortalCOMT 
Broad Tumor PortalCOMT
OASIS PortalCOMT [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCOMT  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DCOMT
Mutations and Diseases : HGMDCOMT
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaCOMT
DgiDB (Drug Gene Interaction Database)COMT
DoCM (Curated mutations)COMT
CIViC (Clinical Interpretations of Variants in Cancer)COMT
Cancer3DCOMT
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM116790    167870    181500   
Orphanet126    19358    20573   
DisGeNETCOMT
MedgenCOMT
Genetic Testing Registry COMT
NextProtP21964 [Medical]
GENETestsCOMT
Target ValidationCOMT
Huge Navigator COMT [HugePedia]
ClinGenCOMT
Clinical trials, drugs, therapy
MyCancerGenomeCOMT
Protein Interactions : CTDCOMT
Pharm GKB GenePA117
Pharm GKB PathwaysPA145011115   PA145011118   PA166121347   
PharosP21964
Clinical trialCOMT
Miscellaneous
canSAR (ICR)COMT
HarmonizomeCOMT
ARCHS4COMT
DataMed IndexCOMT
Probes
Litterature
PubMed499 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXCOMT
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Jan 17 15:19:57 CET 2022

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