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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
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)COMT
Alternative Splicing GalleryENSG00000093010
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
Splice isoforms : SwissVarP21964
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
Blocks (Seattle)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
Human Protein Atlas [tissue]ENSG00000093010-COMT [tissue]
Peptide AtlasP21964
HPRD00284
IPIIPI00011284   IPI00375513   IPI00878855   IPI00880186   IPI00878765   IPI00878254   
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  methyltransferase activity  O-methyltransferase activity  membrane  membrane  integral component of membrane  catechol O-methyltransferase activity  catechol O-methyltransferase activity  catechol O-methyltransferase activity  axon  dendrite  methylation  methylation  developmental process  neurotransmitter catabolic process  dopamine metabolic process  catecholamine catabolic process  catecholamine catabolic process  intracellular membrane-bounded organelle  extracellular exosome  L-dopa O-methyltransferase activity  orcinol O-methyltransferase activity  
Ontology : EGO-EBImagnesium ion binding  protein binding  cytosol  plasma membrane  methyltransferase activity  O-methyltransferase activity  membrane  membrane  integral component of membrane  catechol O-methyltransferase activity  catechol O-methyltransferase activity  catechol O-methyltransferase activity  axon  dendrite  methylation  methylation  developmental process  neurotransmitter catabolic process  dopamine metabolic process  catecholamine catabolic process  catecholamine catabolic process  intracellular membrane-bounded organelle  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
HOGENOMP21964
Homologs : HomoloGeneCOMT
Homology/Alignments : Family Browser (UCSC)COMT
Gene fusions - Rearrangements
Fusion : MitelmanMED15/COMT [22q11.21/22q11.21]  
Fusion PortalMED15 22q11.21 COMT 22q11.21 GBM
Fusion : QuiverCOMT
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCOMT [hg38]
dbVarCOMT
ClinVarCOMT
MonarchCOMT
1000_GenomesCOMT 
Exome Variant ServerCOMT
GNOMAD BrowserENSG00000093010
Varsome BrowserCOMT
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)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch COMT
DgiDB (Drug Gene Interaction Database)COMT
DoCM (Curated mutations)COMT (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)COMT (select a term)
intoGenCOMT
Cancer3DCOMT(select the gene name)
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 : CTD
Pharm GKB GenePA117
Pharm GKB PathwaysPA145011115   PA145011118   PA166121347   
PharosP21964
Clinical trialCOMT
Miscellaneous
canSAR (ICR)COMT (select the gene name)
HarmonizomeCOMT
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 : Thu Mar 25 19:16:31 CET 2021

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