Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

COMT (catechol-O-methyltransferase)

Identity

Other namesHEL-S-98n
HGNC (Hugo) COMT
LocusID (NCBI) 1312
Location 22q11.21
Location_base_pair Starts at 19929263 and ends at 19957498 bp from pter ( according to hg19-Feb_2009)
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
Cards
Entrez_Gene (NCBI)COMT  1312  catechol-O-methyltransferase
GeneCards (Weizmann)COMT
Ensembl (Hinxton)ENSG00000093010 [Gene_View]  chr22:19929263-19957498 [Contig_View]  COMT [Vega]
ICGC DataPortalENSG00000093010
AceView (NCBI)COMT
Genatlas (Paris)COMT
WikiGenes1312
SOURCE (Princeton)NM_000754 NM_001135161 NM_001135162 NM_007310
Genomic and cartography
GoldenPath (UCSC)COMT  -  22q11.21   chr22:19929263-19957498 +  22q11.21   [Description]    (hg19-Feb_2009)
EnsemblCOMT - 22q11.21 [CytoView]
Mapping of homologs : NCBICOMT [Mapview]
OMIM116790   167870   181500   
Gene and transcription
Genbank (Entrez)AK130031 AK290440 BC000419 BC005867 BC011935
RefSeq transcript (Entrez)NM_000754 NM_001135161 NM_001135162 NM_007310
RefSeq genomic (Entrez)AC_000154 NC_000022 NC_018933 NG_011526 NT_011520 NW_001838737 NW_004929429
Consensus coding sequences : CCDS (NCBI)COMT
Cluster EST : UnigeneHs.713616 [ NCBI ]
CGAP (NCI)Hs.713616
Alternative Splicing : Fast-db (Paris)GSHG0019834
Alternative Splicing GalleryENSG00000093010
Gene ExpressionCOMT [ NCBI-GEO ]     COMT [ SEEK ]   COMT [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP21964 (Uniprot)
NextProtP21964  [Medical]
With graphics : InterProP21964
Splice isoforms : SwissVarP21964 (Swissvar)
Domaine pattern : Prosite (Expaxy)SAM_OMT_I (PS51682)   
Domains : Interpro (EBI)Catechol_O-MeTrfase    Catechol_O-MeTrfase_euk    O-MeTrfase_3    SAM-dependent_MTases-like   
Related proteins : CluSTrP21964
Domain families : Pfam (Sanger)Methyltransf_3 (PF01596)   
Domain families : Pfam (NCBI)pfam01596   
DMDM Disease mutations1312
Blocks (Seattle)P21964
PDB (SRS)3A7E    3BWM    3BWY   
PDB (PDBSum)3A7E    3BWM    3BWY   
PDB (IMB)3A7E    3BWM    3BWY   
PDB (RSDB)3A7E    3BWM    3BWY   
Human Protein AtlasENSG00000093010
Peptide AtlasP21964
HPRD00284
IPIIPI00011284   IPI00375513   IPI00878855   IPI00880186   IPI00878765   IPI00878254   
Protein Interaction databases
DIP (DOE-UCLA)P21964
IntAct (EBI)P21964
FunCoupENSG00000093010
BioGRIDCOMT
IntegromeDBCOMT
STRING (EMBL)COMT
Ontologies - Pathways
QuickGOP21964
Ontology : AmiGOmagnesium ion binding  mitochondrion  cytosol  plasma membrane  xenobiotic metabolic process  synaptic transmission  female pregnancy  learning  O-methyltransferase activity  estrogen metabolic process  response to organic cyclic compound  membrane  integral component of membrane  catechol O-methyltransferase activity  methylation  response to lipopolysaccharide  neurotransmitter catabolic process  neurotransmitter biosynthetic process  dopamine catabolic process  response to drug  small molecule metabolic process  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  extracellular vesicular exosome  
Ontology : EGO-EBImagnesium ion binding  mitochondrion  cytosol  plasma membrane  xenobiotic metabolic process  synaptic transmission  female pregnancy  learning  O-methyltransferase activity  estrogen metabolic process  response to organic cyclic compound  membrane  integral component of membrane  catechol O-methyltransferase activity  methylation  response to lipopolysaccharide  neurotransmitter catabolic process  neurotransmitter biosynthetic process  dopamine catabolic process  response to drug  small molecule metabolic process  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  extracellular vesicular exosome  
Pathways : KEGGSteroid hormone biosynthesis    Tyrosine metabolism    Dopaminergic synapse   
Protein Interaction DatabaseCOMT
Wikipedia pathwaysCOMT
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)COMT
SNP (GeneSNP Utah)COMT
SNP : HGBaseCOMT
Genetic variants : HAPMAPCOMT
1000_GenomesCOMT 
ICGC programENSG00000093010 
CONAN: Copy Number AnalysisCOMT 
Somatic Mutations in Cancer : COSMICCOMT 
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
DECIPHER (Syndromes)22:19929263-19957498
Mutations and Diseases : HGMDCOMT
OMIM116790    167870    181500   
MedgenCOMT
GENETestsCOMT
Disease Genetic AssociationCOMT
Huge Navigator COMT [HugePedia]  COMT [HugeCancerGEM]
Genomic VariantsCOMT  COMT [DGVbeta]
Exome VariantCOMT
dbVarCOMT
ClinVarCOMT
snp3D : Map Gene to Disease1312
General knowledge
Homologs : HomoloGeneCOMT
Homology/Alignments : Family Browser (UCSC)COMT
Phylogenetic Trees/Animal Genes : TreeFamCOMT
Chemical/Protein Interactions : CTD1312
Chemical/Pharm GKB GenePA117
Clinical trialCOMT
Cancer Resource (Charite)ENSG00000093010
Other databases
Probes
Litterature
PubMed499 Pubmed reference(s) in Entrez
CoreMineCOMT
GoPubMedCOMT
iHOPCOMT
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Nov 8 17:19:27 CET 2014

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.