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Gene : COMT Homo sapiens

Name  ? catechol-O-methyltransferase Cytological Location  22q11.21
Brief Description  catechol-O-methyltransferase
Description  Catechol-O-methyltransferase catalyzes the transfer of a methyl group from S-adenosylmethionine to catecholamines, including the neurotransmitters dopamine, epinephrine, and norepinephrine. This O-methylation results in one of the major degradative pathways of the catecholamine transmitters. In addition to its role in the metabolism of endogenous substances, COMT is important in the metabolism of catechol drugs used in the treatment of hypertension, asthma, and Parkinson disease. COMT is found in two forms in tissues, a soluble form (S-COMT) and a membrane-bound form (MB-COMT). The differences between S-COMT and MB-COMT reside within the N-termini. Several transcript variants are formed through the use of alternative translation initiation sites and promoters. [provided by RefSeq, Sep 2008]
  • synonyms:
  • NM_000754,
  • COMT,
  • uc002zqu.4,
  • HGNC:2228,
  • HEL-S-98n,
  • OTTHUMG00000150529
  • identifiers:
  • 1312,
  • ENSG00000093010,
  • COMT

Genome feature

Region: gene ? Length: 28204  
Location: 22:19941772-19969975 Cyto location: 22q11.21


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Function

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

2 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Expression

Gene(s) --> Significant SNPs (GTex data)

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Other

3753 SN Ps

5 Cross References

20 Data Sets

4 Homologues

0 Located Features

97 Rna Seq Results