Terminology Service for NFDI4Health

DRD2 2 Allele

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Human DRD2 Gene at 11q23 encodes Dopamine Receptor D2, a G-protein coupled receptor that inhibits adenylyl cyclase activity. Missense mutation in DRD2 causes myoclonus dystonia; other mutations have been associated with schizophrenia. Alternative splicing results in two different isoforms. A third variant has been described, but it has not been determined whether this form is normal or due to aberrant splicing. Different alleles are associated with increased incidence of substance abuse. (NCI) [ ]

Term info

Label

DRD2 2 Allele

Synonyms
  • DRD2 2 Allele
  • DRD2 A2 Allele
  • Dopamine Receptor D2 A2 Allele
Subsets

NCIT_C116977, NCIT_C142800, NCIT_C142799

Display Name

DRD2 2 Allele

GO Annotation

dopamine receptor activity, intermediate filament, plasma membrane, signal transduction, receptor activity, dopamine receptor, adenylate cyclase inhibiting pathway, neurogenesis, synaptic transmission, transmembrane receptor activity, integral to plasma membrane, dopamine receptor signaling pathway

Gene Encodes Product

Dopamine Receptor D2

Legacy Concept Name

DRD2-A2_Allele

OMIM Number

126450

Preferred Name

DRD2 2 Allele

Semantic Type

Gene or Genome

UMLS CUI

C1333252

code

C19810