Terminology Service for NFDI4Health

DRD2 1 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. The A1 allele has been associated with alcoholism. (NCI) [ ]

Term info

Label

DRD2 1 Allele

Synonyms
  • DRD2 1 Allele
  • DRD2 A1 Allele
  • Dopamine Receptor D2 A1 Allele
Subsets

NCIT_C116977, NCIT_C142800, NCIT_C142799

Display Name

DRD2 1 Allele

GO Annotation

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

Gene Encodes Product

Dopamine Receptor D2

Legacy Concept Name

DRD2-A1_Allele

OMIM Number

126450

Preferred Name

DRD2 1 Allele

Semantic Type

Gene or Genome

UMLS CUI

C1333251

code

C19799