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An Entity of Type : owl:Class, within Data Space : linked.opendata.cz associated with source document(s)

AttributesValues
rdf:type
rdfs:label
  • DRD2 1 Allele
rdfs:subClassOf
OMIM_Number
  • 126450
GenBank_Accession_Number
  • NM_000795
Semantic_Type
  • Gene or Genome
Preferred_Name
  • DRD2 1 Allele
UMLS_CUI
  • C1333251
GO_Annotation
  • intermediate filamentGO:0005882TAS29-SEP-2003CGAP
  • dopamine receptor activityGO:0004952TAS29-SEP-2003CGAP
  • synaptic transmissionGO:0007268TAS29-SEP-2003CGAP
  • transmembrane receptor activityGO:0004888TAS29-SEP-2003CGAP
  • integral to plasma membraneGO:0005887TAS29-SEP-2003CGAP
  • dopamine receptor, adenylate cyclase inhibiting pathwayGO:0007195TAS29-SEP-2003CGAP
  • receptor activityGO:0004872TAS29-SEP-2003CGAP
  • neurogenesisGO:0007399TAS29-SEP-2003CGAP
  • signal transductionGO:0007165TAS29-SEP-2003CGAP
  • plasma membraneGO:0005886TAS29-SEP-2003CGAP
  • dopamine receptor signaling pathwayGO:0007212TAS29-SEP-2003CGAP
Legacy_Concept_Name
  • DRD2-A1_Allele
FULL_SYN
  • DRD2 1 AllelePTNCI
  • DRD2 A1 AlleleSYNCI
  • Dopamine Receptor D2 A1 AlleleSYNCI
Gene_Encodes_Product
  • Dopamine Receptor D2
DEFINITION
  • 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)NCI
code
  • C19799
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