Dopamine Receptor D2

Alternative Names

  • DRD2
  • D2R
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OMIM Number

126450

NCBI Gene ID

1813

Uniprot ID

P14416

Length

65,794 bases

No. of Exons

9

No. of isoforms

3

Protein Name

D(2) dopamine receptor

Molecular Mass

50619 Da

Amino Acid Count

443

Genomic Location

chr11:113,409,605-113,475,398

Gene Map Locus
11q23.2

Description

This gene encodes the D2 subtype of the dopamine receptor. This G-protein coupled receptor inhibits adenylyl cyclase activity. A missense mutation in this gene causes myoclonus dystonia; other mutations have been associated with schizophrenia. Alternative splicing of this gene results in two transcript variants encoding different isoforms. A third variant has been described, but it has not been determined whether this form is normal or due to aberrant splicing. [provided by RefSeq, Jul 2008]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000795.4:c.811-83G>TUnited Arab EmiratesNC_000011.10:g.113412966C>ABenign, Likely BenignLikely BenignNG_008841.1:g.67314G>T; NM_000795.4:c.811-83G>T; NP_000786.1:p.?1076560375655
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