Dopamine Receptor D4

Alternative Names

  • DRD4
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OMIM Number

126452

NCBI Gene ID

1815

Uniprot ID

P21917

Length

3,438 bases

No. of Exons

4

No. of isoforms

1

Protein Name

D(4) dopamine receptor

Molecular Mass

43901 Da

Amino Acid Count

419

Genomic Location

chr11:637,269-640,706

Gene Map Locus
11p15.5

Description

This gene encodes the D4 subtype of the dopamine receptor. The D4 subtype is a G-protein coupled receptor which inhibits adenylyl cyclase. It is a target for drugs which treat schizophrenia and Parkinson disease. Mutations in this gene have been associated with various behavioral phenotypes, including autonomic nervous system dysfunction, attention deficit/hyperactivity disorder, and the personality trait of novelty seeking. This gene contains a polymorphic number (2-10 copies) of tandem 48 nt repeats; the sequence shown contains four repeats. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000797.4:c.155dupLebanonchr11:637459Likely PathogenicAttention Deficit-Hyperactivity DisorderNG_021241.1:g.5155dup; NM_000797.4:c.155dup; NP_000788.2:p.Asn52fs750696928
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