DRD5
  • 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
DRD5 (HGNC:3026) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
dopamine receptor D5
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
DRD1L2
Alias symbols
DRD1B
%HI
48.72(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.09(Read more about gnomAD pLI score)
LOEUF
1.85(Read more about gnomAD LOEUF score)
Cytoband
4p16.1
Genomic Coordinates
GRCh37/hg19: chr4:9783258-9785633 NCBI Ensembl UCSC
GRCh38/hg38: chr4:9781634-9784009 NCBI Ensembl UCSC
MANE Select Transcript
NM_000798.5 ENST00000304374.4 (Read more about MANE Select)
Function
Dopamine receptor whose activity is mediated by G proteins which activate adenylyl cyclase. {ECO:0000269|PubMed:1834671}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-14409
ClinGen Curation ID:
CCID:007032
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
05/15/2012

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
There is suggestion that polymorphisms within DRD5 may be associated with susceptibility to both ADHD and blepharospasm (see OMIM entry for additional detail). Available data does not demonstrate that loss of function mutations of DRD5 result in these phenotypes. There is a report (PMID: 7633397) of a nonsense mutation identified in two unrelated patients with schizophrenia. However, this mutation was observed at a similar frequency amongst ethnicity matched controls, and did not segregate with disease within the one family available for study. However, a post-hoc analysis of combined measures of frontal lobe function hinted that heterozygotes for C335X may have a vulnerability to mild impairment, but, per the authors, these findings must be interpreted with caution.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
Though no evidence was found linking DRD5 duplications alone with a specific phenotype, there has been a report of a 482 kb gain encompassing DRD5 (and 2 other genes) in a proband with ADHD inherited from an affected father (PMID:21832240)

Genomic View

Select assembly: (NC_000004.11) (NC_000004.12)