DRD5

Chr 4AD

dopamine receptor D5

Also known as: DBDR, DRD1B, DRD1L2

This gene encodes the D5 subtype of the dopamine receptor. The D5 subtype is a G-protein coupled receptor which stimulates adenylyl cyclase. This receptor is expressed in neurons in the limbic regions of the brain. It has a 10-fold higher affinity for dopamine than the D1 subtype. Pseudogenes related to this gene reside on chromosomes 1 and 2. [provided by RefSeq, Jul 2008]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

{Attention deficit-hyperactivity disorder, susceptibility to}MIM #143465
AD
{Blepharospasm, primary benign}MIM #606798
AD
UniProtBenign essential blepharospasm
0
Active trials
23
Pubs (1 yr)
P/LP submissions
P/LP missense
1.94
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.94LOEUF
pLI 0.000
Z-score -1.89
OE 1.57 (1.081.94)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.45Z-score
OE missense 1.07 (0.981.17)
348 obs / 325.4 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.57 (1.081.94)
00.351.4
Missense OE?1.07 (0.981.17)
00.61.4
Synonymous OE?1.08
01.21.6
LoF obs/exp: 20 / 12.7Missense obs/exp: 348 / 325.4Syn Z: -0.78

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

DRD5 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →