DRD3

Chr 3AD

dopamine receptor D3

Also known as: D3DR, ETM1, FET1

This gene encodes the D3 subtype of the five (D1-D5) dopamine receptors. The activity of the D3 subtype receptor is mediated by G proteins which inhibit adenylyl cyclase. This receptor is localized to the limbic areas of the brain, which are associated with cognitive, emotional, and endocrine functions. Genetic variation in this gene may be associated with susceptibility to hereditary essential tremor 1. Alternative splicing of this gene results in transcript variants encoding different isoforms, although some variants may be subject to nonsense-mediated decay (NMD). [provided by RefSeq, Jul 2008]

GeneReviewsOMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

{Essential tremor, hereditary, 1}MIM #190300
AD
{Schizophrenia, susceptibility to}MIM #181500
AD
2
Active trials
41
Pubs (1 yr)
P/LP submissions
P/LP missense
0.81
LOEUF
Multiple*
Mechanism· predicted
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.81LOEUF
pLI 0.002
Z-score 2.13
OE 0.43 (0.240.81)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.47Z-score
OE missense 0.73 (0.640.83)
169 obs / 232.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.43 (0.240.81)
00.351.4
Missense OE?0.73 (0.640.83)
00.61.4
Synonymous OE?1.01
01.21.6
LoF obs/exp: 7 / 16.3Missense obs/exp: 169 / 232.0Syn Z: -0.09

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

DRD3 · protein map & ClinVar variants

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