DRD3 Chromosome 3
Dopamine receptor D3
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What This Gene Does
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]
Gene Info
Gene Group
Dopamine receptors
Locus Type
gene with protein product
Location
3q13.31
Ensembl
ENSG00000151577
Associated Conditions (4)
Tremor
hereditary essential
1
DRD3-related disorder
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS145218071 | Health Risk | Conflicting classifications of pathogenicity | Tremor, hereditary essential, 1 |
| RS201882973 | Health Risk | Conflicting classifications of pathogenicity | DRD3-related disorder, DRD3-related disorder |