DRD3
dopamine receptor D3
Summary
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]
Known Variants65 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2399496 | 3:113,846,013 | T/A | downstream gene variant | — |
| rs9868039 | 3:113,846,542 | G/A | regulatory region variant | — |
| rs886057788 | 3:113,847,615 | G/T | — | uncertain significance |
| rs2107825397 | 3:113,847,656 | C/A | — | uncertain significance |
| rs3732791 | 3:113,847,689 | G/A | — | likely benign |
| rs139341493 | 3:113,847,719 | A/G | — | likely benign |
| rs557764679 | 3:113,847,748 | C/A | — | uncertain significance |
| rs4646996 | 3:113,849,565 | C/T | intron variant | — |
| rs61735073 | 3:113,849,984 | T/C | — | benign |
| rs751158863 | 3:113,850,017 | C/T | — | likely benign |
| rs200135822 | 3:113,850,031 | G/T | — | uncertain significance |
| rs201125521 | 3:113,850,050 | C/A | — | likely benign |
| rs200825904 | 3:113,850,150 | C/T | — | uncertain significance |
| rs1176731923 | 3:113,850,226 | G/A | — | uncertain significance |
| rs2134655 | 3:113,858,201 | C/A | — | — |
| rs2550260583 | 3:113,858,343 | T/C | — | uncertain significance |
| rs2251177 | 3:113,858,350 | C/T | synonymous variant | benign |
| rs150042478 | 3:113,858,379 | A/T | — | likely benign |
| rs201369546 | 3:113,858,394 | G/C | — | uncertain significance |
| rs199727675 | 3:113,858,411 | C/T | — | uncertain significance |
| rs2550260860 | 3:113,858,447 | T/C | — | uncertain significance |
| rs890524151 | 3:113,858,541 | C/T | — | uncertain significance |
| rs201252087 | 3:113,861,589 | A/T | — | — |
| rs963468 | 3:113,862,887 | G/A | regulatory region variant | — |
| rs145218071 | 3:113,866,382 | C/T | — | conflicting classifications of pathogenicity |
| rs199529083 | 3:113,866,383 | G/A | — | likely benign |
| rs199862630 | 3:113,866,384 | G/T | — | uncertain significance |
| rs3773679 | 3:113,869,335 | C/G | — | — |
| rs3773678 | 3:113,870,078 | A/T | — | — |
| rs2630349 | 3:113,873,372 | A/T | — | — |
| rs2630351 | 3:113,875,059 | A/C | — | — |
| rs167771 | 3:113,876,275 | G/A | intron variant | benign |
| rs324032 | 3:113,877,828 | G/C | — | — |
| rs200206712 | 3:113,878,595 | G/A | — | uncertain significance |
| rs1369997674 | 3:113,878,620 | C/T | — | uncertain significance |
| rs530441506 | 3:113,878,661 | G/T | — | likely benign |
| rs886057789 | 3:113,878,683 | A/C | — | uncertain significance |
| rs766862523 | 3:113,878,686 | C/T | — | uncertain significance |
| rs167770 | 3:113,879,562 | G/C | — | — |
| rs189860646 | 3:113,880,642 | C/T | intron variant | — |
| rs324029 | 3:113,881,623 | A/C | — | — |
| rs75091114 | 3:113,890,556 | T/C | — | uncertain significance |
| rs376795590 | 3:113,890,668 | G/A | — | uncertain significance |
| rs201882973 | 3:113,890,685 | A/G | — | conflicting classifications of pathogenicity |
| rs143953030 | 3:113,890,711 | G/A | — | likely benign |
| rs149122773 | 3:113,890,723 | G/A | — | likely benign |
| rs77498054 | 3:113,890,726 | C/T | — | likely benign |
| rs138354054 | 3:113,890,728 | C/T | — | likely benign |
| rs3732783 | 3:113,890,789 | T/C | synonymous variant | benign |
| rs769889675 | 3:113,890,793 | C/T | — | uncertain significance |
| rs1299140732 | 3:113,890,796 | C/G | — | uncertain significance |
| rs144644130 | 3:113,890,799 | G/A | — | uncertain significance |
| rs6280 | 3:113,890,815 | C/T | missense variant | risk factor |
| rs201872343 | 3:113,897,506 | T/G | — | uncertain significance |
| rs36211802 | 3:113,897,573 | C/T | — | likely benign |
| rs886057790 | 3:113,897,582 | T/C | — | uncertain significance |
| rs200345655 | 3:113,897,621 | A/C | — | likely benign |
| rs36211803 | 3:113,897,720 | G/A | — | likely benign |
| rs199852439 | 3:113,897,749 | T/C | — | uncertain significance |
| rs190248679 | 3:113,897,754 | T/G | — | likely benign |
| rs201561838 | 3:113,897,786 | G/A | — | uncertain significance |
| rs36212175 | 3:113,897,801 | C/T | — | benign |
| rs886057791 | 3:113,897,856 | A/T | — | uncertain significance |
| rs9825563 | 3:113,900,220 | A/G | upstream gene variant | — |
| rs62268962 | 3:113,917,372 | A/T | intron variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.