DRD4

dopamine receptor D4

Summary

This gene encodes the D4 subtype of the dopamine receptor. The D4 subtype is a G-protein coupled receptor which inhibits adenylyl cyclase. It is a target for drugs which treat schizophrenia and Parkinson disease. Mutations in this gene have been associated with various behavioral phenotypes, including autonomic nervous system dysfunction, attention deficit/hyperactivity disorder, and the personality trait of novelty seeking. This gene contains a polymorphic number (2-10 copies) of tandem 48 nt repeats; the sequence shown contains four repeats. [provided by RefSeq, Jul 2008]

Known Variants119 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs3758653	11:636,399	T/C	upstream gene variant	—
rs747302	11:636,689	G/C	regulatory region variant	—
rs936462	11:636,690	G/C	—	—
rs1800955	11:636,784	T/C	2kb upstream variant	uncertain risk allele
rs916457	11:637,014	C/T	regulatory region variant	—
rs146680769	11:637,294	T/C	—	uncertain significance
rs189482961	11:637,335	G/C	—	benign
rs534204857	11:637,355	G/A	—	likely benign
rs1858083847	11:637,383	T/C	—	uncertain significance
rs1022471416	11:637,384	C/G	—	uncertain significance
rs767779176	11:637,408	C/T	—	uncertain significance
rs1858084925	11:637,411	C/T	—	uncertain significance
rs780467485	11:637,426	G/T	—	uncertain significance
rs570777638	11:637,430	G/A	—	likely benign
rs374359731	11:637,443	G/A	—	uncertain significance
rs776495106	11:637,462	C/G	—	uncertain significance
rs762796731	11:637,485	A/C	—	uncertain significance
rs571899363	11:637,491	C/T	—	uncertain significance
rs1367140126	11:637,495	C/T	—	uncertain significance
rs139480839	11:637,526	G/A	—	benign
rs955881268	11:637,531	T/C	—	uncertain significance
rs146562378	11:637,536	G/A	—	likely benign
rs370549757	11:637,538	C/T	—	likely benign
rs149808759	11:637,553	C/T	—	likely benign
rs145562859	11:637,554	G/A	—	benign
rs1224655602	11:637,560	C/A	—	uncertain significance
rs527654047	11:637,587	G/A	—	uncertain significance
rs1302794889	11:637,596	C/T	—	likely benign
rs752306	11:637,622	C/T	regulatory region variant	—
rs12720390	11:637,932	G/A	—	—
rs559464313	11:638,633	A/G	—	—
rs12720403	11:639,274	G/C	—	—
rs1435818433	11:639,426	C/T	—	likely benign
rs764643674	11:639,482	T/G	—	uncertain significance
rs375611171	11:639,488	T/C	—	uncertain significance
rs751467198	11:639,533	T/G	—	uncertain significance
rs201554946	11:639,561	C/T	regulatory region variant	—
rs1265151721	11:639,665	T/C	—	uncertain significance
rs765419488	11:639,668	C/G	—	uncertain significance
rs758612321	11:639,681	C/G	—	uncertain significance
rs778016591	11:639,682	C/G	—	uncertain significance
rs530519660	11:639,719	G/A	—	uncertain significance
rs1370276664	11:639,734	T/G	—	uncertain significance
rs764366872	11:639,751	G/A	—	uncertain significance
rs771609515	11:639,778	G/T	—	uncertain significance
rs780489371	11:639,817	C/G	—	uncertain significance
rs1800443	11:639,830	T/G	missense variant	benign
rs199869206	11:639,852	C/T	—	likely benign
rs774497080	11:639,856	C/A	—	uncertain significance
rs756800106	11:639,901	G/T	—	uncertain significance
rs753123706	11:639,933	C/T	—	likely benign
rs780865553	11:639,947	G/C	—	uncertain significance
rs2494194810	11:639,961	C/G	—	uncertain significance
rs1258037201	11:639,964	A/C	—	uncertain significance
rs2133251867	11:639,965	G/C	—	uncertain significance
rs537247984	11:639,967	G/A	—	uncertain significance
rs771071064	11:639,968	G/C	—	uncertain significance
rs770385372	11:639,974	G/C	—	uncertain significance
rs1222114726	11:639,977	C/T	—	uncertain significance
rs1259738013	11:639,981	T/C	—	likely benign
rs866164050	11:639,993	A/C	—	likely benign
rs1012290958	11:640,003	C/T	—	uncertain significance
rs1327643360	11:640,022	G/A	—	uncertain significance
rs557382507	11:640,051	G/T	—	benign
rs866686536	11:640,056	T/C	—	conflicting classifications of pathogenicity
rs767239460	11:640,061	G/A	—	uncertain significance
rs1858183114	11:640,063	G/C	—	uncertain significance
rs749976218	11:640,064	G/A	—	uncertain significance
rs1256049181	11:640,065	T/C	—	conflicting classifications of pathogenicity
rs780104604	11:640,071	C/T	—	likely benign
rs1289570744	11:640,073	G/A	—	uncertain significance
rs1858184904	11:640,083	T/G	—	uncertain significance
rs1486316960	11:640,092	C/A	—	likely benign
rs34662058	11:640,099	A/G	—	uncertain significance
rs745991309	11:640,104	C/T	—	likely benign
rs769762387	11:640,109	A/C	—	conflicting classifications of pathogenicity
rs1475800308	11:640,113	C/T	—	likely benign
rs762502	11:640,119	C/G	missense variant	—
rs1201517565	11:640,123	C/T	—	uncertain significance
rs1214141543	11:640,126	G/A	—	likely benign
rs1365230157	11:640,138	C/G	—	likely benign
rs772994846	11:640,142	C/T	—	uncertain significance
rs754900549	11:640,147	G/A	—	uncertain significance
rs752533625	11:640,157	C/A	—	uncertain significance
rs1025651040	11:640,166	G/T	—	uncertain significance
rs1169913989	11:640,168	G/A	—	uncertain significance
rs534428944	11:640,171	T/C	—	uncertain significance
rs781463894	11:640,174	A/G	—	uncertain significance
rs544091514	11:640,177	T/C	—	uncertain significance
rs547842677	11:640,182	T/G	—	conflicting classifications of pathogenicity
rs780003868	11:640,183	C/T	—	uncertain significance
rs977842521	11:640,201	G/A	—	uncertain significance
rs529779269	11:640,204	G/A	—	uncertain significance
rs1225175674	11:640,207	G/C	—	uncertain significance
rs760248377	11:640,216	C/T	—	uncertain significance
rs1418206867	11:640,229	C/T	—	uncertain significance
rs766013337	11:640,238	G/A	—	uncertain significance
rs372805272	11:640,243	A/C	—	likely benign
rs200996360	11:640,253	C/G	—	benign
rs12720410	11:640,254	C/G	synonymous variant	—

Showing 100 of 119 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.