ABCG8

ATP binding cassette subfamily G member 8

Summary

The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily. The protein encoded by this gene functions to exclude non-cholesterol sterol entry at the intestinal level, promote excretion of cholesterol and sterols into bile, and to facilitate transport of sterols back into the intestinal lumen. It is expressed in a tissue-specific manner in the liver, intestine, and gallbladder. This gene is tandemly arrayed on chromosome 2, in a head-to-head orientation with family member ABCG5. Mutations in this gene may contribute to sterol accumulation and atherosclerosis, and have been observed in patients with sitosterolemia. [provided by RefSeq, Jul 2008]

Known Variants655 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs886056032	2:44,066,140	C/G	—	uncertain significance
rs1446736244	2:44,066,145	G/T	—	uncertain significance
rs949812412	2:44,066,160	G/A	—	likely benign
rs1668457929	2:44,066,162	T/C	—	uncertain significance
rs779984848	2:44,066,166	G/A	—	uncertain significance
rs1054093595	2:44,066,172	G/A	—	uncertain significance
rs72647315	2:44,066,178	A/C	—	likely benign
rs1553375223	2:44,066,183	T/C	—	uncertain significance
rs1668460775	2:44,066,188	G/A	—	likely benign
rs538699999	2:44,066,194	T/C	—	conflicting classifications of pathogenicity
rs1365569134	2:44,066,195	G/T	—	uncertain significance
rs954982677	2:44,066,198	C/G	—	likely benign
rs1009122651	2:44,066,199	G/A	—	uncertain significance
rs1226302403	2:44,066,204	G/A	—	likely benign
rs200951677	2:44,066,207	G/A	—	conflicting classifications of pathogenicity
rs771255227	2:44,066,213	G/C	—	uncertain significance
rs1199531123	2:44,066,214	G/A	—	uncertain significance
rs1171068014	2:44,066,220	G/A	—	uncertain significance
rs1157337875	2:44,066,221	G/C	—	likely benign
rs1668463414	2:44,066,222	G/C	—	likely benign
rs1016895349	2:44,066,223	C/G	—	uncertain significance
rs760005338	2:44,066,227	C/T	—	uncertain significance
rs368998235	2:44,066,228	G/A	—	conflicting classifications of pathogenicity
rs773804452	2:44,066,233	G/C	—	uncertain significance
rs1415052353	2:44,066,234	G/C	—	likely benign
rs761344788	2:44,066,235	G/A	—	likely benign
rs72647316	2:44,066,243	C/A	—	likely benign
rs2466158443	2:44,066,244	C/T	—	pathogenic
rs1558785382	2:44,066,252	C/T	—	likely benign
rs144411000	2:44,066,254	C/T	—	conflicting classifications of pathogenicity
rs574659773	2:44,066,255	G/A	—	uncertain significance
rs1227591445	2:44,066,260	G/A	—	uncertain significance
rs148770185	2:44,066,295	G/A	—	likely benign
rs61226753	2:44,068,976	C/A	upstream gene variant	—
rs75331444	2:44,069,772	G/A	regulatory region variant	—
rs17031713	2:44,071,352	T/A	—	benign
rs113648443	2:44,071,533	A/G	—	likely benign
rs4148209	2:44,071,625	C/A	—	benign
rs373055005	2:44,071,632	C/T	—	likely benign
rs4148210	2:44,071,639	C/T	—	benign
rs934115584	2:44,071,644	A/G	—	pathogenic
rs373228989	2:44,071,646	G/A	—	uncertain significance
rs138925418	2:44,071,658	A/G	—	uncertain significance
rs879383949	2:44,071,661	T/C	—	likely benign
rs1474416976	2:44,071,674	A/C	—	uncertain significance
rs148370122	2:44,071,676	A/G	—	likely benign
rs148456883	2:44,071,679	G/A	—	uncertain significance
rs746154054	2:44,071,681	C/A	—	uncertain significance
rs897087769	2:44,071,682	A/G	—	uncertain significance
rs1000291485	2:44,071,702	C/A	—	pathogenic
rs772660192	2:44,071,704	G/A	—	uncertain significance
rs770421664	2:44,071,712	C/A	—	uncertain significance
rs2466180053	2:44,071,717	C/T	—	likely benign
rs1668682396	2:44,071,726	G/A	—	uncertain significance
rs142250628	2:44,071,736	C/G	—	benign
rs1378746605	2:44,071,739	A/G	—	uncertain significance
rs4148211	2:44,071,743	A/G	missense variant	likely benign
rs1224464053	2:44,071,750	A/G	—	uncertain significance
rs1198591861	2:44,071,756	A/G	—	likely benign
rs574722652	2:44,071,757	C/T	—	conflicting classifications of pathogenicity
rs75365565	2:44,071,760	T/C	—	benign
rs368992754	2:44,071,763	G/T	—	conflicting classifications of pathogenicity
rs55726838	2:44,071,788	G/A	—	likely benign
rs562598492	2:44,071,819	A/T	—	likely benign
rs4148212	2:44,071,833	A/C	—	benign
rs4148213	2:44,071,852	G/C	—	benign
rs4299376	2:44,072,576	G/T	intron variant	—
rs17039142	2:44,073,085	T/C	—	benign
rs75396867	2:44,073,153	G/A	—	benign
rs766274717	2:44,073,277	C/A	—	likely benign
rs973149684	2:44,073,296	G/A	—	conflicting classifications of pathogenicity
rs928965529	2:44,073,298	A/C	—	uncertain significance
rs769533045	2:44,073,300	C/G	—	uncertain significance
rs779861537	2:44,073,303	G/T	—	uncertain significance
rs749036339	2:44,073,304	C/A	—	uncertain significance
rs1383448424	2:44,073,305	C/G	—	likely benign
rs774152997	2:44,073,312	G/A	—	uncertain significance
rs1349667660	2:44,073,324	G/T	—	pathogenic
rs771923992	2:44,073,326	G/T	—	uncertain significance
rs2466184328	2:44,073,329	G/A	—	likely benign
rs766529813	2:44,073,343	A/T	—	uncertain significance
rs373610655	2:44,073,348	C/G	—	uncertain significance
rs2104912471	2:44,073,351	T/G	—	uncertain significance
rs80025980	2:44,073,367	G/A	—	likely benign
rs376761538	2:44,073,383	G/T	—	uncertain significance
rs370573461	2:44,073,391	T/C	—	uncertain significance
rs768306135	2:44,073,398	C/G	—	likely benign
rs778819090	2:44,073,399	C/T	—	likely benign
rs1255685258	2:44,073,400	T/G	—	uncertain significance
rs372921526	2:44,073,403	G/A	—	uncertain significance
rs771977246	2:44,073,404	C/T	—	likely benign
rs1668740293	2:44,073,410	A/C	—	uncertain significance
rs2104912533	2:44,073,412	T/G	—	uncertain significance
rs771060960	2:44,073,413	G/C	—	conflicting classifications of pathogenicity
rs1421003606	2:44,073,415	G/T	—	uncertain significance
rs147033790	2:44,073,419	T/C	—	likely benign
rs1426776095	2:44,073,423	C/T	—	likely pathogenic
rs1407428130	2:44,073,436	T/A	—	uncertain significance
rs137854891	2:44,073,448	C/G	stop gained	pathogenic
rs377340438	2:44,073,455	C/T	—	uncertain significance

Showing 100 of 655 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.