ABCG5

ATP binding cassette subfamily G member 5

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 as a half-transporter to limit intestinal absorption and promote biliary excretion of sterols. It is expressed in a tissue-specific manner in the liver, colon, and intestine. This gene is tandemly arrayed on chromosome 2, in a head-to-head orientation with family member ABCG8. Mutations in this gene may contribute to sterol accumulation and atheroschlerosis, and have been observed in patients with sitosterolemia. [provided by RefSeq, Jul 2008]

Known Variants538 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs4148195	2:44,039,633	G/A	—	benign
rs144987434	2:44,039,634	G/A	—	uncertain significance
rs151005348	2:44,039,663	C/T	—	uncertain significance
rs77638440	2:44,039,720	G/A	—	benign
rs77105521	2:44,039,733	C/T	—	benign
rs547604287	2:44,039,744	G/T	—	uncertain significance
rs2278357	2:44,039,839	C/T	—	benign
rs79475203	2:44,039,856	G/A	—	benign
rs2278356	2:44,039,875	A/C	—	benign
rs536340107	2:44,039,903	A/G	—	uncertain significance
rs114868704	2:44,039,970	C/G	—	conflicting classifications of pathogenicity
rs376140340	2:44,040,030	C/A	—	uncertain significance
rs922810299	2:44,040,102	G/T	—	uncertain significance
rs77265083	2:44,040,183	C/T	—	likely benign
rs759846565	2:44,040,259	C/T	—	uncertain significance
rs1184078765	2:44,040,261	G/A	—	uncertain significance
rs2467123452	2:44,040,266	T/G	—	uncertain significance
rs2467123505	2:44,040,269	G/A	—	uncertain significance
rs1458239200	2:44,040,298	C/T	—	uncertain significance
rs745775861	2:44,040,301	A/G	—	uncertain significance
rs1666569140	2:44,040,307	A/G	—	uncertain significance
rs1393135701	2:44,040,313	G/C	—	uncertain significance
rs1160201715	2:44,040,320	T/A	—	uncertain significance
rs780262808	2:44,040,323	A/T	—	uncertain significance
rs772295351	2:44,040,325	G/C	—	conflicting classifications of pathogenicity
rs768890956	2:44,040,333	A/G	—	likely benign
rs2467124287	2:44,040,337	A/G	—	uncertain significance
rs774651183	2:44,040,338	G/C	—	uncertain significance
rs1160369231	2:44,040,339	A/G	—	likely benign
rs150401285	2:44,040,341	A/G	—	uncertain significance
rs140374206	2:44,040,347	T/C	—	likely benign
rs374012053	2:44,040,355	C/G	—	uncertain significance
rs528636525	2:44,040,361	G/C	—	uncertain significance
rs763595177	2:44,040,368	C/A	—	uncertain significance
rs1572735428	2:44,040,373	C/T	—	uncertain significance
rs2467125034	2:44,040,376	G/T	—	uncertain significance
rs750285438	2:44,040,383	C/G	—	uncertain significance
rs755999941	2:44,040,385	A/G	—	uncertain significance
rs199967611	2:44,040,386	T/C	—	uncertain significance
rs150716811	2:44,040,405	G/A	—	conflicting classifications of pathogenicity
rs779109455	2:44,040,412	C/T	—	uncertain significance
rs1666578353	2:44,040,419	G/T	—	uncertain significance
rs2467125975	2:44,040,435	A/C	—	likely benign
rs777055543	2:44,040,436	A/G	—	uncertain significance
rs201902491	2:44,040,440	T/C	—	uncertain significance
rs1280347803	2:44,040,441	T/G	—	conflicting classifications of pathogenicity
rs1666580204	2:44,040,443	A/G	—	uncertain significance
rs1428480606	2:44,040,449	C/T	—	pathogenic
rs114780578	2:44,040,455	A/C	—	likely benign
rs373162711	2:44,040,464	T/G	—	likely benign
rs766293298	2:44,040,466	G/A	—	likely benign
rs17031651	2:44,040,562	G/C	—	benign
rs17031655	2:44,040,658	A/G	—	benign
rs114098567	2:44,041,279	C/T	—	benign
rs374254631	2:44,041,601	A/G	—	likely benign
rs1666688158	2:44,041,602	A/G	—	likely benign
rs566834640	2:44,041,605	A/G	—	likely benign
rs754944896	2:44,041,615	C/T	—	pathogenic
rs141053836	2:44,041,620	A/G	—	likely benign
rs144973796	2:44,041,634	C/T	—	conflicting classifications of pathogenicity
rs146534033	2:44,041,645	T/C	—	uncertain significance
rs1212789013	2:44,041,647	G/A	—	likely benign
rs757537317	2:44,041,651	A/G	—	uncertain significance
rs2465896336	2:44,041,658	T/A	—	uncertain significance
rs370371131	2:44,041,667	A/G	—	uncertain significance
rs776001498	2:44,041,671	T/G	—	uncertain significance
rs1666693444	2:44,041,680	T/C	—	likely benign
rs2465896680	2:44,041,688	A/G	—	uncertain significance
rs1295585629	2:44,041,689	A/G	—	likely benign
rs538393765	2:44,041,692	G/T	—	likely benign
rs772925269	2:44,041,706	G/C	—	uncertain significance
rs2465896959	2:44,041,708	A/G	—	uncertain significance
rs1298835170	2:44,041,710	G/A	—	likely benign
rs1461975219	2:44,041,711	G/A	—	uncertain significance
rs1171022283	2:44,041,721	G/A	—	pathogenic
rs766184959	2:44,041,723	A/G	—	uncertain significance
rs2465897154	2:44,041,724	T/G	—	uncertain significance
rs2465897416	2:44,041,742	A/G	—	likely benign
rs74424483	2:44,041,894	T/G	—	benign
rs116468336	2:44,046,912	C/T	—	likely benign
rs770594428	2:44,047,045	A/T	—	likely benign
rs1210392945	2:44,047,059	G/A	—	likely benign
rs2104783854	2:44,047,063	C/G	—	uncertain significance
rs759123861	2:44,047,068	T/C	—	likely benign
rs1667078197	2:44,047,072	A/T	—	uncertain significance
rs1394341666	2:44,047,074	A/T	—	likely benign
rs199862542	2:44,047,075	A/G	—	uncertain significance
rs951160382	2:44,047,079	C/G	—	uncertain significance
rs142109022	2:44,047,082	C/A	—	uncertain significance
rs145527220	2:44,047,083	C/T	—	likely benign
rs1558730921	2:44,047,087	A/G	—	uncertain significance
rs1341047322	2:44,047,097	G/A	—	likely benign
rs2465951290	2:44,047,098	A/T	—	likely benign
rs1222841214	2:44,047,100	C/T	—	uncertain significance
rs1280735521	2:44,047,101	C/G	—	conflicting classifications of pathogenicity
rs2465951443	2:44,047,107	A/T	—	uncertain significance
rs1346546890	2:44,047,110	G/T	—	uncertain significance
rs986503686	2:44,047,117	A/G	—	uncertain significance
rs780435724	2:44,047,119	A/G	—	likely benign
rs2465951776	2:44,047,130	G/A	—	pathogenic

Showing 100 of 538 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.