ABCG4
ATP binding cassette subfamily G member 4
Summary
The protein encoded by this gene is a member of the ATP-binding cassette (ABC) transporter superfamily. 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). The encoded protein is a member of the White subfamily and plays an important role in cellular cholesterol homeostasis. This protein functions as either a homodimer or as a heterodimer with another ABC subfamily protein such as ABCG1. [provided by RefSeq, Jan 2017]
Known Variants22 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs556090631 | 11:119,020,689 | C/T | — | uncertain significance |
| rs752059482 | 11:119,020,743 | C/A | — | uncertain significance |
| rs2497795691 | 11:119,020,757 | G/A | — | uncertain significance |
| rs193920956 | 11:119,020,912 | G/T | — | uncertain significance |
| rs145297995 | 11:119,024,778 | G/A | — | uncertain significance |
| rs201626266 | 11:119,025,074 | C/T | — | uncertain significance |
| rs12277959 | 11:119,025,279 | G/A | — | benign |
| rs137886209 | 11:119,027,111 | C/G | — | uncertain significance |
| rs201193587 | 11:119,027,656 | G/A | — | likely benign |
| rs12271907 | 11:119,027,691 | C/T | — | benign |
| rs370592684 | 11:119,027,695 | G/A | — | uncertain significance |
| rs35060365 | 11:119,027,711 | C/T | — | benign |
| rs139556601 | 11:119,029,041 | C/T | — | uncertain significance |
| rs774948961 | 11:119,029,304 | T/C | — | uncertain significance |
| rs145359289 | 11:119,029,342 | G/A | — | likely benign |
| rs368538395 | 11:119,029,372 | G/A | — | uncertain significance |
| rs2497817216 | 11:119,029,556 | G/A | — | uncertain significance |
| rs761972933 | 11:119,030,967 | G/A | — | uncertain significance |
| rs542544848 | 11:119,031,031 | C/T | — | uncertain significance |
| rs777625706 | 11:119,031,674 | G/A | — | likely benign |
| rs1211180265 | 11:119,031,796 | C/T | — | uncertain significance |
| rs768243617 | 11:119,031,797 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.