OSBPL8
oxysterol binding protein like 8
Summary
This gene encodes a member of a family of proteins containing an N-terminal pleckstrin homology domain and a highly conserved C-terminal oxysterol-binding protein-like sterol-binding domain. It binds mutliple lipid-containing molecules, including phosphatidylserine, phosphatidylinositol 4-phosphate (PI4P) and oxysterol, and promotes their exchange between the endoplasmic reticulum and the plasma membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
Known Variants27 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1031969276 | 12:76,750,500 | C/T | — | uncertain significance |
| rs142715650 | 12:76,763,004 | C/A | — | uncertain significance |
| rs371899754 | 12:76,763,005 | G/A | — | uncertain significance |
| rs543516874 | 12:76,763,016 | T/C | — | uncertain significance |
| rs2541093157 | 12:76,763,059 | T/G | — | uncertain significance |
| rs773160588 | 12:76,763,498 | C/T | — | uncertain significance |
| rs773727707 | 12:76,763,505 | T/C | — | uncertain significance |
| rs1035101887 | 12:76,765,300 | G/A | — | uncertain significance |
| rs1461746208 | 12:76,765,861 | T/C | — | — |
| rs371602634 | 12:76,779,970 | T/A | — | uncertain significance |
| rs778878248 | 12:76,780,408 | A/G | — | uncertain significance |
| rs201149042 | 12:76,784,229 | T/C | — | uncertain significance |
| rs147109593 | 12:76,784,274 | A/G | — | uncertain significance |
| rs2541337684 | 12:76,784,396 | T/C | — | uncertain significance |
| rs1486188852 | 12:76,784,432 | T/C | — | uncertain significance |
| rs1447244396 | 12:76,786,363 | G/C | — | uncertain significance |
| rs2541395533 | 12:76,788,443 | C/T | — | uncertain significance |
| rs2541395773 | 12:76,788,460 | C/T | — | uncertain significance |
| rs2541423945 | 12:76,791,497 | C/T | — | uncertain significance |
| rs1023130700 | 12:76,793,754 | C/T | — | uncertain significance |
| rs753921979 | 12:76,796,488 | G/C | — | uncertain significance |
| rs2541534393 | 12:76,804,354 | G/A | — | uncertain significance |
| rs2541534771 | 12:76,804,391 | T/C | — | uncertain significance |
| rs2541881513 | 12:76,844,642 | G/A | — | uncertain significance |
| rs1032550332 | 12:76,844,678 | T/C | — | uncertain significance |
| rs745998688 | 12:76,844,702 | T/G | — | uncertain significance |
| rs200979388 | 12:76,844,748 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.