OSBP2
oxysterol binding protein 2
Summary
The protein encoded by this gene contains a pleckstrin homology (PH) domain and an oxysterol-binding region. It binds oxysterols such as 7-ketocholesterol and may inhibit their cytotoxicity. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2013]
Known Variants61 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs752295297 | 22:31,090,906 | G/A | — | uncertain significance |
| rs182152986 | 22:31,090,971 | G/C | — | benign |
| rs2089003495 | 22:31,091,131 | A/G | — | uncertain significance |
| rs41279969 | 22:31,091,154 | G/A | — | likely benign |
| rs765817634 | 22:31,091,156 | C/T | — | uncertain significance |
| rs1295560511 | 22:31,091,162 | A/G | — | uncertain significance |
| rs111501980 | 22:31,091,265 | A/G | — | benign |
| rs79856312 | 22:31,091,305 | C/T | — | benign |
| rs1205343226 | 22:31,091,445 | C/G | — | uncertain significance |
| rs777229880 | 22:31,091,464 | C/T | — | uncertain significance |
| rs572288473 | 22:31,099,028 | C/T | — | — |
| rs2518116580 | 22:31,137,255 | G/C | — | likely benign |
| rs201288421 | 22:31,137,326 | A/G | — | uncertain significance |
| rs9609078 | 22:31,153,276 | G/T | — | — |
| rs76083736 | 22:31,157,165 | A/G | intron variant | — |
| rs145253676 | 22:31,163,397 | C/T | intron variant | — |
| rs136301 | 22:31,181,571 | C/A | — | — |
| rs3804082 | 22:31,186,309 | A/G | intron variant | — |
| rs136293 | 22:31,189,236 | G/A | intron variant | — |
| rs136280 | 22:31,193,801 | A/G | intron variant | — |
| rs146531709 | 22:31,222,451 | C/T | intron variant | — |
| rs183696935 | 22:31,227,391 | G/A | regulatory region variant | — |
| rs12165942 | 22:31,254,775 | A/T | — | — |
| rs770719701 | 22:31,266,515 | C/T | — | uncertain significance |
| rs2301816 | 22:31,266,546 | T/C | — | benign |
| rs61729255 | 22:31,266,552 | C/T | — | benign |
| rs202094165 | 22:31,266,574 | G/A | — | uncertain significance |
| rs922326483 | 22:31,266,588 | C/G | — | uncertain significance |
| rs747327005 | 22:31,266,629 | G/A | — | uncertain significance |
| rs764409649 | 22:31,266,652 | T/G | — | uncertain significance |
| rs749694033 | 22:31,283,440 | G/A | — | uncertain significance |
| rs779291599 | 22:31,283,450 | G/A | — | uncertain significance |
| rs762505623 | 22:31,283,491 | C/T | — | uncertain significance |
| rs748651216 | 22:31,283,548 | C/T | — | uncertain significance |
| rs904686298 | 22:31,283,566 | C/T | — | uncertain significance |
| rs566695358 | 22:31,284,223 | T/C | — | likely benign |
| rs1262839146 | 22:31,285,189 | A/G | — | uncertain significance |
| rs200103201 | 22:31,285,230 | G/C | — | benign |
| rs1045911167 | 22:31,285,513 | T/G | — | uncertain significance |
| rs2518473330 | 22:31,285,514 | C/T | — | uncertain significance |
| rs372873880 | 22:31,285,535 | G/A | — | uncertain significance |
| rs202112750 | 22:31,285,597 | C/T | — | uncertain significance |
| rs1164480950 | 22:31,286,774 | C/A | — | uncertain significance |
| rs2518477734 | 22:31,286,775 | C/A | — | uncertain significance |
| rs2518478115 | 22:31,286,816 | G/T | — | uncertain significance |
| rs61729258 | 22:31,286,843 | T/C | — | benign |
| rs776598212 | 22:31,286,877 | G/A | — | uncertain significance |
| rs182014737 | 22:31,289,125 | C/A | — | uncertain significance |
| rs199797396 | 22:31,289,165 | C/A | — | uncertain significance |
| rs35988107 | 22:31,289,477 | G/C | — | benign |
| rs375434954 | 22:31,289,491 | G/A | — | uncertain significance |
| rs370229726 | 22:31,289,520 | C/A | — | uncertain significance |
| rs967555975 | 22:31,289,548 | G/A | — | uncertain significance |
| rs1009182762 | 22:31,289,715 | C/T | — | uncertain significance |
| rs548187834 | 22:31,289,716 | G/A | — | uncertain significance |
| rs1214005463 | 22:31,289,889 | T/C | — | uncertain significance |
| rs199668359 | 22:31,289,894 | C/T | — | uncertain significance |
| rs2518532349 | 22:31,301,913 | T/G | — | uncertain significance |
| rs377386207 | 22:31,302,006 | G/A | — | conflicting classifications of pathogenicity |
| rs3804085 | 22:31,302,233 | T/C | — | benign |
| rs5753383 | 22:31,304,201 | G/T | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.