ABCB9
ATP binding cassette subfamily B member 9
Summary
The membrane-associated 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 MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. This family member functions in the translocation of peptides from the cytosol into the lysosomal lumen. Alternative splicing of this gene results in distinct isoforms which are likely to have different substrate specificities. [provided by RefSeq, Jul 2011]
Known Variants58 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2270788 | 12:123,414,349 | T/C | 3 prime UTR variant | — |
| rs529640877 | 12:123,414,481 | C/T | — | uncertain significance |
| rs772750441 | 12:123,414,540 | C/T | — | uncertain significance |
| rs376322922 | 12:123,414,609 | C/T | — | uncertain significance |
| rs142777722 | 12:123,414,625 | C/A | — | uncertain significance |
| rs370679674 | 12:123,414,638 | C/T | — | likely benign |
| rs1254967151 | 12:123,414,640 | C/T | — | uncertain significance |
| rs1275195096 | 12:123,414,666 | G/A | — | uncertain significance |
| rs756487180 | 12:123,414,680 | C/T | — | likely benign |
| rs1343501513 | 12:123,416,753 | C/T | — | uncertain significance |
| rs774362505 | 12:123,416,804 | G/A | — | uncertain significance |
| rs147328787 | 12:123,419,855 | C/T | — | uncertain significance |
| rs540720609 | 12:123,419,884 | A/G | — | uncertain significance |
| rs370215646 | 12:123,419,942 | G/A | — | uncertain significance |
| rs763436577 | 12:123,419,954 | C/A | — | uncertain significance |
| rs775039652 | 12:123,424,693 | T/C | — | uncertain significance |
| rs775308654 | 12:123,424,716 | C/T | — | uncertain significance |
| rs2547434371 | 12:123,424,719 | C/T | — | uncertain significance |
| rs371490151 | 12:123,424,741 | T/A | — | uncertain significance |
| rs564444198 | 12:123,424,807 | C/T | — | uncertain significance |
| rs2035686486 | 12:123,424,812 | G/C | — | likely benign |
| rs367915463 | 12:123,425,383 | G/A | — | uncertain significance |
| rs773009223 | 12:123,425,415 | C/T | — | uncertain significance |
| rs2547436602 | 12:123,425,442 | C/G | — | uncertain significance |
| rs145019042 | 12:123,425,449 | C/T | — | uncertain significance |
| rs138796249 | 12:123,425,469 | C/T | — | uncertain significance |
| rs766583088 | 12:123,425,524 | T/C | — | uncertain significance |
| rs755498117 | 12:123,425,530 | C/T | — | uncertain significance |
| rs147318444 | 12:123,428,991 | C/T | — | uncertain significance |
| rs763611823 | 12:123,429,001 | C/G | — | uncertain significance |
| rs756211564 | 12:123,430,616 | T/C | — | uncertain significance |
| rs1022178319 | 12:123,430,732 | G/A | — | uncertain significance |
| rs2547453520 | 12:123,433,248 | A/T | — | uncertain significance |
| rs768654566 | 12:123,433,362 | G/A | — | uncertain significance |
| rs759792704 | 12:123,434,340 | C/T | — | uncertain significance |
| rs2547456744 | 12:123,434,354 | G/T | — | uncertain significance |
| rs1450743307 | 12:123,434,374 | C/T | — | uncertain significance |
| rs143585191 | 12:123,434,404 | G/A | — | uncertain significance |
| rs199924546 | 12:123,434,440 | C/T | — | uncertain significance |
| rs114703181 | 12:123,434,449 | T/C | — | uncertain significance |
| rs569256573 | 12:123,435,020 | C/T | — | likely benign |
| rs140451259 | 12:123,435,026 | C/T | — | likely benign |
| rs201867247 | 12:123,435,083 | G/C | — | uncertain significance |
| rs2547473807 | 12:123,444,338 | G/A | — | uncertain significance |
| rs200138233 | 12:123,444,361 | C/T | — | uncertain significance |
| rs3803002 | 12:123,444,422 | C/A | — | uncertain significance |
| rs1165336149 | 12:123,444,460 | C/T | — | uncertain significance |
| rs768512748 | 12:123,444,545 | G/A | — | uncertain significance |
| rs202243167 | 12:123,444,565 | G/A | — | uncertain significance |
| rs2547474931 | 12:123,444,644 | C/T | — | uncertain significance |
| rs777134549 | 12:123,444,667 | C/T | — | uncertain significance |
| rs760149562 | 12:123,444,668 | G/A | — | uncertain significance |
| rs2036819497 | 12:123,444,719 | T/G | — | uncertain significance |
| rs376731935 | 12:123,444,745 | A/G | — | uncertain significance |
| rs139920622 | 12:123,444,778 | C/T | — | likely benign |
| rs149734521 | 12:123,444,779 | G/A | — | uncertain significance |
| rs11061016 | 12:123,445,796 | G/A | intron variant | — |
| rs7296418 | 12:123,457,619 | C/T | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.