| Entrez gene ID | | 6891 |
|
| Official gene symbol | | TAP2 |
|
| Full name | | transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) |
|
| Aliases | | ,ABC18,ABCB3,APT2,D6S217E,PSF2,RING11, |
|
| Gene 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. This gene is located 7 kb telomeric to gene family member ABCB2. The protein encoded by this gene is involved in antigen presentation. This protein forms a heterodimer with ABCB2 in order to transport peptides from the cytoplasm to the endoplasmic reticulum. Mutations in this gene may be associated with ankylosing spondylitis, insulin-dependent diabetes mellitus, and celiac disease. Alternative splicing of this gene produces two products which differ in peptide selectivity and level of restoration of surface expression of MHC class I molecules. [provided by RefSeq] |
|
| Location | | Chromosome: 6 Locus: 6p21.3 |
|
| Gene position | | 32806547 - 32789610 Map Viewer |
|
| Gene orientation | | minus |
|
| Gene size | | 16938 bp |
|
| Gene sequence |
| |
|
| OMIM ID | | 170261 |
|
|
|
