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 |
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OMIM ID | | 170261 |
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