Aliases for TAP2 Gene
External Ids for TAP2 Gene
Previous HGNC Symbols for TAP2 Gene
Previous GeneCards Identifiers for TAP2 Gene
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 products which differ in peptide selectivity and level of restoration of surface expression of MHC class I molecules. [provided by RefSeq, Feb 2014]
GeneCards Summary for TAP2 Gene
TAP2 (Transporter 2, ATP-Binding Cassette, Sub-Family B (MDR/TAP)) is a Protein Coding gene. Diseases associated with TAP2 include Bare Lymphocyte Syndrome, Type I and Immunodeficiency By Defective Expression Of Hla Class 1. Among its related pathways are NF-kappaB Signaling and Antigen Presentation- Folding, assembly and peptide loading of class I MHC. GO annotations related to this gene include transporter activity and ATPase activity, coupled to transmembrane movement of substances. An important paralog of this gene is TAP1.
UniProtKB/Swiss-Prot for TAP2 Gene
Involved in the transport of antigens from the cytoplasm to the endoplasmic reticulum for association with MHC class I molecules. Also acts as a molecular scaffold for the final stage of MHC class I folding, namely the binding of peptide. Nascent MHC class I molecules associate with TAP via tapasin. Inhibited by the covalent attachment of herpes simplex virus ICP47 protein, which blocks the peptide-binding site of TAP. Inhibited by human cytomegalovirus US6 glycoprotein, which binds to the lumenal side of the TAP complex and inhibits peptide translocation by specifically blocking ATP-binding to TAP1 and prevents the conformational rearrangement of TAP induced by peptide binding. Inhibited by human adenovirus E3-19K glycoprotein, which binds the TAP complex and acts as a tapasin inhibitor, preventing MHC class I/TAP association.