TAP2 is a gene in humans that encodes the proteinAntigen peptide transporter 2.[5][6][7]
Function
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 (TAP1). 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, schizophrenia,[8] 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.[9]
^Yu H (2014). "Protein-interaction-network-based analysis for genome-wide association analysis of schizophrenia in Han Chinese population". Journal of Psychiatric Research. 50: 73–8. doi:10.1016/j.jpsychires.2013.11.014. PMID24365204.
Townsend A, Trowsdale J (1993). "The transporters associated with antigen presentation". Semin. Cell Biol. 4 (1): 53–61. doi:10.1006/scel.1993.1007. PMID8453065.
Beck S, Kelly A, Radley E, Khurshid F, Alderton RP, Trowsdale J (1992). "DNA sequence analysis of 66 kb of the human MHC class II region encoding a cluster of genes for antigen processing". J. Mol. Biol. 228 (2): 433–41. doi:10.1016/0022-2836(92)90832-5. PMID1453454.
Trowsdale J, Hanson I, Mockridge I, Beck S, Townsend A, Kelly A (1991). "Sequences encoded in the class II region of the MHC related to the 'ABC' superfamily of transporters". Nature. 348 (6303): 741–4. doi:10.1038/348741a0. PMID2259383. S2CID4279033.
de la Salle H, Hanau D, Fricker D, Urlacher A, Kelly A, Salamero J, Powis SH, Donato L, Bausinger H, Laforet M (1994). "Homozygous human TAP peptide transporter mutation in HLA class I deficiency". Science. 265 (5169): 237–41. Bibcode:1994Sci...265..237D. doi:10.1126/science.7517574. PMID7517574.
Cano P, Baxter-Lowe LA (1995). "Novel human TAP2*103 allele shows further polymorphism in the ATP-binding domain". Tissue Antigens. 45 (2): 139–42. doi:10.1111/j.1399-0039.1995.tb02431.x. PMID7792761.
Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID8125298.
Singal DP, Ye M, Qiu X, D'Souza M (1994). "Polymorphisms in the TAP2 gene and their association with rheumatoid arthritis". Clin. Exp. Rheumatol. 12 (1): 29–33. PMID8162639.
Powis SH, Tonks S, Mockridge I, Kelly AP, Bodmer JG, Trowsdale J (1993). "Alleles and haplotypes of the MHC-encoded ABC transporters TAP1 and TAP2". Immunogenetics. 37 (5): 373–80. doi:10.1007/BF00216802. PMID8428770. S2CID35123181.
Glynne R, Kerr LA, Mockridge I, Beck S, Kelly A, Trowsdale J (1993). "The major histocompatibility complex-encoded proteasome component LMP7: alternative first exons and post-translational processing". Eur. J. Immunol. 23 (4): 860–6. doi:10.1002/eji.1830230414. PMID8458375. S2CID44733094.
Beck S, Abdulla S, Alderton RP, Glynne RJ, Gut IG, Hosking LK, Jackson A, Kelly A, Newell WR, Sanseau P, Radley E, Thorpe KL, Trowsdale J (1996). "Evolutionary dynamics of non-coding sequences within the class II region of the human MHC". J. Mol. Biol. 255 (1): 1–13. doi:10.1006/jmbi.1996.0001. PMID8568858.
Pattanakitsakul S, Takeuchi F, Nabeta H, Nakano K, Kuwata S, Yanagisawa M, Shibata Y, Ito K (1996). "A novel TAP 2 gene RFLP observed in a Japanese". Tissue Antigens. 47 (4): 353–5. doi:10.1111/j.1399-0039.1996.tb02567.x. PMID8773329.
