TAP2 explained

TAP2 is a gene in humans that encodes the protein Antigen peptide transporter 2.^{[1] [2] [3]}

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,^[4] 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.^[5]

See also

• ATP-binding cassette transporter

Further reading

• Townsend A, Trowsdale J . The transporters associated with antigen presentation . Semin. Cell Biol. . 4 . 1 . 53–61 . 1993 . 8453065 . 10.1006/scel.1993.1007 .
• Beck S, Kelly A, Radley E, Khurshid F, Alderton RP, Trowsdale J . 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 . 1992 . 1453454 . 10.1016/0022-2836(92)90832-5 .
• Kelly A, Powis SH, Kerr LA, Mockridge I, Elliott T, Bastin J, Uchanska-Ziegler B, Ziegler A, Trowsdale J, Townsend A . Assembly and function of the two ABC transporter proteins encoded in the human major histocompatibility complex . Nature . 355 . 6361 . 641–4 . 1992 . 1538751 . 10.1038/355641a0 . 1992Natur.355..641K . 32569414 . free .
• Colonna M, Bresnahan M, Bahram S, Strominger JL, Spies T . Allelic variants of the human putative peptide transporter involved in antigen processing . Proc. Natl. Acad. Sci. U.S.A. . 89 . 9 . 3932–6 . 1992 . 1570316 . 525605 . 10.1073/pnas.89.9.3932 . 1992PNAS...89.3932C . free .
• Powis SH, Mockridge I, Kelly A, Kerr LA, Glynne R, Gileadi U, Beck S, Trowsdale J . Polymorphism in a second ABC transporter gene located within the class II region of the human major histocompatibility complex . Proc. Natl. Acad. Sci. U.S.A. . 89 . 4 . 1463–7 . 1992 . 1741401 . 48471 . 10.1073/pnas.89.4.1463 . 1992PNAS...89.1463P . free .
• Trowsdale J, Hanson I, Mockridge I, Beck S, Townsend A, Kelly A . Sequences encoded in the class II region of the MHC related to the 'ABC' superfamily of transporters . Nature . 348 . 6303 . 741–4 . 1991 . 2259383 . 10.1038/348741a0 . 4279033 .
• de la Salle H, Hanau D, Fricker D, Urlacher A, Kelly A, Salamero J, Powis SH, Donato L, Bausinger H, Laforet M . Homozygous human TAP peptide transporter mutation in HLA class I deficiency . Science . 265 . 5169 . 237–41 . 1994 . 7517574 . 10.1126/science.7517574 . 1994Sci...265..237D .
• Cano P, Baxter-Lowe LA . Novel human TAP2*103 allele shows further polymorphism in the ATP-binding domain . Tissue Antigens . 45 . 2 . 139–42 . 1995 . 7792761 . 10.1111/j.1399-0039.1995.tb02431.x .
• Roby KF, Fei K, Yang Y, Hunt JS . Expression of HLA class II-associated peptide transporter and proteasome genes in human placentas and trophoblast cell lines . Immunology . 83 . 3 . 444–8 . 1995 . 7835969 . 1415039 .
• Maruyama K, Sugano S . Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides . Gene . 138 . 1–2 . 171–4 . 1994 . 8125298 . 10.1016/0378-1119(94)90802-8 .
• Singal DP, Ye M, Qiu X, D'Souza M . Polymorphisms in the TAP2 gene and their association with rheumatoid arthritis . Clin. Exp. Rheumatol. . 12 . 1 . 29–33 . 1994 . 8162639 .
• Powis SH, Tonks S, Mockridge I, Kelly AP, Bodmer JG, Trowsdale J . Alleles and haplotypes of the MHC-encoded ABC transporters TAP1 and TAP2 . Immunogenetics . 37 . 5 . 373–80 . 1993 . 8428770 . 10.1007/BF00216802 . 35123181 .
• Glynne R, Kerr LA, Mockridge I, Beck S, Kelly A, Trowsdale J . The major histocompatibility complex-encoded proteasome component LMP7: alternative first exons and post-translational processing . Eur. J. Immunol. . 23 . 4 . 860–6 . 1993 . 8458375 . 10.1002/eji.1830230414 . 44733094 .
• 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 . Evolutionary dynamics of non-coding sequences within the class II region of the human MHC . J. Mol. Biol. . 255 . 1 . 1–13 . 1996 . 8568858 . 10.1006/jmbi.1996.0001 .
• Ahn K, Meyer TH, Uebel S, Sempé P, Djaballah H, Yang Y, Peterson PA, Früh K, Tampé R . Molecular mechanism and species specificity of TAP inhibition by herpes simplex virus ICP47 . EMBO J. . 15 . 13 . 3247–55 . 1996 . 8670825 . 451885 . 10.1002/j.1460-2075.1996.tb00689.x.
• Pattanakitsakul S, Takeuchi F, Nabeta H, Nakano K, Kuwata S, Yanagisawa M, Shibata Y, Ito K . A novel TAP 2 gene RFLP observed in a Japanese . Tissue Antigens . 47 . 4 . 353–5 . 1996 . 8773329 . 10.1111/j.1399-0039.1996.tb02567.x .
• Lewis JW, Neisig A, Neefjes J, Elliott T . Point mutations in the alpha 2 domain of HLA-A2.1 define a functionally relevant interaction with TAP . Curr. Biol. . 6 . 7 . 873–83 . 1997 . 8805302 . 10.1016/S0960-9822(02)00611-5 . free .

Notes and References

1. Bodmer JG, Marsh SG, Albert ED, Bodmer WF, Dupont B, Erlich HA, Mach B, Mayr WR, Parham P, Sasazuki T . Nomenclature for factors of the HLA system, 1991. WHO Nomenclature Committee for factors of the HLA system . Tissue Antigens . 39 . 4 . 161–73 . Oct 1992 . 1529427 . 10.1111/j.1399-0039.1992.tb01932.x . free .
2. Bahram S, Arnold D, Bresnahan M, Strominger JL, Spies T . Two putative subunits of a peptide pump encoded in the human major histocompatibility complex class II region . Proc Natl Acad Sci U S A . 88 . 22 . 10094–8 . Dec 1991 . 1946428 . 52874 . 10.1073/pnas.88.22.10094 . 1991PNAS...8810094B . free .
3. Hahn Y, Lee B . Human-specific nonsense mutations identified by genome sequence comparisons . Hum Genet . 119 . 1–2 . 169–78 . Feb 2006 . 16395595 . 10.1007/s00439-005-0125-6 . 21059468 .
4. Yu H . Protein-interaction-network-based analysis for genome-wide association analysis of schizophrenia in Han Chinese population. . Journal of Psychiatric Research . 2014 . 50 . 73–8 . 10.1016/j.jpsychires.2013.11.014 . 24365204 .
5. Web site: Entrez Gene: TAP2 transporter 2, ATP-binding cassette, sub-family B (MDR/TAP).