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Transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)
Identifiers
Symbols TAP2; ABC18; ABCB3; APT2; D6S217E; PSF2; RING11
External IDs OMIM170261 MGI98484 HomoloGene37323 GeneCards: TAP2 Gene
RNA expression pattern
PBB GE TAP2 204769 s at tn.png
PBB GE TAP2 204770 at tn.png
PBB GE TAP2 208428 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 6891 21355
Ensembl ENSG00000204267 ENSMUSG00000024339
UniProt Q03519 Q3TXM1
RefSeq (mRNA) NM_000544 NM_011530
RefSeq (protein) NP_000535 NP_035660
Location (UCSC) Chr 6:
32.9 - 32.91 Mb
Chr 17:
33.81 - 33.83 Mb
PubMed search [1] [2]

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

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.[4]

Contents

See also

References

  1. ^ Bodmer JG, Marsh SG, Albert ED, Bodmer WF, Dupont B, Erlich HA, Mach B, Mayr WR, Parham P, Sasazuki T, et al. (Oct 1992). "Nomenclature for factors of the HLA system, 1991. WHO Nomenclature Committee for factors of the HLA system". Tissue Antigens 39 (4): 161-73. PMID 1529427.  
  2. ^ Bahram S, Arnold D, Bresnahan M, Strominger JL, Spies T (Dec 1991). "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. PMID 1946428.  
  3. ^ Hahn Y, Lee B (Feb 2006). "Human-specific nonsense mutations identified by genome sequence comparisons". Hum Genet 119 (1-2): 169-78. doi:10.1007/s00439-005-0125-6. PMID 16395595.  
  4. ^ "Entrez Gene: TAP2 transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6891.  

Further reading

  • Townsend A, Trowsdale J (1993). "The transporters associated with antigen presentation.". Semin. Cell Biol. 4 (1): 53–61. doi:10.1006/scel.1993.1007. PMID 8453065.  
  • Beck S, Kelly A, Radley E, et al. (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. PMID 1453454.  
  • Kelly A, Powis SH, Kerr LA, et al. (1992). "Assembly and function of the two ABC transporter proteins encoded in the human major histocompatibility complex.". Nature 355 (6361): 641–4. doi:10.1038/355641a0. PMID 1538751.  
  • Colonna M, Bresnahan M, Bahram S, et al. (1992). "Allelic variants of the human putative peptide transporter involved in antigen processing.". Proc. Natl. Acad. Sci. U.S.A. 89 (9): 3932–6. doi:10.1073/pnas.89.9.3932. PMID 1570316.  
  • Powis SH, Mockridge I, Kelly A, et al. (1992). "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. doi:10.1073/pnas.89.4.1463. PMID 1741401.  
  • Trowsdale J, Hanson I, Mockridge I, et al. (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. PMID 2259383.  
  • de la Salle H, Hanau D, Fricker D, et al. (1994). "Homozygous human TAP peptide transporter mutation in HLA class I deficiency.". Science 265 (5169): 237–41. doi:10.1126/science.7517574. PMID 7517574.  
  • 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. PMID 7792761.  
  • Roby KF, Fei K, Yang Y, Hunt JS (1995). "Expression of HLA class II-associated peptide transporter and proteasome genes in human placentas and trophoblast cell lines.". Immunology 83 (3): 444–8. PMID 7835969.  
  • 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. PMID 8125298.  
  • 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. PMID 8162639.  
  • Powis SH, Tonks S, Mockridge I, et al. (1993). "Alleles and haplotypes of the MHC-encoded ABC transporters TAP1 and TAP2.". Immunogenetics 37 (5): 373–80. doi:10.1007/BF00216802. PMID 8428770.  
  • Glynne R, Kerr LA, Mockridge I, et al. (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. PMID 8458375.  
  • Beck S, Abdulla S, Alderton RP, et al. (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. PMID 8568858.  
  • Ahn K, Meyer TH, Uebel S, et al. (1996). "Molecular mechanism and species specificity of TAP inhibition by herpes simplex virus ICP47.". Embo J. 15 (13): 3247–55. PMID 8670825.  
  • Pattanakitsakul S, Takeuchi F, Nabeta H, et al. (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. PMID 8773329.  
  • Lewis JW, Neisig A, Neefjes J, Elliott T (1997). "Point mutations in the alpha 2 domain of HLA-A2.1 define a functionally relevant interaction with TAP.". Curr. Biol. 6 (7): 873–83. doi:10.1016/S0960-9822(02)00611-5. PMID 8805302.  

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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