TAP2

TAP2
Identifiers
Aliases	TAP2 , ABC18, ABCB3, APT2, D6S217E, PSF-2, PSF2, RING11, transporter 2, ATP-binding cassette, sub-family B (MDR/TAP), transporter 2, ATP binding cassette subfamily B member
External IDs	OMIM: 170261; MGI: 98484; HomoloGene: 37323; GeneCards: TAP2; OMA:TAP2 - orthologs
Gene location (Human) Chr. Chromosome 6 (human) [1] Band 6p21.32 Start 32,821,833 bp [1] End 32,838,739 bp [1]
Gene location (Mouse) Chr. Chromosome 17 (mouse) [2] Band 17 B1|17 17.98 cM Start 34,422,501 bp [2] End 34,435,295 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in appendix lymph node monocyte granulocyte duodenum apex of heart spleen stromal cell of endometrium mucosa of transverse colon blood Top expressed in thymus granulocyte mesenteric lymph nodes lactiferous gland spleen duodenum subcutaneous adipose tissue jejunum bone marrow submandibular gland More reference expression data BioGPS More reference expression data
Gene ontology Molecular function MHC protein binding ATPase-coupled transmembrane transporter activity nucleotide binding ABC-type peptide transporter activity transporter activity tapasin binding MHC class Ib protein binding ABC-type peptide antigen transporter activity ATPase activity protein binding TAP1 binding ATP binding peptide transmembrane transporter activity MHC class I protein binding TAP2 binding Cellular component TAP complex endoplasmic reticulum membrane membrane integral component of endoplasmic reticulum membrane integral component of membrane endoplasmic reticulum nuclear speck phagocytic vesicle membrane endoplasmic reticulum-Golgi intermediate compartment membrane MHC class I peptide loading complex Biological process adaptive immune response immune system process antigen processing and presentation of peptide antigen via MHC class I antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent transmembrane transport protein transport peptide transport viral process cytosol to endoplasmic reticulum transport antigen processing and presentation of endogenous peptide antigen via MHC class I peptide antigen transport antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent vesicle fusion with endoplasmic reticulum-Golgi intermediate compartment (ERGIC) membrane transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 6891 21355 Ensembl ENSG00000204267 ENSG00000206299 ENSG00000228582 ENSG00000206235 ENSG00000225967 ENSG00000237599 ENSG00000223481 ENSG00000232326 ENSMUSG00000024339 UniProt Q03519 P36371 RefSeq (mRNA) NM_018833 NM_000544 NM_001290043 NM_011530 RefSeq (protein) NP_000535 NP_001276972 NP_061313 NP_035660 Location (UCSC) Chr 6: 32.82 – 32.84 Mb Chr 17: 34.42 – 34.44 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

TAP2 is a gene in humans that encodes the protein Antigen 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]

See also

• ATP-binding cassette transporter

References

1. ENSG00000206299, ENSG00000228582, ENSG00000206235, ENSG00000225967, ENSG00000237599, ENSG00000223481, ENSG00000232326 GRCh38: Ensembl release 89: ENSG00000204267, ENSG00000206299, ENSG00000228582, ENSG00000206235, ENSG00000225967, ENSG00000237599, ENSG00000223481, ENSG00000232326 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000024339 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Bodmer JG, Marsh SG, Albert ED, Bodmer WF, Dupont B, Erlich HA, Mach B, Mayr WR, Parham P, Sasazuki T (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. doi: 10.1111/j.1399-0039.1992.tb01932.x . PMID   1529427.
6. 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. Bibcode:1991PNAS...8810094B. doi: 10.1073/pnas.88.22.10094 . PMC   52874 . PMID   1946428.
7. 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. S2CID   21059468.
8. 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. PMID   24365204.
9. "Entrez Gene: TAP2 transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)".

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, 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. PMID   1453454.
• Kelly A, Powis SH, Kerr LA, Mockridge I, Elliott T, Bastin J, Uchanska-Ziegler B, Ziegler A, Trowsdale J, Townsend A (1992). "Assembly and function of the two ABC transporter proteins encoded in the human major histocompatibility complex". Nature. 355 (6361): 641–4. Bibcode:1992Natur.355..641K. doi: 10.1038/355641a0 . PMID   1538751. S2CID   32569414.
• Colonna M, Bresnahan M, Bahram S, Strominger JL, Spies T (1992). "Allelic variants of the human putative peptide transporter involved in antigen processing". Proc. Natl. Acad. Sci. U.S.A. 89 (9): 3932–6. Bibcode:1992PNAS...89.3932C. doi: 10.1073/pnas.89.9.3932 . PMC   525605 . PMID   1570316.
• Powis SH, Mockridge I, Kelly A, Kerr LA, Glynne R, Gileadi U, Beck S, Trowsdale J (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. Bibcode:1992PNAS...89.1463P. doi: 10.1073/pnas.89.4.1463 . PMC   48471 . PMID   1741401.
• 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. PMID   2259383. S2CID   4279033.
• 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. 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. PMC   1415039 . 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, 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. PMID   8428770. S2CID   35123181.
• 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. PMID   8458375. S2CID   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 (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, Sempé P, Djaballah H, Yang Y, Peterson PA, Früh K, Tampé R (1996). "Molecular mechanism and species specificity of TAP inhibition by herpes simplex virus ICP47". EMBO J. 15 (13): 3247–55. doi:10.1002/j.1460-2075.1996.tb00689.x. PMC   451885 . PMID   8670825.
• 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. 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

• TAP2+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)

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