Protein-coding gene in the species Homo sapiens
TAP2 |
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Identifiers |
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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 |
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External IDs | OMIM: 170261; MGI: 98484; HomoloGene: 37323; GeneCards: TAP2; OMA:TAP2 - orthologs |
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Gene location (Human) |
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| Chr. | Chromosome 6 (human)[1] |
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| Band | 6p21.32 | Start | 32,821,833 bp[1] |
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End | 32,838,739 bp[1] |
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Gene location (Mouse) |
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| Chr. | Chromosome 17 (mouse)[2] |
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| Band | 17 B1|17 17.98 cM | Start | 34,422,501 bp[2] |
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End | 34,435,295 bp[2] |
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RNA expression pattern |
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Bgee | Human | Mouse (ortholog) |
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Top expressed in | - appendix
- lymph node
- monocyte
- granulocyte
- duodenum
- apex of heart
- spleen
- stromal cell of endometrium
- mucosa of transverse colon
- blood
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| Top expressed in | - thymus
- granulocyte
- mesenteric lymph nodes
- lactiferous gland
- spleen
- duodenum
- subcutaneous adipose tissue
- jejunum
- bone marrow
- submandibular gland
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| More reference expression data |
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BioGPS |
| More reference expression data |
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Gene ontology |
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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 |
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Orthologs |
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Species | Human | Mouse |
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Entrez | | |
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Ensembl | ENSG00000204267 ENSG00000206299 ENSG00000228582 ENSG00000206235 ENSG00000225967
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ENSG00000237599 ENSG00000223481 ENSG00000232326 |
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UniProt | | |
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RefSeq (mRNA) | |
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NM_018833 NM_000544 NM_001290043 |
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RefSeq (protein) | |
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NP_000535 NP_001276972 NP_061313 |
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Location (UCSC) | Chr 6: 32.82 – 32.84 Mb | Chr 17: 34.42 – 34.44 Mb |
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PubMed search | [3] | [4] |
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Wikidata |
View/Edit Human | View/Edit Mouse |
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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
References
- ^ a b c ENSG00000206299, ENSG00000228582, ENSG00000206235, ENSG00000225967, ENSG00000237599, ENSG00000223481, ENSG00000232326 GRCh38: Ensembl release 89: ENSG00000204267, ENSG00000206299, ENSG00000228582, ENSG00000206235, ENSG00000225967, ENSG00000237599, ENSG00000223481, ENSG00000232326 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000024339 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ 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.
- ^ 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.
- ^ 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.
- ^ 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.
- ^ "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
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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see also ABC transporter disorders |
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