PTPN22
| Protein tyrosine phosphatase, non-receptor type 22 (lymphoid) | |||||||||||||
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File:PBB Protein PTPN22 image.jpg PDB rendering based on 2p6x. | |||||||||||||
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| Identifiers | |||||||||||||
| Symbols | PTPN22 ; LYP; PEP; Lyp1; Lyp2; PTPN8 | ||||||||||||
| External IDs | Template:OMIM5 Template:MGI HomoloGene: 7498 | ||||||||||||
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| RNA expression pattern | |||||||||||||
| File:PBB GE PTPN22 206060 s at tn.png | |||||||||||||
| File:PBB GE PTPN22 208010 s at tn.png | |||||||||||||
| File:PBB GE PTPN22 208011 at tn.png | |||||||||||||
| More reference expression data | |||||||||||||
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| Template:GNF Ortholog box | |||||||||||||
| Species | Human | Mouse | |||||||||||
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| RefSeq (mRNA) | n/a | n/a | |||||||||||
| RefSeq (protein) | n/a | n/a | |||||||||||
| Location (UCSC) | n/a | n/a | |||||||||||
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Protein tyrosine phosphatase, non-receptor type 22 (lymphoid), also known as PTPN22, is a human gene.[1]
This gene encodes a protein tyrosine phosphatase which is expressed primarily in lymphoid tissues. This enzyme associates with the molecular adapter protein CBL and may be involved in regulating CBL function in the T-cell receptor signaling pathway. Alternative splicing of this gene results in two transcript variants encoding distinct isoforms.[1]
References
Further reading
- Gregersen PK (2005). "Pathways to gene identification in rheumatoid arthritis: PTPN22 and beyond". Immunol. Rev. 204: 74–86. doi:10.1111/j.0105-2896.2005.00243.x. PMID 15790351.
- Brand O, Gough S, Heward J (2007). "HLA , CTLA-4 and PTPN22 : the shared genetic master-key to autoimmunity?". Expert reviews in molecular medicine. 7 (23): 1–15. doi:10.1017/S1462399405009981. PMID 16229750.
- Bottini N, Vang T, Cucca F, Mustelin T (2007). "Role of PTPN22 in type 1 diabetes and other autoimmune diseases". Semin. Immunol. 18 (4): 207–13. doi:10.1016/j.smim.2006.03.008. PMID 16697661.
- Matthews RJ, Bowne DB, Flores E, Thomas ML (1992). "Characterization of hematopoietic intracellular protein tyrosine phosphatases: description of a phosphatase containing an SH2 domain and another enriched in proline-, glutamic acid-, serine-, and threonine-rich sequences". Mol. Cell. Biol. 12 (5): 2396–405. PMID 1373816.
- Gregorieff A, Cloutier JF, Veillette A (1998). "Sequence requirements for association of protein-tyrosine phosphatase PEP with the Src homology 3 domain of inhibitory tyrosine protein kinase p50(csk)". J. Biol. Chem. 273 (21): 13217–22. PMID 9582365.
- Cohen S, Dadi H, Shaoul E; et al. (1999). "Cloning and characterization of a lymphoid-specific, inducible human protein tyrosine phosphatase, Lyp". Blood. 93 (6): 2013–24. PMID 10068674.
- Gjörloff-Wingren A, Saxena M, Han S; et al. (2000). "Subcellular localization of intracellular protein tyrosine phosphatases in T cells". Eur. J. Immunol. 30 (8): 2412–21. PMID 10940933.
- Hill RJ, Zozulya S, Lu YL; et al. (2002). "The lymphoid protein tyrosine phosphatase Lyp interacts with the adaptor molecule Grb2 and functions as a negative regulator of T-cell activation". Exp. Hematol. 30 (3): 237–44. PMID 11882361.
- Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
- Chien W, Tidow N, Williamson EA; et al. (2003). "Characterization of a myeloid tyrosine phosphatase, Lyp, and its role in the Bcr-Abl signal transduction pathway". J. Biol. Chem. 278 (30): 27413–20. doi:10.1074/jbc.M304575200. PMID 12764153.
- Bottini N, Musumeci L, Alonso A; et al. (2004). "A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes". Nat. Genet. 36 (4): 337–8. doi:10.1038/ng1323. PMID 15004560.
- Begovich AB, Carlton VE, Honigberg LA; et al. (2004). "A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis". Am. J. Hum. Genet. 75 (2): 330–7. doi:10.1086/422827. PMID 15208781.
- Kyogoku C, Langefeld CD, Ortmann WA; et al. (2004). "Genetic association of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE". Am. J. Hum. Genet. 75 (3): 504–7. doi:10.1086/423790. PMID 15273934.
- Smyth D, Cooper JD, Collins JE; et al. (2005). "Replication of an association between the lymphoid tyrosine phosphatase locus (LYP/PTPN22) with type 1 diabetes, and evidence for its role as a general autoimmunity locus". Diabetes. 53 (11): 3020–3. PMID 15504986.
- Ladner MB, Bottini N, Valdes AM, Noble JA (2005). "Association of the single nucleotide polymorphism C1858T of the PTPN22 gene with type 1 diabetes". Hum. Immunol. 66 (1): 60–4. doi:10.1016/j.humimm.2004.09.016. PMID 15620463.
- Orozco G, Sánchez E, González-Gay MA; et al. (2005). "Association of a functional single-nucleotide polymorphism of PTPN22, encoding lymphoid protein phosphatase, with rheumatoid arthritis and systemic lupus erythematosus". Arthritis Rheum. 52 (1): 219–24. doi:10.1002/art.20771. PMID 15641066.
- Steer S, Lad B, Grumley JA; et al. (2005). "Association of R602W in a protein tyrosine phosphatase gene with a high risk of rheumatoid arthritis in a British population: evidence for an early onset/disease severity effect". Arthritis Rheum. 52 (1): 358–60. doi:10.1002/art.20737. PMID 15641088.
- Zheng W, She JX (2005). "Genetic association between a lymphoid tyrosine phosphatase (PTPN22) and type 1 diabetes". Diabetes. 54 (3): 906–8. PMID 15734872.
- Zhernakova A, Eerligh P, Wijmenga C; et al. (2005). "Differential association of the PTPN22 coding variant with autoimmune diseases in a Dutch population". Genes Immun. 6 (6): 459–61. doi:10.1038/sj.gene.6364220. PMID 15875058.
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