PTPN22

Protein tyrosine phosphatase, non-receptor type 22 (lymphoid), also known as PTPN22, is a human gene.cite web | title = Entrez Gene: PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=26191| accessdate = ]

PBB_Summary
section_title =
summary_text = 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.cite web | title = Entrez Gene: PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=26191| accessdate = ]

Disease Association

The common 1858T(rs2476601) nonsynonymous single nucleotide polymorphism located in the PTPN22 gene has been associated with a range of autoimmune disorders, including Type 1 Diabetes, rheumatoid arthritis and Graves' disease.

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Gregersen PK |title=Pathways to gene identification in rheumatoid arthritis: PTPN22 and beyond. |journal=Immunol. Rev. |volume=204 |issue= |pages= 74–86 |year= 2005 |pmid= 15790351 |doi= 10.1111/j.0105-2896.2005.00243.x
*cite journal | author=Brand O, Gough S, Heward J |title=HLA , CTLA-4 and PTPN22 : the shared genetic master-key to autoimmunity? |journal=Expert reviews in molecular medicine |volume=7 |issue= 23 |pages= 1–15 |year= 2007 |pmid= 16229750 |doi= 10.1017/S1462399405009981
*cite journal | author=Bottini N, Vang T, Cucca F, Mustelin T |title=Role of PTPN22 in type 1 diabetes and other autoimmune diseases. |journal=Semin. Immunol. |volume=18 |issue= 4 |pages= 207–13 |year= 2007 |pmid= 16697661 |doi= 10.1016/j.smim.2006.03.008
*cite journal | author=Matthews RJ, Bowne DB, Flores E, Thomas ML |title=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. |journal=Mol. Cell. Biol. |volume=12 |issue= 5 |pages= 2396–405 |year= 1992 |pmid= 1373816 |doi=
*cite journal | author=Gregorieff A, Cloutier JF, Veillette A |title=Sequence requirements for association of protein-tyrosine phosphatase PEP with the Src homology 3 domain of inhibitory tyrosine protein kinase p50(csk). |journal=J. Biol. Chem. |volume=273 |issue= 21 |pages= 13217–22 |year= 1998 |pmid= 9582365 |doi=
*cite journal | author=Cohen S, Dadi H, Shaoul E, "et al." |title=Cloning and characterization of a lymphoid-specific, inducible human protein tyrosine phosphatase, Lyp. |journal=Blood |volume=93 |issue= 6 |pages= 2013–24 |year= 1999 |pmid= 10068674 |doi=
*cite journal | author=Gjörloff-Wingren A, Saxena M, Han S, "et al." |title=Subcellular localization of intracellular protein tyrosine phosphatases in T cells. |journal=Eur. J. Immunol. |volume=30 |issue= 8 |pages= 2412–21 |year= 2000 |pmid= 10940933 |doi=
*cite journal | author=Hill RJ, Zozulya S, Lu YL, "et al." |title=The lymphoid protein tyrosine phosphatase Lyp interacts with the adaptor molecule Grb2 and functions as a negative regulator of T-cell activation. |journal=Exp. Hematol. |volume=30 |issue= 3 |pages= 237–44 |year= 2002 |pmid= 11882361 |doi=
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Chien W, Tidow N, Williamson EA, "et al." |title=Characterization of a myeloid tyrosine phosphatase, Lyp, and its role in the Bcr-Abl signal transduction pathway. |journal=J. Biol. Chem. |volume=278 |issue= 30 |pages= 27413–20 |year= 2003 |pmid= 12764153 |doi= 10.1074/jbc.M304575200
*cite journal | author=Bottini N, Musumeci L, Alonso A, "et al." |title=A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes. |journal=Nat. Genet. |volume=36 |issue= 4 |pages= 337–8 |year= 2004 |pmid= 15004560 |doi= 10.1038/ng1323
*cite journal | author=Begovich AB, Carlton VE, Honigberg LA, "et al." |title=A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis. |journal=Am. J. Hum. Genet. |volume=75 |issue= 2 |pages= 330–7 |year= 2004 |pmid= 15208781 |doi= 10.1086/422827
*cite journal | author=Kyogoku C, Langefeld CD, Ortmann WA, "et al." |title=Genetic association of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE. |journal=Am. J. Hum. Genet. |volume=75 |issue= 3 |pages= 504–7 |year= 2004 |pmid= 15273934 |doi= 10.1086/423790
*cite journal | author=Smyth D, Cooper JD, Collins JE, "et al." |title=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. |journal=Diabetes |volume=53 |issue= 11 |pages= 3020–3 |year= 2005 |pmid= 15504986 |doi=
*cite journal | author=Ladner MB, Bottini N, Valdes AM, Noble JA |title=Association of the single nucleotide polymorphism C1858T of the PTPN22 gene with type 1 diabetes. |journal=Hum. Immunol. |volume=66 |issue= 1 |pages= 60–4 |year= 2005 |pmid= 15620463 |doi= 10.1016/j.humimm.2004.09.016
*cite journal | author=Orozco G, Sánchez E, González-Gay MA, "et al." |title=Association of a functional single-nucleotide polymorphism of PTPN22, encoding lymphoid protein phosphatase, with rheumatoid arthritis and systemic lupus erythematosus. |journal=Arthritis Rheum. |volume=52 |issue= 1 |pages= 219–24 |year= 2005 |pmid= 15641066 |doi= 10.1002/art.20771
*cite journal | author=Steer S, Lad B, Grumley JA, "et al." |title=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. |journal=Arthritis Rheum. |volume=52 |issue= 1 |pages= 358–60 |year= 2005 |pmid= 15641088 |doi= 10.1002/art.20737
*cite journal | author=Zheng W, She JX |title=Genetic association between a lymphoid tyrosine phosphatase (PTPN22) and type 1 diabetes. |journal=Diabetes |volume=54 |issue= 3 |pages= 906–8 |year= 2005 |pmid= 15734872 |doi=
*cite journal | author=Zhernakova A, Eerligh P, Wijmenga C, "et al." |title=Differential association of the PTPN22 coding variant with autoimmune diseases in a Dutch population. |journal=Genes Immun. |volume=6 |issue= 6 |pages= 459–61 |year= 2005 |pmid= 15875058 |doi= 10.1038/sj.gene.6364220

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