PTPN22

From Wikipedia, the free encyclopedia

Protein tyrosine phosphatase, non-receptor type 22 (lymphoid)

PDB rendering based on 2p6x.

Available structures: 2p6x

Identifiers

Symbol(s)

PTPN22; LYP; PEP; Lyp1; Lyp2; PTPN8

External IDs

OMIM: 600716 MGI: 107170 HomoloGene: 7498

Gene ontology
Molecular Function:	• protein tyrosine phosphatase activity • hydrolase activity
Biological Process:	• protein amino acid dephosphorylation • signal transduction • multicellular organismal development • T cell differentiation • T cell receptor signaling pathway

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_012411 (mRNA)
NP_036543 (protein)

NM_008979 (mRNA)
NP_033005 (protein)

Location

Chr 1: 114.09 - 114.22 Mb

Chr 3: 103.99 - 104.04 Mb

Pubmed search

[1]

[2]

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]

[edit] References

^ ^a ^b Entrez Gene: PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid).

[edit] 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.