
Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
PTPRN
Introduction
Receptor-type tyrosine-protein phosphatase-like N is an enzyme that in humans is encoded by the PTPRN gene.[1][2]
Function
Function
The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family and PTPRN subfamily. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and a single catalytic domain, and thus represents a receptor-type PTP. This PTP was found to be an autoantigen that is reactive with insulin-dependent diabetes mellitus (IDDM) patient sera, and thus may be a potential target of autoimmunity in diabetes mellitus.[2]
References
References
- ↑ Lan MS, Lu J, Goto Y, Notkins AL (August 1994). “Molecular cloning and identification of a receptor-type protein tyrosine phosphatase, IA-2, from human insulinoma”. DNA Cell Biol. 13 (5): 505–14. doi:10.1089/dna.1994.13.505. PMID 8024693.
- ↑ 2.0 2.1 “Entrez Gene: PTPRN protein tyrosine phosphatase, receptor type, N”.
- ↑ Berghs S, Aggujaro D, Dirkx R, Maksimova E, Stabach P, Hermel JM, Zhang JP, Philbrick W, Slepnev V, Ort T, Solimena M (November 2000). “βiv Spectrin, a New Spectrin Localized at Axon Initial Segments and Nodes of Ranvier in the Central and Peripheral Nervous System”. J. Cell Biol. 151 (5): 985–1002. doi:10.1083/jcb.151.5.985. PMC 2174349. PMID 11086001.
Further reading
Further reading
- Rabin DU, Pleasic SM, Shapiro JA, Yoo-Warren H, Oles J, Hicks JM, Goldstein DE, Rae PM (1994). “Islet cell antigen 512 is a diabetes-specific islet autoantigen related to protein tyrosine phosphatases”. J. Immunol. 152 (6): 3183–8. PMID 8144912.
- Solimena M, Dirkx R, Hermel JM, Pleasic-Williams S, Shapiro JA, Caron L, Rabin DU (1996). “ICA 512, an autoantigen of type I diabetes, is an intrinsic membrane protein of neurosecretory granules”. EMBO J. 15 (9): 2102–14. PMC 450132. PMID 8641276.
- van den Maagdenberg AM, Olde Weghuis D, Rijss J, van de Wetering RA, Wieringa B, Geurts van Kessel A, Hendriks WJ (1996). “Assignment of the human gene for receptor-type protein tyrosine phosphatase IA-2 (PTPRN) to chromosome region 2q35 –> q36.1 and identification of an intragenic genetic marker”. Cytogenet. Cell Genet. 73 (1–2): 145–8. doi:10.1159/000134327. PMID 8646884.
- Cui L, Yu WP, DeAizpurua HJ, Schmidli RS, Pallen CJ (1996). “Cloning and characterization of islet cell antigen-related protein-tyrosine phosphatase (PTP), a novel receptor-like PTP and autoantigen in insulin-dependent diabetes”. J. Biol. Chem. 271 (40): 24817–23. doi:10.1074/jbc.271.40.24817. PMID 8798755.
- Xie J, Zhang B, Lan MS, Notkins AL (1999). “Genomic structure and promoter sequence of the insulin-dependent diabetes mellitus autoantigen, IA-2 (PTPRN)”. Genomics. 54 (2): 338–43. doi:10.1006/geno.1998.5583. PMID 9828138.
- Ort T, Maksimova E, Dirkx R, Kachinsky AM, Berghs S, Froehner SC, Solimena M (2001). “The receptor tyrosine phosphatase-like protein ICA512 binds the PDZ domains of beta2-syntrophin and nNOS in pancreatic beta-cells”. Eur. J. Cell Biol. 79 (9): 621–30. doi:10.1078/0171-9335-00095. PMID 11043403.
- Park YS, Kawasaki E, Kelemen K, Yu L, Schiller MR, Rewers M, Mizuta M, Eisenbarth GS, Hutton JC (2001). “Humoral autoreactivity to an alternatively spliced variant of ICA512/IA-2 in Type I diabetes”. Diabetologia. 43 (10): 1293–301. doi:10.1007/s001250051525. PMID 11079748.
- Berghs S, Aggujaro D, Dirkx R, Maksimova E, Stabach P, Hermel JM, Zhang JP, Philbrick W, Slepnev V, Ort T, Solimena M (2001). “βiv Spectrin, a New Spectrin Localized at Axon Initial Segments and Nodes of Ranvier in the Central and Peripheral Nervous System”. J. Cell Biol. 151 (5): 985–1002. doi:10.1083/jcb.151.5.985. PMC 2174349. PMID 11086001.
- Diez J, Park Y, Zeller M, Brown D, Garza D, Ricordi C, Hutton J, Eisenbarth GS, Pugliese A (2001). “Differential splicing of the IA-2 mRNA in pancreas and lymphoid organs as a permissive genetic mechanism for autoimmunity against the IA-2 type 1 diabetes autoantigen”. Diabetes. 50 (4): 895–900. doi:10.2337/diabetes.50.4.895. PMID 11289059.
- Ort T, Voronov S, Guo J, Zawalich K, Froehner SC, Zawalich W, Solimena M (2001). “Dephosphorylation of β2-syntrophin and Ca2+/µ-calpain-mediated cleavage of ICA512 upon stimulation of insulin secretion”. EMBO J. 20 (15): 4013–23. doi:10.1093/emboj/20.15.4013. PMC 149140. PMID 11483505.
- Mikulecký M, Michalková D (2002). “Secular and seasonal cycling of IA2-ab autoantibody in Slovak diabetic children”. Biomed. Pharmacother. 55 Suppl 1: 106s–109s. PMID 11774856.
- Miao D, Yu L, Tiberti C, Cuthbertson DD, Rewers M, di Mario U, Eisenbarth GS, Dotta F (2002). “ICA512(IA-2) epitope specific assays distinguish transient from diabetes associated autoantibodies”. J. Autoimmun. 18 (2): 191–6. doi:10.1006/jaut.2001.0577. PMID 11908951.
- Kawasaki E, Yamaguchi H, Hattori H, Egashira T, Eguchi K (2002). “Autoantibodies to IA-2 in type 1 diabetes: measurements with a new enzyme-linked immunosorbent assay”. Ann. N. Y. Acad. Sci. 958: 241–6. doi:10.1111/j.1749-6632.2002.tb02978.x. PMID 12021115.
- Sanjeevi CB, Das AK, Shtauvere-Brameus A (2002). “BCG vaccination and GAD65 and IA-2 autoantibodies in autoimmune diabetes in southern India”. Ann. N. Y. Acad. Sci. 958: 293–6. doi:10.1111/j.1749-6632.2002.tb02990.x. PMID 12021127.
- Bearzatto M, Lampasona V, Belloni C, Bonifacio E (2004). “Fine mapping of diabetes-associated IA-2 specific autoantibodies”. J. Autoimmun. 21 (4): 377–82. doi:10.1016/j.jaut.2003.08.002. PMID 14624760.
- Trajkovski M, Mziaut H, Altkrüger A, Ouwendijk J, Knoch KP, Müller S, Solimena M (2005). “Nuclear translocation of an ICA512 cytosolic fragment couples granule exocytosis and insulin expression in {beta}-cells”. J. Cell Biol. 167 (6): 1063–74. doi:10.1083/jcb.200408172. PMC 2172607. PMID 15596545.
- Ota T, Takamura T, Nagai Y, Bando Y, Usuda R (2005). “Significance of IA-2 antibody in Japanese type 1 diabetes: its association with GAD antibody”. Diabetes Res. Clin. Pract. 67 (1): 63–9. doi:10.1016/j.diabres.2004.05.004. PMID 15620435.
