PTPRN

Receptor-type tyrosine-protein phosphatase-like N is an enzyme that in humans is encoded by the PTPRN gene.[5][6]

PTPRN
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2I1Y, 2QT7, 3N01, 3N4W, 3NG8, 3NP5
Identifiers
Aliases	PTPRN, IA-2, IA-2/PTP, IA2, ICA512, R-PTP-N, protein tyrosine phosphatase, receptor type N, protein tyrosine phosphatase receptor type N
External IDs	OMIM: 601773 MGI: 102765 HomoloGene: 48142 GeneCards: PTPRN
Gene location (Human) Chr. Chromosome 2 (human)[1] Band 2q35 Start 219,289,623 bp[1] End 219,309,648 bp[1]
Gene location (Mouse) Chr. Chromosome 1 (mouse)[2] Band 1 C4|1 38.64 cM Start 75,247,027 bp[2] End 75,264,502 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • spectrin binding • GO:0001948 protein binding • protein tyrosine phosphatase activity • transcription factor binding • ubiquitin-like protein ligase binding • GTPase binding • phosphatase activity • hydrolase activity Cellular component • axon terminus • integral component of membrane • perikaryon • endosome • Golgi apparatus • cell projection • membrane • synaptic vesicle • cell membrane • transport vesicle membrane • synapse • secretory granule • axon • cell junction • neuronal cell body • cytoplasmic vesicle • cell nucleus Biological process • luteinization • cytokine-mediated signaling pathway • response to reactive oxygen species • insulin secretion • response to glucose • response to estrogen • response to insulin • response to cAMP • dense core granule maturation • insulin secretion involved in cellular response to glucose stimulus • transcription, DNA-templated • regulation of transcription, DNA-templated • positive regulation of transcription from RNA polymerase II promoter • positive regulation of type B pancreatic cell proliferation • peptidyl-tyrosine dephosphorylation • protein dephosphorylation • dephosphorylation Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	5798	19275
Ensembl	ENSG00000054356	ENSMUSG00000026204
UniProt	Q16849	Q60673
RefSeq (mRNA)	NM_001199763 NM_001199764 NM_002846	NM_008985 NM_001359281
RefSeq (protein)	NP_001186692 NP_001186693 NP_002837	n/a
Location (UCSC)	Chr 2: 219.29 – 219.31 Mb	Chr 1: 75.25 – 75.26 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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.[6]

Interactions

PTPRN has been shown to interact with SPTBN4.[7]

References

1. GRCh38: Ensembl release 89: ENSG00000054356 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000026204 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. 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.
6. "Entrez Gene: PTPRN protein tyrosine phosphatase, receptor type, N".
7. 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

• 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. doi:10.1002/j.1460-2075.1996.tb00564.x. 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.