PTPRN

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)
End	219,309,648 bp
Gene location (Mouse)
Chr.	Chromosome 1 (mouse)
End	75,264,502 bp
RNA expression pattern
	Top expressed in
	anterior pituitary; ; pituitary gland; ; hypothalamus; ; superior frontal gyrus; ; islet of Langerhans; ; nucleus accumbens;
	More reference expression data
	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; plasma membrane; transport vesicle membrane; synapse; secretory granule; axon; cell junction; neuronal cell body; GO:0016023 cytoplasmic vesicle; 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 by RNA polymerase II; positive regulation of type B pancreatic cell proliferation; peptidyl-tyrosine dephosphorylation; protein dephosphorylation; dephosphorylation;
	Sources:Amigo / QuickGO
Orthologs
	5798
	19275
	ENSG00000054356
	ENSMUSG00000026204
	Q16849
	Q60673
	NM_001199763; NM_001199764; NM_002846
	NM_008985; NM_001359281
	NP_001186692; NP_001186693; NP_002837
	n/a
	Wikidata
View/Edit Human	View/Edit Mouse

Receptor-type tyrosine-protein phosphatase-like N, also called "IA-2", is an enzyme that in humans is encoded by the PTPRN gene.^[5]^[6]

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[]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000054356 - Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000026204 - Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.
^ ^a ^b "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[]

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. doi:10.1016/s0753-3322(01)90014-9. 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. S2CID 45659598.
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. S2CID 44799912.
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.

This article on a gene on human chromosome 2 is a stub. You can help Wikipedia by .

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000054356 - Ensembl, May 2017

[refGRCm38Ensembl-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.

[pmid8024693-5] 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.

[entrez-6] "Entrez Gene: PTPRN protein tyrosine phosphatase, receptor type, N".

[pmid11086001-7] 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.

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