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PTPRN2

From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
PTPRN2
Available structures
PDBOrtholog search:PDBeRCSB
List of PDB id codes

2QEP,4HTI,4HTJ

Identifiers
AliasesPTPRN2, IA-2beta, IAR, ICAAR, PTPRP, R-PTP-N2, protein tyrosine phosphatase, receptor type N2, protein tyrosine phosphatase receptor type N2
External IDsOMIM:601698;MGI:107418;HomoloGene:2134;GeneCards:PTPRN2;OMA:PTPRN2 - orthologs
Gene location (Human)
Chromosome 7 (human)
Chr.Chromosome 7 (human)[1]
Chromosome 7 (human)
Genomic location for PTPRN2
Genomic location for PTPRN2
Band7q36.3Start157,539,056bp[1]
End158,587,823bp[1]
Gene location (Mouse)
Chromosome 12 (mouse)
Chr.Chromosome 12 (mouse)[2]
Chromosome 12 (mouse)
Genomic location for PTPRN2
Genomic location for PTPRN2
Band12 F2|12 62.65 cMStart116,449,340bp[2]
End117,240,469bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • lateral nuclear group of thalamus

  • middle temporal gyrus

  • external globus pallidus

  • Brodmann area 23

  • entorhinal cortex

  • orbitofrontal cortex

  • frontal pole

  • superior frontal gyrus

  • Brodmann area 46

  • postcentral gyrus
Top expressed in
  • dentate gyrus of hippocampal formation granule cell

  • superior frontal gyrus

  • primary visual cortex

  • primordial pancreas

  • neural layer of retina

  • cerebellar cortex

  • endocrine pancreas

  • islet of Langerhans

  • zygote

  • morula
More reference expression data
BioGPS




More reference expression data
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo /QuickGO
Orthologs
SpeciesHumanMouse
Entrez

5799

19276

Ensembl

ENSG00000155093
ENSG00000282185

ENSMUSG00000056553

UniProt

Q92932

P80560

RefSeq (mRNA)

NM_001308267
NM_001308268
NM_002847
NM_130842
NM_130843

NM_011215

RefSeq (protein)

NP_001295196
NP_001295197
NP_002838
NP_570857
NP_570858

NP_035345

Location (UCSC)Chr 7: 157.54 – 158.59 MbChr 12: 116.45 – 117.24 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Receptor-type tyrosine-protein phosphatase N2 (R-PTP-N2) also known asislet cell autoantigen-related protein (ICAAR) andphogrin is anenzyme that in humans is encoded by thePTPRN2gene.[5][6][7]PTPRN and PTPRN2 (this gene) are both found to be majorautoantigens associated withinsulin-dependent diabetes mellitus.[7]

Function

[edit]

Due to a close similarity in the gene sequences, theprotein encoded by thisgene has traditionally been considered a member of theprotein tyrosine phosphatase (PTP) family. PTPs are known to besignaling molecules that regulate a variety of cellular processes includingcell growth,differentiation,mitotic cycle, andoncogenic transformation. However, recent research has shown that the PTPRN2 mousehomolog, known as phogrin,dephosphorylates the lipidphosphatidylinositol rather thantyrosine. Specifically, phogrin was shown to act uponphosphatidylinositol 3-phosphate andPhosphatidylinositol 4,5-diphosphate, whereas it has never been observed acting upon tyrosine.[8] PTPRN2 should, therefore, be more accurately considered a PIPase rather than aPTPase.Phosphorylated forms ofphosphatidylinositol (PI) are calledphosphoinositides and play important roles inlipid signaling,cell signaling andmembrane trafficking.

The protein produced by PTPRN2 possesses anextracellular region, a singletransmembrane region, and a singleintracellularcatalytic domain, and thus represents areceptor-type PTP. The catalytic domain of this PTP is most closely related toPTPRN, also known as IA-2.[7]

Gene

[edit]

Threealternatively splicedtranscript variants of this gene, which encode distinct proteins, have been reported.[7]

Interactions

[edit]

PTPRN2 has been shown tointeract with:CKAP5,[9]SPTBN4,[10] andUBQLN4.[11]

Clinical significance

[edit]

R-PTP-N2 functions as anautoantigen indiabetes mellitus type 1.[12][13]

References

[edit]
  1. ^abcENSG00000282185 GRCh38: Ensembl release 89: ENSG00000155093, ENSG00000282185Ensembl, May 2017
  2. ^abcGRCm38: Ensembl release 89: ENSMUSG00000056553Ensembl, 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. ^Smith PD, Barker KT, Wang J, Lu YJ, Shipley J, Crompton MR (Jan 1997). "ICAAR, a novel member of a new family of transmembrane, tyrosine phosphatase-like proteins".Biochem Biophys Res Commun.229 (2):402–11.doi:10.1006/bbrc.1996.1817.PMID 8954911.
  6. ^Li Q, Borovitskaya AE, DeSilva MG, Wasserfall C, Maclaren NK, Notkins AL, Lan MS (Sep 1997). "Autoantigens in insulin-dependent diabetes mellitus: molecular cloning and characterization of human IA-2 beta".Proc Assoc Am Physicians.109 (4):429–39.PMID 9220540.
  7. ^abcd"Entrez Gene: PTPRN2 protein tyrosine phosphatase, receptor type, N polypeptide 2".
  8. ^Caromile LA, Oganesian A, Coats SA, Seifert RA, Bowen-Pope DF (April 2010)."The neurosecretory vesicle protein phogrin functions as a phosphatidylinositol phosphatase to regulate insulin secretion".J. Biol. Chem.285 (14):10487–96.doi:10.1074/jbc.M109.066563.PMC 2856256.PMID 20097759.
  9. ^Nakayama M, Kikuno R, Ohara O (November 2002)."Protein-protein interactions between large proteins: two-hybrid screening using a functionally classified library composed of long cDNAs".Genome Res.12 (11):1773–84.doi:10.1101/gr.406902.PMC 187542.PMID 12421765.
  10. ^Berghs S, Aggujaro D, Dirkx R, Maksimova E, Stabach P, Hermel JM, Zhang JP, Philbrick W, Slepnev V, Ort T, Solimena M (November 2000)."betaIV 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.
  11. ^Lim J, Hao T, Shaw C, Patel AJ, Szabó G, Rual JF, Fisk CJ, Li N, Smolyar A, Hill DE, Barabási AL, Vidal M, Zoghbi HY (May 2006)."A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration".Cell.125 (4):801–14.doi:10.1016/j.cell.2006.03.032.PMID 16713569.S2CID 13709685.
  12. ^Lu J, Li Q, Xie H, Chen ZJ, Borovitskaya AE, Maclaren NK, Notkins AL, Lan MS (March 1996)."Identification of a second transmembrane protein tyrosine phosphatase, IA-2beta, as an autoantigen in insulin-dependent diabetes mellitus: precursor of the 37-kDa tryptic fragment".Proc. Natl. Acad. Sci. U.S.A.93 (6):2307–11.Bibcode:1996PNAS...93.2307L.doi:10.1073/pnas.93.6.2307.PMC 39791.PMID 8637868.
  13. ^Pietropaolo M, Hutton JC, Eisenbarth GS (February 1997). "Protein tyrosine phosphatase-like proteins: link with IDDM".Diabetes Care.20 (2):208–14.doi:10.2337/diacare.20.2.208.PMID 9118776.S2CID 5392803.

Further reading

[edit]
Class I
Classical PTPs
Receptor type PTPs
Non receptor type PTPs
VH1-like or
dual specific
phosphatases

(DSPs)
MAPK phosphatases (MKPs)
Slingshots
PRLs
CDC14s
Atypical DSPs
Phosphatase and tensin
homologs (PTENs)
Myotubularins
Class II
Class III
Class IV


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