• Gene id: 5799

Gene Summary

• Gene Symbol: PTPRN2   Gene   UCSC   Ensembl
• Aliases: IA-2beta, IAR, ICAAR, PTPRP, R-PTP-N2
• Gene name: protein tyrosine phosphatase receptor type N2
• Alternate names: receptor-type tyrosine-protein phosphatase N2, IAR/receptor-like protein-tyrosine phosphatase, islet cell autoantigen-related protein, phogrin, protein tyrosine phosphatase receptor pi, protein tyrosine phosphatase, receptor type, N polypeptide 2, tyrosine phos,
• Gene location: 7q36.3 (158587822: 157539051)     Exons: 29     NC_000007.14
• Gene summary(Entrez): This gene encodes a protein with sequence similarity to receptor-like protein tyrosine phosphatases. However, tyrosine phosphatase activity has not been experimentally validated for this protein. Studies of the rat ortholog suggest that the encoded protei
• OMIM: 601698

Protein Summary

• Protein general information: Q92932  
  • Name: Receptor type tyrosine protein phosphatase N2 (R PTP N2) (EC 3.1.3. ) (EC 3.1.3.48) (Islet cell autoantigen related protein) (IAR) (ICAAR) (Phogrin) [Cleaved into: IA 2beta60]
  • Length: 1015  
  • Mass: 111271
  • Tissue specificity: Highest levels in brain and pancreas (PubMed
• Sequence:

  MGPPLPLLLLLLLLLPPRVLPAAPSSVPRGRQLPGRLGCLLEEGLCGASEACVNDGVFGRCQKVPAMDFYRYEVS
  PVALQRLRVALQKLSGTGFTWQDDYTQYVMDQELADLPKTYLRRPEASSPARPSKHSVGSERRYSREGGAALANA
  LRRHLPFLEALSQAPASDVLARTHTAQDRPPAEGDDRFSESILTYVAHTSALTYPPGSRTQLREDLLPRTLGQLQ
  PDELSPKVDSGVDRHHLMAALSAYAAQRPPAPPGEGSLEPQYLLRAPSRMPRPLLAPAAPQKWPSPLGDSEDPSS
  TGDGARIHTLLKDLQRQPAEVRGLSGLELDGMAELMAGLMQGVDHGVARGSPGRAALGESGEQADGPKATLRGDS
  FPDDGVQDDDDRLYQEVHRLSATLGGLLQDHGSRLLPGALPFARPLDMERKKSEHPESSLSSEEETAGVENVKSQ
  TYSKDLLGQQPHSEPGAAAFGELQNQMPGPSKEEQSLPAGAQEALSDGLQLEVQPSEEEARGYIVTDRDPLRPEE
  GRRLVEDVARLLQVPSSAFADVEVLGPAVTFKVSANVQNVTTEDVEKATVDNKDKLEETSGLKILQTGVGSKSKL
  KFLPPQAEQEDSTKFIALTLVSLACILGVLLASGLIYCLRHSSQHRLKEKLSGLGGDPGADATAAYQELCRQRMA
  TRPPDRPEGPHTSRISSVSSQFSDGPIPSPSARSSASSWSEEPVQSNMDISTGHMILSYMEDHLKNKNRLEKEWE
  ALCAYQAEPNSSFVAQREENVPKNRSLAVLTYDHSRVLLKAENSHSHSDYINASPIMDHDPRNPAYIATQGPLPA
  TVADFWQMVWESGCVVIVMLTPLAENGVRQCYHYWPDEGSNLYHIYEVNLVSEHIWCEDFLVRSFYLKNLQTNET
  RTVTQFHFLSWYDRGVPSSSRSLLDFRRKVNKCYRGRSCPIIVHCSDGAGRSGTYVLIDMVLNKMAKGAKEIDIA
  ATLEHLRDQRPGMVQTKEQFEFALTAVAEEVNAILKALPQ

• Structural information:
  • Protein Domains: (745..100-)
    (/note="Tyrosine-protein-phosphatase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00160"-)
  • Interpro: IPR033522  IPR029021  IPR000242  IPR021613  IPR038112   IPR029403  IPR016130  IPR003595  IPR000387  
  • Prosite: PS00383 PS50056 PS50055
  • PDB: 2QEP 4HTI 4HTJ
  • PDBsum: 2QEP 4HTI 4HTJ
  • STRING: ENSP00000374069
• Other Databases: GeneCards:  PTPRN2  Malacards:  PTPRN2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0035773	insulin secretion involved in cellular response to glucose stimulus	ISS	biological process
GO:0007269	neurotransmitter secretion	ISS	biological process
GO:0030672	synaptic vesicle membrane	ISS	cellular component
GO:0030667	secretory granule membrane	ISS	cellular component
GO:0004725	protein tyrosine phosphatase activity	IEA	molecular function
GO:0006470	protein dephosphorylation	IEA	biological process
GO:0016311	dephosphorylation	IEA	biological process
GO:0030141	secretory granule	IEA	cellular component
GO:0016791	phosphatase activity	IEA	molecular function
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0004721	phosphoprotein phosphatase activity	IEA	molecular function
GO:0030054	cell junction	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005001	transmembrane receptor protein tyrosine phosphatase activity	TAS	molecular function
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0006470	protein dephosphorylation	TAS	biological process
GO:0004725	protein tyrosine phosphatase activity	IEA	molecular function
GO:0043235	receptor complex	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0043312	neutrophil degranulation	TAS	biological process
GO:0101003	ficolin-1-rich granule membrane	TAS	cellular component
GO:0007269	neurotransmitter secretion	IEA	biological process
GO:0030141	secretory granule	IEA	cellular component
GO:0035773	insulin secretion involved in cellular response to glucose stimulus	IEA	biological process
GO:0005788	endoplasmic reticulum lumen	IEA	cellular component
GO:0030141	secretory granule	IEA	cellular component
GO:0030285	integral component of synaptic vesicle membrane	IEA	cellular component
GO:0034260	negative regulation of GTPase activity	IEA	biological process
GO:0043195	terminal bouton	IEA	cellular component
GO:0030667	secretory granule membrane	IEA	cellular component
GO:0030672	synaptic vesicle membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0030658	transport vesicle membrane	IEA	cellular component
GO:0030672	synaptic vesicle membrane	IEA	cellular component
GO:0035335	peptidyl-tyrosine dephosphorylation	IEA	biological process
GO:0035335	peptidyl-tyrosine dephosphorylation	IEA	biological process
GO:0035335	peptidyl-tyrosine dephosphorylation	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa04940	Type I diabetes mellitus

Diseases

Associated diseases	References
Prediabetes syndrome	PMID:15004204
type 1 diabetes mellitus	PMID:18193190
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray