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FLASH GENE
Symbol PTPRN contributors: mct - updated : 19-09-2018
HGNC name protein tyrosine phosphatase, receptor type, N
HGNC id 9676
Location 2q35      Physical location : 220.154.346 - 220.174.143
Synonym name
  • islet cell antigen 3
  • insulinoma-associated protein 2
  • Synonym symbol(s) IA2, ICA3, FLJ16131, IA-2, IA-2/PTP, ICA512, R-PTP-N
    EC.number 3.1.3.48
    DNA
    TYPE functioning gene
    SPECIAL FEATURE arranged in tandem
    text tandemly arranged with RESP18 within a 45 kb region on human chromosome 2 and share common intron-exon boundaries (Zhang 2007)
    STRUCTURE 19.95 kb     23 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    Binding site
    text structure
  • minimal promoter region with a short bp region (-216 to +115), that binds to two CREB-related binding sites, involved in transcriptional regulation of PTPRN
  • MAPPING cloned Y linked   status confirmed
    Physical map
    LOC391484 2 similar to 60S ribosomal protein L23a WNT6 2q35 wingless-type MMTV integration site family, member 6 WNT10A 2q35 wingless-type MMTV integration site family, member 10A LOC391485 2 similar to cytokeratin 8 CDK5R2 2q35 cyclin-dependent kinase 5, regulatory subunit 2 (p39) HSRNAFEV 2q33 cyclin-dependent kinase 5, regulatory subunit 2 (p39) CRYBA2 2q34-q36 crystallin, beta A2 DKFZp434O0527 2q36.1 hypothetical protein DKFZp434O0527 MGC35338 2q36.1 hypothetical protein MGC35338 IHH 2q35-q36 Indian hedgehog homolog (Drosophila) FLJ12610 2q36.1 hypothetical protein FLJ12610 SLC23A3 2q36.1 solute carrier family 23 (nucleobase transporters), member 3 CGI-57 2q36.1 hypothetical protein CGI-57 MGC3035 LOC130617 2q36.1 hypothetical protein BC018415 ABCB6 2q33-q36 ATP-binding cassette, sub-family B (MDR/TAP), member 6 FLJ22169 2q36.1 hypothetical protein FLJ22169 FLJ10415 2q36.1 hypothetical protein FLJ10415 MGC10771 STK16 2q34-q37 serine/threonine kinase 16 TUBA1 2q36.1 tubulin, alpha 1 (testis specific) TUBA4 2q36.2 tubulin, alpha 4 DNAJB2 2q32-q34 DnaJ (Hsp40) homolog, subfamily B, member 2 PTPRN 2q35-q36.1 protein tyrosine phosphatase, receptor type, N LOC389075 2 similar to REGULATED ENDOCRINE SPECIFIC PROTEIN 18 PRECURSOR DNPEP 2q36.3 aspartyl aminopeptidase DES 2q35 desmin APEG1 2q34 desmin LOC389076 2 similar to CAVP-target protein (CAVPT) GMPPA 2q36.1 GDP-mannose pyrophosphorylase A ACCN4 2q36.1 amiloride-sensitive cation channel 4, pituitary CHPF 2q36.1 chondroitin polymerizing factor LOC130612 2q36.1 similar to RIKEN cDNA A230078I05 gene KIAA0657 2q36.1 similar to RIKEN cDNA A230078I05 gene INHA 2q33-q34 inhibin, alpha STK11IP 2q36 serine/threonine kinase 11 interacting protein SLC4A3 2q36 solute carrier family 4, anion exchanger, member 3
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    23 - 3801 - 979 - 2000 11043403
    22 - 3712 - 950 - 2000 11043403
    23 - 3570 - 889 - 2000 11043403
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivestomach     Rattus norvegicus
    endocrinebraindiencephalonpituitary  
    Endocrinepancreas    
    Visualeye    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Endocrineislet cell (alpha,beta...)
    not specificneuroendocrine cell
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • major autoantigenic determinants located at the C terminus
  • two tandems protein-tyrosine phosphatase domain
  • a RESP18HD, a domain comprising residues 35 to 131 and homologous to regulated endocrine-specific protein 18 (RESP18)
  • HOMOLOGY
    interspecies homolog to murine Ia2
    Homologene
    FAMILY PTPR family
    CATEGORY enzyme , transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane,junction
        intracellular
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,cytosolic,granule
    intracellular,nucleus
    text
  • type I transmembrane protein
  • during insulin secretion, the cytoplasmic domain of PTPRN is cleaved and relocated to the nucleus, where it stimulates the transcription of the insulin gene
  • located in secretory granules of neuroendocrine cells
  • basic FUNCTION
  • tyrosine phosphatase receptor involved in neuroendocrine secretory processes (neurosecretory granules biogenesis, regulated exocytosis)
  • regulator of cyclins D and beta-cell proliferation through STATs and may have implication for diabetes therapy
  • dense core vesicle (DCV) transmembrane protein involved in insulin secretion (Zhang 2007)
  • PTPRN, PTPRN2 function is an essential regulator of autocrine insulin action in pancreatic beta-cells
  • with PTPRN2, upregulate beta-cell transcription and proliferation (Suckale 2010)
  • PTPRN, PTPRN2 are unique neuroendocrine-specific protein tyrosine phosphatases (PTPs)
  • is required for active avoidance learning
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS exocytosis transport
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with Cyclin D1 and D2 (activates cyclin D1 and D2)
  • PTPRN is an intrinsic granule membrane protein, whose cytosolic domain binds SNTB2, an F-actin-associated protein, and is cleaved upon granule exocytosis
  • RESP18 homology domain (HD) is a key determinant for PTPRN granule targeting
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   deletion    
    deletion of PTPRN, PTPRN2, structural proteins of secretory vesicles and modulators of neuroendocrine secretion, has a profound effect on the circadian system
    Susceptibility to insulin dependent diabetes mellitus encoding an autoantigen
    Variant & Polymorphism
    Candidate gene
    Marker with PTPRN2 are closely related proteins that were first identified as targets of autoantibodies in Type I diabetics (Caromile 2010)
    Therapy target
    ANIMAL & CELL MODELS