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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PTPRN Gene

protein-coding   GIFtS: 65
GCID: GC02M220118

protein tyrosine phosphatase, receptor type, N

 Explore 22 diseases affiliated with
PTPRN via our new
 Human Malady Compendium 
Biological research products
for PTPRN
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Protein Tyrosine Phosphatase, Receptor Type, N1 2     IA22 5
IA-21 2     IA-2/PTP2
Islet Cell Antigen 5122 3     Islet Cell Antigen 22
Islet Cell Autoantigen 32 3     Protein Tyrosine Phosphatase-Like N2
ICA5122 3     Receptor-Type Tyrosine-Protein Phosphatase-Like N2
R-PTP-N2 3     ICA33
ICA 5122 3     EC 3.1.3.488
PTP IA-22 3     

External Ids:    HGNC: 96761   Entrez Gene: 57982   Ensembl: ENSG000000543567   OMIM: 6017735   UniProtKB: Q168493   

Export aliases for PTPRN gene to outside databases

Previous GC identifers: GC02M218170 GC02M218875 GC02M220356 GC02M219979 GC02M219863 GC02M212007


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for PTPRN:
The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. 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. Alternate splicing results in multiple transcript variants.(provided by RefSeq, Dec
2010)

UniProtKB/Swiss-Prot: PTPRN_HUMAN, Q16849
Function: Implicated in neuroendocrine secretory processes. May be involved in processes specific for neurosecretory
granules, such as their biogenesis, trafficking or regulated exocytosis or may have a general role in neuroendocrine
functions. Seems to lack intrinsic enzyme activity. May play a role in the regulation of secretory granules via its
interaction with SNTB2

Gene Wiki entry for PTPRN


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.1  NT_005403.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PTPRN gene promoter:
         Spz1   POU3F1   NRSF form 1   MyoD   CUTL1   NRSF form 2   E47   c-Ets-1   MZF-1   ARP-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPTPRN promoter sequence
   Search SABiosciences Chromatin IP Primers for PTPRN

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PTPRN


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q35-q36.1   Ensembl cytogenetic band:  2q35   HGNC cytogenetic band: 2q35-q36.1

PTPRN Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PTPRN gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M220118:  view genomic region     (about GC identifiers)

Start:
220,154,345 bp from pter      End:
220,174,370 bp from pter
Size:
20,026 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: PTPRN_HUMAN, Q16849 (See protein sequence)
Recommended Name: Receptor-type tyrosine-protein phosphatase-like N precursor  
Size: 979 amino acids; 105848 Da
Subunit: Interacts with phosphorylated SNTB2, protecting it from protein cleavage by CAPN1. Dephosphorylation of SNTB2
upon insulin stimulation disrupts the interaction and results in its cleavage
Subcellular location: Membrane; Single-pass type I membrane protein. Note=Neuroendocrine secretory granules
Miscellaneous: Autoantigen in insulin-dependent diabetes mellitus (IDDM)
6 PDB 3D structures from and Proteopedia for PTPRN:
2I1Y (3D)        2QT7 (3D)        3N01 (3D)        3N4W (3D)        3NG8 (3D)        3NP5 (3D)    
Secondary accessions: B4DK12 F5GZS3 Q08319 Q53QD6 Q6NSL1
Alternative splicing: 3 isoforms:  Q16849-1   Q16849-2   Q16849-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PTPRN: NX_Q16849

Post-translational modifications:

  • O-glycosylated with core 1 or possibly core 8 glycans1
  • Appears to undergo multiple proteolytic cleavage at consecutive basic residues1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q16849

  • 2 DME Specific Peptides for PTPRN (Q16849)
     PIIVHCS  YIATQGP 

    PTPRN Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (3 alternative transcripts): 
    NP_001186692.1  NP_001186693.1  NP_002837.1  

    ENSEMBL proteins: 
     ENSP00000386638   ENSP00000295718   ENSP00000396842   ENSP00000392598   ENSP00000388429  
     ENSP00000395379   ENSP00000408036   ENSP00000396464   ENSP00000397105   ENSP00000445579  
     ENSP00000444244  

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    Uscn Proteins for PTPRN

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005624membrane fraction ----
    GO:0005887integral to plasma membrane TAS8024693


    PTPRN for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    PTPRN for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR021613 Receptor_IA-2
     IPR016130 Tyr_Pase_AS
     IPR000242 Tyr_Pase_rcpt/non-rcpt
     IPR000387 Tyr/Dual-sp_Pase

    Graphical View of Domain Structure for InterPro Entry Q16849

    ProtoNet protein and cluster: Q16849

    1 Blocks protein family: IPB000242 Protein tyrosine phosphatase signature

    UniProtKB/Swiss-Prot: PTPRN_HUMAN, Q16849
    Similarity: Belongs to the protein-tyrosine phosphatase family. Receptor class 8 subfamily
    Similarity: Contains 1 tyrosine-protein phosphatase domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: PTPRN_HUMAN, Q16849
    Function: Implicated in neuroendocrine secretory processes. May be involved in processes specific for neurosecretory
    granules, such as their biogenesis, trafficking or regulated exocytosis or may have a general role in neuroendocrine
    functions. Seems to lack intrinsic enzyme activity. May play a role in the regulation of secretory granules via its
    interaction with SNTB2

         Genatlas biochemistry entry for PTPRN:
    protein tyrosine phosphatase IA-2,receptor-type,expressed in islet cells,brain,encoding an autoantigen in
    insulin-dependent diabetes mellitus (new onset patients)

    Enzyme Number (IUBMB): EC 3.1.3.482

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    Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004725protein tyrosine phosphatase activity ----
    GO:0005001transmembrane receptor protein tyrosine phosphatase activity TAS8024693
    GO:0005515protein binding IPI16273344
    GO:0030507spectrin binding IPI11086001
    GO:0051020GTPase binding IEA--


    PTPRN for ontologies           About GeneDecksing


    10 GenomeRNAi human phenotypes for PTPRN:
     Decreased focal adhesion (FA)   Decreased influenza A H1N1 (A/  Decreased influenza A H1N1 (A/  Decreased influenza A/WSN/33 r 
     Decreased viability  Decreased viability with pacli  Increased apoptosis  Increased cell death HMECs cel 
     Increased cell death in breast  Upregulation of Wnt/beta-caten 

    Animal Models:
         Mouse knock-outs for PTPRN: Ptprntm1Lex Ptprntm1Aln
         3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Ptprn):
     endocrine/exocrine gland  homeostasis/metabolism  immune system 

    PTPRN for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Allograft rejection
    Type I diabetes mellitus0.67
    2PAK Pathway
    Epithelial Adherens Junctions0.36

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for PTPRN
        Epithelial Adherens Junctions


    1         Kegg Pathway  (Kegg details for PTPRN):
        Type I diabetes mellitus


    PTPRN for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PTPRN

    STRING Interaction Network Preview (showing 5 interactants - click image to see 14)

    5/18 Interacting proteins for PTPRN (Q168491, 2, 3 ENSP000002957184) via UniProtKB, MINT, STRING, and/or I2D (see all 18)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PPIAP629371, 3, ENSP000004194254EBI-728153,EBI-437708 I2D: score=3 STRING: ENSP00000419425
    SNX19Q925431, 3, ENSP000002659094EBI-728153,EBI-728232 I2D: score=3 STRING: ENSP00000265909
    PTPRSQ133321, 3, ENSP000003499324EBI-728153,EBI-1058503 I2D: score=2 STRING: ENSP00000349932
    PTPRTO145221, 3, ENSP000003622834EBI-728153,EBI-728180 I2D: score=2 STRING: ENSP00000362283
    MADDQ8WXG61, 3, ENSP000003109334EBI-728153,EBI-728168 I2D: score=3 STRING: ENSP00000310933
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000302response to reactive oxygen species IDA18048354
    GO:0009749response to glucose stimulus IEA--
    GO:0019221cytokine-mediated signaling pathway IEA--
    GO:0032868response to insulin stimulus IEA--
    GO:0043627response to estrogen stimulus IEA--


    PTPRN for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    PTPRN for compounds           About GeneDecksing

    EMD Millipore small molecules for PTPRN:
    Small Molecule - inhibitor
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    Browse Tocris compounds for PTPRN

    2 HMDB Compounds for PTPRN    About this table
    CompoundSynonyms CAS #PubMed Ids
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--
    WaterDihydrogen oxide (see all 2)7732-18-5--
    6 Novoseek chemical compound relationships for PTPRN gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glutamate 75.5 83 15016237 (2), 10333047 (2), 10909610 (1), 10047433 (1) (see all 71)
    tyrosine 71.8 96 8805677 (3), 7657822 (3), 8646884 (2), 9725268 (2) (see all 67)
    c-peptide 65.4 3 15641228 (1), 12017227 (1), 15677785 (1)
    glucose 29.8 13 10909970 (2), 16622421 (2), 10333047 (2), 10615947 (1) (see all 8)
    arginine 0 1 9317167 (1)
    cyclosporin a 0 2 16297055 (2)

    Search CenterWatch for drugs/clinical trials and news about PTPRN 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for PTPRN gene (3 alternative transcripts): 
    NM_001199763.1  NM_001199764.1  NM_002846.3  

    Unigene Cluster for PTPRN:

    Protein tyrosine phosphatase, receptor type, N
    Hs.89655  [show with all ESTs]
    Unigene Representative Sequence: NM_002846
    18/20 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 20):
    ENST00000409251 ENST00000295718(uc010zlc.2 uc002vkz.3 uc002vla.3)
    ENST00000460801 ENST00000462351 ENST00000443981 ENST00000423636 ENST00000497977
    ENST00000486480 ENST00000489650 ENST00000412847 ENST00000446182 ENST00000440552
    ENST00000476930 ENST00000442029 ENST00000451506 ENST00000468454 ENST00000484986
    ENST00000477819

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    Additional cDNA sequence: 

    AK122679.1 AK291469.1 AK296335.1 AK314574.1 BC007713.2 BC070053.1 BT006975.1 L18983.1 
    X62899.2 

    9 DOTS entries:

    DT.312952  DT.101982551  DT.100770288  DT.121027520  DT.312953  DT.95255108  DT.97842185  DT.100676017 
    DT.121027529 

    24/127 AceView cDNA sequences (see all 127):

    F02560 AA350675 T28862 L18983 BM702691 BQ129934 AI969150 BF529031 
    BX508200 X62899 BQ548659 BM565494 AL157524 BU783905 F06277 BG818026 
    BC007713 AA365693 NM_002846 BE313533 AA323154 AA936482 BU071226 AI536716 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for PTPRN    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7
    SP1:              -                       -               
    SP2:                                                      
    SP3:              -                                       


    ECgene alternative splicing isoforms for PTPRN

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PTPRN expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CGCTGCTCAA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    PTPRN expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    OvaryAntral FollicleCumulus CellsOvary
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    PureStem™ progenitor F15 (Embryonic Progenitor Cell)

    See PTPRN Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PTPRN

    SOURCE GeneReport for Unigene cluster: Hs.89655

    UniProtKB/Swiss-Prot: PTPRN_HUMAN, Q16849
    Tissue specificity: Expression is restricted to neuroendocrine cells. Found in pancreas, brain and pituitary

        SABiosciences Expression via Pathway-Focused PCR Array including PTPRN: 
              Protein Phosphatases in human mouse rat

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for PTPRN gene from 7/25 species (see all 25)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves LOC4242011 receptor-type tyrosine-protein phosphatase-like N-like 67.58(n)
    64.25(a)
      424201  XM_422048.3  XP_422048.3 
    lizard
    (Anolis carolinensis)
    Reptilia PTPRN6
    --
    60(a)
    1 ↔ 1
    1(95516642-95546141)
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.52782 Danio rerio receptor PTP-like protein IA-2 mRNA, partial more 78.87(n)    AF190144.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta ia23 protein amino acid dephosphorylation protein
    tyrosine more
    60(a)   21E2   --
    worm
    (Caenorhabditis elegans)
    Secernentea ida-13 protein tyrosine phosphatase 38(a)   III(5827369-5837359)   --
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ATPTP16
    tyrosine phosphatase 1
    22(a)
    1 → many
    1(27026711-27029092)
    rice
    (Oryza sativa)
    Liliopsida --
    --
    Protein-tyrosine phosphatase domain containing pro...
    Protein-tyrosine phosphatase domain containing pro...
    23(a)
    19(a)
    many ↔ many
    many ↔ many
    12(3791109-3796496)
    11(4000708-4008336)


    ENSEMBL Gene Tree for PTPRN (if available)
    TreeFam Gene Tree for PTPRN (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PTPRN gene
    PTPRN22  
    18/21 SIMAP similar genes for PTPRN using alignment to 9 protein entries:     PTPRN_HUMAN (see all proteins) (see all similar genes):
    DKFZp761A0712    PTPRN2    PTPRM    PTPRD    PTPRF    RESP18
    BPTP-2    BPTP-3    PTPN4    PTPRR    PTPRS    PTPRK
    PTPN3    PTPRB    PTPN5    PTPRA    PTPN12    PTPN2

    PTPRN for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/397 NCBI SNPs in PTPRN are shown (see all 397    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs11318701,2
    C,H--212007512(-) TCCTTC/TTGGCG 3 -- ut31 ese3 trp36Minor allele frequency- T:0.03MN NS EA NA 582
    rs621918541,2
    --212007757(+) TGTAGG/TCAGGA 3 -- ut310--------
    rs178474031,2
    C--212007819(-) TGGGGG/TTGCTG 3 -- ut31 ese31Minor allele frequency- T:0.00NA 2
    rs1143259601,2
    C,F,--212007833(+) GATGCC/TCTGGG 3 -- ut311Minor allele frequency- T:0.07NA 120
    rs561063981,2
    C,F,--212008756(+) AGGGAC/TGGAGG 3 -- int13Minor allele frequency- T:0.15WA CSA 122
    rs730791501,2
    C,F,--212009016(+) CAGCCA/GGCTTT 3 -- int13Minor allele frequency- G:0.15WA CSA 122
    rs778733121,2
    F,--212009190(+) GCAGTT/CTGCTA 3 -- int11Minor allele frequency- C:0.03NA 120
    rs44102821,2
    C,F,--212009508(+) GTGTGG/AGTGGC 3 -- int13Minor allele frequency- A:0.05WA NA EA 358
    rs118868641,2
    C,F,H,--212009618(+) GGAGGA/GTAGTA 3 -- int13Minor allele frequency- G:0.15WA NA EA 358
    rs730791521,2
    C,F,--212010611(+) CCACCT/CGAGCT 3 -- int13Minor allele frequency- C:0.17WA 122

    HapMap Linkage Disequilibrium report for PTPRN (220154345 - 220174370 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for PTPRN: --

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    PTPRN for disorders           About GeneDecksing

    OMIM gene information: 601773    OMIM disorders: --

    20/22 diseases for PTPRN (see all 22):    About MalaCards
    diabetes mellitus    type 2 diabetes mellitus    type 1 diabetes mellitus    glucose intolerance
    autonomic neuropathy    gestational diabetes    tetanus    tourette syndrome
    insulinoma    viral hepatitis    autoimmune thyroiditis    hyperglycemia
    celiac disease    neuropathy    twinning    ovarian cancer
    thyroiditis    lung cancer    ataxia    hepatitis

    2 diseases from the University of Copenhagen DISEASES database for PTPRN:
    Diabetes mellitus     Insulinoma

    10/15 Novoseek disease relationships for PTPRN gene (see all 15)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    diabetes autoimmune 82.8 17 19808923 (2), 11771957 (2), 15893693 (1), 18706702 (1) (see all 11)
    diabetes mellitus insulin-dependent 79.7 22 17130560 (2), 9828138 (2), 9317167 (2), 8144912 (1) (see all 18)
    autoimmunity 79.3 23 15893693 (2), 9642660 (1), 9725268 (1), 9389426 (1) (see all 14)
    insulinoma 69.2 19 8024693 (3), 18706702 (2), 7657822 (2), 19550073 (1) (see all 12)
    autoimmune response 61.2 6 17130560 (1), 18706702 (1), 8675688 (1), 9350452 (1) (see all 5)
    autoimmune diseases 50.1 4 15016237 (1), 11264788 (1), 10209508 (1), 19768773 (1)
    mimicry 33.5 1 10923632 (1)
    diabetes mellitus 30.5 4 15641228 (1), 18706702 (1), 15155543 (1), 19622083 (1)
    diabetes gestational 27.6 1 10645715 (1)
    hyperglycemia 26.8 1 10655528 (1)

    Genetic Association Database (GAD): PTPRN
    Human Genome Epidemiology (HuGE) Navigator: PTPRN (1 document)

    Export disorders for PTPRN gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for PTPRN gene, integrated from 9 sources (see all 241):
    (articles sorted by number of sources associating them with PTPRN)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and identification of a receptor-type protein tyrosine phosphatase, IA-2, from human insulinoma. (PubMed id 8024693)1, 2, 3, 9 Lan M.S.... Notkins A.L. (1994)
    2. Dephosphorylation of beta2-syntrophin and Ca2+/mu-calpain-mediated cleavage of ICA512 upon stimulation of insulin secretion. (PubMed id 11483505)1, 2, 9 Ort T....Solimena M. (2001)
    3. Islet cell antigen 512 is a diabetes-specific islet autoantigen related to protein tyrosine phosphatases. (PubMed id 8144912)1, 2, 9 Rabin D.U.... Rae P.M. (1994)
    4. Structure of the mature ectodomain of the human receptor-type protein-tyrosine phosphatase IA-2. (PubMed id 18048354)1, 2 Primo M.E....Ermacora M.R. (2008)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. Polymorphism in gene for islet autoantigen, IA-2, and type 1 diabetes in Japanese subjects. (PubMed id 11334676)1, 4 Nishino M....Ogihara T. (2001)
    7. ICA 512, an autoantigen of type I diabetes, is an intrinsic membrane protein of neurosecretory granules. (PubMed id 8641276)1, 2 Solimena M.... Rabin D.U. (1996)
    8. The IA-2 interactome. (PubMed id 16273344)1, 9 Hu Y.F....Notkins A.L. (2005)
    9. Genomic structure and promoter sequence of the insulin-dependent diabetes mellitus autoantigen, IA-2 (PTPRN). (PubMed id 9828138)1, 9 Xie J....Notkins A.L. (1998)
    10. Autoantibodies to IA-2 in type 1 diabetes: measurements with a new enzyme-linked immunosorbent assay. (PubMed id 12021115)1, 9 Kawasaki E....Eguchi K. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 5798 HGNC: 9676 AceView: PTPRN Ensembl:ENSG00000054356 euGenes: HUgn5798
    ECgene: PTPRN Kegg: 5798 H-InvDB: PTPRN

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PTPRN Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for PTPRN Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for PTPRN gene:
    Search GeneIP for patents involving PTPRN

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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