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PTPRN Gene

protein-coding   GIFtS: 69
GCID: GC02M220118

Protein Tyrosine Phosphatase, Receptor Type, N

Microbiology & Infectious Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Protein Tyrosine Phosphatase, Receptor Type, N1 2     IA-22
Islet Cell Antigen 5122 3     IA-2/PTP2
Islet Cell Autoantigen 32 3     Islet Cell Antigen 22
ICA5122 3     Protein Tyrosine Phosphatase-Like N2
R-PTP-N2 3     Receptor-Type Tyrosine-Protein Phosphatase-Like N2
ICA 5122 3     ICA33
PTP IA-22 3     EC 3.1.3.488
IA22 5     

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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for PTPRN Gene:
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)

GeneCards Summary for PTPRN Gene:
PTPRN (protein tyrosine phosphatase, receptor type, N) is a protein-coding gene. Diseases associated with PTPRN include maternally inherited diabetes and deafness, and type 1 diabetes mellitus. GO annotations related to this gene include GTPase binding and transmembrane receptor protein tyrosine phosphatase activity. An important paralog of this gene is PTPN1.

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 Gene


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000002.12  NC_018913.2  NT_005403.18  
Regulatory elements:
   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 Chromatin IP Primers for PTPRN

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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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
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

Explore proteomics data for PTPRN at MOPED

Post-translational modifications: 

  • O-glycosylated with core 1 or possibly core 8 glycans1
  • Appears to undergo multiple proteolytic cleavage at consecutive basic residues1
  • Glycosylation2 at Thr441, Asn506, Asn524
  • Modification sites at PhosphoSitePlus
  • 2 DME Specific Peptides for PTPRN (Q16849)
     PIIVHCS  YIATQGP 


    See PTPRN Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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   ENSP00000475591  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    PTPR: Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like

    IUPHAR Guide to PHARMACOLOGY protein family classification: Type N
    Receptor tyrosine phosphatases (RTP)

    4 InterPro protein domains:
     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 domain: 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


    PTPRN for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004725protein tyrosine phosphatase activity ----
    GO:0005001transmembrane receptor protein tyrosine phosphatase activity TAS8024693
    GO:0005515protein binding IPI11086001
    GO:0016791phosphatase activity ----
    GO:0030507spectrin binding IPI11086001
         
    PTPRN for ontologies           About GeneDecksing


    Phenotypes:
         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 

         3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Ptprn):
     endocrine/exocrine gland  homeostasis/metabolism  immune system 

    PTPRN for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for PTPRN: Ptprntm1Lex Ptprntm1Aln

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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PTPRN

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    7 qRT-PCR Assays for microRNAs that regulate PTPRN:
    hsa-miR-1178 hsa-miR-2117 hsa-miR-3202 hsa-miR-518f* hsa-miR-1301 hsa-miR-548n hsa-miR-4273
    SwitchGear 3'UTR luciferase reporter plasmidPTPRN 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PTPRN_HUMAN, Q16849: Membrane; Single-pass type I membrane protein. Note=Neuroendocrine secretory granules
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    cytoskeleton1
    golgi apparatus1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005887integral component of plasma membrane TAS8024693
    GO:0016020membrane ----

    PTPRN for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for PTPRN About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Allograft rejection
    Type I diabetes mellitus0.69
    2PAK Pathway
    Epithelial Adherens Junctions0.36

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

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


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


    PTPRN for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including PTPRN: 
              Protein Phosphatases in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for PTPRN

    STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

    Selected Interacting proteins for PTPRN (Q168491, 2, 3 ENSP000002957184) via UniProtKB, MINT, STRING, and/or I2D (see all 21)
    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-711536 I2D: score=2 STRING: ENSP00000349932
    PTPRTO145221, 3, ENSP000003622834EBI-728153,EBI-728180 I2D: score=2 STRING: ENSP00000362283
    SPTBN4Q9H2541, 3, ENSP000002633734EBI-728153,EBI-308543 I2D: score=2 STRING: ENSP00000263373
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000302response to reactive oxygen species IDA18048354
    GO:0006470protein dephosphorylation ----
    GO:0009749response to glucose IEA--
    GO:0016311dephosphorylation ----
    GO:0019221cytokine-mediated signaling pathway IEA--

    PTPRN for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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 inferred 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)



    PTPRN for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    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
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 19):
    ENST00000409251 ENST00000295718(uc010zlc.2 uc002vkz.3 uc002vla.3)
    ENST00000460801 ENST00000462351 ENST00000443981 ENST00000423636 ENST00000497977
    ENST00000486480 ENST00000489650 ENST00000412847 ENST00000446182 ENST00000440552
    ENST00000476930 ENST00000442029 ENST00000451506 ENST00000606213 ENST00000468454
    ENST00000484986
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    hsa-miR-1178 hsa-miR-2117 hsa-miR-3202 hsa-miR-518f* hsa-miR-1301 hsa-miR-548n hsa-miR-4273
    SwitchGear 3'UTR luciferase reporter plasmidPTPRN 3' UTR sequence
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    Additional mRNA 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 

    Selected AceView cDNA sequences (see all 127):

    L18983 F02560 T28862 BU783132 BE313533 AA350675 BM702691 BU948238 
    BQ548659 BU071226 BG818026 AL157524 BX508200 X62899 BC007713 BX115193 
    BU786785 AA323154 BM565494 AI969150 BF529031 NM_002846 BC070053 AA936482 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    PTPRN expression in normal human tissues (normalized intensities)      PTPRN embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CGCTGCTCAA
    PTPRN Expression
    About this image


    PTPRN expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Fibroblasts
             Detroit 551
     
     Epidermis (Integumentary System)
             Detroit 551
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Ovary (Reproductive System)
             Cumulus Cells Antral Follicle
    PTPRN Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PTPRN Protein Expression

    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

        Pathway & Disease-focused RT2 Profiler PCR Array including PTPRN: 
              Protein Phosphatases in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PTPRN

    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for PTPRN gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ptprn1 , 5 protein tyrosine phosphatase, receptor type, N1, 5 86.01(n)1
    87.76(a)1
      1 (38.64 cM)5
    192751  NM_008985.21  NP_033011.21 
     752470415 
    chicken
    (Gallus gallus)
    Aves LOC4242011 receptor-type tyrosine-protein phosphatase-like N-like 64.92(n)
    59.67(a)
      424201  XM_422048.4  XP_422048.3 
    lizard
    (Anolis carolinensis)
    Reptilia PTPRN6
    protein tyrosine phosphatase, receptor type, N
    61(a)
    1 ↔ 1
    1(95492007-95547944)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia ptprn1 protein tyrosine phosphatase, receptor type, N 69.18(n)
    70.57(a)
      100158522  NM_001127959.1  NP_001121431.1 
    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)   --


    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)
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    Paralogs for PTPRN gene
    PTPN12  PTPN222  PTPN112  PTPN92  PTPN62  PTPRN22  PTPN142  PTPN212  
    PTPN20B2  PTPN22  PTPN122  PTPN182  PTPN20A2  
    Selected 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    PTPRR
    RESP18    BPTP-2    BPTP-3    PTPN4    PTPRS    PTPRK
    PTPN3    PTPRB    PTPN5    PTN2    PTPRA    PTPN12

    PTPRN for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PTPRN (see all 547)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs345667081,2
    C--212028651(+) TTAAA-/TTTTTT 3 -- us2k10--------
    rs1144817741,2
    F--212028661(+) TTTTTT/AATTTT 3 -- us2k11Minor allele frequency- A:0.11WA 118
    rs1409571201,2
    C--219534624(+) TTGTGC/TTACGT 3 -- ds50010--------
    rs1908008571,2
    C--219534665(+) TTTCCA/GTCTGT 3 -- ds50010--------
    rs1140556121,2
    F--219534728(+) GCCTCG/ATTCTA 3 -- ds50011Minor allele frequency- A:0.01WA 118
    rs1501918941,2
    --219534735(+) TCTAAC/TGTAGT 3 -- ds50010--------
    rs11318701,2
    C,H--219534968(-) TCCTTC/TTGGCG 3 -- ut31 ese3 trp36Minor allele frequency- T:0.03MN NS EA NA 582
    rs1388096201,2
    C--219535070(+) AGGCCC/TGGGGC 3 -- ut310--------
    rs1817172111,2
    --219535102(+) TGTGGC/TGACCC 3 -- ut310--------
    rs1487695511,2
    C--219535186(+) AGCTA-/CCCAGGA 3 -- ut310--------

    HapMap Linkage Disequilibrium report for PTPRN (220154345 - 220174370 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for PTPRN:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv508885CNV Insertion20534489
    nsv834543CNV Loss17160897
    nsv527936CNV Loss19592680

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PTPRN
    DNA2.0 Custom Variant and Variant Library Synthesis for PTPRN

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 601773    OMIM disorders: --

    Selected diseases for PTPRN (see all 24):    About MalaCards
    maternally inherited diabetes and deafness    type 1 diabetes mellitus    diabetes mellitus    insulinoma
    type 1 diabetes    tetanus    autonomic neuropathy    antiphospholipid syndrome
    gestational diabetes    glucose intolerance    hyperglycemia    graves' disease
    viral hepatitis    neuronal ceroid lipofuscinosis    autoimmune thyroiditis    celiac disease
    neuropathy    thyroiditis    ataxia    ovarian cancer

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

    PTPRN for disorders           About GeneDecksing

    Selected Novoseek inferred 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)
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    PubMed articles for PTPRN gene, integrated from 10 sources (see all 244):
    (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. (DNA Cell Biol. 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. (EMBO J. 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. (J. Immunol. 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. (J. Biol. Chem. 2008)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 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. (Hum. Immunol. 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. (EMBO J. 1996)
    8. The IA-2 interactome. (PubMed id 16273344)1, 9 Hu Y.F....Notkins A.L. (Diabetologia 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. (Genomics 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. (Ann. N. Y. Acad. Sci. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 5798 HGNC: 9676 AceView: PTPRN Ensembl:ENSG00000054356 euGenes: HUgn5798
    ECgene: PTPRN Kegg: 5798 H-InvDB: PTPRN

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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.)
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    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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