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

PTPN2 Gene

protein-coding   GIFtS: 68
GCID: GC18M012864

Protein Tyrosine Phosphatase, Non-Receptor Type 2


(Previous symbol: PTPT)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Protein Tyrosine Phosphatase, Non-Receptor Type 21 2     TC-PTP2
PTPT1 2 3 5     TCELLPTP2
TCPTP2 3     T-Cell Protein Tyrosine Phosphatase2
EC 3.1.3.483 8     Tyrosine-Protein Phosphatase Non-Receptor Type 22
PTN22     T-Cell Protein-Tyrosine Phosphatase3

External Ids:    HGNC: 96501   Entrez Gene: 57712   Ensembl: ENSG000001753547   OMIM: 1768875   UniProtKB: P177063   

Export aliases for PTPN2 gene to outside databases

Previous GC identifers: GC18M012820 GC18M012775


(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 PTPN2 Gene:
The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. Members of the PTP
family share a highly conserved catalytic motif, which is essential for the catalytic activity. PTPs are known to
be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation,
mitotic cycle, and oncogenic transformation. Epidermal growth factor receptor and the adaptor protein Shc were
reported to be substrates of this PTP, which suggested the roles in growth factor mediated cell signaling.
Multiple alternatively spliced transcript variants encoding different isoforms have been found. Two highly
related but distinctly processed pseudogenes that localize to chromosomes 1 and 13, respectively, have been
reported. (provided by RefSeq, May 2011)

GeneCards Summary for PTPN2 Gene: 
PTPN2 (protein tyrosine phosphatase, non-receptor type 2) is a protein-coding gene. Diseases associated with PTPN2 include blastoma, and crohn's disease, and among its related super-pathways are Activation of cAMP-Dependent PKA and Interferon Signaling. GO annotations related to this gene include protein tyrosine phosphatase activity and non-membrane spanning protein tyrosine phosphatase activity. An important paralog of this gene is PTPN1.

Gene Wiki entry for PTPN2 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000018.9  NT_010859.14  NC_018929.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PTPN2 gene promoter:
         STAT5B   NF-kappaB   NF-kappaB1   RSRFC4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPTPN2 promoter sequence
   Search SABiosciences Chromatin IP Primers for PTPN2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PTPN2


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

Entrez Gene cytogenetic band: 18p11.3-p11.2   Ensembl cytogenetic band:  18p11.21   HGNC cytogenetic band: 18p11.3-p11.2

PTPN2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PTPN2 gene location

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18M012864:  view genomic region     (about GC identifiers)

Start:
12,785,477 bp from pter      End:
12,929,642 bp from pter
Size:
144,166 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: PTN2_HUMAN, P17706 (See protein sequence)
Recommended Name: Tyrosine-protein phosphatase non-receptor type 2  
Size: 415 amino acids; 48473 Da
Subunit: Interacts with RMDN3. Isoform PTPB interacts with TMED9
Subcellular location: Cytoplasm
Subcellular location: Isoform PTPB: Endoplasmic reticulum
Subcellular location: Isoform PTPA: Nucleus
1 PDB 3D structure from and Proteopedia for PTPN2:
1L8K (3D)    
Secondary accessions: A8K955 A8MXU3 Q96AU5 Q96HR2
Alternative splicing: 3 isoforms:  P17706-1   P17706-2   P17706-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PTPN2: NX_P17706

Explore proteomics data for PTPN2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P17706

  • 4/7 DME Specific Peptides for PTPN2 (P17706) (see all 7)
     DQLRFSY  RMGLIQT  HCSAGIGR  YILTQGPL 

    PTPN2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PTPN2 Protein Expression
    REFSEQ proteins (4 alternative transcripts): 
    NP_001193942.1  NP_002819.2  NP_536347.1  NP_536348.1  

    ENSEMBL proteins: 
     ENSP00000320298   ENSP00000464937   ENSP00000466936   ENSP00000320546   ENSP00000464719  
     ENSP00000467043   ENSP00000311857   ENSP00000467823   ENSP00000468012   ENSP00000468155  
     ENSP00000468408   ENSP00000466206  
    Reactome Protein details: P17706
    Human Recombinant Protein Products for PTPN2: 
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    R&D Systems Recombinant & Natural Proteins for PTPN2 (TC-PTP)
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    OriGene Purified Protein for PTPN2
    OriGene Protein Over-expression Lysate for PTPN2
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    Novus Biologicals PTPN2 Protein
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    Sino Biological Recombinant Protein for PTPN2
    Sino Biological Cell Lysate for PTPN2 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PTPN2 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA12612081
    GO:0005654nucleoplasm TAS--
    GO:0005783endoplasmic reticulum IDA10940933
    GO:0005793endoplasmic reticulum-Golgi intermediate compartment IDA--
    GO:0005886colocalizes with plasma membrane IDA15592458

    PTPN2 for ontologies           About GeneDecksing



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    Cloud-Clone Corp. CLIAs for PTPN2


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

    4 InterPro protein domains:
     IPR016130 Tyr_Pase_AS
     IPR000242 Tyr_Pase_rcpt/non-rcpt
     IPR000387 Tyr/Dual-sp_Pase
     IPR012265 Ptpn1/Ptpn2

    Graphical View of Domain Structure for InterPro Entry P17706

    ProtoNet protein and cluster: P17706

    1 Blocks protein domain: IPB000242 Protein tyrosine phosphatase signature

    UniProtKB/Swiss-Prot: PTN2_HUMAN, P17706
    Similarity: Belongs to the protein-tyrosine phosphatase family. Non-receptor class 1 subfamily
    Similarity: Contains 1 tyrosine-protein phosphatase domain


    PTPN2 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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PTN2_HUMAN, P17706
    Catalytic activity: Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphate

         Genatlas biochemistry entry for PTPN2:
    protein tyrosine phosphatase,non receptor type 2,T-cell

         Enzyme Number (IUBMB): EC 3.1.3.481 2

         Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004725protein tyrosine phosphatase activity IMP11909529
    GO:0004726non-membrane spanning protein tyrosine phosphatase activity IEA--
    GO:0005178integrin binding IPI15592458
    GO:0005515protein binding IPI12359225
    GO:0016791phosphatase activity ----
         
    PTPN2 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for PTPN2:
     Decreased number of cells in m  Increased Akt phosphorylation  

         12 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Ptpn2):
     adipose tissue  behavior/neurological  cellular  digestive/alimentary  growth/size 
     hematopoietic system  homeostasis/metabolism  immune system  limbs/digits/tail  mortality/aging 
     skeleton  vision/eye 

    PTPN2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for PTPN2: Ptpn2tm1Mtr Ptpn2tm2.1Ttig

       inGenious Targeting Laboratory - Custom generated mouse model solutions for PTPN2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for PTPN2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PTPN2 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PTPN2 

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    SwitchGear 3'UTR luciferase reporter plasmidPTPN2 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PTPN2


    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for PTPN2 About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Activation of cAMP-Dependent PKA
    Activation of cAMP-Dependent PKA0.77
    Activation of PKA through GPCR0.71
    cAMP Pathway0.77
    PKA Signaling0.56
    2Interferon Signaling
    Interferon Signaling0.61
    Interferon gamma signaling0.41
    Cytokine Signaling in Immune system0.61
    3Immune System
    Immune System0.56
    4TWEAK Pathway
    Apoptotic Pathways Triggered By HIV10.42
    5PAK Pathway
    Epithelial Adherens Junctions0.36

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5/6 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for PTPN2 (see all 6)
        Activation of PKA through GPCR
    PKA Signaling
    Apoptotic Pathways Triggered By HIV1
    cAMP Pathway
    Activation of cAMP-Dependent PKA


    5        Reactome Pathways for PTPN2
        Interferon gamma signaling
    Regulation of IFNG signaling
    Cytokine Signaling in Immune system
    Interferon Signaling
    Immune System



    PTPN2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PTPN2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/36 Interacting proteins for PTPN2 (P177061, 2, 3 ENSP000003118574) via UniProtKB, MINT, STRING, and/or I2D (see all 36)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GHRP109121, 2, 3, ENSP000002308824EBI-984930,EBI-286316 MINT-6797701 MINT-6797461 MINT-6797520 MINT-6797669 MINT-6797685 MINT-6797717 MINT-6797749 I2D: score=3 STRING: ENSP00000230882
    ITGA1P561992, 3, ENSP000002825884MINT-8284727 MINT-8284737 I2D: score=1 STRING: ENSP00000282588
    SFNP319472, 3MINT-3975592 I2D: score=2 
    INSRP062132, 3, ENSP000003038304MINT-8284848 MINT-8284879 I2D: score=1 STRING: ENSP00000303830
    EGFRP005332, 3, ENSP000002754934MINT-8284755 I2D: score=1 STRING: ENSP00000275493
    About this table

    Gene Ontology (GO): 5/36 biological process terms (GO ID links to tree view) (see all 36):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006470protein dephosphorylation ----
    GO:0008285negative regulation of cell proliferation IMP15592458
    GO:0008286insulin receptor signaling pathway ISS--
    GO:0010804negative regulation of tumor necrosis factor-mediated signaling pathway ISS--
    GO:0010888negative regulation of lipid storage ISS--

    PTPN2 for ontologies           About GeneDecksing



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

    PTPN2 for compounds           About GeneDecksing

    EMD Millipore small molecules for PTPN2:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PTPN2 (PTN2)

    2 HMDB Compounds for PTPN2    About this table
    CompoundSynonyms CAS #PubMed Ids
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    8 Novoseek inferred chemical compound relationships for PTPN2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tc-48 95.9 9 15030318 (2), 9488479 (1), 9361013 (1), 18819921 (1)
    tyrosine 78.4 143 15696169 (4), 11352902 (3), 15592458 (2), 9488479 (2) (see all 58)
    phosphotyrosine 73.4 8 8112824 (1), 13678400 (1), 1381565 (1), 12749891 (1) (see all 5)
    imatinib 28.8 5 15539083 (3)
    threonine 21.1 1 1311309 (1)
    serine 18.2 1 1311309 (1)
    alanine 0 2 9488479 (1)
    arginine 0 1 12171910 (1)

    Search CenterWatch for drugs/clinical trials and news about PTPN2 / PTN2

    (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,
    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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for PTPN2 gene (4 alternative transcripts): 
    NM_001207013.1  NM_002828.3  NM_080422.2  NM_080423.2  

    Unigene Cluster for PTPN2:

    Protein tyrosine phosphatase, non-receptor type 2
    Hs.654527  [show with all ESTs]
    Unigene Representative Sequence: NM_002828
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000589444 ENST00000327283(uc002krn.3 uc002krl.3 uc002krm.3)
    ENST00000591901 ENST00000591115 ENST00000353319 ENST00000585666 ENST00000587703
    ENST00000309660(uc002krp.3) ENST00000591497 ENST00000591305 ENST00000587497
    ENST00000592776 ENST00000589216 ENST00000592059 ENST00000589086
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    Additional mRNA sequence: 

    AB209569.1 AK091525.1 AK225706.1 AK290649.1 AK292570.1 BC008244.1 BC016727.1 M25393.1 
    M80737.1 M81478.1 

    17 DOTS entries:

    DT.116838  DT.95305286  DT.86855310  DT.100794766  DT.99932109  DT.108121  DT.100026870  DT.100794762 
    DT.121429203  DT.100794765  DT.100740132  DT.100837656  DT.121090303  DT.91756333  DT.120795222  DT.121090299 
    DT.402933 

    24/210 AceView cDNA sequences (see all 210):

    BU632404 CR614824 BC008244 F08556 BQ932242 X93568 BM831356 T17417 
    AA424635 BM450334 BM727736 BX357404 AU119325 CD679338 CR615196 CK301036 
    BM469024 CB130221 CA503346 BQ775640 CR621000 BX482995 BX279723 CD299953 

    GeneLoc Exon Structure


    (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

    PTPN2 expression in normal human tissues (normalized intensities)      PTPN2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACTTGAGAAT
    PTPN2 Expression
    About this image


    PTPN2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/35 selected tissues (see all 35) fully expand
     
     Brain (Nervous System)    fully expand to see all 15 entries
             Thalamus
             Septum   
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Blood (Cardiovascular System)    fully expand to see all 5 entries
             Double Positive Thymocytes Thymus
             lung ; macrophages   
             t cells   
     
     Uterus
             uterus, post-menopause ; glandular cells   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   

    See PTPN2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PTPN2

    SOURCE GeneReport for Unigene cluster: Hs.654527

    UniProtKB/Swiss-Prot: PTN2_HUMAN, P17706
    Tissue specificity: Isoform PTPA is probably the major isoform. Isoform PTPB is expressed in T-cells and in
    placenta

        SABiosciences Expression via Pathway-Focused PCR Array including PTPN2: 
              Protein Phosphatases in human mouse rat

    Primer
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PTPN2

    (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 animals.

    Orthologs for PTPN2 gene from 6/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ptpn21 , 5 protein tyrosine phosphatase, non-receptor type 21, 5 88.57(n)1
    91.1(a)1
      18 (40.06 cM)5
    192551  NM_008977.31  NP_033003.11 
     676655115 
    chicken
    (Gallus gallus)
    Aves PTPN21 protein tyrosine phosphatase, non-receptor type 2 78.04(n)
    79.33(a)
      396409  NM_001199387.1  NP_001186316.1 
    lizard
    (Anolis carolinensis)
    Reptilia PTPN26
    Tyrosine-protein phosphatase non-receptor type
    70(a)
    1 ↔ 1
    4(42837624-42870410)
    African clawed frog
    (Xenopus laevis)
    Amphibia BX851447.12   -- 77.92(n)    BX851447.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BC055169.12   -- 74.48(n)   393438  BC055169.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Ptp61F3 axon guidance protein tyrosine
    phosphatase
    46(a)     --


    ENSEMBL Gene Tree for PTPN2 (if available)
    TreeFam Gene Tree for PTPN2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PTPN2 gene
    PTPN12  PTPRH2  PTPN222  PTPRO2  PTPN112  PTPN92  PTPN62  PTPRQ2  
    PTPRJ2  PTPN182  PTPN122  PTPRB2  
    18/26 SIMAP similar genes for PTPN2 using alignment to 10 protein entries:     PTN2_HUMAN (see all proteins) (see all similar genes):
    PTN2    PTPN1    PTPN22    PTPRO    PTPN20A    PTPN20B
    BPTP-3    DKFZp566K0524    PTPN3    DKFZp781C1038    PTPN4    PTPRB
    PTPN5    PTPRG    PTPRZ1    PTPN7    PTPRK    PTPRM

    PTPN2 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for PTPN2
    PGOHUM00000248558 PGOHUM00000244353


    (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) 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

    10/2254 SNPs in PTPN2 are shown (see all 2254)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 18 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1412584971,2
    Cuntested112782662(+) AAAGCA/GCCAAC 5 G syn1 int10--------
    rs1499600251,2
    C--12773409(+) ATTAT-/TGCTTTCA 3 -- ds50010--------
    rs1999514191,2
    --12773470(+) AAACC-/TTTTTT 3 -- ds50010--------
    rs1455769891,2
    --12773495(+) TTTCAC/TTCATT 3 -- ds50010--------
    rs455185401,2
    C,F--12773522(-) ATCGCA/GCCACT 3 -- ds50012Minor allele frequency- G:0.12NS WA 40
    rs1410931451,2
    C--12773525(+) GGTGCA/GATTTT 3 -- ds50010--------
    rs25421551,2
    F--12773555(+) CTCCCG/AGGTTC 3 -- ds50012Minor allele frequency- A:0.50NA 4
    rs1448162921,2
    C--12773606(+) ACAGGC/TGCCTA 3 -- ds50010--------
    rs455107991,2
    C,F--12773611(+) TGCCTA/GCTACC 3 -- ds50012Minor allele frequency- G:0.11NS NA 158
    rs72321461,2
    C,F--12773711(+) cacccG/Acctcg 3 -- ds50011Minor allele frequency- A:0.02WA 118

    HapMap Linkage Disequilibrium report for PTPN2 (12785477 - 12929642 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for PTPN2:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2716815CNV Deletion23290073
    esv3172CNV Deletion18987735
    nsv131711CNV Insertion16902084
    nsv909407CNV Loss21882294
    nsv130834CNV Loss16902084


    Human Gene Mutation Database (HGMD): PTPN2
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing PTPN2
    DNA2.0 Custom Variant and Variant Library Synthesis for PTPN2

    (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.)
    About This Section
    OMIM gene information: 176887    OMIM disorders: --

    20/23 diseases for PTPN2 (see all 23):    About MalaCards
    blastoma    crohn's disease    wiskott-aldrich syndrome    ankylosing spondylitis
    spondylitis    vasculitis    celiac disease    b-cell lymphomas
    diffuse large b-cell lymphoma    ulcerative colitis    type 1 diabetes    acute lymphoblastic leukemia
    lymphoblastic leukemia    non-hodgkin lymphoma    hodgkin's lymphoma    rheumatoid arthritis
    arthritis    leukemia    prostate cancer    prostatitis

    1 disease from the University of Copenhagen DISEASES database for PTPN2:
    Crohn's disease

    PTPN2 for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for PTPN2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    obesity 15 1 18236007 (1)
    tumors 0 9 17210636 (2), 15696169 (1), 19635455 (1), 20473312 (1)

    Genetic Association Database (GAD): PTPN2
    Human Genome Epidemiology (HuGE) Navigator: PTPN2 (31 documents)

    Export disorders for PTPN2 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 PTPN2 gene, integrated from 9 sources (see all 197):
    (articles sorted by number of sources associating them with PTPN2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. COOH-terminal sequence motifs target the T cell protein tyrosine phosphatase to the ER and nucleus. (PubMed id 7593185)1, 2, 9 Lorenzen J.A....Fischer E.H. (1995)
    2. Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population. (PubMed id 22446963)1, 4 Okada Y....Yamamoto K. (2012)
    3. Meta-analysis of genome-wide association studies in c eliac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci. (PubMed id 21383967)1, 4 Zhernakova A....Plenge R.M. (2011)
    4. Meta-analysis of genome-wide association studies in & gt;80 000 subjects identifies multiple loci for C-reactive protein levels. (PubMed id 21300955)1, 4 Dehghan A....Chasman D.I. (2011)
    5. Multiple common variants for celiac disease influenci ng immune gene expression. (PubMed id 20190752)1, 4 Dubois P.C....van Heel D.A. (2010)
    6. Genetic analysis in a Dutch study sample identifies m ore ulcerative colitis susceptibility loci and shows their additive role in dis ease risk. (PubMed id 19861958)1, 4 Festen E.A....Weersma R.K. (2010)
    7. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    8. PTPN2 but not PTPN22 is associated with Crohn's disea se in a New Zealand population. (PubMed id 20403149)1, 4 Morgan A.R....Ferguson L.R. (2010)
    9. Molecular reclassification of Crohn's disease by clus ter analysis of genetic variants. (PubMed id 20886065)1, 4 Cleynen I....Vermeire S. (2010)
    10. Genetic susceptibility to type 2 diabetes is associat ed with reduced prostate cancer risk. (PubMed id 20203524)1, 4 Pierce B.L. and Ahsan H. (2010)

    (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: 5771 HGNC: 9650 AceView: PTPN2 Ensembl:ENSG00000175354 euGenes: HUgn5771
    ECgene: PTPN2 H-InvDB: PTPN2

    (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 PTPN2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for PTPN2 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 PTPN2 gene:
    Search GeneIP for patents involving PTPN2

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



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    About This Section

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