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

PTPN6 Gene

protein-coding   GIFtS: 71
GCID: GC12P007055

Protein Tyrosine Phosphatase, Non-Receptor Type 6

Microbiology & Infectious Diseases Congress
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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 61 2     HCPH2
Hematopoietic Cell Protein-Tyrosine Phosphatase2 3     HPTP1C2
Protein-Tyrosine Phosphatase 1C2 3     SHP-12
Protein-Tyrosine Phosphatase SHP-12 3     SHP-1L2
HCP2 3     SHP12
PTP-1C2 3     Hematopoietic Cell Phosphatase2
SH-PTP12 3     Tyrosine-Protein Phosphatase Non-Receptor Type 62
EC 3.1.3.483 8     PTP1C3

External Ids:    HGNC: 96581   Entrez Gene: 57772   Ensembl: ENSG000001116797   OMIM: 1768835   UniProtKB: P293503   

Export aliases for PTPN6 gene to outside databases

Previous GC identifers: GC12M007143 GC12M007227 GC12P006935 GC12P006926 GC12P006911


(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 PTPN6 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. N-terminal part of this PTP contains two tandem Src homolog (SH2)
domains, which act as protein phospho-tyrosine binding domains, and mediate the interaction of this PTP with its
substrates. This PTP is expressed primarily in hematopoietic cells, and functions as an important regulator of
multiple signaling pathways in hematopoietic cells. This PTP has been shown to interact with, and dephosphorylate
a wide spectrum of phospho-proteins involved in hematopoietic cell signaling. Multiple alternatively spliced
variants of this gene, which encode distinct isoforms, have been reported. (provided by RefSeq, Jul 2008)

GeneCards Summary for PTPN6 Gene: 
PTPN6 (protein tyrosine phosphatase, non-receptor type 6) is a protein-coding gene. Diseases associated with PTPN6 include cd45 deficiency, and breast adenocarcinoma, and among its related super-pathways are Immune response Role of DAP12 receptors in NK cells and Immune response IFN alpha/beta signaling pathway. GO annotations related to this gene include protein kinase binding and transmembrane receptor protein tyrosine phosphatase activity. An important paralog of this gene is PTPN1.

UniProtKB/Swiss-Prot: PTN6_HUMAN, P29350
Function: Modulates signaling by tyrosine phosphorylated cell surface receptors such as KIT and the EGF
receptor/EGFR. The SH2 regions may interact with other cellular components to modulate its own phosphatase
activity against interacting substrates. Together with MTUS1, induces UBE2V2 expression upon angiotensin II
stimulation. Plays a key role in hematopoiesis

summary for PTPN6 Gene:
Protein tyrosine phosphatases (PTPs) are a group of enzymes that catalyze the removal of phosphate groups
from tyrosine residues by the hydrolysis of phosphoric acid monoesters. They directly oppose the actions of
kinases and phosphorylases and therefore play an integral role in many signal transduction pathways. PTPs
are cysteine-dependent phosphatases that contain a conserved C[X]5R motif essential for enzymatic activity.
PTPs are currently divided into five subtypes; tyrosine-specific phosphatases (e.g. PTP1B), dual specificity
phosphatases (DSPs) (e.g. DUSP1), Cdc25 phosphatases (e.g. Cdc25A), myotubularin-related phosphatases (e.g.
MTMR13) and low molecular weight phosphatases (e.g. PTPase A). Perturbations in PTP activity has been
implicated in human diseases, including type II diabetes. PTPs have been identified as a negative regulator
of the insulin signaling by dephosphorylating phosphotyrosine residues of insulin receptor kinase. In
cancers, PTPs dephosphorylate EGFR, JAK2 and TYK2 kinases, promoting oncogenic transformation.

Gene Wiki entry for PTPN6 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_000012.11  NT_009759.16  NC_018923.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PTPN6 gene promoter:
         STAT1   ATF-2   c-Jun   NF-kappaB   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): PTPN6 promoter sequence
   Search SABiosciences Chromatin IP Primers for PTPN6

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PTPN6


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

Entrez Gene cytogenetic band: 12p13   Ensembl cytogenetic band:  12p13.31   HGNC cytogenetic band: 12p13.31

PTPN6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PTPN6 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P007055:  view genomic region     (about GC identifiers)

Start:
7,055,631 bp from pter      End:
7,070,479 bp from pter
Size:
14,849 bases      Orientation:
plus 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: PTN6_HUMAN, P29350 (See protein sequence)
Recommended Name: Tyrosine-protein phosphatase non-receptor type 6  
Size: 595 amino acids; 67561 Da
Subunit: Monomer. Interacts with MTUS1 (By similarity). Interacts with MILR1 (tyrosine-phosphorylated). Interacts
with KIT (By similarity). Binds PTPNS1, LILRB1 and LILRB2. Interacts with FCRL2, FCRL3, FCRL4, CD300LF, CDK2 and
CD84. Interacts with KIR2DL1; the interaction is enhanced by ARRB2. Interacts (via SH2 1 domain) with ROS1; the
interaction is direct and promotes ROS1 dephosphorylation. Interacts with EGFR; inhibits EGFR-dependent
activation of MAPK/ERK. Interacts with LYN. Interacts with the tyrosine phosphorylated form of PDPK1
Subcellular location: Cytoplasm. Nucleus. Note=In neurons, translocates into the nucleus after treatment with
angiotensin II (By similarity). Shuttles between the cytoplasm and nucleus via its association with PDPK1
6/12 PDB 3D structures from and Proteopedia for PTPN6 (see all 12):
1FPR (3D)        1GWZ (3D)        1X6C (3D)        2B3O (3D)        2RMX (3D)        2YU7 (3D)    
Secondary accessions: A8K306 G3V0F8 Q969V8 Q9UK67
Alternative splicing: 4 isoforms:  P29350-1   P29350-3   P29350-2   P29350-4   

Explore the universe of human proteins at neXtProt for PTPN6: NX_P29350

Explore proteomics data for PTPN6 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylated on tyrosine residues. Binding of KITLG/SCF to KIT increases tyrosine phosphorylation (By
    similarity). Phosphorylation at Tyr-564 enhances phosphatase activity
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P29350

  • 4/13 DME Specific Peptides for PTPN6 (P29350) (see all 13)
     GFWEEFE  PIIVHCS  WPDHGVP  VQTEAQY 

    PTPN6 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PTPN6 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_002822.2  NP_536858.1  NP_536859.1  

    ENSEMBL proteins: 
     ENSP00000443393   ENSP00000444805   ENSP00000382376   ENSP00000438740   ENSP00000326010  
     ENSP00000476175   ENSP00000441044   ENSP00000445646   ENSP00000440114   ENSP00000446345  
     ENSP00000415979   ENSP00000391592  
    Reactome Protein details: P29350
    Human Recombinant Protein Products for PTPN6: 
    EMD Millipore Purified and/or Recombinant PTPN6 Protein
    Browse R&D Systems for human recombinant proteins
    Enzo Life Sciences proteins for PTPN6
    OriGene Purified Proteins for PTPN6
    OriGene Protein Over-expression Lysate for PTPN6
    OriGene MassSpec for PTPN6 
    OriGene Custom Protein Services for PTPN6
    GenScript Custom Purified and Recombinant Proteins Services for PTPN6
    Novus Biologicals PTPN6 Proteins
    Novus Biologicals PTPN6 Lysates
    Sino Biological Recombinant Protein for PTPN6
    Sino Biological Cell Lysate for PTPN6 
    ProSpec Recombinant Protein for PTPN6
    Cloud-Clone Corp. Proteins for PTPN6 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol TAS--
    GO:0016020membrane TAS10506221
    GO:0042105alpha-beta T cell receptor complex IEA--

    PTPN6 for ontologies           About GeneDecksing



    PTPN6 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of PTPN6
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    Abcam antibodies for PTPN6
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    ThermoFisher Antibody for PTPN6
    LSBio Antibodies in human, mouse, rat for PTPN6 

    Assay Products for PTPN6: 
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    GenScript Custom Assay Services for PTPN6
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    Cloud-Clone Corp. ELISAs for PTPN6 
    Cloud-Clone Corp. CLIAs for PTPN6


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    SH2D: SH2 domain containing
    PTPN: Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor

    5 InterPro protein domains:
     IPR016130 Tyr_Pase_AS
     IPR000242 Tyr_Pase_rcpt/non-rcpt
     IPR000387 Tyr/Dual-sp_Pase
     IPR000980 SH2
     IPR012152 Tyr_Pase_non-rcpt_typ-6/11

    Graphical View of Domain Structure for InterPro Entry P29350

    ProtoNet protein and cluster: P29350

    2 Blocks protein domains:
    IPB000242 Protein tyrosine phosphatase signature
    IPB000980 SH2 domain signature


    UniProtKB/Swiss-Prot: PTN6_HUMAN, P29350
    Domain: The N-terminal SH2 domain functions as an auto-inhibitory domain, blocking the catalytic domain in the
    ligand-free close conformation
    Similarity: Belongs to the protein-tyrosine phosphatase family. Non-receptor class 2 subfamily
    Similarity: Contains 2 SH2 domains
    Similarity: Contains 1 tyrosine-protein phosphatase domain


    PTPN6 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: PTN6_HUMAN, P29350
    Function: Modulates signaling by tyrosine phosphorylated cell surface receptors such as KIT and the EGF
    receptor/EGFR. The SH2 regions may interact with other cellular components to modulate its own phosphatase
    activity against interacting substrates. Together with MTUS1, induces UBE2V2 expression upon angiotensin II
    stimulation. Plays a key role in hematopoiesis
    Catalytic activity: Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphate

         Genatlas biochemistry entry for PTPN6:
    protein tyrosine phosphatase,non receptor type 6,with two SH2 domains,expressed in hematopoietic
    cells,overexpressed in neutrophils cells from patients with severe congenital neutropenia (defective
    dephosphorylation of proteins involved in signaling pathways)

         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:0001784phosphotyrosine binding IEA--
    GO:0004725protein tyrosine phosphatase activity TAS--
    GO:0005001transmembrane receptor protein tyrosine phosphatase activity IDA11266449
    GO:0005515protein binding IPI10206955
    GO:0016791phosphatase activity ----
         
    PTPN6 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for PTPN6:
     Decreased focal adhesion (FA)   Increased cell death HMECs cel  Weaker migration 

         15 MGI mutant phenotypes (inferred from 8 alleles(MGI details for Ptpn6):
     cellular  digestive/alimentary  endocrine/exocrine gland  growth/size  hematopoietic system 
     homeostasis/metabolism  immune system  integument  limbs/digits/tail  mortality/aging 
     nervous system  pigmentation  reproductive system  respiratory system  skeleton 

    PTPN6 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for PTPN6 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for PTPN6

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PTPN6 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PTPN6 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PTPN6
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate PTPN6
    SwitchGear 3'UTR luciferase reporter plasmidPTPN6 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of PTPN6

    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): PTPN6 (NM_080548)
    Sino Biological Human cDNA Clone for PTPN6
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PTPN6
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PTPN6
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                         Customized lentivirus expression plasmids for stable overexpression of PTPN6 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PTPN6


    (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 PTPN6 About   (see all 44)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Immune response Fc epsilon RI pathway
    Immune response BCR pathway0.45
    Immune response CD16 signaling in NK cells0.32
    Immune response Role of DAP12 receptors in NK cells0.32
    Natural killer cell mediated cytotoxicity0.31
    2Immune response IFN alpha/beta signaling pathway
    Immune response IFN alpha/beta signaling pathway0.71
    Interferon alpha/beta signaling0.45
    Regulation of IFNA signaling0.71
    3B cell receptor signaling pathway
    B cell receptor signaling pathway0.42
    T cell receptor signaling pathway0.38
    BCR signaling pathway0.42
    4Development EPO-induced Jak-STAT pathway
    Development EPO-induced Jak-STAT pathway0.42
    EPO signaling pathway0.34
    5Signaling events mediated by Stem cell factor receptor (c-Kit)
    Kit Receptor Signaling Pathway0.37
    Signaling events mediated by Stem cell factor receptor (c-Kit)0.37

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5/10 EMD Millipore Pathways for PTPN6 (see all 10)
        Immune response CD16 signaling in NK cells
    Immune response Role of DAP12 receptors in NK cells
    Development EPO-induced Jak-STAT pathway
    Immune response IL-3 activation and signaling pathway
    Immune response IL-2 activation and signaling pathway

    2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for PTPN6
        Erythropoietin Pathway
    Epithelial Adherens Junctions

    3 Cell Signaling Technology (CST) Pathways for PTPN6
        Phosphatases
    Lymphocyte Signaling
    Jak/Stat Pathway

    5/10 GeneGo (Thomson Reuters) Pathways for PTPN6 (see all 10)
        Immune response CD16 signaling in NK cells
    Immune response BCR pathway
    Immune response IFN alpha/beta signaling pathway
    Immune response IL-2 activation and signaling pathway
    Development Thrombopoetin signaling via JAK-STAT pathway

    5/15 BioSystems Pathways for PTPN6 (see all 15)
        EGFR1 Signaling Pathway
    IL-5 Signaling Pathway
    IL-4 signaling Pathway
    Kit Receptor Signaling Pathway
    IL-3 Signaling Pathway


    5/25        Reactome Pathways for PTPN6 (see all 25)
        Regulation of IFNA signaling
    Interferon alpha/beta signaling
    Costimulation by the CD28 family
    Platelet homeostasis
    Signal regulatory protein (SIRP) family interactions


    5/7         Kegg Pathways  (Kegg details for PTPN6) (see all 7):
        Adherens junction
    Jak-STAT signaling pathway
    Natural killer cell mediated cytotoxicity
    T cell receptor signaling pathway
    B cell receptor signaling pathway


    PTPN6 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PTPN6

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

    5/225 Interacting proteins for PTPN6 (P293501, 2, 3 ENSP000003915924) via UniProtKB, MINT, STRING, and/or I2D (see all 225)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KIR2DL3P436282, 3, ENSP000003422154MINT-8027387 MINT-8027432 MINT-74921 MINT-8027447 MINT-8035737 MINT-8035752 MINT-8035662 MINT-74922 MINT-8027357 MINT-8035632 MINT-8035647 MINT-8027372 MINT-74923 I2D: score=2 STRING: ENSP00000342215
    EPORP192352, 3, ENSP000002221394MINT-77967 MINT-74899 MINT-74949 MINT-77965 MINT-74951 MINT-73490 MINT-77964 MINT-77966 MINT-73504 MINT-73509 MINT-8037088 I2D: score=4 STRING: ENSP00000222139
    ENSG00000231003O958662, 3, ENSP000004067064MINT-8035954 I2D: score=3 STRING: ENSP00000406706
    ENSG00000206396O958662, 3MINT-8035954 I2D: score=3 
    ENSG00000224393O958662, 3MINT-8035954 I2D: score=3 
    About this table

    Gene Ontology (GO): 5/32 biological process terms (GO ID links to tree view) (see all 32):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002924negative regulation of humoral immune response mediated by circulating immunoglobulin IEA--
    GO:0006470protein dephosphorylation IDA11266449
    GO:0006915apoptotic process TAS10506221
    GO:0007186G-protein coupled receptor signaling pathway TAS7781604
    GO:0007596blood coagulation TAS--

    PTPN6 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

    PTPN6 for compounds           About GeneDecksing

    EMD Millipore small molecules for PTPN6:
    Small Molecule - inhibitor
    Enzo Life Sciences drugs & compounds for PTPN6

    Compounds for PTPN6 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    Alexidine dihydrochlorideSelective inhibitor of PTPMT1[1715-30-6]
    Sodium orthovanadateProtein tyrosine phosphatase inhibitor[13721-39-6]
    TCS 401Selective inhibitor of PTP1B[243967-42-2]
    BVT 948Non-competitive protein tyrosine phosphatase inhibitor; enhances insulin signaling[39674-97-0]
    NSC 87877Potent inhibitor of shp2 and shp1 PTP[56990-57-9]

    2 HMDB Compounds for PTPN6    About this table
    CompoundSynonyms CAS #PubMed Ids
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    10/44 Novoseek inferred chemical compound relationships for PTPN6 gene (see all 44)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tyrosine 87.7 618 7512963 (7), 18377662 (6), 7518460 (5), 9528781 (5) (see all 99)
    phosphotyrosine 79.7 37 9148918 (3), 11994457 (2), 14699166 (2), 8691154 (2) (see all 26)
    sodium orthovanadate 69.7 1 7518460 (1)
    vanadate 61.7 7 18721821 (1), 8621771 (1), 15797259 (1), 17558712 (1) (see all 6)
    sodium stibogluconate 60.8 14 11544330 (2), 19833736 (1), 18292540 (1), 19514839 (1) (see all 5)
    inositol 56.6 11 9743328 (1), 10651806 (1), 11709085 (1), 9203414 (1) (see all 11)
    5-aza-2'deoxycytidine 47.2 9 20196786 (2), 16871283 (1), 19379557 (1), 19551406 (1)
    phenylarsine oxide 44.5 1 8691154 (1)
    phosphatidylinositol 37.6 8 9452499 (2), 10508402 (1), 17647198 (1), 9045636 (1) (see all 7)
    mg 132 35.7 2 14624462 (1), 18617527 (1)

    Search CenterWatch for drugs/clinical trials and news about PTPN6 / PTN6

    (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 PTPN6 gene (3 alternative transcripts): 
    NM_002831.5  NM_080548.4  NM_080549.3  

    Unigene Cluster for PTPN6:

    Protein tyrosine phosphatase, non-receptor type 6
    Hs.63489  [show with all ESTs]
    Unigene Representative Sequence: NM_080549
    18/24 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 24):
    ENST00000543115 ENST00000542848 ENST00000543120 ENST00000399448(uc001qsa.1 uc010sfr.1)
    ENST00000534900 ENST00000538318 ENST00000538715 ENST00000318974 ENST00000543744
    ENST00000540740 ENST00000416215(uc010sfs.1) ENST00000545153 ENST00000536521
    ENST00000535462 ENST00000541698 ENST00000542462 ENST00000542277 ENST00000536013

    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: 

    AK223629.1 AK290421.1 AK298470.1 AK300167.1 AK308230.1 AK309037.1 AK313379.1 BC002523.2 
    BC007667.2 BT007390.1 M74903.1 M77273.1 

    20 DOTS entries:

    DT.91826354  DT.100028513  DT.102841597  DT.99987797  DT.121157420  DT.92434526  DT.97847706  DT.100818081 
    DT.456224  DT.121157735  DT.40240693  DT.102841606  DT.121157541  DT.86855134  DT.91706785  DT.95323462 
    DT.100028514  DT.121157572  DT.86855135  DT.95251915 

    11 AceView cDNA sequences:

    BC002523 NM_080549 NM_080548 CR590933 NM_002831 AF178946 BT007390 M74903 
    M77273 BC007667 X62055 

    GeneLoc Exon Structure

    5/21 Alternative Splicing Database (ASD) splice patterns (SP) for PTPN6 (see all 21)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b · 3c · 3d · 3e · 3f · 3g ^ 4a · 4b ^ 5a · 5b · 5c · 5d · 5e ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b ^
    SP1:                          -     -     -     -     -     -     -     -     -           -     -                       -     -                                 
    SP2:                                                                                      -     -                       -     -                                 
    SP3:                                                                                      -     -                       -     -                                 
    SP4:                                                                                      -     -                       -     -                                 
    SP5:                                                                                      -     -                       -     -           -     -               

    ExUns: 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19a · 19b ^ 20a · 20b ^ 21a · 21b
    SP1:                                                  -     -                             -                     
    SP2:                                                  -     -                             -                     
    SP3:                                                  -     -                                                   
    SP4:                                                                                                            
    SP5:                                                                                                            


    ECgene alternative splicing isoforms for PTPN6

    (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

    PTPN6 expression in normal human tissues (normalized intensities)      PTPN6 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCTCAGCCCT
    PTPN6 Expression
    About this image


    PTPN6 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/4 selected tissues (see all 4) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 11 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
             Peripheral blood Pan-T Cells   
             BONE MARROW   
     
     Liver (Hepatobiliary System)
             Fetal Liver CD36+ Cells   
     
     Umbilical Cord (Extraembryonic Tissues)
             Cord Blood Monocytes (CD14+)   
     
     Bone (Muscoskeletal System)
             BONE MARROW   

    See PTPN6 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PTPN6

    SOURCE GeneReport for Unigene cluster: Hs.63489

    UniProtKB/Swiss-Prot: PTN6_HUMAN, P29350
    Tissue specificity: Isoform 1 is expressed in hematopoietic cells. Isoform 2 is expressed in non-hematopoietic
    cells

        SABiosciences Expression via Pathway-Focused PCR Arrays including PTPN6: 
              Protein Phosphatases in human mouse rat
              Antifungal Response in human mouse rat

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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 animals.

    Orthologs for PTPN6 gene from 6/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ptpn61 , 5 protein tyrosine phosphatase, non-receptor type 61, 5 89.11(n)1
    94.47(a)1
      6 (59.17 cM)5
    151701  NM_001077705.11  NP_001071173.11 
     1247207075 
    chicken
    (Gallus gallus)
    Aves PTPN61 protein tyrosine phosphatase, non-receptor type 6 75.17(n)
    81.97(a)
      427947  NM_001031484.1  NP_001026655.1 
    lizard
    (Anolis carolinensis)
    Reptilia PTPN66
    --
    --
    73(a)
    44(a)
    1 ↔ 1
    possible ortholog
    GL343218.1(4832-14630)
    GL343453.1(626173-660743)
    zebrafish
    (Danio rerio)
    Actinopterygii BC044414.12   -- 75.19(n)   335573  BC044414.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta csw6
    corkscrew
    25(a)
    1 → many
    X(1988267-2009734)
    worm
    (Caenorhabditis elegans)
    Secernentea ptp-23 PROTEIN-TYROSINE PHOSPHATASE 36(a)
    (best of 6)
      II(5918677-5920933)   --


    ENSEMBL Gene Tree for PTPN6 (if available)
    TreeFam Gene Tree for PTPN6 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PTPN6 gene
    PTPN12  PTPRH2  PTPN222  PTPRO2  PTPN112  PTPN92  PTPRQ2  PTPRJ2  
    PTPN182  PTPN122  PTPN22  PTPRB2  
    5 SIMAP similar genes for PTPN6 using alignment to 10 protein entries:     PTN6_HUMAN (see all proteins):
    PTPN11    PTPRR    GRAP2    PTPN7    PTPN1

    PTPN6 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) 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

    10/479 SNPs in PTPN6 are shown (see all 479)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs107447211,2
    C,A,H--6917596(+) tagagA/Ttgggg 2 -- us2k13Minor allele frequency- T:0.17NA 6
    rs3726755161,2
    C--6917596(+) TAGAG-/TTGGGGT 2 -- us2k10--------
    rs107447221,2
    C,A,H--6917597(+) agagtG/Tggggt 2 -- us2k12Minor allele frequency- T:0.25NA 4
    rs107350621,2
    C,F,A,H--6917608(+) TTCACC/TATGTT 2 -- us2k16Minor allele frequency- T:0.29NA WA 14
    rs107447231,2
    C,F,A,H--6917621(+) CCAGGC/ATGGTC 2 -- us2k14Minor allele frequency- A:0.38NA WA 8
    rs110644741,2
    C,F,A--6917631(+) CTCGAT/ACTCCT 2 -- us2k15Minor allele frequency- A:0.30NA WA 10
    rs582998831,2
    C,F--6917649(+) TGATCC/TGCCAG 2 -- us2k12Minor allele frequency- T:0.50WA NA 4
    rs614568231,2
    C,F--6917658(+) AGCCTC/TGGCCT 2 -- us2k12Minor allele frequency- T:0.50WA NA 4
    rs110644751,2
    C,F--6917685(+) TACAGG/ACGTGA 2 -- us2k13Minor allele frequency- A:0.50NA WA 6
    rs1881686971,2
    --6917686(+) ACAGGC/TGTGAG 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for PTPN6 (7055631 - 7070479 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for PTPN6:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv509453CNV Insertion20534489
    esv994245CNV Insertion20482838
    nsv513351CNV Insertion21212237
    nsv898641CNV Loss21882294


    Human Gene Mutation Database (HGMD): PTPN6
    SABiosciences Cancer Mutation PCR Assays
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    (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: 176883    OMIM disorders: --

    20/57 diseases for PTPN6 (see all 57):    About MalaCards
    cd45 deficiency    breast adenocarcinoma    polycythemia vera    polycythemia
    measles    alk-positive anaplastic large cell lymphoma    severe congenital neutropenia    hemophagocytic lymphohistiocytosis
    noonan syndrome    langerhans-cell histiocytosis    hairy cell leukemia    histiocytosis
    neutropenia    burkitt's lymphoma    leishmaniasis    acute promyelocytic leukemia
    anaplastic large cell lymphoma    acute leukemia    myeloid leukemia    cutaneous t cell lymphoma


    PTPN6 for disorders           About GeneDecksing

    10/31 Novoseek inferred disease relationships for PTPN6 gene (see all 31)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    myeloid leukemia 32.7 2 11723252 (1), 10227457 (1)
    leukemogenesis 25.9 5 15157317 (1), 11001933 (1), 18948549 (1)
    leukemia 25.4 27 12657462 (3), 14619449 (3), 16780734 (3), 11583976 (2) (see all 13)
    polycythemia 22.5 3 9121771 (1), 9414643 (1)
    polycythemia vera 21.3 4 10390187 (2), 9121771 (1)
    htlv-i infections 20.4 2 9520455 (1)
    lymphoma 19.1 35 19950550 (7), 11583976 (3), 12657462 (3), 14619449 (3) (see all 8)
    lymphoma t-cell 18.8 7 11021818 (4), 10457220 (1), 15870198 (1), 17718411 (1)
    tumors 13 35 14624462 (3), 20090381 (3), 17239936 (2), 11834522 (2) (see all 18)
    leukemia t-cell 11 2 17540846 (1), 14630083 (1)

    Genetic Association Database (GAD): PTPN6
    Human Genome Epidemiology (HuGE) Navigator: PTPN6 (2 documents)

    Export disorders for PTPN6 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 PTPN6 gene, integrated from 9 sources (see all 602):
    (articles sorted by number of sources associating them with PTPN6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human 70-kDa SHP-1L differs from 68-kDa SHP-1 in its C-terminal structure and catalytic activity. (PubMed id 10497187)1, 2, 9 Jin Y.J.... Burakoff S.J. (1999)
    2. The nuclear localization of 3'-phosphoinositide-depen dent kinase-1 is dependent on its association with the protein tyrosine phospha tase SHP-1. (PubMed id 19591923)1, 2, 9 Sephton C.F....Mousseau D.D. (2009)
    3. Functional interaction between SHPTP1 and the Lyn tyrosine kinase in the apoptotic response to DNA damage. (PubMed id 10574931)1, 2, 9 Yoshida K....Kufe D. (1999)
    4. Distinct interactions of the X-linked lymphoproliferative syndrome gene product SAP with cytoplasmic domains of members of the CD2 receptor family. (PubMed id 11414741)1, 2, 9 Lewis J.... Duckett C.S. (2001)
    5. Isolation of a src homology 2-containing tyrosine phosphatase. (PubMed id 1736296)1, 2, 9 Plutzky J.... Rosenberg R.D. (1992)
    6. Crystal structure of human protein-tyrosine phosphatase SHP-1. (PubMed id 12482860)1, 2, 9 Yang J....Zhou G.W. (2003)
    7. Molecular cloning and characterization of SPAP1, an inhibitory receptor. (PubMed id 11162587)1, 2, 9 Xu M.-J.... Zhao Z.J. (2001)
    8. Crystal structure of the catalytic domain of protein-tyrosine phosphatase SHP-1. (PubMed id 9774441)1, 2, 9 Yang J.... Zhou G.W. (1998)
    9. Tyrosine phosphorylation of an SH2-containing protein tyrosine phosphatase is coupled to platelet thrombin receptor via a pertussis toxin-sensitive heterotrimeric G-protein. (PubMed id 7781604)1, 2, 9 Li R.Y.... Chap H. (1995)
    10. A protein-tyrosine phosphatase with sequence similarity to the SH2 domain of the protein-tyrosine kinases. (PubMed id 1652101)1, 2, 9 Shen S.H.... Chretien P. (1991)

    (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: 5777 HGNC: 9658 AceView: PTPN6 Ensembl:ENSG00000111679 euGenes: HUgn5777
    ECgene: PTPN6 Kegg: 5777 H-InvDB: PTPN6

    (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 PTPN6 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for PTPN6 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 PTPN6 gene:
    Search GeneIP for patents involving PTPN6

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

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