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

PTPN6 Gene

protein-coding   GIFtS: 72
GCID: GC12P007055

protein tyrosine phosphatase, non-receptor type 6

 Explore 56 diseases affiliated with
PTPN6 via our new
 Human Malady Compendium 
Biological research products
for PTPN6
    

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

Aliases
Protein Tyrosine Phosphatase, Non-Receptor Type 61 2     Protein-Tyrosine Phosphatase SHP-12 3
HCP1 2 3     SH-PTP12 3
PTP-1C1 2 3     EC 3.1.3.483 8
HCPH1 2     HPTP1C2
SHP-11 2     SHP-1L2
SHP11 2     Hematopoietic Cell Phosphatase2
Hematopoietic Cell Protein-Tyrosine Phosphatase2 3     Tyrosine-Protein Phosphatase Non-Receptor Type 62
Protein-Tyrosine Phosphatase 1C2 3     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:
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)

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:
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


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.1  NT_009759.16  
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 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: 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
6/10 PDB 3D structures from and Proteopedia for PTPN6 (see all 10):
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

Post-translational modifications:

  • Phosphorylated on tyrosine residues. Binding of KITLG/SCF to KIT increases tyrosine phosphorylation (By similarity).
  • Phosphorylation at Tyr-564 enhances phosphatase activity1
  • View modification sites using PhosphoSitePlus2
  • 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 MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000443393   ENSP00000444805   ENSP00000382376   ENSP00000438740   ENSP00000326010  
     ENSP00000444337   ENSP00000441044   ENSP00000445646   ENSP00000440114   ENSP00000446345  
     ENSP00000415979   ENSP00000391592  
    Reactome Protein details: P29350
    Human Recombinant Protein Products: 
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    Novus Biologicals PTPN6 Proteins
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    ProSpec Recombinant Protein for PTPN6
    Uscn Proteins for PTPN6

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005634nucleus IDA--
    GO:0005737cytoplasm IDA10940933
    GO:0005829cytosol TAS--
    GO:0016020membrane TAS10506221


    PTPN6 for ontologies           About GeneDecksing



    PTPN6 Antibody Products: 
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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    PTPN6 for domains           About GeneDecksing

    5 InterPro domains/families:
     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 families:
    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


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

    Function Summary:

         UniProtKB/Swiss-Prot: 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

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    Inhib. RNA
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    Gene Ontology (GO): 5/9 molecular function terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001784phosphotyrosine binding ----
    GO:0004725protein tyrosine phosphatase activity TAS--
    GO:0004872receptor activity ----
    GO:0005001transmembrane receptor protein tyrosine phosphatase activity IDA11266449
    GO:0005515protein binding IPI18802077


    PTPN6 for ontologies           About GeneDecksing


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

    Animal Models:
         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


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

    Unified GeneCards pathways - 5/47 super-pathways (see all 47About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Interleukin receptor SHC signaling
    Interleukin receptor SHC signaling1.00
    Interleukin-3, 5 and GM-CSF signaling0.57
    Interleukin-2 signaling0.67
    Signaling by Interleukins0.25
    2Immune response CD16 signaling in NK cells
    Immune response CD16 signaling in NK cells1.00
    Immune response_Role of DAP12 receptors in NK cells0.32
    Immune response_CD16 signaling in NK cells0.99
    Immune response Role of DAP12 receptors in NK cells0.32
    3Immune response_IL-2 activation and signaling pathway
    Immune response IL-2 activation and signaling pathway1.00
    Immune response_IL-3 activation and signaling pathway0.41
    Immune response_IL-2 activation and signaling pathway1.00
    Immune response IL-3 activation and signaling pathway0.41
    4Development Thrombopoetin signaling via JAK-STAT pathway
    Development_Thrombopoetin signaling via JAK-STAT pathway1.00
    Jak/Stat Pathway0.29
    Development Thrombopoetin signaling via JAK-STAT pathway1.00
    5Regulation of IFNA signaling
    Regulation of IFNA signaling1.00
    Immune response IFN alpha/beta signaling pathway0.71
    Immune response_IFN alpha/beta signaling pathway0.71

    Pathway sources
    See GeneCards unified pathways
    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

    5/16 BioSystems Pathways for PTPN6 (see all 16
        EGFR1 Signaling Pathway
    Kit Receptor Signaling Pathway
    IL-2 Signaling Pathway
    IL-5 Signaling Pathway
    IL-4 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


    5/6         Kegg Pathways  (Kegg details for PTPN6) (see all 6):
        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)

    5/220 Interacting proteins for PTPN6 (P293501, 2, 3 ENSP000003915924) via UniProtKB, MINT, STRING, and/or I2D (see all 220)
    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
    CD33P201382, 3, ENSP000002622624MINT-8033935 MINT-8033882 MINT-8033951 MINT-8031385 MINT-8033908 I2D: score=5 STRING: ENSP00000262262
    LAIR1Q6GTX82, 3, ENSP000003756224MINT-8033852 MINT-8038190 MINT-8033867 MINT-8038175 I2D: score=6 STRING: ENSP00000375622
    FCGR2BP319942, 3, ENSP000003514974MINT-74919 MINT-8025643 MINT-8025659 I2D: score=3 STRING: ENSP00000351497
    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 ----
    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, 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 #
    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 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 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    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
    18/25 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 25):
    ENST00000543115 ENST00000544354 ENST00000542848 ENST00000543120 ENST00000399448(uc001qsa.1 uc010sfr.1)
    ENST00000534900 ENST00000538318 ENST00000538715 ENST00000318974 ENST00000543744
    ENST00000540740 ENST00000416215(uc010sfs.1) ENST00000545153 ENST00000536521
    ENST00000535462 ENST00000541698 ENST00000542462 ENST00000542277

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    Inhib. RNA
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    Additional cDNA 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:

    NM_002831 NM_080548 CR590933 BC002523 NM_080549 BC007667 M77273 M74903 
    BT007390 AF178946 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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CCTCAGCCCT

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

    About this image

    PTPN6 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Extraembryonic MesodermExtraembryonic Capillary PlexusExtraembryonic AngioblastsEndothelium
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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: 
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              Antifungal Response in human mouse rat

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PTPN6

    (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 5/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    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
    --
    --
    74(a)
    32(a)
    1 ↔ 1
    possible ortholog
    GL343218.1(4868-14340)
    GL343453.1(628363-660743)
    zebrafish
    (Danio rerio)
    Actinopterygii BC044414.12   -- 75.19(n)   335573  BC044414.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta csw6
    corkscrew
    25(a)
    possible ortholog
    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
    PTPN72  PTPRH2  PTPN222  PTPRO2  PTPN112  PTPRJ2  PTPRQ2  PTPN182  
    PTPN122  PTPN52  PTPRB2  PTPRR2  
    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, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/354 NCBI SNPs in PTPN6 are shown (see all 354    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1130473711,2
    C,--6917689(+) GGCGTG/AAGCCA 2 -- us2k11Minor allele frequency- A:0.50WA 2
    rs1119131951,2
    C,F--6917696(+) GCCACC/TGCGCC 2 -- us2k13Minor allele frequency- T:0.50NA WA 6
    rs584961471,2
    C,--6917958(+) CCTGTT/CGAGCT 2 -- us2k12Minor allele frequency- C:0.08WA 120
    rs454638991,2
    C,--6918083(+) AGCCAT/CGGTGA 2 -- us2k12Minor allele frequency- C:0.08WA 120
    rs771445951,2
    F,--6918150(+) GGCAGA/GGGCCT 2 -- us2k11Minor allele frequency- G:0.04WA 118
    rs777900461,2
    C,F,--6918280(+) TCTTGC/AAAGCA 2 -- us2k11Minor allele frequency- A:0.03WA 118
    rs732628851,2
    C,F,--6918832(+) CAGACG/ATGTGG 2 -- us2k13Minor allele frequency- A:0.14WA CSA 122
    rs784166561,2
    C,F,--6919125(+) CTCTCC/TGGAAG 2 -- ut511Minor allele frequency- T:0.03EA 120
    rs115478531,2
    C--6919309(+) CTTCCT/CGGCTC 4 /P /L mis1 ese32Minor allele frequency- C:0.00NA 4
    rs750828621,2
    --6920179(+) TCCTCC/TGTCTG 2 -- int12Minor allele frequency- T:0.12CSA WA 119

    HapMap Linkage Disequilibrium report for PTPN6 (7055631 - 7070479 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for PTPN6: --
    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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    PTPN6 for disorders           About GeneDecksing

    OMIM gene information: 176883    OMIM disorders: --

    20/56 diseases for PTPN6 (see all 56):    About MalaCards
    langerhans-cell histiocytosis    polycythemia vera    hemophagocytic lymphohistiocytosis    anaplastic large cell lymphoma
    severe congenital neutropenia    myeloid leukemia    polycythemia    lupus erythematosus
    burkitt's lymphoma    b-cell lymphomas    hairy cell leukemia    systemic lupus erythematosus
    acute promyelocytic leukemia    leukemia    histiocytosis    noonan syndrome
    chronic myeloid leukemia    lymphoblastic leukemia    acute myeloid leukemia    neutropenia

    10/31 Novoseek 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 594):
    (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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, 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),
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    About This Section

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