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PTPN11 Gene

protein-coding   GIFtS: 76
GCID: GC12P112856

Protein Tyrosine Phosphatase, Non-Receptor Type 11

(Previous name: Noonan syndrome 1)
(Previous symbol: NS1)
  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)
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Aliases
Protein Tyrosine Phosphatase, Non-Receptor Type 111 2     EC 3.1.3.483 8
NS11 2 5     SHP22 5
PTP2C2 3 5     Noonan Syndrome 11
Protein-Tyrosine Phosphatase 1D2 3     BPTP32
Protein-Tyrosine Phosphatase 2C2 3     CFC2
PTP-1D2 3     Tyrosine-Protein Phosphatase Non-Receptor Type 112
PTP-2C2 3     SHP-23
SH-PTP22 3     SHPTP23
SH-PTP32 3     Shp23

External Ids:    HGNC: 96441   Entrez Gene: 57812   Ensembl: ENSG000001792957   OMIM: 1768765   UniProtKB: Q061243   

Export aliases for PTPN11 gene to outside databases

Previous GC identifers: GC12P111712 GC12P112333 GC12P112639 GC12P111268 GC12P111319 GC12P109868


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for PTPN11 Gene:
The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to
be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation,
mitotic cycle, and oncogenic transformation. This PTP contains two tandem Src homology-2 domains, which function
as phospho-tyrosine binding domains and mediate the interaction of this PTP with its substrates. This PTP is
widely expressed in most tissues and plays a regulatory role in various cell signaling events that are important
for a diversity of cell functions, such as mitogenic activation, metabolic control, transcription regulation, and
cell migration. Mutations in this gene are a cause of Noonan syndrome as well as acute myeloid leukemia. Two
transcript variants encoding different isoforms have been found for this gene. (provided by RefSeq, May 2012)

GeneCards Summary for PTPN11 Gene:
PTPN11 (protein tyrosine phosphatase, non-receptor type 11) is a protein-coding gene. Diseases associated with PTPN11 include ptpn11-related noonan syndrome, and ptpn11-related leopard syndrome. GO annotations related to this gene include SH3/SH2 adaptor activity and protein domain specific binding. An important paralog of this gene is PTPN1.

UniProtKB/Swiss-Prot: PTN11_HUMAN, Q06124
Function: Acts downstream of various receptor and cytoplasmic protein tyrosine kinases to participate in the
signal transduction from the cell surface to the nucleus. Dephosphorylates ROCK2 at Tyr-722 resulting in
stimulatation of its RhoA binding activity

summary for PTPN11 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 PTPN11 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000012.12  NT_029419.13  NC_018923.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PTPN11 gene promoter:
         AP-2alpha isoform 3   STAT3   AP-2alpha isoform 4   AP-2alpha isoform 2   AP-2alpha   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPTPN11 promoter sequence
   Search Chromatin IP Primers for PTPN11

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PTPN11


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

Entrez Gene cytogenetic band: 12q24   Ensembl cytogenetic band:  12q24.13   HGNC cytogenetic band: 12q24.1

PTPN11 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PTPN11 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P112856:  view genomic region     (about GC identifiers)

Start:
112,856,155 bp from pter      End:
112,947,717 bp from pter
Size:
91,563 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: PTN11_HUMAN, Q06124 (See protein sequence)
Recommended Name: Tyrosine-protein phosphatase non-receptor type 11  
Size: 597 amino acids; 68436 Da
Subunit: Interacts with phosphorylated LIME1 and BCAR3. Interacts with SHB and INPP5D/SHIP1 (By similarity).
Interacts with MILR1 (tyrosine-phosphorylated). Interacts with FLT1 (tyrosine-phosphorylated), FLT3
(tyrosine-phosphorylated), FLT4 (tyrosine-phosphorylated), KIT and GRB2. Interacts with PDGFRA (tyrosine
phosphorylated). Interacts (via SH2 domain) with TEK/TIE2 (tyrosine phosphorylated) (By similarity). Interacts
with PTPNS1 and CD84. Interacts with phosphorylated SIT1 and MPZL1. Interacts with FCRL3, FCRL4, FCRL6 and
ANKHD1. Interacts with KIR2DL1; the interaction is enhanced by ARRB2. Interacts with GAB2. Interacts with TERT;
the interaction retains TERT in the nucleus. Interacts with PECAM1 and FER. Interacts with EPHA2 (activated);
participates in PTK2/FAK1 dephosphorylation in EPHA2 downstream signaling. Interacts with ROS1; mediates PTPN11
phosphorylation. Interacts with PDGFRB (tyrosine phosphorylated); this interaction increases the PTPN11
phosphatase activity. Interacts with GAREM isoform 1 (tyrosine phosphorylated); the interaction increases
MAPK/ERK activity and does not affect the GRB2/SOS complex formation
Selected PDB 3D structures from and Proteopedia for PTPN11 (see all 13):
2SHP (3D)        3B7O (3D)        3MOW (3D)        3O5X (3D)        3TKZ (3D)        3TL0 (3D)    
Secondary accessions: A8K1D9 Q96HD7
Alternative splicing: 3 isoforms:  Q06124-1   Q06124-2   Q06124-3   

Explore the universe of human proteins at neXtProt for PTPN11: NX_Q06124

Explore proteomics data for PTPN11 at MOPED

Post-translational modifications: 

  • Phosphorylated on Tyr-546 and Tyr-584 upon receptor protein tyrosine kinase activation; which creates a binding
    site for GRB2 and other SH2-containing proteins. Phosphorylated upon activation of the receptor-type kinase FLT3.
    Phosphorylated upon activation of the receptor-type kinase PDGFRA (By similarity). Phosphorylated by activated
    PDGFRB1
  • Ubiquitination2 at Lys594
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for PTPN11 (Q06124) (see all 20)
     WPDHGVP  SRRWFHP  DPTSERW  VVHCSAG 


    See PTPN11 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_002825.3  NP_542168.1  

    ENSEMBL proteins: 
     ENSP00000376376   ENSP00000340944   ENSP00000437013  
    Reactome Protein details: Q06124

    PTPN11 Human Recombinant Protein Products:

    EMD Millipore Purified and/or Recombinant PTPN11 Protein
    R&D Systems Recombinant & Natural Proteins for PTPN11 (SHP-2)
    Enzo Life Sciences proteins for PTPN11
    OriGene Purified Protein for PTPN11
    Browse OriGene Protein Over-expression Lysates
    OriGene MassSpec for PTPN11
    OriGene Custom Protein Services for PTPN11
    GenScript Custom Purified and Recombinant Proteins Services for PTPN11
    Novus Biologicals PTPN11 Proteins
    Novus Biologicals PTPN11 Lysates
    Sino Biological Recombinant Protein for PTPN11
    Sino Biological Cell Lysate for PTPN11
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PTPN11

    PTPN11 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of PTPN11
    R&D Systems Antibodies for PTPN11 (SHP-2)
    Cell Signaling Technology (CST) Antibodies for PTPN11  (SHP-2)
    OriGene Antibodies for PTPN11
    OriGene Custom Antibody Services for PTPN11
    Novus Biologicals PTPN11 Antibodies
    Abcam antibodies for PTPN11
    Cloud-Clone Corp. Antibodies for PTPN11
    ThermoFisher Antibody for PTPN11
    LSBio Antibodies in human, mouse, rat for PTPN11

    PTPN11 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for PTPN11
    R&D Systems ELISAs for PTPN11 (SHP-2)         (see all)
    GenScript Custom Assay Services for PTPN11
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for PTPN11
    Cloud-Clone Corp. CLIAs for PTPN11


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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 Q06124

    ProtoNet protein and cluster: Q06124

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


    UniProtKB/Swiss-Prot: PTN11_HUMAN, Q06124
    Domain: The SH2 domains repress phosphatase activity. Binding of these domains to phosphotyrosine-containing
    proteins relieves this auto-inhibition, possibly by inducing a conformational change in the enzyme
    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


    PTPN11 for domains           About GeneDecksing


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

         UniProtKB/Swiss-Prot Summary: PTN11_HUMAN, Q06124
    Function: Acts downstream of various receptor and cytoplasmic protein tyrosine kinases to participate in the
    signal transduction from the cell surface to the nucleus. Dephosphorylates ROCK2 at Tyr-722 resulting in
    stimulatation of its RhoA binding activity
    Catalytic activity: Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphate

         Genatlas biochemistry entry for PTPN11:
    protein tyrosine phosphatase,non receptor type 11,with two SH2 domains,expressed in heart,brain,skeletal muscle
    with homology to Drosophila corkscrew,involved in intracellular signal transduction in response to
    PDGF,EGF,insulin,interacting with protein zero related (PZR) for cell signaling,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): Selected molecular function terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004721phosphoprotein phosphatase activity IDA15133037
    GO:0004725protein tyrosine phosphatase activity TAS--
    GO:0004726non-membrane spanning protein tyrosine phosphatase activity TAS--
    GO:0005070SH3/SH2 adaptor activity IDA7493946
    GO:0005158insulin receptor binding IPI7493946
         
    PTPN11 for ontologies           About GeneDecksing


    Phenotypes:
         4 GenomeRNAi human phenotypes for PTPN11:
     Decreased focal adhesion (FA)   Increased cell death in breast  Increased cell number in G2M,   Upregulation of Wnt/beta-caten 

         Selected MGI mutant phenotypes (inferred from 16 alleles(MGI details for Ptpn11) (see all 26):
     adipose tissue  cardiovascular system  cellular  craniofacial  digestive/alimentary 
     embryogenesis  endocrine/exocrine gland  growth/size/body  hearing/vestibular/ear  hematopoietic system 
     homeostasis/metabolism  immune system  integument  limbs/digits/tail  liver/biliary system 

    PTPN11 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for PTPN11: Ptpn11tm1Rbn Ptpn11tm2Bgn Ptpn11tm1.2Cbm Ptpn11tm1Paw

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PTPN11
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for PTPN11

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PTPN11
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PTPN11

    miRNA
    Products:
        
    miRTarBase miRNAs that target PTPN11:
    hsa-mir-23a-3p (MIRT007150), hsa-mir-489-3p (MIRT003549), hsa-mir-183-5p (MIRT047153), hsa-mir-320a (MIRT044548), hsa-mir-130b-5p (MIRT038301), hsa-mir-181a-5p (MIRT006482), hsa-mir-124-3p (MIRT022573), hsa-mir-218-5p (MIRT024234), hsa-mir-193b-3p (MIRT041308)

    Block miRNA regulation of human, mouse, rat PTPN11 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PTPN11 (see all 92):
    hsa-miR-26a-2* hsa-miR-607 hsa-miR-1260b hsa-miR-374a hsa-miR-578 hsa-miR-138-2* hsa-miR-3916 hsa-miR-489
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for PTPN11
    Predesigned siRNA for gene silencing in human, mouse, rat PTPN11

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for PTPN11

    Clone
    Products:
         
    OriGene clones in human, mouse for PTPN11 (see all 7)
    OriGene ORF clones in mouse, rat for PTPN11
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: PTPN11 (NM_002834)
    Sino Biological Human cDNA Clone for PTPN11
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PTPN11
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PTPN11

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for PTPN11
    Browse ESI BIO Cell Lines and PureStem Progenitors for PTPN11 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PTPN11


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PTN11_HUMAN, Q06124: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol4
    cytoskeleton3
    plasma membrane3
    endoplasmic reticulum2
    extracellular2
    mitochondrion2
    peroxisome1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA15133037
    GO:0005737cytoplasm IDA10940933
    GO:0005739mitochondrion IEA--
    GO:0005829cytosol TAS--
    GO:0043234protein complex IEA--

    PTPN11 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for PTPN11 About   (see all 89)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Development HGF signaling pathway
    Development Neurotrophin family signaling0.45
    Signaling of Hepatocyte Growth Factor Receptor0.35
    Neurotrophin signaling pathway0.36
    2FGFR ligand binding and activation
    FRS2-mediated cascade0.70
    Development FGF family signaling0.43
    Negative regulation of FGFR signaling0.56
    Spry regulation of FGF signaling0.00
    3Immune response IFN alpha beta signaling pathway
    Immune response IFN alpha beta signaling pathway0.69
    Interferon alpha/beta signaling0.43
    Regulation of IFNA signaling0.69
    4Translation Insulin regulation of translation
    Development CNTF receptor signaling0.43
    ErbB2/ErbB3 signaling events0.31
    Development Growth hormone signaling via PI3K AKT and MAPK cascades0.34
    5Prolactin Signaling Pathway
    Development Prolactin receptor signaling0.39
    Leptin signaling pathway0.35
    Prolactin Signaling Pathway0.39

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 R&D Systems Pathways for PTPN11
        Adipocytokines & Insulin Signaling
    Pathogen or Damage-activated C-Type Lectin Receptor Signaling Pathways
    VEGF - VEGF R2 Signaling Pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for PTPN11
        Epithelial Adherens Junctions

    3 Cell Signaling Technology (CST) Pathways for PTPN11
        Phosphatases
    MAP Kinase Signaling
    Apoptosis and Autophagy

    Selected GeneGo (Thomson Reuters) Pathways for PTPN11 (see all 24)
        Development Leptin signaling via JAK/STAT and MAPK cascades
    Development FGF-family signaling
    Development CNTF receptor signaling
    Development Thrombopoetin signaling via JAK-STAT pathway
    Chemotaxis CXCR4 signaling pathway

    Selected BioSystems Pathways for PTPN11 (see all 47)
        Heart Development
    EGFR1 Signaling Pathway
    Insulin Signaling
    Type II interferon signaling (IFNG)
    Oncostatin M Signaling Pathway


    Selected Reactome Pathways for PTPN11 (see all 26)
        Regulation of IFNA signaling
    Interferon alpha/beta signaling
    Costimulation by the CD28 family
    Prolactin receptor signaling
    FRS2-mediated cascade


    Selected Kegg Pathways  (Kegg details for PTPN11) (see all 11):
        Ras signaling pathway
    Jak-STAT signaling pathway
    Natural killer cell mediated cytotoxicity
    Leukocyte transendothelial migration
    Neurotrophin signaling pathway


    PTPN11 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including PTPN11: 
              Multiple Sclerosis in human mouse rat
              PI3K-AKT Signaling Pathway in human mouse rat
              Protein Phosphatases in human mouse rat
              Huntington's Disease in human mouse rat
              JAK / STAT Signaling Pathway in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for PTPN11

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

    Selected Interacting proteins for PTPN11 (Q061241, 2, 3 ENSP000003409444) via UniProtKB, MINT, STRING, and/or I2D (see all 399)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000234078Q083451, 2, 3, ENSP000004013974EBI-297779,EBI-711879 MINT-74882 MINT-74883 MINT-74885 MINT-8035995 I2D: score=3 STRING: ENSP00000401397
    ENSG00000137332Q083451, 2, 3EBI-297779,EBI-711879 MINT-74882 MINT-74883 MINT-74885 MINT-8035995 I2D: score=3 
    ENSG00000215522Q083451, 2, 3EBI-297779,EBI-711879 MINT-74882 MINT-74883 MINT-74885 MINT-8035995 I2D: score=3 
    ENSG00000230456Q083451, 2, 3EBI-297779,EBI-711879 MINT-74882 MINT-74883 MINT-74885 MINT-8035995 I2D: score=3 
    GAB1Q134801, 2, 3, ENSP000002629954EBI-297779,EBI-517684 MINT-6169355 MINT-6169300 MINT-6169451 MINT-6169344 MINT-8025571 MINT-8029574 MINT-6169406 MINT-6169374 MINT-8029606 MINT-8288652 MINT-8025555 MINT-7026140 MINT-6169338 MINT-6169389 MINT-6169309 MINT-6169327 MINT-6169291 MINT-8029590 I2D: score=10 STRING: ENSP00000262995
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 47):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000077DNA damage checkpoint IEA--
    GO:0000187activation of MAPK activity IEA--
    GO:0006470protein dephosphorylation ----
    GO:0006629lipid metabolic process ----
    GO:0006641triglyceride metabolic process IEA--

    PTPN11 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

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    Browse Small Molecules at EMD Millipore
       Enzo Life Sciences drugs & compounds for PTPN11
      Browse compounds at ApexBio 

    Compounds for PTPN11 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 PTPN11    About this table
    CompoundSynonyms CAS #PubMed Ids
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    1 DrugBank Compound for PTPN11    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Dodecane-Trimethylamine-- --target--17139284 17016423 10592235

    Selected Novoseek inferred chemical compound relationships for PTPN11 gene (see all 59)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tyrosine 89.3 917 9129156 (6), 9582366 (6), 7629070 (6), 19275884 (5) (see all 99)
    phosphotyrosine 82 54 12731888 (2), 11684012 (2), 7681217 (1), 8890167 (1) (see all 41)
    gp 130 72.8 61 10946280 (4), 12593670 (4), 9285712 (3), 12403768 (3) (see all 26)
    phosphatidylinositol 69.5 62 9632795 (3), 8647870 (3), 9565634 (2), 10397152 (2) (see all 45)
    phenylalanine 47.8 12 8622663 (1), 8943348 (1), 9756938 (1), 8959326 (1) (see all 10)
    phenylarsine oxide 47.7 2 7935386 (1)
    inositol 46.3 17 10651806 (1), 11709085 (1), 10623804 (1), 17984366 (1) (see all 16)
    ly294002 44.4 2 14762163 (1), 11335710 (1)
    sodium orthovanadate 42.6 1 10540326 (1)
    echistatin 41.1 5 12399420 (3), 16195423 (1)



    PTPN11 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for PTPN11 gene (2 alternative transcripts): 
    NM_002834.3  NM_080601.1  

    Unigene Cluster for PTPN11:

    Protein tyrosine phosphatase, non-receptor type 11
    Hs.506852  [show with all ESTs]
    Unigene Representative Sequence: NM_002834
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000531326 ENST00000392597(uc001ttw.1) ENST00000351677(uc001ttx.3)
    ENST00000530818
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate PTPN11 (see all 92):
    hsa-miR-26a-2* hsa-miR-607 hsa-miR-1260b hsa-miR-374a hsa-miR-578 hsa-miR-138-2* hsa-miR-3916 hsa-miR-489
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    Additional mRNA sequence: 

    AK289854.1 AK312147.1 BC007869.2 BC008692.1 BC025181.1 BC030949.1 BT007106.1 BX537632.1 
    D13540.1 EU779706.1 EU779707.1 EU779708.1 L03535.1 L07527.1 L08807.1 S78088.1 
    U79291.1 X70766.1 

    18 DOTS entries:

    DT.411692  DT.99944225  DT.91769243  DT.100733832  DT.100656212  DT.121153732  DT.95354784  DT.121153765 
    DT.120647580  DT.70100615  DT.95127024  DT.100783460  DT.121153563  DT.121153748  DT.91871508  DT.92421803 
    DT.120843678  DT.99974908 

    Selected AceView cDNA sequences (see all 1484):

    BG898041 BU526614 AW405946 AI967970 F27501 AA374206 CF128365 BX114871 
    BI227225 CR603976 AA307193 BM705443 BM473884 AA360905 BE394537 CR599701 
    BU185398 BE383217 CB149157 AA644222 BF589532 CA941003 BE888230 BM802399 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    PTPN11 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAAATGTTGA
    PTPN11 Expression
    About this image


    PTPN11 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    PTPN11 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PTPN11 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.506852

    UniProtKB/Swiss-Prot: PTN11_HUMAN, Q06124
    Tissue specificity: Widely expressed, with highest levels in heart, brain, and skeletal muscle

        Pathway & Disease-focused RT2 Profiler PCR Arrays including PTPN11: 
              Multiple Sclerosis in human mouse rat
              PI3K-AKT Signaling Pathway in human mouse rat
              Protein Phosphatases in human mouse rat
              Huntington's Disease in human mouse rat
              JAK / STAT Signaling Pathway 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)
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    This gene was present in the common ancestor of animals.

    Orthologs for PTPN11 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ptpn111 , 5 protein tyrosine phosphatase, non-receptor type 111, 5 87.24(n)1
    99.49(a)1
      5 (61.72 cM)5
    192471  NM_011202.31  NP_035332.11 
     1211305335 
    chicken
    (Gallus gallus)
    Aves PTPN111 protein tyrosine phosphatase, non-receptor type 11 85.33(n)
    98.31(a)
      395815  NM_204968.1  NP_990299.1 
    lizard
    (Anolis carolinensis)
    Reptilia PTPN116
    protein tyrosine phosphatase, non-receptor type 11...
    97(a)
    1 ↔ 1
    GL343282.1(325794-344135)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.9362 Xenopus laevis phosphotyrosyl-protein phosphatase mRNA, more 82.68(n)    U15287.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufi24f032 wufi24f03 78.16(n)   333979  BC045328.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta csw1 , 3 EGF receptor signaling pathway protein
    tyrosine more3
    corkscrew1
    66(a)3
    61.59(n)1
    66.8(a)1
      452781  NM_001272245.11  NP_001259174.11 
    worm
    (Caenorhabditis elegans)
    Secernentea ptp-23 PROTEIN-TYROSINE PHOSPHATASE 37(a)
    (best of 3)
      II(5918677-5920933)   --


    ENSEMBL Gene Tree for PTPN11 (if available)
    TreeFam Gene Tree for PTPN11 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PTPN11 gene
    PTPN12  PTPN222  PTPN92  PTPN62  PTPRN22  PTPRN2  PTPN142  PTPN212  
    PTPN20B2  PTPN22  PTPN122  PTPN182  PTPN20A2  
    18 SIMAP similar genes for PTPN11 using alignment to 6 protein entries:     PTN11_HUMAN (see all proteins):
    PTPN6    GRB2    NCK1    GRAP2    VAV3    SHF
    RASA1    CLNK    CSK    VAV1    PIK3R3    SH2B2
    HCK    SHC4    MATK    FYN    LCK    SYK

    PTPN11 for paralogs           About GeneDecksing


    Selected Pseudogenes.org Pseudogenes for PTPN11 (see all 6)
    PGOHUM00000244574 PGOHUM00000237709 PGOHUM00000245615 PGOHUM00000235162 PGOHUM00000243393


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PTPN11 (see all 1464)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0271864
    Noonan syndrome 1 (NS1)4--see VAR_0271862 Q P mis40--------
    VAR_0156184
    Noonan syndrome 1 (NS1)4--see VAR_0156182 N S mis40--------
    VAR_0660604
    Noonan syndrome 1 (NS1)4--see VAR_0660602 T A mis40--------
    VAR_0156224
    Noonan syndrome 1 (NS1)4--see VAR_0156222 R K mis40--------
    VAR_0156074
    Noonan syndrome 1 (NS1)4--see VAR_0156072 A G mis40--------
    VAR_0156174
    Noonan syndrome 1 (NS1)4--see VAR_0156172 F L mis40--------
    VAR_0271974
    Noonan syndrome 1 (NS1)4--see VAR_0271972 L F mis40--------
    VAR_0156234
    Noonan syndrome 1 (NS1)4--see VAR_0156232 S T mis40--------
    VAR_0156044
    Noonan syndrome 1 (NS1)4--see VAR_0156042 D N mis40--------
    VAR_0271934
    LEOPARD syndrome 1 (LEOPARD1)4--see VAR_0271932 R W mis40--------

    HapMap Linkage Disequilibrium report for PTPN11 (112856155 - 112947717 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for PTPN11:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2746369CNV Deletion23290073
    esv2661618CNV Deletion23128226
    nsv889CNV Loss18451855
    nsv899524CNV Gain21882294

    Human Gene Mutation Database (HGMD): PTPN11
    Selected Site Specific Mutation Identification with PCR Assays for PTPN11 (see all 16):
    Cosmic IdAA Change
    13014p.A72T
    13026p.E76A
    13000p.E76K
    13025p.E76V
    13020p.S502P
    Selected Site Specific Cancer Mutation PCR Panels containing PTPN11 (see all 6):
    Tyrosine Kinases & Cell Signaling Pathways Panel 384HT
    Lymphoid Neoplasms
    Hematopoietic Neoplasms
    c-MET
    Cancer Comprehensive Panel 384HT
    SeqTarget long-range PCR primers for resequencing PTPN11
    DNA2.0 Custom Variant and Variant Library Synthesis for PTPN11

    (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.)
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    OMIM gene information: 176876   
    OMIM disorders: 163950  151100  607785  156250  
    UniProtKB/Swiss-Prot: PTN11_HUMAN, Q06124
  • LEOPARD syndrome 1 (LEOPARD1) [MIM:151100]: A disorder characterized by lentigines, electrocardiographic
    conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormalities of genitalia, retardation of
    growth, and sensorineural deafness. Note=The disease is caused by mutations affecting the gene represented in
    this entry
  • Noonan syndrome 1 (NS1) [MIM:163950]: A form of Noonan syndrome, a disease characterized by short
    stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated
    ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can
    include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits,
    multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk
    of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of
    myelomonocytic cells. Some patients with NS1 develop multiple giant cell lesions of the jaw or other bony or soft
    tissues, which are classified as pigmented villonodular synovitis (PVNS) when occurring in the jaw or joints.
    Note=The disease is caused by mutations affecting the gene represented in this entry. Mutations in PTPN11 account
    for more than 50% of the cases
  • Leukemia, juvenile myelomonocytic (JMML) [MIM:607785]: An aggressive pediatric myelodysplastic
    syndrome/myeloproliferative disorder characterized by malignant transformation in the hematopoietic stem cell
    compartment with proliferation of differentiated progeny. Patients have splenomegaly, enlarged lymph nodes,
    rashes, and hemorrhages. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Metachondromatosis (MC) [MIM:156250]: A skeletal disorder with radiologic features of both multiple
    exostoses and Ollier disease, characterized by the presence of exostoses, commonly of the bones of the hands and
    feet, and enchondromas of the metaphyses of long bones and iliac crest. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • Selected diseases for PTPN11 (see all 119):    
    About MalaCards
    ptpn11-related noonan syndrome    ptpn11-related leopard syndrome    leopard syndrome 1    dengue hemorrhagic fever
    metachondromatosis    noonan syndrome 1    leopard syndrome    neurofibromatosis-noonan syndrome
    noonan-like/multiple giant cell lesion syndrome    noonan syndrome 5    noonan syndrome    pulmonary valve stenosis
    juvenile myelomonocytic leukemia    cherubism    neurofibromatosis    hydrops fetalis
    myeloid leukemia    influenza    cardiofaciocutaneous syndrome    ollier disease

    10 diseases from the University of Copenhagen DISEASES database for PTPN11:
    Noonan syndrome     LEOPARD syndrome     Juvenile myelomonocytic leukemia     Pulmonary valve stenosis
    Costello syndrome     Diabetes mellitus     Hypertrophic cardiomyopathy     Congenital heart defect
    Leukemia     Hypersensitivity reaction type II disease

    PTPN11 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for PTPN11 gene (see all 85)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    noonan syndrome 96.2 192 17020470 (4), 18348260 (4), 12161469 (4), 15985475 (3) (see all 99)
    leopard syndrome 93.4 63 15690106 (4), 16679933 (3), 14991917 (3), 16208280 (2) (see all 38)
    juvenile myelomonocytic leukemia 90.3 32 15928039 (2), 15604238 (2), 12717436 (2), 15211660 (2) (see all 26)
    cfc syndrome 88.7 10 18651097 (2), 12384786 (2), 12529707 (2), 20052757 (1) (see all 6)
    neurofibromatosis-noonan syndrome 82.8 3 17020470 (2), 19449407 (1)
    lentigines 79.1 5 19582499 (1), 15470362 (1), 16733669 (1), 18470943 (1) (see all 5)
    short stature 77.6 15 15985475 (1), 16498234 (1), 16804314 (1), 20383758 (1) (see all 15)
    heart defects congenital 70.3 12 18203203 (3), 16461457 (2), 12960218 (1), 20461756 (1) (see all 9)
    pulmonary valve stenosis 66.1 6 11992261 (1), 18678287 (1), 12522798 (1), 17515436 (1) (see all 5)
    x-linked lymphoproliferative syndrome 65.1 1 11313386 (1)

    GeneTests: PTPN11
    GeneReviews: PTPN11
    Genetic Association Database (GAD): PTPN11
    Human Genome Epidemiology (HuGE) Navigator: PTPN11 (48 documents)

    Export disorders for PTPN11 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for PTPN11 gene, integrated from 10 sources (see all 1248):
    (articles sorted by number of sources associating them with PTPN11)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome. (PubMed id 19020799)1, 2, 4, 9 Ko J.M.... Yoo H.W. (J. Hum. Genet. 2008)
    2. Identification of a human src homology 2-containing protein-tyrosine- phosphatase: a putative homolog of Drosophila corkscrew. (PubMed id 1280823)1, 2, 3, 9 Freeman R.M. Jr.... Neel B.G. (Proc. Natl. Acad. Sci. U.S.A. 1992)
    3. PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype- phenotype correlation, and phenotypic heterogeneity. (PubMed id 11992261)1, 2, 4, 9 Tartaglia M.... Gelb B.D. (Am. J. Hum. Genet. 2002)
    4. Polymorphisms of PTPN11 coding SHP-2 as biomarkers for ulcerative colitis susceptibility in the Japanese population. (PubMed id 19160029)1, 4, 9 Narumi Y....Tsukamoto K. (J. Clin. Immunol. 2009)
    5. Analysis of the PTPN11 gene in idiopathic short stature children and Noonan syndrome patients. (PubMed id 18331608)1, 4, 9 Ferreira L.V....Jorge A.A. (Clin. Endocrinol. (Oxf) 2008)
    6. PTPN11, RAS and FLT3 mutations in childhood acute lymphoblastic leukemia. (PubMed id 16533526)1, 4, 9 Yamamoto T....Kojma S. (Leuk. Res. 2006)
    7. PTPN11 (protein tyrosine phosphatase, nonreceptor type 11) mutations and response to growth hormone therapy in children with Noonan syndrome. (PubMed id 15956085)1, 4, 9 Ferreira L.V....Jorge A.A. (J. Clin. Endocrinol. Metab. 2005)
    8. Salicylic acid based small molecule inhibitor for the oncogenic Src homology-2 domain containing protein tyrosine phosphatase-2 (SHP2). (PubMed id 20170098)1, 2, 9 Zhang X.... Zhang Z.Y. (J. Med. Chem. 2010)
    9. Correlation of clinical features with the mutational status of GM-CSF signaling pathway-related genes in juvenile myelomonocytic leukemia. (PubMed id 19047918)1, 4, 9 Yoshida N....Kojima S. (Pediatr. Res. 2009)
    10. Genetic heterogeneity in LEOPARD syndrome: two families with no mutations in PTPN11. (PubMed id 15690106)1, 2, 9 Kalidas K.... Jeffery S. (J. Hum. Genet. 2005)

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

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

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 5781 HGNC: 9644 AceView: RPL6 Ensembl:ENSG00000179295 euGenes: HUgn5781
    ECgene: PTPN11 Kegg: 5781 H-InvDB: PTPN11

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for PTPN11 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for PTPN11 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=PTPN11[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for PTPN11 gene:
    Search GeneIP for patents involving PTPN11

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



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