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    PTPN11 protein tyrosine phosphatase non-receptor type 11 [ Homo sapiens (human) ]

    Gene ID: 5781, updated on 16-Jul-2021

    Summary

    Official Symbol
    PTPN11provided by HGNC
    Official Full Name
    protein tyrosine phosphatase non-receptor type 11provided by HGNC
    Primary source
    HGNC:HGNC:9644
    See related
    Ensembl:ENSG00000179295 MIM:176876
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CFC; NS1; JMML; SHP2; BPTP3; PTP2C; METCDS; PTP-1D; SH-PTP2; SH-PTP3
    Summary
    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. [provided by RefSeq, Aug 2016]
    Expression
    Ubiquitous expression in brain (RPKM 42.2), fat (RPKM 37.5) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See PTPN11 in Genome Data Viewer
    Location:
    12q24.13
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (112418915..112509918)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (112856751..112947722)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene HECT domain E3 ubiquitin protein ligase 4 Neighboring gene DnaJ (Hsp40) homolog, subfamily C, member 2 pseudogene Neighboring gene ribosomal protein L6 Neighboring gene rabphilin 3A Neighboring gene microRNA 1302-1 Neighboring gene 2'-5'-oligoadenylate synthetase 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.
    GeneReviews: Not available
    Four novel Loci (19q13, 6q24, 12q24, and 5q14) influence the microcirculation in vivo.
    GeneReviews: Not available
    Genetics of rheumatoid arthritis contributes to biology and drug discovery.
    GeneReviews: Not available
    Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
    GeneReviews: Not available
    Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot.
    GeneReviews: Not available
    Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.
    GeneReviews: Not available
    Juvenile myelomonocytic leukemia
    MedGen: C0349639 OMIM: 607785 GeneReviews: Not available
    Compare labs
    LEOPARD syndrome 1 Compare labs
    Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians.
    GeneReviews: Not available
    Metachondromatosis
    MedGen: C0410530 OMIM: 156250 GeneReviews: Not available
    Compare labs
    New gene functions in megakaryopoiesis and platelet formation.
    GeneReviews: Not available
    Noonan syndrome
    MedGen: C0028326 GeneReviews: Noonan Syndrome
    Compare labs
    Noonan syndrome 1
    MedGen: C4551602 OMIM: 163950 GeneReviews: Noonan Syndrome
    Compare labs
    Novel associations for hypothyroidism include known autoimmune risk loci.
    GeneReviews: Not available

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2020-09-08)

    ClinGen Genome Curation PagePubMed
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2020-09-08)

    ClinGen Genome Curation PagePubMed

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Progressive HIV-1 infection is linked to upregulated CXCL8 (IL8), CXCR1, and PTPN11 (SHP2) expression in PBMC samples from HIV-1 infected children PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HCV-E2 and HIV-gp120 act collaboratively to trigger a specific set of downstream signaling pathways that include activation of p38 mitogen-activated protein (MAP) kinase and the tyrosine phosphatase, SHP2, in hepatocytes PubMed
    Tat tat HIV-1 Tat C treated human brain microvascular endothelial cells result in downregulation and dissociation of VE-PTP and SHP2 from VE-cadherin PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC14433

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables D1 dopamine receptor binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables cadherin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables cell adhesion molecule binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables insulin receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables insulin receptor substrate binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables non-membrane spanning protein tyrosine phosphatase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables non-membrane spanning protein tyrosine phosphatase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables non-membrane spanning protein tyrosine phosphatase activity TAS
    Traceable Author Statement
    more info
     
    enables peptide hormone receptor binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables phospholipase binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables phosphoprotein phosphatase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables phosphotyrosine residue binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables phosphotyrosine residue binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein domain specific binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein kinase binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein tyrosine kinase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein tyrosine phosphatase activity EXP
    Inferred from Experiment
    more info
    PubMed 
    enables protein tyrosine phosphatase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein tyrosine phosphatase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables protein tyrosine phosphatase activity TAS
    Traceable Author Statement
    more info
     
    enables receptor tyrosine kinase binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables signaling receptor complex adaptor activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in Bergmann glial cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in DNA damage checkpoint signaling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in ERBB signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in T cell costimulation TAS
    Traceable Author Statement
    more info
     
    involved_in abortive mitotic cell cycle IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in atrioventricular canal development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in axonogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in brain development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular response to angiotensin IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to epidermal growth factor stimulus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular response to hydrogen peroxide IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to insulin-like growth factor stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to mechanical stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cerebellar cortex formation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cytokine-mediated signaling pathway TAS
    Traceable Author Statement
    more info
     
    involved_in ephrin receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in epidermal growth factor receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    involved_in face morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in fibroblast growth factor receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in genitalia development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in glucose homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in heart development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in homeostasis of number of cells within a tissue IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in hormone metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in hormone-mediated signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in inner ear development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in integrin-mediated signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in intestinal epithelial cell migration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in megakaryocyte development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in microvillus organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in multicellular organism growth IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in multicellular organismal reproductive process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of cell adhesion mediated by integrin IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of chondrocyte differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of cortisol secretion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of growth hormone secretion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of insulin secretion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neurotrophin TRK receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in organ growth IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in peptidyl-tyrosine dephosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in peptidyl-tyrosine dephosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in platelet formation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in platelet-derived growth factor receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of ERK1 and ERK2 cascade IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of focal adhesion assembly IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of glucose import IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of hormone secretion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of insulin receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of interferon-beta production ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of interleukin-6 production ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of mitotic cell cycle IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of ossification ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of peptidyl-tyrosine phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of tumor necrosis factor production ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of cell adhesion mediated by integrin IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of protein export from nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of protein-containing complex assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of type I interferon-mediated signaling pathway TAS
    Traceable Author Statement
    more info
     
    involved_in smooth muscle cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in triglyceride metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in mitochondrion IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane raft IEA
    Inferred from Electronic Annotation
    more info
     
    part_of protein-containing complex IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 

    General protein information

    Preferred Names
    tyrosine-protein phosphatase non-receptor type 11
    Names
    SH2 domain-containing protein tyrosine phosphatase 2
    protein-tyrosine phosphatase 1D
    protein-tyrosine phosphatase 2C
    NP_001317366.1
    NP_001361554.1
    NP_002825.3
    NP_542168.1
    XP_011536915.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_007459.1 RefSeqGene

      Range
      5001..96182
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_614

    mRNA and Protein(s)

    1. NM_001330437.2NP_001317366.1  tyrosine-protein phosphatase non-receptor type 11 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC004086, AC004216
      Consensus CDS
      CCDS81741.1
      UniProtKB/Swiss-Prot
      Q06124
      Related
      ENSP00000489597.1, ENST00000635625.1
      Conserved Domains (3) summary
      cd09931
      Location:111218
      SH2_C-SH2_SHP_like; C-terminal Src homology 2 (C-SH2) domain found in SH2 domain Phosphatases (SHP) proteins
      cd10340
      Location:5103
      SH2_N-SH2_SHP_like; N-terminal Src homology 2 (N-SH2) domain found in SH2 domain Phosphatases (SHP) proteins
      cd14605
      Location:272528
      PTPc-N11; catalytic domain of tyrosine-protein phosphatase non-receptor type 11
    2. NM_001374625.1NP_001361554.1  tyrosine-protein phosphatase non-receptor type 11 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC004086, AC004216
      Conserved Domains (3) summary
      cd09931
      Location:110217
      SH2_C-SH2_SHP_like; C-terminal Src homology 2 (C-SH2) domain found in SH2 domain Phosphatases (SHP) proteins
      cd10340
      Location:5102
      SH2_N-SH2_SHP_like; N-terminal Src homology 2 (N-SH2) domain found in SH2 domain Phosphatases (SHP) proteins
      cd14605
      Location:271523
      PTPc-N11; catalytic domain of tyrosine-protein phosphatase non-receptor type 11
    3. NM_002834.5NP_002825.3  tyrosine-protein phosphatase non-receptor type 11 isoform 1

      See identical proteins and their annotated locations for NP_002825.3

      Status: REVIEWED

      Source sequence(s)
      AC004086, AC004216
      Consensus CDS
      CCDS9163.1
      UniProtKB/Swiss-Prot
      Q06124
      Related
      ENSP00000340944.3, ENST00000351677.7
      Conserved Domains (3) summary
      cd09931
      Location:111218
      SH2_C-SH2_SHP_like; C-terminal Src homology 2 (C-SH2) domain found in SH2 domain Phosphatases (SHP) proteins
      cd10340
      Location:5103
      SH2_N-SH2_SHP_like; N-terminal Src homology 2 (N-SH2) domain found in SH2 domain Phosphatases (SHP) proteins
      cd14605
      Location:272524
      PTPc-N11; catalytic domain of tyrosine-protein phosphatase non-receptor type 11
    4. NM_080601.3NP_542168.1  tyrosine-protein phosphatase non-receptor type 11 isoform 2

      See identical proteins and their annotated locations for NP_542168.1

      Status: REVIEWED

      Source sequence(s)
      BC008692
      Consensus CDS
      CCDS58280.1
      UniProtKB/Swiss-Prot
      Q06124
      Related
      ENSP00000376376.1, ENST00000392597.5
      Conserved Domains (3) summary
      cd09931
      Location:111218
      SH2_C-SH2_SHP_like; C-terminal Src homology 2 (C-SH2) domain found in SH2 domain Phosphatases (SHP) proteins
      cd10340
      Location:5103
      SH2_N-SH2_SHP_like; N-terminal Src homology 2 (N-SH2) domain found in SH2 domain Phosphatases (SHP) proteins
      smart00194
      Location:246459
      PTPc; Protein tyrosine phosphatase, catalytic domain

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

      Range
      112418915..112509918
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011538613.2XP_011536915.1  tyrosine-protein phosphatase non-receptor type 11 isoform X1

      Conserved Domains (3) summary
      cd09931
      Location:110217
      SH2_C-SH2_SHP_like; C-terminal Src homology 2 (C-SH2) domain found in SH2 domain Phosphatases (SHP) proteins
      cd10340
      Location:5102
      SH2_N-SH2_SHP_like; N-terminal Src homology 2 (N-SH2) domain found in SH2 domain Phosphatases (SHP) proteins
      cd14605
      Location:271527
      PTPc-N11; catalytic domain of tyrosine-protein phosphatase non-receptor type 11

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_018508.1: Suppressed sequence

      Description
      NM_018508.1: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.
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