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

Gene ID: 5781, updated on 9-Oct-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
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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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