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

Gene ID: 5781, updated on 13-Jan-2020

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

Genomic context

See PTPN11 in Genome Data Viewer
Location:
12q24.13
Exon count:
16
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (112418915..112509918)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (112856536..112947717)

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
Juvenile myelomonocytic leukemia
MedGen: C0349639 OMIM: 607785 GeneReviews: Not available
Compare labs
LEOPARD syndrome 1 Compare labs
Metachondromatosis
MedGen: C0410530 OMIM: 156250 GeneReviews: Not available
Compare labs
Noonan syndrome
MedGen: C0028326 GeneReviews: Noonan Syndrome
Compare labs
Noonan syndrome 1
MedGen: C4551602 OMIM: 163950 GeneReviews: Noonan Syndrome
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-03-22)

ClinGen Genome Curation PagePubMed
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-03-22)

ClinGen Genome Curation PagePubMed

NHGRI GWAS Catalog

Description
A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.
NHGRI GWA Catalog
Four novel Loci (19q13, 6q24, 12q24, and 5q14) influence the microcirculation in vivo.
NHGRI GWA Catalog
Genetics of rheumatoid arthritis contributes to biology and drug discovery.
NHGRI GWA Catalog
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
NHGRI GWA Catalog
Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot.
NHGRI GWA Catalog
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.
NHGRI GWA Catalog
Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians.
NHGRI GWA Catalog
New gene functions in megakaryopoiesis and platelet formation.
NHGRI GWA Catalog
Novel associations for hypothyroidism include known autoimmune risk loci.
NHGRI GWA Catalog

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
D1 dopamine receptor binding IEA
Inferred from Electronic Annotation
more info
 
SH3/SH2 adaptor activity IPI
Inferred from Physical Interaction
more info
PubMed 
cadherin binding IPI
Inferred from Physical Interaction
more info
PubMed 
cell adhesion molecule binding IPI
Inferred from Physical Interaction
more info
PubMed 
insulin receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
insulin receptor substrate binding IEA
Inferred from Electronic Annotation
more info
 
non-membrane spanning protein tyrosine phosphatase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
non-membrane spanning protein tyrosine phosphatase activity TAS
Traceable Author Statement
more info
 
peptide hormone receptor binding IEA
Inferred from Electronic Annotation
more info
 
phospholipase binding IEA
Inferred from Electronic Annotation
more info
 
phosphoprotein phosphatase activity IDA
Inferred from Direct Assay
more info
PubMed 
phosphotyrosine residue binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
phosphotyrosine residue binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein domain specific binding IEA
Inferred from Electronic Annotation
more info
 
protein kinase binding ISS
Inferred from Sequence or Structural Similarity
more info
 
protein tyrosine kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein tyrosine phosphatase activity EXP
Inferred from Experiment
more info
PubMed 
protein tyrosine phosphatase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein tyrosine phosphatase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein tyrosine phosphatase activity TAS
Traceable Author Statement
more info
 
receptor tyrosine kinase binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
Bergmann glial cell differentiation IEA
Inferred from Electronic Annotation
more info
 
DNA damage checkpoint IEA
Inferred from Electronic Annotation
more info
 
ERBB signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
T cell costimulation TAS
Traceable Author Statement
more info
 
abortive mitotic cell cycle IEA
Inferred from Electronic Annotation
more info
 
activation of MAPK activity IEA
Inferred from Electronic Annotation
more info
 
atrioventricular canal development IMP
Inferred from Mutant Phenotype
more info
PubMed 
axon guidance TAS
Traceable Author Statement
more info
 
brain development IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to cytokine stimulus TAS
Traceable Author Statement
more info
 
cellular response to epidermal growth factor stimulus IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to mechanical stimulus IEA
Inferred from Electronic Annotation
more info
 
cerebellar cortex formation IEA
Inferred from Electronic Annotation
more info
 
cytokine-mediated signaling pathway TAS
Traceable Author Statement
more info
 
ephrin receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
epidermal growth factor receptor signaling pathway TAS
Traceable Author Statement
more info
 
face morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
fibroblast growth factor receptor signaling pathway TAS
Traceable Author Statement
more info
 
genitalia development IMP
Inferred from Mutant Phenotype
more info
PubMed 
glucose homeostasis IEA
Inferred from Electronic Annotation
more info
 
heart development IMP
Inferred from Mutant Phenotype
more info
PubMed 
homeostasis of number of cells within a tissue IEA
Inferred from Electronic Annotation
more info
 
hormone metabolic process IEA
Inferred from Electronic Annotation
more info
 
hormone-mediated signaling pathway IEA
Inferred from Electronic Annotation
more info
 
inner ear development IMP
Inferred from Mutant Phenotype
more info
PubMed 
integrin-mediated signaling pathway IEA
Inferred from Electronic Annotation
more info
 
interleukin-6-mediated signaling pathway TAS
Traceable Author Statement
more info
 
intestinal epithelial cell migration IEA
Inferred from Electronic Annotation
more info
 
leukocyte migration TAS
Traceable Author Statement
more info
 
megakaryocyte development IEA
Inferred from Electronic Annotation
more info
 
microvillus organization IEA
Inferred from Electronic Annotation
more info
 
multicellular organism growth IEA
Inferred from Electronic Annotation
more info
 
multicellular organismal reproductive process IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cell adhesion mediated by integrin IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cortisol secretion IEA
Inferred from Electronic Annotation
more info
 
negative regulation of growth hormone secretion IEA
Inferred from Electronic Annotation
more info
 
negative regulation of insulin secretion IEA
Inferred from Electronic Annotation
more info
 
neurotrophin TRK receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
organ growth IEA
Inferred from Electronic Annotation
more info
 
peptidyl-tyrosine dephosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
peptidyl-tyrosine dephosphorylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
platelet activation TAS
Traceable Author Statement
more info
 
platelet formation IEA
Inferred from Electronic Annotation
more info
 
platelet-derived growth factor receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
positive regulation of ERK1 and ERK2 cascade IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of glucose import IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of hormone secretion IEA
Inferred from Electronic Annotation
more info
 
positive regulation of insulin receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of interferon-beta production ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of interleukin-6 production ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of mitotic cell cycle IEA
Inferred from Electronic Annotation
more info
 
positive regulation of peptidyl-tyrosine phosphorylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of protein kinase B signaling TAS
Traceable Author Statement
more info
 
positive regulation of tumor necrosis factor production ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of cell adhesion mediated by integrin IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of protein complex assembly IDA
Inferred from Direct Assay
more info
PubMed 
regulation of protein export from nucleus IEA
Inferred from Electronic Annotation
more info
 
regulation of type I interferon-mediated signaling pathway TAS
Traceable Author Statement
more info
 
triglyceride metabolic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
mitochondrion IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
protein-containing complex IMP
Inferred from Mutant Phenotype
more info
PubMed 

General protein information

Preferred Names
tyrosine-protein phosphatase non-receptor type 11
Names
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)

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
    cd00047
    Location:276523
    PTPc; Protein tyrosine phosphatases (PTP) catalyze the dephosphorylation of phosphotyrosine peptides; they regulate phosphotyrosine levels in signal transduction pathways. The depth of the active site cleft renders the enzyme specific for phosphorylated Tyr ...
  2. NM_001374625.1NP_001361554.1  tyrosine-protein phosphatase non-receptor type 11 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC004086, AC004216
  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
    ENSP00000340944.2, ENST00000351677.6
    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
    cd00047
    Location:276519
    PTPc; Protein tyrosine phosphatases (PTP) catalyze the dephosphorylation of phosphotyrosine peptides; they regulate phosphotyrosine levels in signal transduction pathways. The depth of the active site cleft renders the enzyme specific for phosphorylated Tyr ...
  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 109.20191205

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
    cd00047
    Location:275522
    PTPc; Protein tyrosine phosphatases (PTP) catalyze the dephosphorylation of phosphotyrosine peptides; they regulate phosphotyrosine levels in signal transduction pathways. The depth of the active site cleft renders the enzyme specific for phosphorylated Tyr ...
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