PTPN11 Gene Summary [Human]

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]

Details

Type
Processed Transcript
Official Symbol
PTPN11
Official Name
protein tyrosine phosphatase non-receptor type 11 [Source:HGNC Symbol;Acc:HGNC:9644]
Ensembl ID
ENSG00000179295
Bio databases IDs NCBI: 5781 Ensembl: ENSG00000179295
Aliases protein tyrosine phosphatase non-receptor type 11, SH2 domain-containing protein tyrosine phosphatase 2
Synonyms 2700084A17Rik, BPTP3, CFC, JMML, METCDS, MGC14433, Noonan syndrome 1, NS1, protein tyrosine phosphatase non-receptor type 11, protein tyrosine phosphatase, non-receptor type 11, PTN11, PTP-1D, PTP2C, SAP-2, SHP-2, SH-PTP2, SH-PTP3, Src homology protein 2, SYP
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human PTPN11 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • insulin receptor binding
  • protein-tyrosine-phoshatase
  • cell adhesion molecule binding
  • G-protein-coupled receptor binding
  • Protein tyrosine phosphatase, catalytic domain
  • PTP_DSP_cys
  • enzyme
  • Protein tyrosine phosphatase, catalytic domain motif
  • phosphotyrosine phosphatase domain
  • Protein tyrosine phosphatase, catalytic domain, undefined specificity
  • Protein-tyrosine phosphatase
  • receptor signaling complex scaffold protein
  • receptor tyrosine kinase binding
  • protein phosphatase
  • phosphatase
  • Src homology 2 (SH2) domain
  • cadherin binding
  • SHP-2 binding domain
  • non-membrane spanning protein tyrosine phosphatase
  • protein kinase binding
  • catalytic domain
  • enzyme binding
  • phosphotyrosine binding
  • protein domain specific binding
  • protein binding
  • receptor binding
  • phosphatase domain
  • PTPase domain
  • phosphorylation site
  • protein tyrosine phosphatase homology domain
  • active site
  • tyrosine phosphorylation site

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • myelin oligodendrocyte glycoprotein induced experimental autoimmune encephalomyelitis
  • metastasis
  • neoplasia
  • tumorigenesis
  • lung squamous cell carcinoma
  • anemia
  • myelodysplastic syndrome
  • plasma cell myeloma
  • obesity
  • glioblastoma cancer
regulated by
  • F2
  • IL1
  • Immunoglobulin
  • capsaicin
  • bisindolylmaleimide iv
  • IL1B
  • hydrogen peroxide
  • lipopolysaccharide
  • TNF
  • D-glucose
regulates
role in cell
  • expression in
  • production in
  • transformation
  • phosphorylation in
  • cell death
  • migration
  • apoptosis
  • branching
  • proliferation
  • number

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • nuclear fraction
  • raft fractions
  • soluble fraction
  • membrane fraction
  • cell junction
  • cell center
  • cytoskeleton
  • cellular membrane
  • focal adhesions
  • membrane skeleton
  • Nucleus
  • centrosome
  • Mitochondria
  • midbody
  • cell-cell contacts
  • cytosol
  • nucleoplasm
  • neuromuscular junctions
  • actin stress fibers
  • membrane rafts
  • central spindle
  • kinetochores
  • cytoskeletal fraction
  • cytosolic fraction

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human PTPN11 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • inner ear development
  • epidermal growth factor receptor signaling pathway
  • triglyceride metabolic process
  • fibroblast growth factor receptor signaling pathway
  • negative regulation of growth hormone secretion
  • face morphogenesis
  • hormone-mediated signaling pathway
  • microvillus organization
  • axonogenesis
  • positive regulation of interferon-beta production
  • platelet formation
  • positive regulation of tumor necrosis factor production
  • negative regulation of type I interferon production
  • positive regulation of insulin receptor signaling pathway
  • multicellular organismal reproductive process
  • genitalia development
  • platelet-derived growth factor receptor signaling pathway
  • brain development
  • regulation of protein export from nucleus
  • positive regulation of mitotic cell cycle
  • positive regulation of ossification
  • nerve growth factor receptor signaling pathway
  • DNA damage checkpoint
  • ephrin receptor signaling pathway
  • glucose homeostasis
  • cellular response to epidermal growth factor stimulus
  • positive regulation of interleukin-6 production
  • multicellular organism growth
  • organ growth
  • Bergmann glial cell differentiation
  • negative regulation of insulin secretion
  • cerebellar cortex formation
  • heart development
  • integrin-mediated signaling pathway
  • negative regulation of cortisol secretion
  • cytokine-mediated signaling pathway
  • megakaryocyte development
  • peptidyl-tyrosine dephosphorylation
  • positive regulation of peptidyl-tyrosine phosphorylation
  • ERBB signaling pathway
  • T cell costimulation
  • protein dephosphorylation
  • regulation of type I interferon-mediated signaling pathway
  • positive regulation of hormone secretion
  • positive regulation of glucose import
  • regulation of protein complex assembly
  • hormone metabolic process
  • negative regulation of cell adhesion mediated by integrin
  • regulation of cell adhesion mediated by integrin
  • homeostasis of number of cells within a tissue
  • positive regulation of ERK1 and ERK2 cascade
  • negative regulation of chondrocyte differentiation

Cellular Component

Where in the cell the gene product is active
  • nucleus
  • cytoplasm
  • cytosol
  • macromolecular complex
  • nucleoplasm

Molecular Function

What the gene product does at the molecular level
  • protein kinase binding
  • cell adhesion molecule binding
  • insulin receptor binding
  • phosphotyrosine binding
  • phosphoprotein phosphatase activity
  • protein binding
  • non-membrane spanning protein tyrosine phosphatase activity
  • protein tyrosine phosphatase activity
  • cadherin binding
  • peptide hormone receptor binding
  • receptor tyrosine kinase binding
  • receptor signaling complex scaffold activity
  • binding, bridging

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