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    RET ret proto-oncogene [ Homo sapiens (human) ]

    Gene ID: 5979, updated on 24-Apr-2016
    Official Symbol
    RETprovided by HGNC
    Official Full Name
    ret proto-oncogeneprovided by HGNC
    Primary source
    HGNC:HGNC:9967
    See related
    Ensembl:ENSG00000165731 HPRD:01266; MIM:164761; Vega:OTTHUMG00000018024
    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
    PTC; MTC1; HSCR1; MEN2A; MEN2B; RET51; CDHF12; CDHR16; RET-ELE1
    Summary
    This gene, a member of the cadherin superfamily, encodes one of the receptor tyrosine kinases, which are cell-surface molecules that transduce signals for cell growth and differentiation. This gene plays a crucial role in neural crest development, and it can undergo oncogenic activation in vivo and in vitro by cytogenetic rearrangement. Mutations in this gene are associated with the disorders multiple endocrine neoplasia, type IIA, multiple endocrine neoplasia, type IIB, Hirschsprung disease, and medullary thyroid carcinoma. Two transcript variants encoding different isoforms have been found for this gene. Additional transcript variants have been described but their biological validity has not been confirmed. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    10q11.2
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 10 NC_000010.11 (43077027..43130351)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (43572517..43625799)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1264 Neighboring gene microRNA 5100 Neighboring gene chondroitin sulfate N-acetylgalactosaminyltransferase 2 Neighboring gene RasGEF domain family member 1A

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Professional guidelines

    Description
    Professional guideline
    ACMG 2013

    The ACMG recommends that laboratories performing clinical sequencing seek and report mutations in RET that are pathogenic or expected to be pathogenic.

    GuidelinePubMed

    Associated conditions

    Description Tests
    Congenital central hypoventilation Compare labs
    Familial medullary thyroid carcinoma Compare labs
    Hirschsprung disease 1
    MedGen: C2931876 OMIM: 142623 GeneReviews: Hirschsprung Disease Overview
    Compare labs
    Multiple endocrine neoplasia, type 2a Compare labs
    Multiple endocrine neoplasia, type 2b Compare labs
    Pheochromocytoma Compare labs
    Renal adysplasia
    MedGen: C1619700 OMIM: 191830 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2011-10-28)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2011-10-28)

    ClinGen Genome Curation Page

    NHGRI GWAS Catalog

    Description
    A genome-wide association study identifies potential susceptibility Loci for hirschsprung disease.
    NHGRI GWA Catalog
    Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease.
    NHGRI GWA Catalog
    • ARMS-mediated activation, organism-specific biosystem (from REACTOME)
      ARMS-mediated activation, organism-specific biosystemARMS (Ankyrin-Rich Membrane Spanning/Kidins 220) is a 220kD tetraspanning adaptor protein which becomes rapidly tyrosine phosphorylated by active Trk receptors. ARMS is another adaptor protein which ...
    • Axon guidance, organism-specific biosystem (from REACTOME)
      Axon guidance, organism-specific biosystemAxon guidance / axon pathfinding is the process by which neurons send out axons to reach the correct targets. Growing axons have a highly motile structure at the growing tip called the growth cone, w...
    • Central carbon metabolism in cancer, organism-specific biosystem (from KEGG)
      Central carbon metabolism in cancer, organism-specific biosystemMalignant transformation of cells requires specific adaptations of cellular metabolism to support growth and survival. In the early twentieth century, Otto Warburg established that there are fundamen...
    • Central carbon metabolism in cancer, conserved biosystem (from KEGG)
      Central carbon metabolism in cancer, conserved biosystemMalignant transformation of cells requires specific adaptations of cellular metabolism to support growth and survival. In the early twentieth century, Otto Warburg established that there are fundamen...
    • Cytokine Signaling in Immune system, organism-specific biosystem (from REACTOME)
      Cytokine Signaling in Immune system, organism-specific biosystemCytokines are small proteins that regulate and mediate immunity, inflammation, and hematopoiesis. They are secreted in response to immune stimuli, and usually act briefly, locally, at very low concen...
    • DAP12 interactions, organism-specific biosystem (from REACTOME)
      DAP12 interactions, organism-specific biosystemDNAX activation protein of 12kDa (DAP12) is an immunoreceptor tyrosine-based activation motif (ITAM)-bearing adapter molecule that transduces activating signals in natural killer (NK) and myeloid cel...
    • DAP12 signaling, organism-specific biosystem (from REACTOME)
      DAP12 signaling, organism-specific biosystemIn response to receptor ligation, the tyrosine residues in DAP12's immunoreceptor tyrosine-based activation motif (ITAM) are phosphorylated by Src family kinases. These phosphotyrosines form the dock...
    • Developmental Biology, organism-specific biosystem (from REACTOME)
      Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
    • Downstream signal transduction, organism-specific biosystem (from REACTOME)
      Downstream signal transduction, organism-specific biosystemThe role of autophosphorylation sites on PDGF receptors are to provide docking sites for downstream signal transduction molecules which contain SH2 domains. The SH2 domain is a conserved motif of aro...
    • Downstream signaling of activated FGFR1, organism-specific biosystem (from REACTOME)
      Downstream signaling of activated FGFR1, organism-specific biosystemSignaling via FGFRs is mediated via direct recruitment of signaling proteins that bind to tyrosine auto-phosphorylation sites on the activated receptor and via closely linked docking proteins that be...
    • Downstream signaling of activated FGFR2, organism-specific biosystem (from REACTOME)
      Downstream signaling of activated FGFR2, organism-specific biosystemSignaling via FGFRs is mediated via direct recruitment of signaling proteins that bind to tyrosine auto-phosphorylation sites on the activated receptor and via closely linked docking proteins that be...
    • Downstream signaling of activated FGFR3, organism-specific biosystem (from REACTOME)
      Downstream signaling of activated FGFR3, organism-specific biosystemSignaling via FGFRs is mediated via direct recruitment of signaling proteins that bind to tyrosine auto-phosphorylation sites on the activated receptor and via closely linked docking proteins that be...
    • Downstream signaling of activated FGFR4, organism-specific biosystem (from REACTOME)
      Downstream signaling of activated FGFR4, organism-specific biosystemSignaling via FGFRs is mediated via direct recruitment of signaling proteins that bind to tyrosine auto-phosphorylation sites on the activated receptor and via closely linked docking proteins that be...
    • Endocytosis, organism-specific biosystem (from KEGG)
      Endocytosis, organism-specific biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
    • Endocytosis, conserved biosystem (from KEGG)
      Endocytosis, conserved biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
    • FCERI mediated MAPK activation, organism-specific biosystem (from REACTOME)
      FCERI mediated MAPK activation, organism-specific biosystemFormation of the LAT signaling complex leads to activation of MAPK and production of cytokines. The sequence of events that leads from LAT to cytokine production has not been as clearly defined as th...
    • FRS-mediated FGFR1 signaling, organism-specific biosystem (from REACTOME)
      FRS-mediated FGFR1 signaling, organism-specific biosystemThe FRS family of scaffolding adaptor proteins has two members, FRS2 (also known as FRS2 alpha) and FRS3 (also known as FRS2beta or SNT-2). Activation of FGFR tyrosine kinase allows FRS proteins to ...
    • FRS-mediated FGFR2 signaling, organism-specific biosystem (from REACTOME)
      FRS-mediated FGFR2 signaling, organism-specific biosystemThe FRS family of scaffolding adaptor proteins has two members, FRS2 (also known as FRS2 alpha) and FRS3 (also known as FRS2beta or SNT-2). Activation of FGFR tyrosine kinase allows FRS proteins to ...
    • FRS-mediated FGFR3 signaling, organism-specific biosystem (from REACTOME)
      FRS-mediated FGFR3 signaling, organism-specific biosystemThe FRS family of scaffolding adaptor proteins has two members, FRS2 (also known as FRS2 alpha) and FRS3 (also known as FRS2beta or SNT-2). Activation of FGFR tyrosine kinase allows FRS proteins to ...
    • FRS-mediated FGFR4 signaling, organism-specific biosystem (from REACTOME)
      FRS-mediated FGFR4 signaling, organism-specific biosystemThe FRS family of scaffolding adaptor proteins has two members, FRS2 (also known as FRS2 alpha) and FRS3 (also known as FRS2beta or SNT-2). Activation of FGFR tyrosine kinase allows FRS proteins to ...
    • Fc epsilon receptor (FCERI) signaling, organism-specific biosystem (from REACTOME)
      Fc epsilon receptor (FCERI) signaling, organism-specific biosystemMast cells (MC) are distributed in tissues throughout the human body and have long been recognized as key cells of type I hypersensitivity reactions. They also play important roles in inflammatory an...
    • Frs2-mediated activation, organism-specific biosystem (from REACTOME)
      Frs2-mediated activation, organism-specific biosystemThe adaptor protein Frs2 (Fibroblast growth factor receptor substrate 2) can mediate the prolonged activation of the MAPK (ERK) cascade.
    • GRB2 events in EGFR signaling, organism-specific biosystem (from REACTOME)
      GRB2 events in EGFR signaling, organism-specific biosystemAutophosphorylated EGFR tyrosine residues are docking sites for many downstream effectors in EGFR signaling. The adaptor protein GRB2 binds to phosphotyrosine residues in the C-tail of EGFR through i...
    • Gastrin-CREB signalling pathway via PKC and MAPK, organism-specific biosystem (from REACTOME)
      Gastrin-CREB signalling pathway via PKC and MAPK, organism-specific biosystemGastrin is a hormone whose main function is to stimulate secretion of hydrochloric acid by the gastric mucosa, which results in gastrin formation inhibition. This hormone also acts as a mitogenic fac...
    • IGF1R signaling cascade, organism-specific biosystem (from REACTOME)
      IGF1R signaling cascade, organism-specific biosystemAfter autophosphorylation the type 1 insulin-like growth factor receptor (IGF1R) binds and phosphorylates scaffold proteins, IRS1/2/4 and SHC1, which in turn bind effectors possessing enzymatic activ...
    • IRS-mediated signalling, organism-specific biosystem (from REACTOME)
      IRS-mediated signalling, organism-specific biosystemRelease of phospho-IRS from the insulin receptor triggers a cascade of signalling events via PI3K, SOS, RAF and the MAP kinases.
    • IRS-related events triggered by IGF1R, organism-specific biosystem (from REACTOME)
      IRS-related events triggered by IGF1R, organism-specific biosystemThe phosphorylated type 1 insulin-like growth factor receptor phosphorylates IR1, IRS2, IRS4 and possibly other IRS/DOK family members (reviewed in Pavelic et al. 2007, Chitnis et al. 2008, Maki et a...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Innate Immune System, organism-specific biosystem (from REACTOME)
      Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
    • Insulin receptor signalling cascade, organism-specific biosystem (from REACTOME)
      Insulin receptor signalling cascade, organism-specific biosystemAutophosphorylation of the insulin receptor triggers a series of signalling events, mediated by SHC or IRS, and resulting in activation of the Ras/RAF and MAP kinase cascades. A second effect of the ...
    • Interleukin receptor SHC signaling, organism-specific biosystem (from REACTOME)
      Interleukin receptor SHC signaling, organism-specific biosystemPhosphorylation of Shc at three tyrosine residues, 239, 240 (Gotoh et al. 1996) and 317 (Salcini et al. 1994) involves unidentified tyrosine kinases presumed to be part of the activated receptor comp...
    • Interleukin-2 signaling, organism-specific biosystem (from REACTOME)
      Interleukin-2 signaling, organism-specific biosystemInterleukin-2 (IL-2) is a cytokine that is produced by T cells in response to antigen stimulation. Originally, IL-2 was discovered because of its potent growth factor activity on activated T cells in...
    • Interleukin-3, 5 and GM-CSF signaling, organism-specific biosystem (from REACTOME)
      Interleukin-3, 5 and GM-CSF signaling, organism-specific biosystemThe Interleukin-3 (IL-3), IL-5 and Granulocyte-macrophage colony stimulating factor (GM-CSF) receptors form a family of heterodimeric receptors that have specific alpha chains but share a common beta...
    • MAPK family signaling cascades, organism-specific biosystem (from REACTOME)
      MAPK family signaling cascades, organism-specific biosystemThe mitogen activated protein kinases (MAPKs) are a family of conserved protein serine threonine kinases that respond to varied extracellular stimuli to activate intracellular processes including gen...
    • MAPK1/MAPK3 signaling, organism-specific biosystem (from REACTOME)
      MAPK1/MAPK3 signaling, organism-specific biosystemThe extracellular signal regulated kinases (ERKs) 1 and 2, also known as MAPK3 and MAPK1, are phosphorylated by the MAP2Ks 1 and 2 in response to a wide range of extracellular stimuli to promote diff...
    • NCAM signaling for neurite out-growth, organism-specific biosystem (from REACTOME)
      NCAM signaling for neurite out-growth, organism-specific biosystemThe neural cell adhesion molecule, NCAM, is a member of the immunoglobulin (Ig) superfamily and is involved in a variety of cellular processes of importance for the formation and maintenance of the n...
    • NGF signalling via TRKA from the plasma membrane, organism-specific biosystem (from REACTOME)
      NGF signalling via TRKA from the plasma membrane, organism-specific biosystemTrk receptors signal from the plasma membrane and from intracellular membranes, particularly from early endosomes. Signalling from the plasma membrane is fast but transient; signalling from endosomes...
    • Pathways in cancer, organism-specific biosystem (from KEGG)
      Pathways in cancer, organism-specific biosystem
      Pathways in cancer
    • Prolonged ERK activation events, organism-specific biosystem (from REACTOME)
      Prolonged ERK activation events, organism-specific biosystemAfter NGF binding, activated Trk receptors provide multiple docking sites for adaptor proteins and enzymes. Two docking proteins, the Ankyrin-Rich Membrane Spanning protein (ARMS/Kidins220) and Fibro...
    • RAF/MAP kinase cascade, organism-specific biosystem (from REACTOME)
      RAF/MAP kinase cascade, organism-specific biosystemThe RAS-RAF-MEK-ERK pathway regulates processes such as proliferation, differentiation, survival, senescence and cell motility in response to growth factors, hormones and cytokines, among others. Bin...
    • SHC1 events in EGFR signaling, organism-specific biosystem (from REACTOME)
      SHC1 events in EGFR signaling, organism-specific biosystemGRB2 can bind EGFR directly or through another SH2-containing protein, SHC1. This association leads to RAS activation.
    • SHC1 events in ERBB4 signaling, organism-specific biosystem (from REACTOME)
      SHC1 events in ERBB4 signaling, organism-specific biosystemAll splicing isoforms of ERBB4 possess two tyrosine residues in the C-tail that serve as docking sites for SHC1 (Kaushansky et al. 2008, Pinkas-Kramarski et al. 1996, Cohen et al. 1996). Once bound t...
    • SIDS Susceptibility Pathways, organism-specific biosystem (from WikiPathways)
      SIDS Susceptibility Pathways, organism-specific biosystemIn this model, we provide an integrated view of Sudden Infant Death Syndrome (SIDS) at the level of implicated tissues, signaling networks and genetics. The purpose of this model is to serve as an ov...
    • SOS-mediated signalling, organism-specific biosystem (from REACTOME)
      SOS-mediated signalling, organism-specific biosystemSOS is recruited to the plasma membrane and mediates activation of Ras.
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by EGFR, organism-specific biosystem (from REACTOME)
      Signaling by EGFR, organism-specific biosystemThe epidermal growth factor receptor (EGFR) is one member of the ERBB family of transmembrane glycoprotein tyrosine receptor kinases (RTK). Binding of EGFR to its ligands induces conformational chang...
    • Signaling by ERBB4, organism-specific biosystem (from REACTOME)
      Signaling by ERBB4, organism-specific biosystemERBB4, also known as HER4, belongs to the ERBB family of receptors, which also includes ERBB1 (EGFR i.e. HER1), ERBB2 (HER2 i.e. NEU) and ERBB3 (HER3). Similar to EGFR, ERBB4 has an extracellular lig...
    • Signaling by FGFR, organism-specific biosystem (from REACTOME)
      Signaling by FGFR, organism-specific biosystemThe 22 members of the fibroblast growth factor (FGF) family of growth factors mediate their cellular responses by binding to and activating the different isoforms encoded by the four receptor tyrosin...
    • Signaling by FGFR1, organism-specific biosystem (from REACTOME)
      Signaling by FGFR1, organism-specific biosystemThe 22 members of the fibroblast growth factor (FGF) family of growth factors mediate their cellular responses by binding to and activating the different isoforms encoded by the four receptor tyrosin...
    • Signaling by FGFR2, organism-specific biosystem (from REACTOME)
      Signaling by FGFR2, organism-specific biosystemThe 22 members of the fibroblast growth factor (FGF) family of growth factors mediate their cellular responses by binding to and activating the different isoforms encoded by the four receptor tyrosin...
    • Signaling by FGFR3, organism-specific biosystem (from REACTOME)
      Signaling by FGFR3, organism-specific biosystemThe 22 members of the fibroblast growth factor (FGF) family of growth factors mediate their cellular responses by binding to and activating the different isoforms encoded by the four receptor tyrosin...
    • Signaling by FGFR4, organism-specific biosystem (from REACTOME)
      Signaling by FGFR4, organism-specific biosystemThe 22 members of the fibroblast growth factor (FGF) family of growth factors mediate their cellular responses by binding to and activating the different isoforms encoded by the four receptor tyrosin...
    • Signaling by GPCR, organism-specific biosystem (from REACTOME)
      Signaling by GPCR, organism-specific biosystemG protein-coupled receptors (GPCRs; 7TM receptors; seven transmembrane domain receptors; heptahelical receptors; G protein-linked receptors [GPLR]) are the largest family of transmembrane receptors i...
    • Signaling by Insulin receptor, organism-specific biosystem (from REACTOME)
      Signaling by Insulin receptor, organism-specific biosystemInsulin binding to its receptor results in receptor autophosphorylation on tyrosine residues and the tyrosine phosphorylation of insulin receptor substrates (e.g. IRS and Shc) by the insulin receptor...
    • Signaling by Interleukins, organism-specific biosystem (from REACTOME)
      Signaling by Interleukins, organism-specific biosystemInterleukins are low molecular weight proteins that bind to cell surface receptors and act in an autocrine and/or paracrine fashion. They were first identified as factors produced by leukocytes but a...
    • Signaling by Leptin, organism-specific biosystem (from REACTOME)
      Signaling by Leptin, organism-specific biosystemLeptin (LEP, OB, OBS), a circulating adipokine, and its receptor LEPR (DB, OBR) control food intake and energy balance and are implicated in obesity-related diseases (recently reviewed in Amitani et ...
    • Signaling by PDGF, organism-specific biosystem (from REACTOME)
      Signaling by PDGF, organism-specific biosystemPlatelet-derived Growth Factor (PDGF) is a potent stimulator of growth and motility of connective tissue cells such as fibroblasts and smooth muscle cells as well as other cells such as capillary end...
    • Signaling by SCF-KIT, organism-specific biosystem (from REACTOME)
      Signaling by SCF-KIT, organism-specific biosystemStem cell factor (SCF) is a growth factor with membrane bound and soluble forms. It is expressed by fibroblasts and endothelial cells throughout the body, promoting proliferation, migration, survival...
    • Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R), organism-specific biosystem (from REACTOME)
      Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R), organism-specific biosystemBinding of IGF1 (IGF-I) or IGF2 (IGF-II) to the extracellular alpha peptides of the type 1 insulin-like growth factor receptor (IGF1R) triggers the activation of two major signaling pathways: the SOS...
    • Signaling by VEGF, organism-specific biosystem (from REACTOME)
      Signaling by VEGF, organism-specific biosystemIn normal development vascular endothelial growth factors (VEGFs) are crucial regulators of vascular development during embryogenesis (vasculogenesis) and blood-vessel formation in the adult (angioge...
    • Signaling events regulated by Ret tyrosine kinase, organism-specific biosystem (from Pathway Interaction Database)
      Signaling events regulated by Ret tyrosine kinase, organism-specific biosystem
      Signaling events regulated by Ret tyrosine kinase
    • Signalling by NGF, organism-specific biosystem (from REACTOME)
      Signalling by NGF, organism-specific biosystemNeurotrophins (NGF, BDNF, NT-3, NT-4/5) play pivotal roles in survival, differentiation, and plasticity of neurons in the peripheral and central nervous system. They are produced, and secreted in mi...
    • Signalling to ERKs, organism-specific biosystem (from REACTOME)
      Signalling to ERKs, organism-specific biosystemNeurotrophins utilize multiple pathways to activate ERKs (ERK1 and ERK2), a subgroup of the large MAP kinase (MAPK) family, from the plasma membrane. The major signalling pathways to ERKs are via RAS...
    • Signalling to RAS, organism-specific biosystem (from REACTOME)
      Signalling to RAS, organism-specific biosystemSignalling through Shc adaptor proteins appears to be identical for both NGF and EGF. It leads to a fast, but transient, MAPK/ERK activation, which is insufficient to explain the prolonged activation...
    • Signalling to p38 via RIT and RIN, organism-specific biosystem (from REACTOME)
      Signalling to p38 via RIT and RIN, organism-specific biosystemRIT and RIN are two small guanine nucleotide binding proteins that share more than 50% sequence identity with RAS, including highly conserved core effector domains. Unlike RAS, the C termini of RIT a...
    • Thyroid cancer, organism-specific biosystem (from KEGG)
      Thyroid cancer, organism-specific biosystemThyroid cancer is the most common endocrine malignancy and accounts for the majority of endocrine cancer- related deaths each year. More than 95% of thyroid carcinomas are derived from follicular cel...
    • Thyroid cancer, conserved biosystem (from KEGG)
      Thyroid cancer, conserved biosystemThyroid cancer is the most common endocrine malignancy and accounts for the majority of endocrine cancer- related deaths each year. More than 95% of thyroid carcinomas are derived from follicular cel...
    • VEGFA-VEGFR2 Pathway, organism-specific biosystem (from REACTOME)
      VEGFA-VEGFR2 Pathway, organism-specific biosystemAngiogenesis is the formation of new blood vessels from preexisting vasculature. One of the most important proangiogenic factors is vascular endothelial growth factor (VEGF). VEGF exerts its biologic...
    • VEGFR2 mediated cell proliferation, organism-specific biosystem (from REACTOME)
      VEGFR2 mediated cell proliferation, organism-specific biosystemVEGFR2 stimulates ERK not via GRB2-SOS-RAS, but via pY1175-dependent phosphorylation of PLC gamma and subsequent activation of PKCs. PKC plays an important mediatory role in the proliferative Ras/Raf...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    Ras guanyl-nucleotide exchange factor activity TAS
    Traceable Author Statement
    more info
     
    calcium ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein tyrosine kinase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    receptor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    transmembrane receptor protein tyrosine kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    MAPK cascade TAS
    Traceable Author Statement
    more info
     
    Peyer's patch morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    activation of cysteine-type endopeptidase activity involved in apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cellular response to retinoic acid IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    embryonic epithelial tube formation IEA
    Inferred from Electronic Annotation
    more info
     
    enteric nervous system development IEA
    Inferred from Electronic Annotation
    more info
     
    homophilic cell adhesion via plasma membrane adhesion molecules IEA
    Inferred from Electronic Annotation
    more info
     
    innervation IEA
    Inferred from Electronic Annotation
    more info
     
    lymphocyte migration into lymphoid organs ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    membrane protein proteolysis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    neural crest cell migration IEA
    Inferred from Electronic Annotation
    more info
     
    neuron cell-cell adhesion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    neuron maturation IEA
    Inferred from Electronic Annotation
    more info
     
    peptidyl-tyrosine phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    peptidyl-tyrosine phosphorylation TAS
    Traceable Author Statement
    more info
    PubMed 
    positive regulation of GTPase activity TAS
    Traceable Author Statement
    more info
     
    positive regulation of cell adhesion mediated by integrin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of cell migration IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of cell size IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of extrinsic apoptotic signaling pathway in absence of ligand IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of extrinsic apoptotic signaling pathway in absence of ligand TAS
    Traceable Author Statement
    more info
    PubMed 
    positive regulation of metanephric glomerulus development ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    positive regulation of neuron maturation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of neuron projection development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of serine phosphorylation of STAT3 protein IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of transcription, DNA-templated ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    posterior midgut development TAS
    Traceable Author Statement
    more info
    PubMed 
    protein phosphorylation TAS
    Traceable Author Statement
    more info
    PubMed 
    regulation of axonogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of cell adhesion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    response to drug IEA
    Inferred from Electronic Annotation
    more info
     
    response to pain ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    retina development in camera-type eye IEA
    Inferred from Electronic Annotation
    more info
     
    signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    transmembrane receptor protein tyrosine kinase signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    ureter maturation IEA
    Inferred from Electronic Annotation
    more info
     
    ureteric bud development IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    axon IEA
    Inferred from Electronic Annotation
    more info
     
    cytoplasm IDA
    Inferred from Direct Assay
    more info
     
    dendrite IEA
    Inferred from Electronic Annotation
    more info
     
    early endosome IEA
    Inferred from Electronic Annotation
    more info
     
    endosome membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    membrane raft IEA
    Inferred from Electronic Annotation
    more info
     
    neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    receptor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    proto-oncogene tyrosine-protein kinase receptor Ret
    Names
    CUX1/RET fusion
    RET receptor tyrosine kinase
    RET transforming sequence
    cadherin family member 12
    cadherin-related family member 16
    hydroxyaryl-protein kinase
    proto-oncogene c-Ret
    rearranged during transfection
    receptor tyrosine kinase
    ret proto-oncogene (multiple endocrine neoplasia and medullary thyroid carcinoma 1, Hirschsprung disease)
    NP_065681.1
    NP_066124.1

    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_007489.1 RefSeqGene

      Range
      5001..58283
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_518

    mRNA and Protein(s)

    1. NM_020630.4NP_065681.1  proto-oncogene tyrosine-protein kinase receptor Ret isoform c precursor

      See identical proteins and their annotated locations for NP_065681.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 3' UTR and coding region compared to variant 2. The resulting isoform (c) is shorter and has a distinct C-terminus compared to isoform a. This isoform is also known as Ret9.
      Source sequence(s)
      AI472270, BC003072, BC004257, BE261914, BM703293, DA100452, DA911581, X12949
      Consensus CDS
      CCDS53525.1
      UniProtKB/Swiss-Prot
      P07949
      UniProtKB/TrEMBL
      Q9BTX6
      Related
      ENSP00000344798, OTTHUMP00000216967, ENST00000340058, OTTHUMT00000358138
      Conserved Domains (3) summary
      cd05045
      Location:7231012
      PTKc_RET; Catalytic domain of the Protein Tyrosine Kinase, REarranged during Transfection protein
      cd11304
      Location:173267
      Cadherin_repeat; Cadherin tandem repeat domain
      pfam07714
      Location:7241005
      Pkinase_Tyr; Protein tyrosine kinase
    2. NM_020975.4NP_066124.1  proto-oncogene tyrosine-protein kinase receptor Ret isoform a precursor

      See identical proteins and their annotated locations for NP_066124.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) represents the longer transcript and encodes the longer isoform (a). This isoform is also known as Ret51.
      Source sequence(s)
      AC010864, BC003072, BC004257, BM661773, DA100452, X12949
      Consensus CDS
      CCDS7200.1
      UniProtKB/Swiss-Prot
      P07949
      UniProtKB/TrEMBL
      A0A024R7T2, Q9BTX6
      Related
      ENSP00000347942, OTTHUMP00000019479, ENST00000355710, OTTHUMT00000047694
      Conserved Domains (3) summary
      cd05045
      Location:7231012
      PTKc_RET; Catalytic domain of the Protein Tyrosine Kinase, REarranged during Transfection protein
      cd11304
      Location:173267
      Cadherin_repeat; Cadherin tandem repeat domain
      pfam07714
      Location:7241005
      Pkinase_Tyr; Protein tyrosine kinase

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p2 Primary Assembly

      Range
      43077027..43130351
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011540027.1XP_011538329.1  

      See identical proteins and their annotated locations for XP_011538329.1

      UniProtKB/Swiss-Prot
      P07949
      UniProtKB/TrEMBL
      A0A024R7T2
      Conserved Domains (3) summary
      cd05045
      Location:7231012
      PTKc_RET; Catalytic domain of the Protein Tyrosine Kinase, REarranged during Transfection protein
      cd11304
      Location:173267
      Cadherin_repeat; Cadherin tandem repeat domain
      pfam07714
      Location:7241005
      Pkinase_Tyr; Protein tyrosine kinase

    Alternate CHM1_1.1

    Genomic

    1. NC_018921.2 Alternate CHM1_1.1

      Range
      43611715..43665000
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_000323.2: Suppressed sequence

      Description
      NM_000323.2: This RefSeq was permanently suppressed because currently not enough support exists for the transcript and the protein.
    2. NM_020629.2: Suppressed sequence

      Description
      NM_020629.2: This RefSeq was permanently suppressed because currently not enough support exists for the transcript and the protein.