Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol NTRK3 contributors: mct/ - updated : 01-04-2015
HGNC name neurotrophic tyrosine kinase, receptor, type 3
HGNC id 8033
Location 15q25.3      Physical location : 88.419.987 - 88.799.661
Synonym name
  • ETS related protein-neurotrophic receptor tyrosine kinase fusion protein
  • NT-3 growth factor receptor
  • tyrosine kinase receptor
  • ETV6-NTRK3 fusion
  • Synonym symbol(s) TRKC, gp145(trkC)
    EC.number 2.7.10.1
    DNA
    TYPE functioning gene
    STRUCTURE 380.02 kb     19 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    text structure a CGG repeat in 5'utr
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    18 - 2938 - 817 - 2016 2606188
    19 - 2860 94.4 839 - 2016 2606188
    18 - 2818 - 825 - 2016 2606188
    15 - 3997 - 612 - 2016 2606188
    13 - 3716 - 567 - 2016 2606188
    16 - 2356 - 617 - 2016 2606188
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinelarge intestinecolon highly Homo sapiens
    Endocrineneuroendocrinepituitary  highly
    Nervousnervecranial nerve  highly Homo sapiens
    Skin/Tegumentskinscalp   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier liningepidermis  
    Nervouscentral    Homo sapiens
    Nervousperipherous    Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Digestiveepithelial cell Homo sapiens
    Nervousneuron Homo sapiens
    Skin/Tegumenthair follicle cell
    VisualMuller cell
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two ig-like C2-type (immunoglobulin-like) domains
  • two LRR (leucine-rich) repeats
  • HOMOLOGY
    Homologene
    FAMILY
  • TYR protein kinase family
  • insulin receptor subfamily
  • CATEGORY enzyme , receptor
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm
    text type I membrane protein
    basic FUNCTION
  • involved in the survival and differentiation of nervous system and heart
  • mediating neurotrophin-3-stimulated cell proliferation
  • NTRK3-mediated signaling is involved hair follicle biology
  • may be playing a role in the pathophysiology of anxiety disorders
  • influences hippocampal function and may modify the risk for schizophrenia
  • NTRK1 and NTRK3, respectively) instruct developing neurons to die
  • NTRK3 functions potentially as a dependence receptor that is frequently down-regulated in colorectal malignancies
  • is a colorectal cancer tumor suppressor
  • physiological role for NTRK3 in the pathogenesis of leukemia
  • in the absence of NTF3, the proteolytic cleavage of NTRK3 leads to the release of a killer fragment that triggers mitochondria-dependent apoptosis via the recruitment of COBRA1
  • neurotrophin signaling via NTRK2 and NTRK3 promotes the growth of brain tumor-initiating cells
  • CELLULAR PROCESS cell life, differentiation
    PHYSIOLOGICAL PROCESS nervous system
    text key regulator of cell fate and cell shape in CNS
    PATHWAY
    metabolism
    signaling signal transduction
    mediating BDNF signaling to sensory neurons
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding neurotrophins (NTF3, NTF4), receptor of NTF3, NTF4
  • novel regulatory relationship between the NTRK3 gene and the transcription factor SOX2
  • LRP1-dependent cell signaling that includes NTRK3 activation promotes axonal growth in the CNS
  • is a dependence receptor, and, as such, it triggers apoptosis in the absence of its ligand, NTF3
  • COBRA1 is required for NTRK3-induced apoptosis
  • RUNX3 may play a crucial role in the development of Dorsal root ganglion (DRG) by regulating the expression of NTRK3 variants
  • LINGO1 functions as a negative feedback regulator of signaling by cognate receptor tyrosine kinases including NTRK1, NTRK2 and NTRK3
  • cell & other
    REGULATION
    Other regulated by miRNAs (key posttranscriptional regulators of NTRK3 and allele-specific miRNA regulation of NTRK3 in anxiety disorders)
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   translocation    
    acquired translocation t(12;15)(p13;q25) in congenital mesoblastic nephroma (CMN), and in tumour development
    tumoral fusion translocation   protein chimeric
    acquired t(12;15)(p13;q25) leading to a ETV6-NTRK3 gene fusion in congenital or infantile fibrosarcoma, in pediatric spindle cell sarcomas and secretory breast carcinoma
    tumoral somatic mutation      
    in breast, lung, and pancreatic cancers
    tumoral     --over  
    in medulloblastomas, identified as a powerful independent predictor of favorable survival outcome
    tumoral     --over  
    in disfiguring cutaneous appendageal tumours of CYLD
    tumoral     --low  
    in a large fraction of human colorectal cancers, mainly through promoter methylation
    Susceptibility
  • to medullary thyroid carcinoma
  • to eating disorder
  • to panic disorder (PD) and obsessive-compulsive disorder (OCD)
  • Variant & Polymorphism SNP
  • increasing the risk of eating disorder
  • C allele of rs28521337, significantly associated with the hoarding phenotype of OCD and two new rare variants ss102661458 and ss102661460, located in functional target site for MicroRNA, in PD
  • Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerbrainglioma/neuroblstoma
    could be a target for combinatorial treatment of malignant glioma
    ANIMAL & CELL MODELS