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FLASH GENE
Symbol SHC4 contributors: mct - updated : 19-03-2009
HGNC name SHC (Src homology 2 domain containing) family, member 4
HGNC id 16743
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • two phosphotyrosine-interaction modules,
  • an N-terminal phosphotyrosine binding (PTB) domain
  • a C-terminal Src homology 2 domain
    • HOMOLOGY
    Homologene
    FAMILY
  • SHC family proteins
    • CATEGORY signaling
    SUBCELLULAR LOCALIZATION     plasma membrane
    text coexpressed with MUSK in the postsynaptic region of the NMJ, neuromuscular junction
    basic FUNCTION
  • may mediate a specific aspect of signaling downstream of the MUSK receptor
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • can associate via its PTB domain with the phosphorylated muscle-specific kinase (MUSK) receptor tyrosine kinase and undergo tyrosine phosphorylation downstream of activated MUSK
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    at the transition from radial growth phase to vertical growth phase and metastatic melanomas, when tumor cells acquire migratory competence and invasive potential
    Susceptibility
    Variant & Polymorphism
    Candidate gene
  • specific marker of metastatic melanomas (Fagiani 2007)
  • might represent a new drugable target for the treatment of metastatic disease
    • Marker
    Therapy target
    ANIMAL & CELL MODELS