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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
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Nervousbrain   highly Homo sapiens
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumskeletal   Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
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