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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
Location 15q21.1      Physical location : 49.115.933 - 49.255.641
Synonym name
  • rai-like protein
  • SH2 domain protein C4
    • Synonym symbol(s) MGC34023, RaLP, SHCD
    DNA
    TYPE functioning gene
    SPECIAL FEATURE arranged in tandem
    STRUCTURE 139.71 kb     12 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    12 - 4556 68.6 630 - 2007 17452444
    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