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FLASH GENE
Symbol EFS contributors: SGE - updated : 29-07-2010
HGNC name embryonal Fyn-associated substrate
HGNC id 16898
Location 14q11.2      Physical location : 23.825.611 - 23.834.842
Synonym name
  • signal transduction protein (SH3 containing)
  • mouse Efs,embryonal Fyn associated substrate
  • Cas scaffolding protein family member 3
    • Synonym symbol(s) EFS1, HEFS, EFS2, SIN, CASS3, CAS3
    DNA
    TYPE functioning gene
    STRUCTURE 9.23 kb     6 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 - 3132 - 561 widely Ishino (1997)
  • isoform 1
    • 5 - 2853 - 468 widely Ishino (1997)
  • lacking the SH3 domain
  • isoform 2
    		•
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Reproductivefemale systemplacenta   
    Respiratorylung    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a SH3 domain (lacking in ESF2)
  • a cluster of putative ligands for SH2 domains and proline rich sequences
    • conjugated PhosphoP
    HOMOLOGY
    interspecies homolog to murine Efs (80.9pc)
    homolog to rattus Efs (81.4pc)
    Homologene
    FAMILY
  • CAS family
    • CATEGORY adhesion
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • involved in signal transduction
  • may play a central coordinating role for tyrosine_kinase_based signaling related to cell adhesion
  • may serve as an activator of SRC and a downstream effector
  • act as scaffolds to regulate protein complexes controlling migration and chemotaxis, apoptosis, cell cycle, and differentiation, and is linked to a role in progenitor cell function
  • important role for Cas proteins in cell-cell adhesion signaling in development
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with the SH3 domain of FYN and with CRK, SRC and YES
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    exagerated immune responses accompanied by multitissue inflammation in Sin-/- mice. In mice, EFS is important for homeostatic maintenance of the medullary epithelium in the adult thymus (Danzl 2010)