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FLASH GENE
Symbol EVC2 contributors: npt/mct/pgu - updated : 24-09-2015
HGNC name Ellis van Creveld syndrome 2 (limbin)
HGNC id 19747
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N-terminal transmembrane domains
  • regions of coiled-coil structure
  • three nuclear localization signals (NLS)
  • C-terminus of EVC2 regulates stability and localization of EVC and EVC2
    • HOMOLOGY
    interspecies ortholog to murine Lbn
    Homologene
    FAMILY
    CATEGORY unknown/unspecified
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule
    text
  • localize to the basal bodies of primary cilia
    • basic FUNCTION
  • involved in bone formation, maybe coexpressed and coregulated with EVC
  • with EVC, having function coordinately in cardiac development and loss of this coordinate function results in the characteristics of EVC syndrome
  • essential component of IHH signaling in the growth plate
  • endogenous EVC and EVC2 are mutually required for their translocation to cilia
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text bone development
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • EVC and EVC2 are mutually required for maintaining their protein levels and localization
  • EVC/EVC2 complex interacts with SMO and is required for signal transduction events
  • promotes recruitment of GLI3 to the tips of cilia
  • EFCAB7 is a possible modifier gene in EVC and EVC2 and its related disorders
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) EVC , WAD
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancer  
    could represent new targets for anti-tumoral therapy
    ANIMAL & CELL MODELS
  • bovine chondrodysplastic dwarfism
  • Evc2-/- mice develop a short-rib skeletal dysplasia resembling EvC due to diminished activity of the Ihh pathway in the growth plate