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FLASH GENE
Symbol EFHC2 contributors: npt - updated : 30-06-2010
HGNC name EF-hand domain (C-terminal) containing 2
HGNC id 26233
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a calcium-binding domain as well as conserved domains of unknown function
  • three putative EF-hand domain (Gu 2005)
  • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY unknown/unspecified
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • may influence a specific measure of social cognition in women with Turner syndrome and might impact the development or function of brain structures critical for functional social competence in adulthood
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism SNP QTL for social cognition in Turner syndrome
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS