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FLASH GENE
Symbol CIB2 contributors: mct - updated : 03-04-2015
HGNC name calcium and integrin binding family member 2
HGNC id 24579
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • three EF-hand domains
  • a helix-loop-helix (HLH) motif involved in coordinating the calcium ion
  • mono polymer homomer , dimer
    HOMOLOGY
    interspecies ortholog to murine CG9236
    ortholog to rattus Cib2
    intraspecies homolog to kip/B
    homolog to calcineurin
    homolog to calmodulin
    Homologene
    FAMILY
  • EF hand domain proteins family
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     plasma membrane,junction
        intracellular
    intracellular,cytoplasm
    text
  • in skeletal muscle, colocalizes with the integrin alpha7B subunit at the sarcolemma and at the neuromuscular and myotendinous junctions
  • in the cytoplasm of adult supporting cells, in the inner hair cell (IHC) and outer hair cell (OHC) cuticular plate and along the length of stereocilia
  • basic FUNCTION
  • may be a Ca2+-binding regulatory protein that interacts with DNA-dependent protein kinase catalytic subunit (DNA-PKcs)
  • having a role as a cytoplasmic effector of integrin alpha7Bbeta1D signaling in skeletal muscle
  • playing a role in Ca2+ signaling underlying NMDAR activation
  • significantly decreased the ATP-induced calcium responses in heterologous cells
  • function of CIB2 in the sensory cells of the ear and eye
  • required for proper phototransduction and prevention of light-dependent retinal degeneration
  • participates in calcium regulation in the mechanotransduction process,is critical for proper photoreceptor maintenance and function and has conserved roles in calcium homeostasis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • regulatory subunit
  • INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • may bind calcium Ca2+, and exhibits Ca2+/conformational switch
  • bind calcium (Ca(2+)) and magnesium (Mg(2+)) ions, and Ca(2+) and Mg(2+) ions stabilize the tertiary structures for CIB2 and CIB3 (
  • protein
  • interacting with DNA-PKcs
  • calcium-binding protein that interacts with integrin alpha7Bbeta1D
  • interacts with whirlin, which is localized at the tips of stereocilia, and myosin VIIa
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DFNB48 , USH1J
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS