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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
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Hearing/Equilibriumearinnercochlea highly Homo sapiensAdult
Nervousbrainforebraincerebral cortex moderately Homo sapiens
 brainlimbic systemhippocampus moderately Homo sapiens
 brain   highly Homo sapiensAdultmRNA
Visualeyeretina  highly Homo sapiensAdult
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumskeletal highly Homo sapiens
Muscularstriatumskeletal highly Homo sapiensAdultmRNA
cells
SystemCellPubmedSpeciesStageRna symbol
Hearing / Equilibriumhair cell receptor Homo sapiensAdult
Hearing / Equilibriumstereocilia Homo sapiensAdult
Visualrod photoreceptor Homo sapiensAdult
cell lineage
cell lines
fluid/secretion
at STAGE
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