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FLASH GENE
Symbol CIB2 contributors: mct - updated : 03-04-2013
HGNC name calcium and integrin binding family member 2
HGNC id 24579
Corresponding disease
DFNB48 neurosensory deafness 48
USH1J Usher syndrome, type IJ
Location 15q25.1      Physical location : 78.396.990 - 78.423.878
Genatlas name calmyrin 2
Synonym name
  • DNA-PK interacting protein 2
  • kinase-interacting protein 2
  • DNA-dependent protein kinase catalytic subunit-interacting protein 2
    • Synonym symbol(s) KIP2, 2810434I23Rik, CAMY2, USH1J, DFNB48
    DNA
    TYPE functioning gene
    STRUCTURE 26.89 kb     6 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 - 1580 21.6 187 - 2012 23023331
  • CIB2 isoform B
    • - - 1476 - 138 - 2012 23023331
    4 - 1588 - 144 - 2012 23023331
    Cib2 isoform A
    6 - 1300 24.15 210 - 2012 23023331
    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