Version: 8.0.0
Date: Tue Jan 28 2025
Cib2
Mus musculusMGI:1929293
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

Cib2

Species
Mus musculus
Symbol
Cib2
Name
calcium and integrin binding family member 2
Synonyms
  • 2810434I23Rik
  • AI449053
Biotype
protein coding gene
Automated Description
Enables calcium ion binding activity and integrin binding activity. Involved in calcium ion homeostasis and photoreceptor cell maintenance. Located in several cellular components, including muscle tendon junction; photoreceptor inner segment; and sarcolemma. Is expressed in several structures, including brain; gut; inner ear; integumental system; and skeletal musculature. Used to study autosomal recessive nonsyndromic deafness 48. Human ortholog(s) of this gene implicated in Usher syndrome type 1J and autosomal recessive nonsyndromic deafness 48. Orthologous to human CIB2 (calcium and integrin binding family member 2).
MGI Description
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal vestibular and retinal function but show an early onset profound deafness associated with abolished mechanoelectrical transduction currents and progressive postnatal degeneration of cochlear hair bundles. [provided by MGI curators]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR45791
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
Other Sources
Phenotype Term
Annotation details
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    Disease Associations

    Cases where the expected disease association was NOT found
    Cell color indicative of annotation volume
    No data available

    Alleles and Variants

    Allele/Variant Symbol
    Allele Synonyms
    Category
    Variant
    Variant type
    Molecular consequence
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      Transgenic Alleles

      Species
      (carrying the transgene)
      Allele symbol
      Transgenic construct
      Expressed components
      Knock-down targets
      Regulatory regions
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      Has Phenotype Annotations
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        Models

        Model name
        Experimental condition
        Associated Human Diseases
        Associated Phenotypes
        Modifier
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          Sequence Feature Viewer

          Genome location
          Assembly version
          GRCm39
          Viewer Help
          Data currently unavailable; sequence viewer under construction

          Sequence Details

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          Expression

          Primary Sources
          Other Sources
          Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

          Molecular Interactions

          Cib2 molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
          Source
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            Genetic Interactions

            Cib2 role
            Cib2 genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
            Reference
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