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    Cib2 calcium and integrin binding family member 2 [ Mus musculus (house mouse) ]

    Gene ID: 56506, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Cib2provided by MGI
    Official Full Name
    calcium and integrin binding family member 2provided by MGI
    Primary source
    MGI:MGI:1929293
    See related
    Ensembl:ENSMUSG00000037493 AllianceGenome:MGI:1929293
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    KIP2; KIP 2; 2810434I23Rik
    Summary
    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). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in subcutaneous fat pad adult (RPKM 48.8), mammary gland adult (RPKM 40.3) and 19 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Cib2 in Genome Data Viewer
    Location:
    9 A5.3; 9 29.7 cM
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (54452074..54467512, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (54544794..54560190, complement)

    Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene gliomedin, opposite strand Neighboring gene gliomedin Neighboring gene STARR-seq mESC enhancer starr_24167 Neighboring gene STARR-seq mESC enhancer starr_24168 Neighboring gene Dmx-like 2 Neighboring gene STARR-seq mESC enhancer starr_24169 Neighboring gene SH2 domain containing 7 Neighboring gene STARR-positive B cell enhancer ABC_E888 Neighboring gene STARR-seq mESC enhancer starr_24171 Neighboring gene isocitrate dehydrogenase 3 (NAD+) alpha Neighboring gene acyl-CoA synthetase bubblegum family member 1 Neighboring gene predicted gene, 51677

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. CIB2 Is a Novel Endogenous Repressor of Atrial Remodeling. Wang Y, et al. Circulation, 2023 Jun 6. PMID 37128899
    2. CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival. Michel V, et al. EMBO Mol Med, 2017 Dec. PMID 29084757, Free PMC Article
    3. CIB2 and CIB3 Regulate Stereocilia Maintenance and Mechanoelectrical Transduction in Mouse Vestibular Hair Cells. Wang X, et al. J Neurosci, 2023 May 3. PMID 37001993, Free PMC Article
    4. Structure, expression profile and chromosomal location of an isolog of DNA-PKcs interacting protein (KIP) gene. Seki N, et al. Biochim Biophys Acta, 1999 Jan 18. PMID 9931475
    5. CIB2 regulates mTORC1 signaling and is essential for autophagy and visual function. Sethna S, et al. Nat Commun, 2021 Jun 23. PMID 34162842, Free PMC Article

    See all (34) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CIB2 Is a Novel Endogenous Repressor of Atrial Remodeling.
      Title: CIB2 Is a Novel Endogenous Repressor of Atrial Remodeling.
    2. CIB2 and CIB3 Regulate Stereocilia Maintenance and Mechanoelectrical Transduction in Mouse Vestibular Hair Cells.
      Title: CIB2 and CIB3 Regulate Stereocilia Maintenance and Mechanoelectrical Transduction in Mouse Vestibular Hair Cells.
    3. CIB2 regulates mTORC1 signaling and is essential for autophagy and visual function.
      Title: CIB2 regulates mTORC1 signaling and is essential for autophagy and visual function.
    4. This study showed that calcium and integrin-binding protein 2 binds to the components of the hair cell mechanotransduction complex, TMC1 and TMC2, and these interactions are disrupted by deafness-causing Cib2 mutations.
      Title: CIB2 interacts with TMC1 and TMC2 and is essential for mechanotransduction in auditory hair cells.
    5. Cib2 binds integrin alpha7Bbeta1D and is reduced in laminin alpha2 chain-deficient muscular dystrophy
      Title: Cib2 binds integrin alpha7Bbeta1D and is reduced in laminin alpha2 chain-deficient muscular dystrophy.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables calcium ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables calcium ion binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables calcium ion binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables integrin binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables magnesium ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables magnesium ion binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables magnesium ion binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein homodimerization activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables protein homodimerization activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables protein-containing complex binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in calcium ion homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in calcium ion homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cellular response to ATP ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in cellular response to ATP ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in photoreceptor cell maintenance IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of cytosolic calcium ion concentration ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of cytosolic calcium ion concentration ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cell periphery IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cuticular plate ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cuticular plate ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in muscle tendon junction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in neuromuscular junction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in photoreceptor inner segment IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in photoreceptor outer segment IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in sarcolemma IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in stereocilium IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in stereocilium IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in stereocilium ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in stereocilium ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    calcium and integrin-binding family member 2
    Names
    calcium binding protein Kip2
    kinase-interacting protein 2

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_019686.6 → NP_062660.1  calcium and integrin-binding family member 2

      See identical proteins and their annotated locations for NP_062660.1

      Status: VALIDATED

      Source sequence(s)
      AB016080, AI842389, AK013240, DN175059
      Consensus CDS
      CCDS40642.1
      UniProtKB/Swiss-Prot
      Q9Z309
      UniProtKB/TrEMBL
      Q544Z8
      Related
      ENSMUSP00000038527.7, ENSMUST00000041901.7
      Conserved Domains (1) summary
      COG5126
      Location:68 → 178
      FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000075.7 Reference GRCm39 C57BL/6J

      Range
      54452074..54467512 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036155147.1 → XP_036011040.1  calcium and integrin-binding family member 2 isoform X1

      Conserved Domains (1) summary
      COG5126
      Location:25 → 135
      FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]

    2. XM_036155148.1 → XP_036011041.1  calcium and integrin-binding family member 2 isoform X1

      Conserved Domains (1) summary
      COG5126
      Location:25 → 135
      FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Z309.1 GenPept UniProtKB/Swiss-Prot:Q9Z309

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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