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    Cabp2 calcium binding protein 2 [ Mus musculus (house mouse) ]

    Gene ID: 29866, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Cabp2provided by MGI
    Official Full Name
    calcium binding protein 2provided by MGI
    Primary source
    MGI:MGI:1352749
    See related
    Ensembl:ENSMUSG00000024857 AllianceGenome:MGI:1352749
    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
    Summary
    Enables calcium channel regulator activity. Involved in sensory perception of sound and visual perception. Predicted to be located in Golgi apparatus and plasma membrane. Predicted to be active in cytoplasm. Used to study autosomal recessive nonsyndromic deafness 93. Human ortholog(s) of this gene implicated in autosomal recessive nonsyndromic deafness 93. Orthologous to human CABP2 (calcium binding protein 2). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in small intestine adult (RPKM 1.9), spleen adult (RPKM 1.5) and 4 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Cabp2 in Genome Data Viewer
    Location:
    19 A; 19 3.79 cM
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 19 NC_000085.7 (4131469..4137340)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 19 NC_000085.6 (4081469..4087340)

    Chromosome 19 - NC_000085.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 42060 Neighboring gene small nucleolar RNA, C/D box 3B, pseudogene 1 Neighboring gene STARR-positive B cell enhancer ABC_E84 Neighboring gene cyclin dependent kinase 2 associated protein 2 Neighboring gene CapStarr-seq enhancer MGSCv37_chr19:4103876-4104077 Neighboring gene phosphatidylinositol transfer protein, membrane-associated 1 Neighboring gene aryl-hydrocarbon receptor-interacting protein

    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 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. Functions of CaBP1 and CaBP2 in the peripheral auditory system. Yang T, et al. Hear Res, 2018 Jul. PMID 29661613, Free PMC Article
    2. Ca(2+)-binding protein 2 inhibits Ca(2+)-channel inactivation in mouse inner hair cells. Picher MM, et al. Proc Natl Acad Sci U S A, 2017 Feb 28. PMID 28183797, Free PMC Article
    3. Lack of CaBP1/Caldendrin or CaBP2 Leads to Altered Ganglion Cell Responses. Sinha R, et al. eNeuro, 2016 Sep-Oct. PMID 27822497, Free PMC Article
    4. Ca(2+)-binding proteins in the retina: from discovery to etiology of human disease(1). Sokal I, et al. Biochim Biophys Acta, 2000 Dec 20. PMID 11108966
    5. Five members of a novel Ca(2+)-binding protein (CABP) subfamily with similarity to calmodulin. Haeseleer F, et al. J Biol Chem, 2000 Jan 14. PMID 10625670, Free PMC Article

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Targeted (3)  1 citation

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC129493

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables calcium channel regulator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables calcium channel regulator activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in sensory perception of sound IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in visual perception IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in visual perception IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    calcium-binding 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_001160252.1 → NP_001153724.1  calcium-binding protein 2 isoform 2

      See identical proteins and their annotated locations for NP_001153724.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an in-frame coding exon, as compared to variant 1. The resulting isoform (2) lacks an internal segment, as compared to isoform 1.
      Source sequence(s)
      AF169156, BC107029
      Consensus CDS
      CCDS50349.1
      UniProtKB/TrEMBL
      G3XA16
      Related
      ENSMUSP00000124389.2, ENSMUST00000159556.8
      Conserved Domains (2) summary
      COG5126
      Location:20 → 168
      FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
      cd00051
      Location:104 → 167
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

    2. NM_001160253.1 → NP_001153725.1  calcium-binding protein 2 isoform 3

      See identical proteins and their annotated locations for NP_001153725.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks two 5' exons, but has an alternate 5' exon, as compared to variant 1. The resulting isoform (3) is shorter and has a different N-terminus, as compared to isoform 1.
      Source sequence(s)
      AF169156, AK007488, BC107029
      Consensus CDS
      CCDS50348.1
      UniProtKB/TrEMBL
      G5E8W3
      Related
      ENSMUSP00000125740.2, ENSMUST00000159148.8
      Conserved Domains (1) summary
      COG5126
      Location:53 → 203
      FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]

    3. NM_013878.2 → NP_038906.2  calcium-binding protein 2 isoform 1

      See identical proteins and their annotated locations for NP_038906.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AF169157, BC107029
      Consensus CDS
      CCDS29413.2
      UniProtKB/Swiss-Prot
      Q3KNX9, Q9JLK4, Q9JLK5
      UniProtKB/TrEMBL
      G3XA29
      Related
      ENSMUSP00000125255.2, ENSMUST00000162908.2
      Conserved Domains (2) summary
      COG5126
      Location:63 → 221
      FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
      cd00051
      Location:157 → 220
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

    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_000085.7 Reference GRCm39 C57BL/6J

      Range
      4131469..4137340
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006531766.2 → XP_006531829.1  calcium-binding protein 2 isoform X4

      See identical proteins and their annotated locations for XP_006531829.1

      Conserved Domains (1) summary
      COG5126
      Location:98 → 256
      FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]

    2. XM_006531769.2 → XP_006531832.1  calcium-binding protein 2 isoform X5

      See identical proteins and their annotated locations for XP_006531832.1

      UniProtKB/TrEMBL
      G5E8W3
      Conserved Domains (1) summary
      COG5126
      Location:53 → 203
      FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]

    3. XM_006531767.2 → XP_006531830.1  calcium-binding protein 2 isoform X4

      See identical proteins and their annotated locations for XP_006531830.1

      Conserved Domains (1) summary
      COG5126
      Location:98 → 256
      FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]

    4. XM_006531764.4 → XP_006531827.1  calcium-binding protein 2 isoform X2

      See identical proteins and their annotated locations for XP_006531827.1

      Conserved Domains (1) summary
      COG5126
      Location:149 → 307
      FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]

    5. XM_006531763.4 → XP_006531826.1  calcium-binding protein 2 isoform X1

      See identical proteins and their annotated locations for XP_006531826.1

      Conserved Domains (1) summary
      COG5126
      Location:166 → 324
      FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]

    6. XM_006531765.4 → XP_006531828.1  calcium-binding protein 2 isoform X3

      See identical proteins and their annotated locations for XP_006531828.1

      Conserved Domains (1) summary
      COG5126
      Location:121 → 271
      FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]

    7. XM_006531770.3 → XP_006531833.1  calcium-binding protein 2 isoform X6

      See identical proteins and their annotated locations for XP_006531833.1

      Conserved Domains (1) summary
      PTZ00184
      Location:50 → 194
      PTZ00184; calmodulin; Provisional
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9JLK4.3 GenPept UniProtKB/Swiss-Prot:Q9JLK4

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