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

    Gene ID: 29866, updated on 9-Dec-2024

    Summary

    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, Dec 2024]
    Expression
    Biased expression in small intestine adult (RPKM 1.9), spleen adult (RPKM 1.5) and 4 other tissues See more
    Orthologs
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    Genomic context

    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

    Bibliography

    Variation

    Alleles

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

    General gene information

    Markers

    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
     

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001160252.1NP_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:20168
      FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
      cd00051
      Location:104167
      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_001160253.1NP_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:53203
      FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
    3. NM_013878.2NP_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:63221
      FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
      cd00051
      Location:157220
      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_006531766.2XP_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:98256
      FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
    2. XM_006531769.2XP_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:53203
      FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
    3. XM_006531767.2XP_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:98256
      FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
    4. XM_006531764.4XP_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:149307
      FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
    5. XM_006531763.4XP_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:166324
      FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
    6. XM_006531765.4XP_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:121271
      FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
    7. XM_006531770.3XP_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:50194
      PTZ00184; calmodulin; Provisional