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

Gene ID: 29866, updated on 27-Nov-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, Nov 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

Expression

  • 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

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)

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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_001160252.1NP_001153724.1  calcium-binding protein 2 isoform 2

    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

    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

    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

    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

    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

    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

    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

    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

    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

    Conserved Domains (1) summary
    PTZ00184
    Location:50194
    PTZ00184; calmodulin; Provisional