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

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. 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, Apr 2022]
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

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_000085.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

CaBP1 and CaBP2 are required for the normal function of the peripheral auditory system.
Title: Functions of CaBP1 and CaBP2 in the peripheral auditory system.
CaBP2 inhibits CaV1.3 Ca(2+)-channel inactivation.
Title: Ca(2+)-binding protein 2 inhibits Ca(2+)-channel inactivation in mouse inner hair cells.
Results show that CaBP1/caldendrin and CaBP2 are not required for normal gross retinal and synapse morphology but are necessary for the proper transmission of light responses through the retina; CaBP1/caldendrin and CaBP2 likely act by modulating presynaptic Ca(2+)-dependent signaling mechanisms.
Title: Lack of CaBP1/Caldendrin or CaBP2 Leads to Altered Ganglion Cell Responses.

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Variation

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Alleles

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

Targeted (3) 1 citation
Endonuclease-mediated (2)

General gene information

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Markers

NoName (e-PCR)
- UniSTS:237867

NoName (e-PCR)
- UniSTS:487781

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
enables metal ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within response to stimulus	IEA Inferred from Electronic Annotation more info
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 membrane	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)

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 ...
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]
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 ...