Cacnb2 calcium channel, voltage-dependent, beta 2 subunit [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Cacnb2provided by MGI
Official Full Name: calcium channel, voltage-dependent, beta 2 subunitprovided by MGI
Primary source: MGI:MGI:894644
See related: Ensembl:ENSMUSG00000057914 AllianceGenome:MGI:894644
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: CAB2; Cchb2; Cavbeta2
Summary: Enables actin filament binding activity and voltage-gated calcium channel activity involved in positive regulation of presynaptic cytosolic calcium levels. Acts upstream of or within chemical synaptic transmission and visual perception. Part of voltage-gated calcium channel complex. Is active in photoreceptor ribbon synapse. Is expressed in several structures, including alimentary system; eye; genitourinary system; heart; and nervous system. Human ortholog(s) of this gene implicated in Brugada syndrome 4; hypertension; and hypertrophic cardiomyopathy. Orthologous to human CACNB2 (calcium voltage-gated channel auxiliary subunit beta 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in heart adult (RPKM 6.4), cerebellum adult (RPKM 5.3) and 18 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 A2; 2 10.7 cM

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (14608672..14993622)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (14603861..14988811)

Chromosome 2 - NC_000068.8 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?

A novel calcium channel Cavbeta2 splice variant with unique properties predominates in the retina.
Title: A novel calcium channel Cavβ(2) splice variant with unique properties predominates in the retina.
Requirement of the Ca(2+) channel beta2 subunit for sympathetic PKA phosphorylation.
Title: Requirement of the Ca(2+) channel β(2) subunit for sympathetic PKA phosphorylation.
L-type Ca2+ channels in the caveolae microdomain do not affect cardiac function and are not necessary for the regulation of hypertrophic signaling in the adult mouse heart.
Title: Caveolae-localized L-type Ca2+ channels do not contribute to function or hypertrophic signalling in the mouse heart.
Many hormone- or neurotransmitter-activated receptors stimulate PIP2 hydrolysis and increase cytosolic Ca(2+); thus, our findings suggest that beta2e may integrate such receptor-mediated signals to limit Cav activity.
Title: Ca2+ controls gating of voltage-gated calcium channels by releasing the β2e subunit from the plasma membrane.
Membrane Interaction of the beta2e Subunit of Voltage-Gated Ca(2+) Channels
Title: Molecular Basis of the Membrane Interaction of the β2e Subunit of Voltage-Gated Ca(2+) Channels.
Dynamic phospholipid interaction of beta2e subunit regulates the gating of voltage-gated Ca2+ channels.
Title: Dynamic phospholipid interaction of β2e subunit regulates the gating of voltage-gated Ca2+ channels.
a model in which CaVbeta promotes anterograde trafficking of the L-type channels by anchoring them to actin filaments in their itinerary to the plasma membrane.
Title: Direct interaction of CaVβ with actin up-regulates L-type calcium currents in HL-1 cardiomyocytes.
We conclude that phosphorylation of the C-terminal sites in Ca(v)beta(2), Ser(1928), Ser(1512), and Ser(1570) of the Ca(v)1.2 protein is functionally not involved in the adrenergic regulation of the murine cardiac Ca(v)1.2 channel.
Title: Deletion of the C-terminal phosphorylation sites in the cardiac β-subunit does not affect the basic β-adrenergic response of the heart and the Ca(v)1.2 channel.
phosphorylation event is one mechanism underlying ahnak1's modulator function on Cav1.2 channel activity.
Title: Ahnak1 interaction is affected by phosphorylation of Ser-296 on Cavβ₂.
Ca(V)beta2 appears to be a much stronger modulator of L-type calcium currents in embryonic than in adult cardiomyocytes
Title: Moderate calcium channel dysfunction in adult mice with inducible cardiomyocyte-specific excision of the cacnb2 gene.

Submit: New GeneRIF Correction See all GeneRIFs (15)

Variation

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Alleles

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

Targeted (7) 1 citation
Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D10S2356 (e-PCR)
- UniSTS:8708

G15938 (e-PCR)
- UniSTS:79201

AW060387 (e-PCR)
- UniSTS:178574

D17Arb12 (e-PCR)
- UniSTS:240071

D2Mit360 (e-PCR), detects polymorphism
- UniSTS:129255

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables actin filament binding	IDA Inferred from Direct Assay more info	PubMed
enables actin filament binding	ISO Inferred from Sequence Orthology more info
enables calcium channel activity	IEA Inferred from Electronic Annotation more info
enables calcium channel regulator activity	ISO Inferred from Sequence Orthology more info
enables high voltage-gated calcium channel activity	IBA Inferred from Biological aspect of Ancestor more info
contributes_to high voltage-gated calcium channel activity	ISO Inferred from Sequence Orthology more info
enables high voltage-gated calcium channel activity	TAS Traceable Author Statement more info	PubMed
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables phosphoprotein binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein domain specific binding	ISO Inferred from Sequence Orthology more info
enables protein kinase binding	ISO Inferred from Sequence Orthology more info
contributes_to voltage-gated calcium channel activity	ISO Inferred from Sequence Orthology more info
enables voltage-gated calcium channel activity	ISO Inferred from Sequence Orthology more info
contributes_to voltage-gated calcium channel activity involved in AV node cell action potential	ISO Inferred from Sequence Orthology more info
contributes_to voltage-gated calcium channel activity involved in cardiac muscle cell action potential	ISO Inferred from Sequence Orthology more info
enables voltage-gated calcium channel activity involved in regulation of presynaptic cytosolic calcium levels	IDA Inferred from Direct Assay more info	PubMed
enables voltage-gated calcium channel activity involved in regulation of presynaptic cytosolic calcium levels	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
involved_in calcium ion import	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within calcium ion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in calcium ion transmembrane transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within calcium ion transport	IEA Inferred from Electronic Annotation more info
involved_in chemical synaptic transmission	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within chemical synaptic transmission	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in membrane depolarization during AV node cell action potential	ISO Inferred from Sequence Orthology more info
involved_in membrane depolarization during atrial cardiac muscle cell action potential	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within monoatomic ion transmembrane transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within monoatomic ion transport	IEA Inferred from Electronic Annotation more info
involved_in neuromuscular junction development	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of calcium ion transmembrane transport via high voltage-gated calcium channel	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of calcium ion transport	ISO Inferred from Sequence Orthology more info
involved_in protein localization to plasma membrane	ISO Inferred from Sequence Orthology more info
involved_in regulation of heart rate by cardiac conduction	ISO Inferred from Sequence Orthology more info
involved_in regulation of voltage-gated calcium channel activity	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within visual perception	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of L-type voltage-gated calcium channel complex	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
part_of monoatomic ion channel complex	IEA Inferred from Electronic Annotation more info
is_active_in photoreceptor ribbon synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in photoreceptor ribbon synapse	IMP Inferred from Mutant Phenotype more info	PubMed
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	TAS Traceable Author Statement more info
part_of voltage-gated calcium channel complex	IBA Inferred from Biological aspect of Ancestor more info
part_of voltage-gated calcium channel complex	IDA Inferred from Direct Assay more info	PubMed
part_of voltage-gated calcium channel complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: voltage-dependent L-type calcium channel subunit beta-2

Names: calcium channel voltage-dependent beta 2 subunit isoform N4a; calcium channel voltage-dependent beta 2 subunit isoform N4b

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_001252533.2 → NP_001239462.1 voltage-dependent L-type calcium channel subunit beta-2 isoform 2

See identical proteins and their annotated locations for NP_001239462.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) is shorter and has a distinct N-terminus, compared to isoform 1.

Source sequence(s)

AL928632, AL929165

Consensus CDS

CCDS79735.1

UniProtKB/TrEMBL

A0A9E9EN88, C7IVS7

Related

ENSMUSP00000141221.2, ENSMUST00000193800.6

Conserved Domains (4) summary

cd12040
Location:58 → 126

SH3_CACNB2; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta2

pfam00625
Location:226 → 407

Guanylate_kin; Guanylate kinase

pfam12052
Location:18 → 59

VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal

cl17190
Location:236 → 408

NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...
NM_001309519.2 → NP_001296448.1 voltage-dependent L-type calcium channel subunit beta-2 isoform 3

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (3) has a shorter and distinct N-terminus, compared to isoform 1.

Source sequence(s)

AL928632

Consensus CDS

CCDS84473.1

UniProtKB/TrEMBL

A0A9E9EN88

Related

ENSMUSP00000110367.2, ENSMUST00000114719.7

Conserved Domains (4) summary

cd12040
Location:64 → 132

SH3_CACNB2; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta2

pfam00625
Location:232 → 413

Guanylate_kin; Guanylate kinase

pfam12052
Location:24 → 65

VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal

cl17190
Location:242 → 414

NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...
NM_001406090.1 → NP_001393019.1 voltage-dependent L-type calcium channel subunit beta-2 isoform 4

Status: VALIDATED

Source sequence(s)

AL928632, AL935312
NM_001406091.1 → NP_001393020.1 voltage-dependent L-type calcium channel subunit beta-2 isoform 5

Status: VALIDATED

Source sequence(s)

AL928632
NM_001406092.1 → NP_001393021.1 voltage-dependent L-type calcium channel subunit beta-2 isoform 6

Status: VALIDATED

Source sequence(s)

AL928632, AL929165

Related

ENSMUST00000193262.6
NM_001406093.1 → NP_001393022.1 voltage-dependent L-type calcium channel subunit beta-2 isoform 7

Status: VALIDATED

Source sequence(s)

AL928632, AL929165

UniProtKB/TrEMBL

A0A0A7NQN9
NM_001406094.1 → NP_001393023.1 voltage-dependent L-type calcium channel subunit beta-2 isoform 8

Status: VALIDATED

Source sequence(s)

AL928632
NM_001406095.1 → NP_001393024.1 voltage-dependent L-type calcium channel subunit beta-2 isoform 9

Status: VALIDATED

Source sequence(s)

AL928632, AL929165
NM_001406096.1 → NP_001393025.1 voltage-dependent L-type calcium channel subunit beta-2 isoform 10

Status: VALIDATED

Source sequence(s)

AL928632, AL929165
NM_001406097.1 → NP_001393026.1 voltage-dependent L-type calcium channel subunit beta-2 isoform 10

Status: VALIDATED

Source sequence(s)

AL928632
NM_023116.5 → NP_075605.1 voltage-dependent L-type calcium channel subunit beta-2 isoform 1

See identical proteins and their annotated locations for NP_075605.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AL928632, AL935312

Consensus CDS

CCDS15702.1

UniProtKB/Swiss-Prot

A2ASJ8, Q8C5J5, Q8CC27, Q9CTQ6

UniProtKB/TrEMBL

A0A9E9EN88, Q32MF3

Related

ENSMUSP00000110371.3, ENSMUST00000114723.9

Conserved Domains (4) summary

cd12040
Location:108 → 176

SH3_CACNB2; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta2

pfam00625
Location:276 → 457

Guanylate_kin; Guanylate kinase

pfam12052
Location:68 → 109

VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal

cl17190
Location:286 → 458

NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...

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

NC_000068.8 Reference GRCm39 C57BL/6J

Range

14608672..14993622

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006497313.4 → XP_006497376.1 voltage-dependent L-type calcium channel subunit beta-2 isoform X1

See identical proteins and their annotated locations for XP_006497376.1

UniProtKB/TrEMBL

A0A9E9EN88

Conserved Domains (3) summary

cd12040
Location:108 → 176

SH3_CACNB2; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta2

pfam00625
Location:276 → 456

Guanylate_kin; Guanylate kinase

pfam12052
Location:68 → 109

VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal
XM_006497317.4 → XP_006497380.1 voltage-dependent L-type calcium channel subunit beta-2 isoform X4

UniProtKB/TrEMBL

A0A9E9EN88

Conserved Domains (3) summary

cd12040
Location:108 → 176

SH3_CACNB2; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta2

pfam00625
Location:238 → 419

Guanylate_kin; Guanylate kinase

pfam12052
Location:68 → 109

VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal
XM_006497318.4 → XP_006497381.1 voltage-dependent L-type calcium channel subunit beta-2 isoform X6

UniProtKB/TrEMBL

A0A9E9EN88

Conserved Domains (3) summary

cd12040
Location:108 → 176

SH3_CACNB2; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta2

pfam00625
Location:238 → 418

Guanylate_kin; Guanylate kinase

pfam12052
Location:68 → 109

VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal
XM_006497315.4 → XP_006497378.1 voltage-dependent L-type calcium channel subunit beta-2 isoform X3

UniProtKB/TrEMBL

A0A9E9EN88

Conserved Domains (3) summary

cd12040
Location:84 → 152

SH3_CACNB2; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta2

pfam00625
Location:252 → 432

Guanylate_kin; Guanylate kinase

pfam12052
Location:44 → 85

VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal
XM_036157789.1 → XP_036013682.1 voltage-dependent L-type calcium channel subunit beta-2 isoform X9

UniProtKB/TrEMBL

A0A9E9EN88

Conserved Domains (3) summary

cd12040
Location:84 → 152

SH3_CACNB2; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta2

pfam00625
Location:214 → 395

Guanylate_kin; Guanylate kinase

pfam12052
Location:44 → 85

VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal
XM_006497321.4 → XP_006497384.1 voltage-dependent L-type calcium channel subunit beta-2 isoform X10

UniProtKB/TrEMBL

A0A9E9EN88

Conserved Domains (3) summary

cd12040
Location:84 → 152

SH3_CACNB2; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta2

pfam00625
Location:214 → 394

Guanylate_kin; Guanylate kinase

pfam12052
Location:44 → 85

VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal
XM_036157788.1 → XP_036013681.1 voltage-dependent L-type calcium channel subunit beta-2 isoform X5

UniProtKB/TrEMBL

A0A9E9EN88

Conserved Domains (3) summary

cd12040
Location:69 → 137

SH3_CACNB2; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta2

pfam00625
Location:237 → 418

Guanylate_kin; Guanylate kinase

pfam12052
Location:29 → 70

VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal