Cacnb4 calcium channel, voltage-dependent, beta 4 subunit [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Cacnb4provided by MGI
Official Full Name: calcium channel, voltage-dependent, beta 4 subunitprovided by MGI
Primary source: MGI:MGI:103301
See related: Ensembl:ENSMUSG00000017412 AllianceGenome:MGI:103301
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: lh; Cchb4; 3110038O15Rik
Summary: Enables voltage-gated calcium channel activity involved in positive regulation of presynaptic cytosolic calcium levels. Involved in regulation of synaptic vesicle exocytosis. Acts upstream of or within several processes, including adult walking behavior; cellular response to leukemia inhibitory factor; and hematopoietic or lymphoid organ development. Located in glutamatergic synapse. Part of voltage-gated calcium channel complex. Is expressed in cerebellum; heart; and telencephalon. Human ortholog(s) of this gene implicated in dilated cardiomyopathy; episodic ataxia; episodic ataxia type 5; and idiopathic generalized epilepsy 9. Orthologous to human CACNB4 (calcium voltage-gated channel auxiliary subunit beta 4). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in cerebellum adult (RPKM 13.8), cortex adult (RPKM 11.2) and 4 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 C1.1; 2 29.98 cM

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (52318332..52566816, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (52428320..52676609, complement)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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?

Study demonstrates that the lack of the voltage-gated calcium channel beta4 subunit causes a decreased late development in cerebellar cortical networks, characterized by reduced parallel fibre-purkinje cell input, shorter purkinje cell dendrites and depressed purkinje cell output.
Title: Loss of the calcium channel β4 subunit impairs parallel fibre volley and Purkinje cell firing in cerebellum of adult ataxic mice.
The nuclear targeting properties of the truncated beta(4b(1-481)) subunit in tsA-201 cells, skeletal myotubes, and in hippocampal neurons, were investigated.
Title: The juvenile myoclonic epilepsy mutant of the calcium channel β(4) subunit displays normal nuclear targeting in nerve and muscle cells.
an alternatively spliced beta4 subunit of voltage-gated calcium channels lacking the variable N terminus (beta4e) is identified
Title: Differential neuronal targeting of a new and two known calcium channel β4 subunit splice variants correlates with their regulation of gene expression.
Cacnb4 directly couples electrical activity to gene expression, a process defective in juvenile epilepsy
Title: Cacnb4 directly couples electrical activity to gene expression, a process defective in juvenile epilepsy.
Ca(v) beta(4) protein was detected throughout the developing cerebellum, particularly in the molecular layer, and in contrast to the other subunits, Ca(v) beta(4) was mainly detected in the molecular layer and the hilus of the hippocampus.
Title: Regional expression and subcellular localization of the voltage-gated calcium channel β subunits in the developing mouse brain.
The Ca2+ channel beta4c subunit interacts with heterochromatin protein 1 gama via a PXVXL binding motif.
Title: The Ca2+ channel beta4c subunit interacts with heterochromatin protein 1 via a PXVXL binding motif.
Cacnb4 is associated with acute lung injury
Title: Haplotype association mapping of acute lung injury in mice implicates activin a receptor, type 1.
analysis of calcium channel beta4b subunit nuclear targeting in nerve and muscle cells
Title: Activity and calcium regulate nuclear targeting of the calcium channel beta4b subunit in nerve and muscle cells.
neither Ca(V)beta3 nor Ca(V)beta4 are indispensable for hair cell Ca(2+) currents but contribute to the overall current properties
Title: Ba2+ currents in inner and outer hair cells of mice lacking the voltage-dependent Ca2+ channel subunits beta3 or beta4.
Paroxysmal dyskinesias as well as absence epilepsy, chronic ataxia, and hypoactivity noted in the lethargic mouse mutant with CCHB4 gene mutation
Title: Paroxysmal dyskinesias in the lethargic mouse mutant.

Submit: New GeneRIF Correction See all GeneRIFs (11)

Variation

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Alleles

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

Spontaneous (4)
Targeted (1)
Endonuclease-mediated (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH129575 (e-PCR)
- UniSTS:212876

NoName (e-PCR)
- UniSTS:234389

RH118250 (e-PCR)
- UniSTS:160921

NoName (e-PCR)
- UniSTS:482288

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables calcium channel activity	IEA Inferred from Electronic Annotation 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 protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	ISO Inferred from Sequence Orthology more info
enables voltage-gated calcium channel activity	IMP Inferred from Mutant Phenotype more info	PubMed
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
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
acts_upstream_of_or_within Peyer's patch development	IMP Inferred from Mutant Phenotype more info	PubMed
NOT acts_upstream_of_or_within T cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within T cell receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within adult walking behavior	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cAMP metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
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	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in calcium ion transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cellular response to leukemia inhibitory factor	IEP Inferred from Expression Pattern more info	PubMed
involved_in chemical synaptic transmission	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within detection of light stimulus involved in visual perception	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within gamma-aminobutyric acid secretion	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within gamma-aminobutyric acid signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within intracellular calcium ion homeostasis	IMP Inferred from Mutant Phenotype 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
acts_upstream_of_or_within muscle cell development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of G1/S transition of mitotic cell cycle	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of cell population proliferation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within nervous system process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neuromuscular junction development	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within neuromuscular junction development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuronal action potential propagation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein localization to nucleolus	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of membrane potential	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of synaptic vesicle exocytosis	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of synaptic vesicle exocytosis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of voltage-gated calcium channel activity	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of voltage-gated calcium channel activity	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within spleen development	IMP Inferred from Mutant Phenotype more info	PubMed
NOT acts_upstream_of_or_within synaptic transmission, GABAergic	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within synaptic transmission, glutamatergic	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within thymus development	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in glutamatergic synapse	IC Inferred by Curator more info	PubMed
is_active_in glutamatergic synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in glutamatergic synapse	IMP Inferred from Mutant Phenotype more info	PubMed
part_of monoatomic ion channel complex	IEA Inferred from Electronic Annotation more info
located_in nuclear speck	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	TAS Traceable Author Statement more info
is_active_in presynapse	ISO Inferred from Sequence Orthology more info
located_in synapse	ISO Inferred from Sequence Orthology 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	IMP Inferred from Mutant Phenotype 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-4

Names: CAB4; calcium channel voltage-dependent subunit beta 4

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_001037099.3 → NP_001032176.1 voltage-dependent L-type calcium channel subunit beta-4 isoform a

See identical proteins and their annotated locations for NP_001032176.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longest protein (isoform a).

Source sequence(s)

AL845467, AL928960

Consensus CDS

CCDS16034.1

UniProtKB/Swiss-Prot

Q3UHK2, Q8BRN6, Q8CAJ9, Q8R0S4

UniProtKB/TrEMBL

A2ATZ8, J3QK20

Related

ENSMUSP00000077438.7, ENSMUST00000078324.7

Conserved Domains (3) summary

cd12043
Location:90 → 157

SH3_CACNB4; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta4

pfam12052
Location:49 → 90

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

cl27059
Location:217 → 397

Guanylate_kin; Guanylate kinase
NM_001285426.2 → NP_001272355.1 voltage-dependent L-type calcium channel subunit beta-4 isoform c

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and CDS, and uses a downstream start codon compared to variant 1. The resulting protein (isoform c) has a shorter N-terminus compared to isoform a.

Source sequence(s)

AL845467, AL928960

UniProtKB/TrEMBL

Q3TYI5

Conserved Domains (3) summary

cd12043
Location:73 → 140

SH3_CACNB4; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta4

pfam00625
Location:200 → 380

Guanylate_kin; Guanylate kinase

pfam12052
Location:32 → 73

VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal
NM_001285427.2 → NP_001272356.1 voltage-dependent L-type calcium channel subunit beta-4 isoform d

See identical proteins and their annotated locations for NP_001272356.1

Status: VALIDATED

Description

Transcript Variant: This variant (4) differs in the 5' UTR and lacks a portion of the 5' coding region compared to variant 1. This results in the use of a downstream start codon. The resulting protein (isoform d) is shorter and has a distinct N-terminus compared to isoform a.

Source sequence(s)

AL845467, AL928960

Consensus CDS

CCDS71052.1

UniProtKB/TrEMBL

Q3TYI5

Related

ENSMUSP00000099822.3, ENSMUST00000102761.9

Conserved Domains (3) summary

cd12043
Location:44 → 111

SH3_CACNB4; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta4

pfam00625
Location:171 → 351

Guanylate_kin; Guanylate kinase

pfam12052
Location:3 → 44

VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal
NM_001285428.1 → NP_001272357.1 voltage-dependent L-type calcium channel subunit beta-4 isoform e

Status: VALIDATED

Description

Transcript Variant: This variant (5) differs in the 5' UTR, lacks a portion of the 5' coding region and uses a downstream start codon compared to variant 1. The resulting protein (isoform e) is shorter and has a distinct N-terminus compared to isoform a.

Source sequence(s)

AK158606, AL845467

UniProtKB/TrEMBL

Q3TYI5

Conserved Domains (2) summary

pfam00625
Location:32 → 212

Guanylate_kin; Guanylate kinase

cl17190
Location:42 → 213

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_001355059.2 → NP_001341988.1 voltage-dependent L-type calcium channel subunit beta-4 isoform f

Status: VALIDATED

Description

Transcript Variant: This variant (6) differs in the 5' UTR and lacks a portion of the 5' coding region compared to variant 1. This results in the use of a downstream start codon. The resulting protein (isoform f) is shorter and has a distinct N-terminus compared to isoform a.

Source sequence(s)

AL845467, AL928960

Conserved Domains (1) summary

pfam00625
Location:65 → 245

Guanylate_kin; Guanylate kinase
NM_146123.4 → NP_666235.1 voltage-dependent L-type calcium channel subunit beta-4 isoform b

See identical proteins and their annotated locations for NP_666235.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and lacks a portion of the 5' coding region compared to variant 1. This results in the use of a downstream start codon. The resulting protein (isoform b) is shorter and has a distinct N-terminus compared to isoform a.

Source sequence(s)

AL845467, AL928960

Consensus CDS

CCDS16035.1

UniProtKB/TrEMBL

Q3TYI5

Related

ENSMUSP00000099821.4, ENSMUST00000102760.10

Conserved Domains (3) summary

cd12043
Location:57 → 124

SH3_CACNB4; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta4

pfam00625
Location:184 → 364

Guanylate_kin; Guanylate kinase

pfam12052
Location:16 → 57

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

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

52318332..52566816 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036157800.1 → XP_036013693.1 voltage-dependent L-type calcium channel subunit beta-4 isoform X4

Conserved Domains (1) summary

pfam00625
Location:40 → 220

Guanylate_kin; Guanylate kinase
XM_036157798.1 → XP_036013691.1 voltage-dependent L-type calcium channel subunit beta-4 isoform X3

Conserved Domains (1) summary

pfam00625
Location:65 → 245

Guanylate_kin; Guanylate kinase
XM_036157797.1 → XP_036013690.1 voltage-dependent L-type calcium channel subunit beta-4 isoform X2

UniProtKB/TrEMBL

Q3TYI5

Conserved Domains (3) summary

cd12043
Location:44 → 111

SH3_CACNB4; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta4

pfam00625
Location:171 → 351

Guanylate_kin; Guanylate kinase

pfam12052
Location:3 → 44

VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal
XM_036157799.1 → XP_036013692.1 voltage-dependent L-type calcium channel subunit beta-4 isoform X4

Conserved Domains (1) summary

pfam00625
Location:40 → 220

Guanylate_kin; Guanylate kinase
XM_006497641.5 → XP_006497704.1 voltage-dependent L-type calcium channel subunit beta-4 isoform X2

See identical proteins and their annotated locations for XP_006497704.1

UniProtKB/TrEMBL

Q3TYI5

Conserved Domains (3) summary

cd12043
Location:44 → 111

SH3_CACNB4; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta4

pfam00625
Location:171 → 351

Guanylate_kin; Guanylate kinase

pfam12052
Location:3 → 44

VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal
XM_030247010.2 → XP_030102870.1 voltage-dependent L-type calcium channel subunit beta-4 isoform X3

Conserved Domains (1) summary

pfam00625
Location:65 → 245

Guanylate_kin; Guanylate kinase
XM_006497642.5 → XP_006497705.1 voltage-dependent L-type calcium channel subunit beta-4 isoform X3

Conserved Domains (1) summary

pfam00625
Location:65 → 245

Guanylate_kin; Guanylate kinase
XM_036157801.1 → XP_036013694.1 voltage-dependent L-type calcium channel subunit beta-4 isoform X4

Conserved Domains (1) summary

pfam00625
Location:40 → 220

Guanylate_kin; Guanylate kinase
XM_036157802.1 → XP_036013695.1 voltage-dependent L-type calcium channel subunit beta-4 isoform X4

Conserved Domains (1) summary

pfam00625
Location:40 → 220

Guanylate_kin; Guanylate kinase
XM_017315163.2 → XP_017170652.1 voltage-dependent L-type calcium channel subunit beta-4 isoform X2

UniProtKB/TrEMBL

Q3TYI5

Conserved Domains (3) summary

cd12043
Location:44 → 111

SH3_CACNB4; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta4

pfam00625
Location:171 → 351

Guanylate_kin; Guanylate kinase

pfam12052
Location:3 → 44

VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal
XM_036157796.1 → XP_036013689.1 voltage-dependent L-type calcium channel subunit beta-4 isoform X1

UniProtKB/TrEMBL

Q3TYI5

Conserved Domains (3) summary

cd12043
Location:56 → 123

SH3_CACNB4; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta4

pfam00625
Location:183 → 363

Guanylate_kin; Guanylate kinase

pfam12052
Location:15 → 56

VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal
XM_036157807.1 → XP_036013700.1 voltage-dependent L-type calcium channel subunit beta-4 isoform X6

Conserved Domains (1) summary

pfam00625
Location:3 → 147

Guanylate_kin; Guanylate kinase
XM_036157805.1 → XP_036013698.1 voltage-dependent L-type calcium channel subunit beta-4 isoform X5

Conserved Domains (1) summary

pfam00625
Location:1 → 180

Guanylate_kin; Guanylate kinase
XM_036157808.1 → XP_036013701.1 voltage-dependent L-type calcium channel subunit beta-4 isoform X6

Conserved Domains (1) summary

pfam00625
Location:3 → 147

Guanylate_kin; Guanylate kinase