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

    Gene ID: 12298, updated on 9-Dec-2024

    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 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. Part of voltage-gated calcium channel complex. Is active in glutamatergic synapse. Is expressed in brain; heart; and urinary system. 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, Dec 2024]
    Expression
    Biased expression in cerebellum adult (RPKM 13.8), cortex adult (RPKM 11.2) and 4 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See Cacnb4 in Genome Data Viewer
    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_000068.8Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA A430018G15 gene Neighboring gene predicted gene 13522 Neighboring gene ADP-ribosylation factor-like 5A Neighboring gene STARR-seq mESC enhancer starr_04483 Neighboring gene STARR-seq mESC enhancer starr_04484 Neighboring gene biogenesis of lysosomal organelles complex-1, subunit 2, pseudogene Neighboring gene STARR-seq mESC enhancer starr_04486 Neighboring gene predicted gene, 46740 Neighboring gene STARR-positive B cell enhancer ABC_E7814 Neighboring gene predicted gene, 46741 Neighboring gene STARR-positive B cell enhancer ABC_E10102 Neighboring gene signal transducing adaptor molecule (SH3 domain and ITAM motif) 2 Neighboring gene STARR-seq mESC enhancer starr_04490 Neighboring gene formin-like 2 Neighboring gene STARR-seq mESC enhancer starr_04498 Neighboring gene predicted gene, 52511

    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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Spontaneous (4) 
    • Targeted (1) 

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC31529

    Gene Ontology Provided by MGI

    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 
    involved_in calcium ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in calcium ion transport IBA
    Inferred from Biological aspect of Ancestor
    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 muscle cell development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of G1/S transition of mitotic cell cycle IEA
    Inferred from Electronic Annotation
    more info
     
    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 IEA
    Inferred from Electronic Annotation
    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 
    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 IEA
    Inferred from Electronic Annotation
    more info
     
    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 presynaptic cytosolic calcium ion concentration IEA
    Inferred from Electronic Annotation
    more info
     
    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 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
    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 
    located_in nuclear speck 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
     
    located_in presynapse IEA
    Inferred from Electronic Annotation
    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

    Preferred Names
    voltage-dependent L-type calcium channel subunit beta-4
    Names
    CAB4
    calcium channel voltage-dependent subunit beta 4

    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_001037099.3NP_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, Q3TYI5
      Related
      ENSMUSP00000077438.7, ENSMUST00000078324.7
      Conserved Domains (3) summary
      cd12043
      Location:90157
      SH3_CACNB4; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta4
      pfam12052
      Location:4990
      VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal
      cl27059
      Location:217397
      Guanylate_kin; Guanylate kinase
    2. NM_001285426.2NP_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:73140
      SH3_CACNB4; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta4
      pfam00625
      Location:200380
      Guanylate_kin; Guanylate kinase
      pfam12052
      Location:3273
      VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal
    3. NM_001285427.2NP_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:44111
      SH3_CACNB4; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta4
      pfam00625
      Location:171351
      Guanylate_kin; Guanylate kinase
      pfam12052
      Location:344
      VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal
    4. NM_001285428.1NP_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:32212
      Guanylate_kin; Guanylate kinase
      cl17190
      Location:42213
      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 ...
    5. NM_001355059.2NP_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:65245
      Guanylate_kin; Guanylate kinase
    6. NM_146123.4NP_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:57124
      SH3_CACNB4; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta4
      pfam00625
      Location:184364
      Guanylate_kin; Guanylate kinase
      pfam12052
      Location:1657
      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

    1. NC_000068.8 Reference GRCm39 C57BL/6J

      Range
      52318332..52566816 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      Conserved Domains (1) summary
      pfam00625
      Location:40220
      Guanylate_kin; Guanylate kinase
    2. XM_036157798.1XP_036013691.1  voltage-dependent L-type calcium channel subunit beta-4 isoform X3

      Conserved Domains (1) summary
      pfam00625
      Location:65245
      Guanylate_kin; Guanylate kinase
    3. XM_036157797.1XP_036013690.1  voltage-dependent L-type calcium channel subunit beta-4 isoform X2

      UniProtKB/TrEMBL
      Q3TYI5
      Conserved Domains (3) summary
      cd12043
      Location:44111
      SH3_CACNB4; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta4
      pfam00625
      Location:171351
      Guanylate_kin; Guanylate kinase
      pfam12052
      Location:344
      VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal
    4. XM_036157799.1XP_036013692.1  voltage-dependent L-type calcium channel subunit beta-4 isoform X4

      Conserved Domains (1) summary
      pfam00625
      Location:40220
      Guanylate_kin; Guanylate kinase
    5. XM_006497641.5XP_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:44111
      SH3_CACNB4; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta4
      pfam00625
      Location:171351
      Guanylate_kin; Guanylate kinase
      pfam12052
      Location:344
      VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal
    6. XM_030247010.2XP_030102870.1  voltage-dependent L-type calcium channel subunit beta-4 isoform X3

      Conserved Domains (1) summary
      pfam00625
      Location:65245
      Guanylate_kin; Guanylate kinase
    7. XM_006497642.5XP_006497705.1  voltage-dependent L-type calcium channel subunit beta-4 isoform X3

      Conserved Domains (1) summary
      pfam00625
      Location:65245
      Guanylate_kin; Guanylate kinase
    8. XM_036157801.1XP_036013694.1  voltage-dependent L-type calcium channel subunit beta-4 isoform X4

      Conserved Domains (1) summary
      pfam00625
      Location:40220
      Guanylate_kin; Guanylate kinase
    9. XM_036157802.1XP_036013695.1  voltage-dependent L-type calcium channel subunit beta-4 isoform X4

      Conserved Domains (1) summary
      pfam00625
      Location:40220
      Guanylate_kin; Guanylate kinase
    10. XM_017315163.2XP_017170652.1  voltage-dependent L-type calcium channel subunit beta-4 isoform X2

      UniProtKB/TrEMBL
      Q3TYI5
      Conserved Domains (3) summary
      cd12043
      Location:44111
      SH3_CACNB4; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta4
      pfam00625
      Location:171351
      Guanylate_kin; Guanylate kinase
      pfam12052
      Location:344
      VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal
    11. XM_036157796.1XP_036013689.1  voltage-dependent L-type calcium channel subunit beta-4 isoform X1

      UniProtKB/TrEMBL
      Q3TYI5
      Conserved Domains (3) summary
      cd12043
      Location:56123
      SH3_CACNB4; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta4
      pfam00625
      Location:183363
      Guanylate_kin; Guanylate kinase
      pfam12052
      Location:1556
      VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal
    12. XM_036157807.1XP_036013700.1  voltage-dependent L-type calcium channel subunit beta-4 isoform X6

      Conserved Domains (1) summary
      pfam00625
      Location:3147
      Guanylate_kin; Guanylate kinase
    13. XM_036157805.1XP_036013698.1  voltage-dependent L-type calcium channel subunit beta-4 isoform X5

      Conserved Domains (1) summary
      pfam00625
      Location:1180
      Guanylate_kin; Guanylate kinase
    14. XM_036157808.1XP_036013701.1  voltage-dependent L-type calcium channel subunit beta-4 isoform X6

      Conserved Domains (1) summary
      pfam00625
      Location:3147
      Guanylate_kin; Guanylate kinase