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

    Gene ID: 12296, updated on 27-Nov-2024

    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 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; brain; eye; genitourinary system; and heart. 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, Nov 2024]
    Expression
    Broad expression in heart adult (RPKM 6.4), cerebellum adult (RPKM 5.3) and 18 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See Cacnb2 in Genome Data Viewer
    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_000068.8Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_03729 Neighboring gene STARR-seq mESC enhancer starr_03730 Neighboring gene solute carrier family 39 (zinc transporter), member 12 Neighboring gene STARR-seq mESC enhancer starr_03732 Neighboring gene predicted gene 13266 Neighboring gene STARR-positive B cell enhancer ABC_E11121 Neighboring gene predicted gene, 32741 Neighboring gene predicted gene 13268 Neighboring gene STARR-seq mESC enhancer starr_03733 Neighboring gene OTK27 Neighboring gene lactate dehydrogenase A pseudogene Neighboring gene predicted gene 13269 Neighboring gene STARR-seq mESC enhancer starr_03734 Neighboring gene TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor pseudogene Neighboring gene STARR-seq mESC enhancer starr_03735 Neighboring gene STARR-positive B cell enhancer ABC_E7794 Neighboring gene STARR-seq mESC enhancer starr_03736 Neighboring gene NOL1/NOP2/Sun domain family member 6 Neighboring gene STARR-seq mESC enhancer starr_03737 Neighboring gene ADP-ribosylation factor-like 5B

    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 (2) 
    • Targeted (7)  1 citation

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC129334, MGC129335

    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 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 AV node cell action potential ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    contributes_to voltage-gated calcium channel activity involved in cardiac muscle cell action potential ISO
    Inferred from Sequence Orthology
    more info
     
    contributes_to voltage-gated calcium channel activity involved in cardiac muscle cell action potential ISS
    Inferred from Sequence or Structural Similarity
    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 IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in calcium ion import ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in calcium ion transmembrane transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in calcium ion transport IBA
    Inferred from Biological aspect of Ancestor
    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 AV node cell action potential ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in membrane depolarization during atrial cardiac muscle cell action potential ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in membrane depolarization during atrial cardiac muscle cell action potential ISS
    Inferred from Sequence or Structural Similarity
    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 transmembrane transport via high voltage-gated calcium channel ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of calcium ion transport ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of high voltage-gated calcium channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of muscle contraction NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in protein localization to plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in protein localization to plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of heart rate by cardiac conduction ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of heart rate by cardiac conduction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of presynaptic cytosolic calcium ion concentration IEA
    Inferred from Electronic Annotation
    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
     
    part_of L-type voltage-gated calcium channel complex ISS
    Inferred from Sequence or Structural Similarity
    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 TAS
    Traceable Author Statement
    more info
     
    located_in presynapse IEA
    Inferred from Electronic Annotation
    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

    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)

    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_001252533.2NP_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:58126
      SH3_CACNB2; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta2
      pfam00625
      Location:226407
      Guanylate_kin; Guanylate kinase
      pfam12052
      Location:1859
      VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal
      cl17190
      Location:236408
      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 ...
    2. NM_001309519.2NP_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:64132
      SH3_CACNB2; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta2
      pfam00625
      Location:232413
      Guanylate_kin; Guanylate kinase
      pfam12052
      Location:2465
      VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal
      cl17190
      Location:242414
      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 ...
    3. NM_001406090.1NP_001393019.1  voltage-dependent L-type calcium channel subunit beta-2 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AL928632, AL935312
    4. NM_001406091.1NP_001393020.1  voltage-dependent L-type calcium channel subunit beta-2 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AL928632
    5. NM_001406092.1NP_001393021.1  voltage-dependent L-type calcium channel subunit beta-2 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AL928632, AL929165
      Related
      ENSMUST00000193262.6
    6. NM_001406093.1NP_001393022.1  voltage-dependent L-type calcium channel subunit beta-2 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AL928632, AL929165
      UniProtKB/TrEMBL
      A0A0A7NQN9
    7. NM_001406094.1NP_001393023.1  voltage-dependent L-type calcium channel subunit beta-2 isoform 8

      Status: VALIDATED

      Source sequence(s)
      AL928632
    8. NM_001406095.1NP_001393024.1  voltage-dependent L-type calcium channel subunit beta-2 isoform 9

      Status: VALIDATED

      Source sequence(s)
      AL928632, AL929165
    9. NM_001406096.1NP_001393025.1  voltage-dependent L-type calcium channel subunit beta-2 isoform 10

      Status: VALIDATED

      Source sequence(s)
      AL928632, AL929165
    10. NM_001406097.1NP_001393026.1  voltage-dependent L-type calcium channel subunit beta-2 isoform 10

      Status: VALIDATED

      Source sequence(s)
      AL928632
    11. NM_023116.5NP_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:108176
      SH3_CACNB2; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta2
      pfam00625
      Location:276457
      Guanylate_kin; Guanylate kinase
      pfam12052
      Location:68109
      VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal
      cl17190
      Location:286458
      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

    1. NC_000068.8 Reference GRCm39 C57BL/6J

      Range
      14608672..14993622
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006497313.4XP_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:108176
      SH3_CACNB2; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta2
      pfam00625
      Location:276456
      Guanylate_kin; Guanylate kinase
      pfam12052
      Location:68109
      VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal
    2. XM_006497317.4XP_006497380.1  voltage-dependent L-type calcium channel subunit beta-2 isoform X4

      UniProtKB/TrEMBL
      A0A9E9EN88
      Conserved Domains (3) summary
      cd12040
      Location:108176
      SH3_CACNB2; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta2
      pfam00625
      Location:238419
      Guanylate_kin; Guanylate kinase
      pfam12052
      Location:68109
      VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal
    3. XM_006497318.4XP_006497381.1  voltage-dependent L-type calcium channel subunit beta-2 isoform X6

      UniProtKB/TrEMBL
      A0A9E9EN88
      Conserved Domains (3) summary
      cd12040
      Location:108176
      SH3_CACNB2; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta2
      pfam00625
      Location:238418
      Guanylate_kin; Guanylate kinase
      pfam12052
      Location:68109
      VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal
    4. XM_006497315.4XP_006497378.1  voltage-dependent L-type calcium channel subunit beta-2 isoform X3

      UniProtKB/TrEMBL
      A0A9E9EN88
      Conserved Domains (3) summary
      cd12040
      Location:84152
      SH3_CACNB2; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta2
      pfam00625
      Location:252432
      Guanylate_kin; Guanylate kinase
      pfam12052
      Location:4485
      VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal
    5. XM_036157789.1XP_036013682.1  voltage-dependent L-type calcium channel subunit beta-2 isoform X9

      UniProtKB/TrEMBL
      A0A9E9EN88
      Conserved Domains (3) summary
      cd12040
      Location:84152
      SH3_CACNB2; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta2
      pfam00625
      Location:214395
      Guanylate_kin; Guanylate kinase
      pfam12052
      Location:4485
      VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal
    6. XM_006497321.4XP_006497384.1  voltage-dependent L-type calcium channel subunit beta-2 isoform X10

      UniProtKB/TrEMBL
      A0A9E9EN88
      Conserved Domains (3) summary
      cd12040
      Location:84152
      SH3_CACNB2; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta2
      pfam00625
      Location:214394
      Guanylate_kin; Guanylate kinase
      pfam12052
      Location:4485
      VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal
    7. XM_036157788.1XP_036013681.1  voltage-dependent L-type calcium channel subunit beta-2 isoform X5

      UniProtKB/TrEMBL
      A0A9E9EN88
      Conserved Domains (3) summary
      cd12040
      Location:69137
      SH3_CACNB2; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta2
      pfam00625
      Location:237418
      Guanylate_kin; Guanylate kinase
      pfam12052
      Location:2970
      VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal