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    CACNB3 calcium voltage-gated channel auxiliary subunit beta 3 [ Homo sapiens (human) ]

    Gene ID: 784, updated on 3-May-2024

    Summary

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    Official Symbol
    CACNB3provided by HGNC
    Official Full Name
    calcium voltage-gated channel auxiliary subunit beta 3provided by HGNC
    Primary source
    HGNC:HGNC:1403
    See related
    Ensembl:ENSG00000167535 MIM:601958; AllianceGenome:HGNC:1403
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CAB3; CACNLB3
    Summary
    This gene encodes a regulatory beta subunit of the voltage-dependent calcium channel. Beta subunits are composed of five domains, which contribute to the regulation of surface expression and gating of calcium channels and may also play a role in the regulation of transcription factors and calcium transport. [provided by RefSeq, Oct 2011]
    Expression
    Ubiquitous expression in endometrium (RPKM 10.3), ovary (RPKM 7.3) and 21 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CACNB3 in Genome Data Viewer
    Location:
    12q13.12
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (48814480..48828941)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (48776505..48790968)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (49208263..49222724)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene adenylate cyclase 6 Neighboring gene ADCY6 divergent transcript Neighboring gene Sharpr-MPRA regulatory region 15276 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:49194958-49195556 Neighboring gene chromosome 20 open reading frame 27 pseudogene Neighboring gene uncharacterized LOC101927241 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:49208339-49208840 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:49208841-49209340 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4413 Neighboring gene DEAD-box helicase 23 Neighboring gene uncharacterized LOC105369755 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6289 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6290 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6291 Neighboring gene Sharpr-MPRA regulatory region 11040 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6292 Neighboring gene Rho family GTPase 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Beta subunit heterogeneity in N-type Ca2+ channels. Scott VE, et al. J Biol Chem, 1996 Feb 9. PMID 8621722
    2. Cloning, chromosomal location and functional expression of the human voltage-dependent calcium-channel beta 3 subunit. Collin T, et al. Eur J Biochem, 1994 Feb 15. PMID 8119293
    3. Gene structure of the murine calcium channel beta3 subunit, cDNA and characterization of alternative splicing and transcription products. Murakami M, et al. Eur J Biochem, 1996 Feb 15. PMID 8617257
    4. Cloning and characterization of a Lambert-Eaton myasthenic syndrome antigen. Rosenfeld MR, et al. Ann Neurol, 1993 Jan. PMID 8494331
    5. The structures of the human calcium channel alpha 1 subunit (CACNL1A2) and beta subunit (CACNLB3) genes. Yamada Y, et al. Genomics, 1995 May 20. PMID 7557998

    See all (28) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. EMC chaperone-CaV structure reveals an ion channel assembly intermediate.
      Title: EMC chaperone-Ca(V) structure reveals an ion channel assembly intermediate.
    2. in the presence of Pax6(S), beta(3) is translocated from the cytoplasm to the nucleus;full-length Ca(v)beta may act directly as a transcription regulator independent of its role in regulating Ca(2+) channel activity
      Title: The beta subunit of voltage-gated Ca2+ channels interacts with and regulates the activity of a novel isoform of Pax6.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ58949

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium channel regulator activity ISS
    Inferred from Sequence or Structural Similarity
    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 ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    contributes_to voltage-gated calcium channel activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in T cell receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in calcium ion transmembrane transport via high voltage-gated calcium channel ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in calcium ion transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in calcium ion transport into cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in chemical synaptic transmission IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in neuromuscular junction development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of high voltage-gated calcium channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in protein localization to plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in regulation of membrane repolarization during action potential ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in regulation of voltage-gated calcium channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of L-type voltage-gated calcium channel complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in synapse 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 

    General protein information

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    Preferred Names
    voltage-dependent L-type calcium channel subunit beta-3
    Names
    calcium channel, voltage-dependent, beta 3 subunit

    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.

    Genomic

    1. NG_030048.1 RefSeqGene

      Range
      9065..19510
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000725.4 → NP_000716.2  voltage-dependent L-type calcium channel subunit beta-3 isoform 1

      See identical proteins and their annotated locations for NP_000716.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC117498, AK289709, AL534844
      Consensus CDS
      CCDS8769.1
      UniProtKB/Swiss-Prot
      A8K0Z4, B7Z4Q1, B7Z973, B7ZAK8, F5GZW7, F5H2P6, F8VSG3, P54284, Q13913
      UniProtKB/TrEMBL
      F8VNV8
      Related
      ENSP00000301050.2, ENST00000301050.7
      Conserved Domains (3) summary
      cd12042
      Location:58 → 125
      SH3_CACNB3; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta3
      pfam00625
      Location:176 → 356
      Guanylate_kin; Guanylate kinase
      pfam12052
      Location:16 → 58
      VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal

    2. NM_001206915.2 → NP_001193844.1  voltage-dependent L-type calcium channel subunit beta-3 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an exon in the 5' coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AC117498, CD013906
      Consensus CDS
      CCDS55823.1
      UniProtKB/TrEMBL
      F8VNV8
      Related
      ENSP00000448304.1, ENST00000547230.5
      Conserved Domains (3) summary
      cd11863
      Location:21 → 82
      SH3_CACNB; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta
      pfam00625
      Location:135 → 315
      Guanylate_kin; Guanylate kinase
      cl17190
      Location:145 → 316
      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_001206916.2 → NP_001193845.1  voltage-dependent L-type calcium channel subunit beta-3 isoform 3

      See identical proteins and their annotated locations for NP_001193845.1

      Status: REVIEWED

      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 distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AC117498, AK316323, DB277524
      Consensus CDS
      CCDS55822.1
      UniProtKB/TrEMBL
      F8VNV8
      Related
      ENSP00000444160.2, ENST00000536187.6
      Conserved Domains (4) summary
      cd12042
      Location:57 → 124
      SH3_CACNB3; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta3
      pfam00625
      Location:175 → 355
      Guanylate_kin; Guanylate kinase
      pfam12052
      Location:15 → 57
      VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal
      cl17190
      Location:185 → 356
      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 ...

    4. NM_001206917.2 → NP_001193846.1  voltage-dependent L-type calcium channel subunit beta-3 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) 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 (4) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AC117498, AK304537
      Consensus CDS
      CCDS55821.1
      UniProtKB/TrEMBL
      F8VNV8
      Related
      ENSP00000445495.1, ENST00000540990.5
      Conserved Domains (4) summary
      cd12042
      Location:45 → 112
      SH3_CACNB3; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta3
      pfam00625
      Location:163 → 343
      Guanylate_kin; Guanylate kinase
      pfam12052
      Location:3 → 45
      VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal
      cl17190
      Location:173 → 344
      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_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      48814480..48828941
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047429525.1 → XP_047285481.1  voltage-dependent L-type calcium channel subunit beta-3 isoform X1

      UniProtKB/Swiss-Prot
      A8K0Z4, B7Z4Q1, B7Z973, B7ZAK8, F5GZW7, F5H2P6, F8VSG3, P54284, Q13913

    2. XM_047429527.1 → XP_047285483.1  voltage-dependent L-type calcium channel subunit beta-3 isoform X2

    3. XM_047429526.1 → XP_047285482.1  voltage-dependent L-type calcium channel subunit beta-3 isoform X2

    4. XM_047429529.1 → XP_047285485.1  voltage-dependent L-type calcium channel subunit beta-3 isoform X3

    5. XM_011538728.3 → XP_011537030.1  voltage-dependent L-type calcium channel subunit beta-3 isoform X2

      See identical proteins and their annotated locations for XP_011537030.1

      Conserved Domains (1) summary
      cl27059
      Location:1 → 180
      Guanylate_kin; Guanylate kinase

    6. XM_047429528.1 → XP_047285484.1  voltage-dependent L-type calcium channel subunit beta-3 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      48776505..48790968
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054373189.1 → XP_054229164.1  voltage-dependent L-type calcium channel subunit beta-3 isoform X1

      UniProtKB/Swiss-Prot
      A8K0Z4, B7Z4Q1, B7Z973, B7ZAK8, F5GZW7, F5H2P6, F8VSG3, P54284, Q13913

    2. XM_054373191.1 → XP_054229166.1  voltage-dependent L-type calcium channel subunit beta-3 isoform X2

    3. XM_054373190.1 → XP_054229165.1  voltage-dependent L-type calcium channel subunit beta-3 isoform X2

    4. XM_054373194.1 → XP_054229169.1  voltage-dependent L-type calcium channel subunit beta-3 isoform X3

    5. XM_054373192.1 → XP_054229167.1  voltage-dependent L-type calcium channel subunit beta-3 isoform X2

    6. XM_054373193.1 → XP_054229168.1  voltage-dependent L-type calcium channel subunit beta-3 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P54284.1 GenPept UniProtKB/Swiss-Prot:P54284

    Gene LinkOut

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