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

Gene ID: 784, updated on 3-Apr-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
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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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