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CACNB4 calcium voltage-gated channel auxiliary subunit beta 4 [ Homo sapiens (human) ]

Gene ID: 785, updated on 1-Aug-2020

Summary

Official Symbol
CACNB4provided by HGNC
Official Full Name
calcium voltage-gated channel auxiliary subunit beta 4provided by HGNC
Primary source
HGNC:HGNC:1404
See related
Ensembl:ENSG00000182389 MIM:601949
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
EA5; EJM; CAB4; EIG9; EJM4; EJM6; CACNLB4
Summary
This gene encodes a member of the beta subunit family of voltage-dependent calcium channel complex proteins. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. The protein encoded by this locus plays an important role in calcium channel function by modulating G protein inhibition, increasing peak calcium current, controlling the alpha-1 subunit membrane targeting and shifting the voltage dependence of activation and inactivation. Certain mutations in this gene have been associated with idiopathic generalized epilepsy (IGE), juvenile myoclonic epilepsy (JME), and episodic ataxia, type 5. [provided by RefSeq, Aug 2016]
Expression
Biased expression in brain (RPKM 5.9), skin (RPKM 2.0) and 8 other tissues See more
Orthologs

Genomic context

See CACNB4 in Genome Data Viewer
Location:
2q23.3
Exon count:
22
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (151832771..152099167, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (152689285..152955593, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101929356 Neighboring gene Sharpr-MPRA regulatory region 4301 Neighboring gene ADP ribosylation factor like GTPase 5A Neighboring gene signal transducing adaptor molecule 2 Neighboring gene ribosomal protein L30 pseudogene 2 Neighboring gene uncharacterized LOC105373689 Neighboring gene uncharacterized LOC105373688

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Epilepsy, idiopathic generalized 9
MedGen: C2750887 OMIM: 607682 GeneReviews: Not available
Compare labs
Episodic ataxia, type 5
MedGen: C1866039 OMIM: 613855 GeneReviews: Hereditary Ataxia Overview
Compare labs

NHGRI GWAS Catalog

Description
A genome-wide association study of chemotherapy-induced alopecia in breast cancer patients.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to high voltage-gated calcium channel activity IDA
Inferred from Direct Assay
more info
PubMed 
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
calcium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
cardiac conduction TAS
Traceable Author Statement
more info
 
chemical synaptic transmission IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
membrane depolarization TAS
Traceable Author Statement
more info
 
neuromuscular junction development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of voltage-gated calcium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of voltage-gated calcium channel activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cytoplasmic side of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
synapse IEA
Inferred from Electronic Annotation
more info
 
voltage-gated calcium channel complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
voltage-gated calcium channel complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
voltage-dependent L-type calcium channel subunit beta-4
Names
calcium channel voltage-dependent subunit beta 4
dihydropyridine-sensitive L-type, calcium channel beta-4 subunit

NCBI Reference Sequences (RefSeq)

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_012641.1 RefSeqGene

    Range
    5036..271309
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000726.5NP_000717.2  voltage-dependent L-type calcium channel subunit beta-4 isoform b

    See identical proteins and their annotated locations for NP_000717.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) encodes the longest isoform (b). This isoform has a b-type N-terminus.
    Source sequence(s)
    AC079790, AC097448, BC075049, T23939
    Consensus CDS
    CCDS46426.1
    UniProtKB/Swiss-Prot
    O00305
    Related
    ENSP00000438949.1, ENST00000539935.6
    Conserved Domains (3) summary
    cd12043
    Location:91158
    SH3_CACNB4; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta4
    pfam12052
    Location:5091
    VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal
    cl27059
    Location:218398
    Guanylate_kin; Guanylate kinase
  2. NM_001005746.4NP_001005746.1  voltage-dependent L-type calcium channel subunit beta-4 isoform c

    See identical proteins and their annotated locations for NP_001005746.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and 5' coding region, compared to variant 2. The resulting isoform (c) has a shorter and distinct N-terminus, compared to isoform b.
    Source sequence(s)
    AC079790, AC097448, AK316045, T23939
    Consensus CDS
    CCDS46427.1
    UniProtKB/Swiss-Prot
    O00305
    Related
    ENSP00000489677.1, ENST00000638005.1
    Conserved Domains (3) summary
    cd12043
    Location:73140
    SH3_CACNB4; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta4
    pfam12052
    Location:3273
    VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal
    cl27059
    Location:200380
    Guanylate_kin; Guanylate kinase
  3. NM_001005747.4NP_001005747.1  voltage-dependent L-type calcium channel subunit beta-4 isoform a

    See identical proteins and their annotated locations for NP_001005747.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents use of an alternate promoter and 5' UTR and differs in the 5' coding region, compared to variant 2. The resulting isoform (a) has a shorter and distinct N-terminus, compared to isoform b. This isoform has an a-type N-terminus.
    Source sequence(s)
    AC068547, AC097448, AK290049, T23939
    Consensus CDS
    CCDS46428.1
    UniProtKB/Swiss-Prot
    O00305
    Related
    ENSP00000443893.1, ENST00000534999.6
    Conserved Domains (3) summary
    cd12043
    Location:57124
    SH3_CACNB4; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta4
    pfam12052
    Location:1657
    VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal
    cl27059
    Location:184364
    Guanylate_kin; Guanylate kinase
  4. NM_001145798.2NP_001139270.1  voltage-dependent L-type calcium channel subunit beta-4 isoform d

    See identical proteins and their annotated locations for NP_001139270.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an alternate in-frame exon in the 3' coding region, compared to variant 2. The resulting isoform (d) lacks an internal segment near the C-terminus, compared to isoform b. This isoform has a b-type N-terminus.
    Source sequence(s)
    AB302276, AC079790, AC097448, T23939
    Consensus CDS
    CCDS54409.1
    UniProtKB/Swiss-Prot
    O00305
    Related
    ENSP00000201943.5, ENST00000201943.10
    Conserved Domains (3) summary
    cd12043
    Location:91158
    SH3_CACNB4; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta4
    pfam12052
    Location:5091
    VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal
    cl27059
    Location:218371
    Guanylate_kin; Guanylate kinase
  5. NM_001320722.3NP_001307651.1  voltage-dependent L-type calcium channel subunit beta-4 isoform e

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) represents use of an alternate promoter and 5' UTR and differs in the 5' coding region, compared to variant 2. The resulting isoform (e) has a shorter and distinct N-terminus, compared to isoform b.
    Source sequence(s)
    AC068547, AC097448, AK316045, DA082068, DA782833
    Consensus CDS
    CCDS82522.1
    UniProtKB/Swiss-Prot
    O00305
    UniProtKB/TrEMBL
    H0Y476
    Related
    ENSP00000490250.1, ENST00000637217.1
    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. NM_001330113.2NP_001317042.1  voltage-dependent L-type calcium channel subunit beta-4 isoform f

    Status: REVIEWED

    Source sequence(s)
    AC068547, AC079790, AC097448
    Related
    ENSP00000489788.1, ENST00000636785.1
  7. NM_001330114.2NP_001317043.1  voltage-dependent L-type calcium channel subunit beta-4 isoform g

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) represents use of an alternate promoter compared to variant 2.
    Source sequence(s)
    AC068547, AC097448
    Conserved Domains (1) summary
    pfam00625
    Location:1180
    Guanylate_kin; Guanylate kinase
  8. NM_001330115.2NP_001317044.1  voltage-dependent L-type calcium channel subunit beta-4 isoform h

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) represents use of an alternate promoter compared to variant 2. The encoded isoform (h) has an a-type N-terminus.
    Source sequence(s)
    AC068547, AC097448
    Consensus CDS
    CCDS82523.1
    UniProtKB/TrEMBL
    A0A1B0GTK1
    Related
    ENSP00000489732.1, ENST00000637779.1
  9. NM_001330116.2NP_001317045.1  voltage-dependent L-type calcium channel subunit beta-4 isoform i

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9) represents use of an alternate promoter compared to variant 2.
    Source sequence(s)
    AC068547, AC097448
    Consensus CDS
    CCDS82521.1
    UniProtKB/TrEMBL
    A0A1B0GTX8
    Related
    ENSP00000489883.1, ENST00000638040.1
  10. NM_001330117.2NP_001317046.1  voltage-dependent L-type calcium channel subunit beta-4 isoform j

    Status: REVIEWED

    Description
    Transcript Variant: This variant (10) represents use of an alternate promoter compared to variant 2.
    Source sequence(s)
    AC068547, AC097448
    Consensus CDS
    CCDS82520.1
    UniProtKB/TrEMBL
    A0A1B0GTP5
    Related
    ENSP00000489787.1, ENST00000637284.1
    Conserved Domains (1) summary
    cl27059
    Location:32212
    Guanylate_kin; Guanylate kinase
  11. NM_001330118.1NP_001317047.1  voltage-dependent L-type calcium channel subunit beta-4 isoform e

    Status: REVIEWED

    Description
    Transcript Variant: This variant (11) represents use of an alternate promoter compared to variant 2.
    Source sequence(s)
    AC068547, AC097448
    Consensus CDS
    CCDS82522.1
    UniProtKB/TrEMBL
    H0Y476
    Related
    ENSP00000390161.2, ENST00000439467.6
    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

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20200522

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    151832771..152099167 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011511797.3XP_011510099.1  voltage-dependent L-type calcium channel subunit beta-4 isoform X2

    Conserved Domains (3) summary
    cd12043
    Location:91158
    SH3_CACNB4; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta4
    pfam12052
    Location:5091
    VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal
    cl17190
    Location:230336
    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. XM_017004885.1XP_016860374.1  voltage-dependent L-type calcium channel subunit beta-4 isoform X4

    Conserved Domains (1) summary
    pfam00625
    Location:1180
    Guanylate_kin; Guanylate kinase
  3. XM_024453128.1XP_024308896.1  voltage-dependent L-type calcium channel subunit beta-4 isoform X3

    Conserved Domains (1) summary
    cl27059
    Location:32212
    Guanylate_kin; Guanylate kinase
  4. XM_011511796.2XP_011510098.1  voltage-dependent L-type calcium channel subunit beta-4 isoform X1

    See identical proteins and their annotated locations for XP_011510098.1

    Conserved Domains (4) summary
    cd12043
    Location:43110
    SH3_CACNB4; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta4
    pfam00625
    Location:170350
    Guanylate_kin; Guanylate kinase
    pfam12052
    Location:243
    VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal
    cl17190
    Location:180351
    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. XM_017004888.2XP_016860377.1  voltage-dependent L-type calcium channel subunit beta-4 isoform X5

RNA

  1. XR_001738935.1 RNA Sequence

  2. XR_001738939.1 RNA Sequence

    Related
    ENST00000635738.1
  3. XR_001738937.2 RNA Sequence

    Related
    ENST00000637547.1
  4. XR_001738940.2 RNA Sequence

  5. XR_923022.3 RNA Sequence

    Related
    ENST00000636762.1
  6. XR_002959337.1 RNA Sequence

  7. XR_002959338.1 RNA Sequence

    Related
    ENST00000637312.1
  8. XR_001738938.2 RNA Sequence

  9. XR_001738928.1 RNA Sequence

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