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

Gene ID: 785, updated on 14-Nov-2024

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; AllianceGenome:HGNC:1404
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
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Genomic context

See CACNB4 in Genome Data Viewer
Location:
2q23.3
Exon count:
22
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (151832771..152099167, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (152284205..152568400, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (152689285..152955681, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124906081 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:152410007-152411206 Neighboring gene nebulin Neighboring gene Sharpr-MPRA regulatory region 15124 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:152560612-152561164 Neighboring gene CRISPRi-validated cis-regulatory element chr2.5074 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12007 Neighboring gene NEB-ARL5A intergenic CAGE-defined B cell enhancer Neighboring gene Sharpr-MPRA regulatory region 4301 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16639 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12008 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12009 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16640 Neighboring gene ARF like GTPase 5A Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:152731461-152732134 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:152770214-152770417 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:152771361-152771862 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:152835433-152835977 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16641 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:152857391-152857891 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16642 Neighboring gene NANOG hESC enhancer GRCh37_chr2:152890844-152891419 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr2:152906636-152907257 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16643 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16644 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:152910243-152910744 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12010 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16645 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16646 Neighboring gene uncharacterized LOC105373689 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:153032215-153032738 Neighboring gene uncharacterized LOC105373688 Neighboring gene ribosomal protein L30 pseudogene 2 Neighboring gene signal transducing adaptor molecule 2

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, susceptibility to, 9
MedGen: C2750887 OMIM: 607682 GeneReviews: Not available
not available
Episodic ataxia type 5
MedGen: C1866039 OMIM: 613855 GeneReviews: Hereditary Ataxia Overview
not available

EBI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in Peyer's patch development IEA
Inferred from Electronic Annotation
more info
 
involved_in T cell receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in adult walking behavior IEA
Inferred from Electronic Annotation
more info
 
involved_in cAMP metabolic process IEA
Inferred from Electronic Annotation
more info
 
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
 
involved_in cellular response to leukemia inhibitory factor IEA
Inferred from Electronic Annotation
more info
 
involved_in chemical synaptic transmission IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in detection of light stimulus involved in visual perception IEA
Inferred from Electronic Annotation
more info
 
involved_in gamma-aminobutyric acid secretion IEA
Inferred from Electronic Annotation
more info
 
involved_in gamma-aminobutyric acid signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in muscle cell development IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of G1/S transition of mitotic cell cycle IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of cell population proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in neuromuscular junction development IEA
Inferred from Electronic Annotation
more info
 
involved_in neuronal action potential propagation IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of protein localization to nucleolus IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of presynaptic cytosolic calcium ion concentration IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of synaptic vesicle exocytosis IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of voltage-gated calcium channel activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in spleen development IEA
Inferred from Electronic Annotation
more info
 
involved_in synaptic transmission, glutamatergic IEA
Inferred from Electronic Annotation
more info
 
involved_in thymus development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in cytoplasmic side of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
 
located_in nuclear speck IEA
Inferred from Electronic Annotation
more info
 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in presynapse IEA
Inferred from Electronic Annotation
more info
 
located_in synapse IDA
Inferred from Direct Assay
more info
PubMed 
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

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)

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.

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
    A7BJ74, A8K1Y4, B4DG40, O00305, O60515, Q6B000, Q96L40
    UniProtKB/TrEMBL
    A8K5R3
    Related
    ENSP00000438949.1, ENST00000539935.7
    Conserved Domains (3) summary
    cd12043
    Location:91158
    SH3_CACNB4; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta4
    pfam00625
    Location:218398
    Guanylate_kin; Guanylate kinase
    pfam12052
    Location:5091
    VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal
  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/TrEMBL
    A8K5R3
    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
    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_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/TrEMBL
    A0A1B0GXG0
    Related
    ENSP00000443893.1, ENST00000534999.7
    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
  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/TrEMBL
    A0A1B0GTS4
    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/TrEMBL
    A0A1B0GTX2, 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
    UniProtKB/TrEMBL
    A0A1B0GVU5
    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
    UniProtKB/TrEMBL
    Q580I4
    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, A0A1B0GVU5
    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, A0A1B0GVU5
    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
    pfam00625
    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
    A0A1B0GTX2, 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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011511797.4XP_011510099.1  voltage-dependent L-type calcium channel subunit beta-4 isoform X3

    UniProtKB/TrEMBL
    A8K5R3
    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_047445790.1XP_047301746.1  voltage-dependent L-type calcium channel subunit beta-4 isoform X1

    UniProtKB/TrEMBL
    H0Y476
  3. XM_047445791.1XP_047301747.1  voltage-dependent L-type calcium channel subunit beta-4 isoform X4

    UniProtKB/TrEMBL
    A0A1B0GTP5
  4. XM_011511796.3XP_011510098.1  voltage-dependent L-type calcium channel subunit beta-4 isoform X2

    See identical proteins and their annotated locations for XP_011510098.1

    UniProtKB/TrEMBL
    A0A1B0GTX2
    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_047445792.1XP_047301748.1  voltage-dependent L-type calcium channel subunit beta-4 isoform X5

  6. XM_047445794.1XP_047301750.1  voltage-dependent L-type calcium channel subunit beta-4 isoform X7

  7. XM_047445798.1XP_047301754.1  voltage-dependent L-type calcium channel subunit beta-4 isoform X12

    UniProtKB/TrEMBL
    E7DBM8, F8WA06
    Related
    ENSP00000490510.1, ENST00000637491.1
  8. XM_047445797.1XP_047301753.1  voltage-dependent L-type calcium channel subunit beta-4 isoform X10

  9. XM_047445795.1XP_047301751.1  voltage-dependent L-type calcium channel subunit beta-4 isoform X8

    Related
    ENSP00000490127.1, ENST00000637309.1
  10. XM_017004888.3XP_016860377.1  voltage-dependent L-type calcium channel subunit beta-4 isoform X11

    UniProtKB/TrEMBL
    A0A1B0GWG5
  11. XM_047445796.1XP_047301752.1  voltage-dependent L-type calcium channel subunit beta-4 isoform X9

  12. XM_047445793.1XP_047301749.1  voltage-dependent L-type calcium channel subunit beta-4 isoform X6

    Related
    ENSP00000490430.1, ENST00000635904.1

RNA

  1. XR_007081584.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    152284205..152568400 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054343822.1XP_054199797.1  voltage-dependent L-type calcium channel subunit beta-4 isoform X13

    UniProtKB/Swiss-Prot
    A7BJ74, A8K1Y4, B4DG40, O00305, O60515, Q6B000, Q96L40
  2. XM_054343823.1XP_054199798.1  voltage-dependent L-type calcium channel subunit beta-4 isoform X1

    UniProtKB/TrEMBL
    H0Y476
  3. XM_054343825.1XP_054199800.1  voltage-dependent L-type calcium channel subunit beta-4 isoform X4

    UniProtKB/TrEMBL
    A0A1B0GTP5
  4. XM_054343824.1XP_054199799.1  voltage-dependent L-type calcium channel subunit beta-4 isoform X2

  5. XM_054343826.1XP_054199801.1  voltage-dependent L-type calcium channel subunit beta-4 isoform X5

  6. XM_054343828.1XP_054199803.1  voltage-dependent L-type calcium channel subunit beta-4 isoform X12

  7. XM_054343827.1XP_054199802.1  voltage-dependent L-type calcium channel subunit beta-4 isoform X11