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

    Gene ID: 785, updated on 3-Apr-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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CACNB4 in Genome Data Viewer
    Location:
    2q23.3
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (151832771..152099167, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (152284205..152568400, complement)
    105.20220307 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 ADP ribosylation factor 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
    Compare labs
    Episodic ataxia type 5
    MedGen: C1866039 OMIM: 613855 GeneReviews: Hereditary Ataxia Overview
    Compare labs

    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 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 IBA
    Inferred from Biological aspect of Ancestor
    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 IBA
    Inferred from Biological aspect of Ancestor
    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 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 

    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_2023_10

    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