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    CACNB4 calcium channel, voltage-dependent, beta 4 subunit [ Homo sapiens (human) ]

    Gene ID: 785, updated on 18-Jul-2015
    Official Symbol
    CACNB4provided by HGNC
    Official Full Name
    calcium channel, voltage-dependent, beta 4 subunitprovided by HGNC
    Primary source
    HGNC:HGNC:1404
    See related
    Ensembl:ENSG00000182389; HPRD:09057; MIM:601949; Vega:OTTHUMG00000155091
    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) and juvenile myoclonic epilepsy (JME). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
    Orthologs
    See CACNB4 in Epigenomics, MapViewer
    Location:
    2q22-q23
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 2 NC_000002.12 (151832771..152099988, 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 ADP-ribosylation factor-like 5A Neighboring gene signal transducing adaptor molecule (SH3 domain and ITAM motif) 2 Neighboring gene ribosomal protein L30 pseudogene 2 Neighboring gene uncharacterized LOC105373689 Neighboring gene uncharacterized LOC105373688

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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
    • Adrenergic signaling in cardiomyocytes, organism-specific biosystem (from KEGG)
      Adrenergic signaling in cardiomyocytes, organism-specific biosystemCardiac myocytes express at least six subtypes of adrenergic receptor (AR) which include three subtypes of beta-AR (beta-1, beta-2, beta-3) and three subtypes of the alpha-1-AR (alpha-1A, alpha-1B, a...
    • Adrenergic signaling in cardiomyocytes, conserved biosystem (from KEGG)
      Adrenergic signaling in cardiomyocytes, conserved biosystemCardiac myocytes express at least six subtypes of adrenergic receptor (AR) which include three subtypes of beta-AR (beta-1, beta-2, beta-3) and three subtypes of the alpha-1-AR (alpha-1A, alpha-1B, a...
    • Arrhythmogenic right ventricular cardiomyopathy, organism-specific biosystem (from WikiPathways)
      Arrhythmogenic right ventricular cardiomyopathy, organism-specific biosystemAdapted from KEGG: http://www.genome.jp/kegg/pathway/hsa/hsa05412.html
    • Arrhythmogenic right ventricular cardiomyopathy (ARVC), organism-specific biosystem (from KEGG)
      Arrhythmogenic right ventricular cardiomyopathy (ARVC), organism-specific biosystemArrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are prog...
    • Arrhythmogenic right ventricular cardiomyopathy (ARVC), conserved biosystem (from KEGG)
      Arrhythmogenic right ventricular cardiomyopathy (ARVC), conserved biosystemArrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are prog...
    • Axon guidance, organism-specific biosystem (from REACTOME)
      Axon guidance, organism-specific biosystemAxon guidance / axon pathfinding is the process by which neurons send out axons to reach the correct targets. Growing axons have a highly motile structure at the growing tip called the growth cone, w...
    • Cardiac muscle contraction, organism-specific biosystem (from KEGG)
      Cardiac muscle contraction, organism-specific biosystemContraction of the heart is a complex process initiated by the electrical excitation of cardiac myocytes (excitation-contraction coupling, ECC). In cardiac myocytes, Ca2+ influx induced by activation...
    • Cardiac muscle contraction, conserved biosystem (from KEGG)
      Cardiac muscle contraction, conserved biosystemContraction of the heart is a complex process initiated by the electrical excitation of cardiac myocytes (excitation-contraction coupling, ECC). In cardiac myocytes, Ca2+ influx induced by activation...
    • Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels, organism-specific biosystem (from REACTOME)
      Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels, organism-specific biosystemThe action potential travels down the axon and reaches the pre-synaptic terminal depolarizing the membrane in the pre-synaptic terminal. The depolarization causes the voltage-gated Ca2+ channels to ...
    • Developmental Biology, organism-specific biosystem (from REACTOME)
      Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
    • Dilated cardiomyopathy, organism-specific biosystem (from KEGG)
      Dilated cardiomyopathy, organism-specific biosystemDilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac d...
    • Dilated cardiomyopathy, conserved biosystem (from KEGG)
      Dilated cardiomyopathy, conserved biosystemDilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac d...
    • Hypertrophic cardiomyopathy (HCM), organism-specific biosystem (from KEGG)
      Hypertrophic cardiomyopathy (HCM), organism-specific biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
    • Hypertrophic cardiomyopathy (HCM), conserved biosystem (from KEGG)
      Hypertrophic cardiomyopathy (HCM), conserved biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
    • MAPK signaling pathway, organism-specific biosystem (from KEGG)
      MAPK signaling pathway, organism-specific biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...
    • MAPK signaling pathway, conserved biosystem (from KEGG)
      MAPK signaling pathway, conserved biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...
    • NCAM signaling for neurite out-growth, organism-specific biosystem (from REACTOME)
      NCAM signaling for neurite out-growth, organism-specific biosystemThe neural cell adhesion molecule, NCAM, is a member of the immunoglobulin (Ig) superfamily and is involved in a variety of cellular processes of importance for the formation and maintenance of the n...
    • NCAM1 interactions, organism-specific biosystem (from REACTOME)
      NCAM1 interactions, organism-specific biosystemThe neural cell adhesion molecule, NCAM1 is generally considered as a cell adhesion mediator, but it is also considered to be a signal transducing receptor molecule. NCAM1 is involved in multiple cis...
    • Neuronal System, organism-specific biosystem (from REACTOME)
      Neuronal System, organism-specific biosystemThe human brain contains at least 100 billion neurons, each with the ability to influence many other cells. Clearly, highly sophisticated and efficient mechanisms are needed to enable communication a...
    • Oxytocin signaling pathway, organism-specific biosystem (from KEGG)
      Oxytocin signaling pathway, organism-specific biosystemOxytocin (OT) is a nonapeptide synthesized by the magno-cellular neurons located in the supraoptic (SON) and paraventricular (PVN) nuclei of the hypothalamus. It exerts a wide variety of central and ...
    • Oxytocin signaling pathway, conserved biosystem (from KEGG)
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    • Transmission across Chemical Synapses, organism-specific biosystem (from REACTOME)
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    Products Interactant Other Gene Complex Source Pubs Description

    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 
    protein kinase binding IEA
    Inferred from Electronic Annotation
    more info
     
    contributes_to voltage-gated calcium channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    Peyer's patch development IEA
    Inferred from Electronic Annotation
    more info
     
    T cell receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    adult walking behavior IEA
    Inferred from Electronic Annotation
    more info
     
    axon guidance TAS
    Traceable Author Statement
    more info
     
    cAMP metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    calcium ion transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    calcium ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    cellular calcium ion homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    detection of light stimulus involved in visual perception IEA
    Inferred from Electronic Annotation
    more info
     
    gamma-aminobutyric acid secretion IEA
    Inferred from Electronic Annotation
    more info
     
    gamma-aminobutyric acid signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    membrane depolarization TAS
    Traceable Author Statement
    more info
     
    muscle fiber development IEA
    Inferred from Electronic Annotation
    more info
     
    neuromuscular junction development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    neuronal action potential propagation IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of voltage-gated calcium channel activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    spleen development IEA
    Inferred from Electronic Annotation
    more info
     
    synaptic transmission IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    synaptic transmission TAS
    Traceable Author Statement
    more info
     
    synaptic transmission, glutamatergic IEA
    Inferred from Electronic Annotation
    more info
     
    thymus development IEA
    Inferred from Electronic Annotation
    more info
     
    transport TAS
    Traceable Author Statement
    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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    synapse IDA
    Inferred from Direct Assay
    more info
    PubMed 
    voltage-gated calcium channel complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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

    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
      5001..271309
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000726.3NP_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).
      Source sequence(s)
      AC097448, BC075049, T23939, U95020
      Consensus CDS
      CCDS46426.1
      UniProtKB/Swiss-Prot
      O00305
      Related
      ENSP00000438949, OTTHUMP00000207249, ENST00000539935, OTTHUMT00000338385
      Conserved Domains (4) 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
      cl17190
      Location:228399
      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. NM_001005746.2NP_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) represents use of an alternate promoter and 5' UTR and differs in the 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)
      AC097448, AK316045, BX279713, T23939
      Consensus CDS
      CCDS46427.1
      UniProtKB/Swiss-Prot
      O00305
      Conserved Domains (4) 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
      cl17190
      Location:210381
      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_001005747.2NP_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.
      Source sequence(s)
      AC097448, AK290049, DA782833, T23939
      Consensus CDS
      CCDS46428.1
      UniProtKB/Swiss-Prot
      O00305
      Conserved Domains (4) 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
      cl17190
      Location:194365
      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_001145798.1NP_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.
      Source sequence(s)
      AB302276, AC097448, T23939, U95020
      Consensus CDS
      CCDS54409.1
      UniProtKB/Swiss-Prot
      O00305
      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:228372
      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: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p2 Primary Assembly

      Range
      151832771..152099988
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011511797.1XP_011510099.1  

      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_006712731.1XP_006712794.1  

      See identical proteins and their annotated locations for XP_006712794.1

      UniProtKB/TrEMBL
      E7EN11
      Conserved Domains (4) 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
      cl17190
      Location:181352
      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. XM_011511795.1XP_011510097.1  

      See identical proteins and their annotated locations for XP_011510097.1

      UniProtKB/TrEMBL
      E7EN11
      Conserved Domains (4) 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
      cl17190
      Location:181352
      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. XM_011511796.1XP_011510098.1  

      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_011511800.1XP_011510102.1  

      Conserved Domains (2) summary
      pfam00625
      Location:1180
      Guanylate_kin; Guanylate kinase
      cl17190
      Location:10181
      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 ...
    6. XM_011511799.1XP_011510101.1  

      Conserved Domains (2) 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
    7. XM_005246838.2XP_005246895.1  

      See identical proteins and their annotated locations for XP_005246895.1

      UniProtKB/TrEMBL
      E7DBM8
      Conserved Domains (2) 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
    8. XM_011511798.1XP_011510100.1  

      Conserved Domains (2) 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

    RNA

    1. XR_923022.1 RNA Sequence

    2. XR_923023.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018913.2 Alternate CHM1_1.1

      Range
      152694863..152961451
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)