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

Gene ID: 785, updated on 19-Jul-2014
Official Symbol
CACNB4provided by HGNC
Official Full Name
calcium channel, voltage-dependent, beta 4 subunitprovided by HGNC
Primary source
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]
See CACNB4 in Epigenomics, MapViewer
Location:
2q22-q23
Exon count:
17
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 2 NC_000002.12 (151832771..152099079, 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 ribosomal protein L30 pseudogene 2 Neighboring gene signal transducing adaptor molecule (SH3 domain and ITAM motif) 2 Neighboring gene formin-like 2 Neighboring gene nuclear distribution gene C homolog (A. nidulans) pseudogene 1

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)
    Oxytocin signaling pathway, conserved 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 ...
  • Transmission across Chemical Synapses, organism-specific biosystem (from REACTOME)
    Transmission across Chemical Synapses, organism-specific biosystemChemical synapses are specialized junctions that are used for communication between neurons, neurons and muscle or gland cells. The synapse involves a pre-synaptic neuron and a post-synaptic neuron,...
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 IEA
Inferred from Electronic Annotation
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 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
voltage-dependent L-type calcium channel subunit beta-4
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 

    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 proteins identical to 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
    Blast Score: 397
    SH3_CACNB4; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta4
    pfam00625
    Location:218398
    Blast Score: 465
    Guanylate_kin; Guanylate kinase
    pfam12052
    Location:5091
    Blast Score: 186
    VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal
    cl17190
    Location:228399
    Blast Score: 274
    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 proteins identical to 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
    Blast Score: 397
    SH3_CACNB4; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta4
    pfam00625
    Location:200380
    Blast Score: 464
    Guanylate_kin; Guanylate kinase
    pfam12052
    Location:3273
    Blast Score: 188
    VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal
    cl17190
    Location:210381
    Blast Score: 272
    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 proteins identical to 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
    Related
    ENSP00000353425, ENST00000360283
    Conserved Domains (4) summary
    cd12043
    Location:57124
    Blast Score: 397
    SH3_CACNB4; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta4
    pfam00625
    Location:184364
    Blast Score: 462
    Guanylate_kin; Guanylate kinase
    pfam12052
    Location:1657
    Blast Score: 190
    VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal
    cl17190
    Location:194365
    Blast Score: 272
    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 proteins identical to 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
    Blast Score: 397
    SH3_CACNB4; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta4
    pfam12052
    Location:5091
    Blast Score: 183
    VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal
    cl17190
    Location:228372
    Blast Score: 209
    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 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000002.12 

    Range
    151832771..152099079
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006712731.1XP_006712794.1  

    See proteins identical to XP_006712794.1

    UniProtKB/TrEMBL
    E7EN11
    Conserved Domains (4) summary
    cd12043
    Location:44111
    Blast Score: 397
    SH3_CACNB4; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta4
    pfam00625
    Location:171351
    Blast Score: 463
    Guanylate_kin; Guanylate kinase
    pfam12052
    Location:344
    Blast Score: 190
    VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal
    cl17190
    Location:181352
    Blast Score: 273
    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_006712732.1XP_006712795.1  

    Conserved Domains (2) summary
    pfam00625
    Location:1180
    Blast Score: 462
    Guanylate_kin; Guanylate kinase
    cl17190
    Location:10181
    Blast Score: 273
    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_005246838.1XP_005246895.1  

    See proteins identical to XP_005246895.1

    UniProtKB/TrEMBL
    E7DBM8
    Conserved Domains (2) summary
    cd12043
    Location:57124
    Blast Score: 391
    SH3_CACNB4; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta4
    pfam12052
    Location:1657
    Blast Score: 195
    VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal

Alternate HuRef

Genomic

  1. AC_000134.1 

    Range
    144575492..144841767
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018913.2 

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