Free for academic non-profit institutions. Other users need a Commercial license

Aliases for CACNB4 Gene

Aliases for CACNB4 Gene

  • Calcium Voltage-Gated Channel Auxiliary Subunit Beta 4 2 3
  • Calcium Channel, Voltage-Dependent, Beta 4 Subunit 2 3 5
  • Calcium Channel Voltage-Dependent Subunit Beta 4 3 4
  • CACNLB4 3 4
  • CAB4 3 4
  • Dihydropyridine-Sensitive L-Type, Calcium Channel Beta-4 Subunit 3
  • EIG9 3
  • EJM4 3
  • EJM6 3
  • EA5 3
  • EJM 3

External Ids for CACNB4 Gene

Previous GeneCards Identifiers for CACNB4 Gene

  • GC02M150446
  • GC02M151224
  • GC02M152659
  • GC02M152897
  • GC02M152520
  • GC02M152402
  • GC02M144575
  • GC02M152689

Summaries for CACNB4 Gene

Entrez Gene Summary for CACNB4 Gene

  • 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]

GeneCards Summary for CACNB4 Gene

CACNB4 (Calcium Voltage-Gated Channel Auxiliary Subunit Beta 4) is a Protein Coding gene. Diseases associated with CACNB4 include episodic ataxia, type 5 and epilepsy, idiopathic generalized 9. Among its related pathways are Transmission across Chemical Synapses and Cardiac conduction. GO annotations related to this gene include protein kinase binding and high voltage-gated calcium channel activity. An important paralog of this gene is CACNB3.

UniProtKB/Swiss-Prot for CACNB4 Gene

  • The beta subunit of voltage-dependent calcium channels contributes to the function of the calcium channel by increasing peak calcium current, shifting the voltage dependencies of activation and inactivation, modulating G protein inhibition and controlling the alpha-1 subunit membrane targeting.

Gene Wiki entry for CACNB4 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CACNB4 Gene

Genomics for CACNB4 Gene

Regulatory Elements for CACNB4 Gene

Promoters for CACNB4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CACNB4 on UCSC Golden Path with GeneCards custom track

Genomic Location for CACNB4 Gene

Chromosome:
2
Start:
151,832,771 bp from pter
End:
152,099,988 bp from pter
Size:
267,218 bases
Orientation:
Minus strand

Genomic View for CACNB4 Gene

Genes around CACNB4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CACNB4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CACNB4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CACNB4 Gene

Proteins for CACNB4 Gene

  • Protein details for CACNB4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00305-CACB4_HUMAN
    Recommended name:
    Voltage-dependent L-type calcium channel subunit beta-4
    Protein Accession:
    O00305
    Secondary Accessions:
    • A7BJ74
    • A8K1Y4
    • B4DG40
    • O60515
    • Q6B000
    • Q96L40

    Protein attributes for CACNB4 Gene

    Size:
    520 amino acids
    Molecular mass:
    58169 Da
    Quaternary structure:
    • The L-type calcium channel is composed of four subunits: alpha-1, alpha-2, beta and gamma. Interacts with FASLG. Interacts with CBARP.

    Three dimensional structures from OCA and Proteopedia for CACNB4 Gene

    Alternative splice isoforms for CACNB4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CACNB4 Gene

Proteomics data for CACNB4 Gene at MOPED

Post-translational modifications for CACNB4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for CACNB4 Gene

Domains & Families for CACNB4 Gene

Graphical View of Domain Structure for InterPro Entry

O00305

UniProtKB/Swiss-Prot:

CACB4_HUMAN :
  • Contains 1 SH3 domain.
  • Belongs to the calcium channel beta subunit family.
Domain:
  • Contains 1 SH3 domain.
Family:
  • Belongs to the calcium channel beta subunit family.
genes like me logo Genes that share domains with CACNB4: view

Function for CACNB4 Gene

Molecular function for CACNB4 Gene

GENATLAS Biochemistry:
calcium voltage-gated channel (VDCC) beta 4 regulatory subunit,55kDa,expressed in brain,cerebellum,kidney,testis,retina,lymphoblasts and circulating lymphocytes,ortholog of the mouse epilepsy gene lethargic
UniProtKB/Swiss-Prot Function:
The beta subunit of voltage-dependent calcium channels contributes to the function of the calcium channel by increasing peak calcium current, shifting the voltage dependencies of activation and inactivation, modulating G protein inhibition and controlling the alpha-1 subunit membrane targeting.

Gene Ontology (GO) - Molecular Function for CACNB4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008331 contributes_to high voltage-gated calcium channel activity IDA 11880487
genes like me logo Genes that share ontologies with CACNB4: view
genes like me logo Genes that share phenotypes with CACNB4: view

Human Phenotype Ontology for CACNB4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CACNB4 Gene

MGI Knock Outs for CACNB4:

miRNA for CACNB4 Gene

miRTarBase miRNAs that target CACNB4

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CACNB4 Gene

Localization for CACNB4 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CACNB4 Gene COMPARTMENTS Subcellular localization image for CACNB4 gene
Compartment Confidence
cytosol 5
plasma membrane 5
nucleus 3
chloroplast 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for CACNB4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with CACNB4: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for CACNB4 Gene

Pathways & Interactions for CACNB4 Gene

genes like me logo Genes that share pathways with CACNB4: view

Gene Ontology (GO) - Biological Process for CACNB4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport TAS 9628818
GO:0006816 calcium ion transport IEA --
GO:0007268 synaptic transmission IBA,TAS --
GO:0007411 axon guidance TAS --
GO:0007528 neuromuscular junction development IBA --
genes like me logo Genes that share ontologies with CACNB4: view

No data available for SIGNOR curated interactions for CACNB4 Gene

Drugs & Compounds for CACNB4 Gene

(8) Drugs for CACNB4 Gene - From: DGIdb, DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Verapamil Approved Pharma Channel blocker, blocker, Target, inhibitor 117
Nimodipine Approved Pharma Potentiation, Activator, Target, inhibitor 20
Dronedarone Approved Pharma Target 0
Spironolactone Approved Pharma Antagonist, Target Mineralocorticoid receptor antagonist 159
Mibefradil Withdrawn Pharma Channel blocker, Target, inhibitor 3

(1) Additional Compounds for CACNB4 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
O-Desmethylverapamil (D-702)
genes like me logo Genes that share compounds with CACNB4: view

Transcripts for CACNB4 Gene

mRNA/cDNA for CACNB4 Gene

Unigene Clusters for CACNB4 Gene

Calcium channel, voltage-dependent, beta 4 subunit:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CACNB4 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6
SP1: - -
SP2: -
SP3: -

Relevant External Links for CACNB4 Gene

GeneLoc Exon Structure for
CACNB4
ECgene alternative splicing isoforms for
CACNB4

Expression for CACNB4 Gene

mRNA expression in normal human tissues for CACNB4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CACNB4 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x7.5), Brain - Cerebellum (x6.1), Brain - Nucleus accumbens (basal ganglia) (x4.6), Brain - Frontal Cortex (BA9) (x4.4), Brain - Caudate (basal ganglia) (x4.3), and Brain - Putamen (basal ganglia) (x4.2).

Protein differential expression in normal tissues from HIPED for CACNB4 Gene

This gene is overexpressed in Plasma (19.7), Monocytes (16.7), Frontal cortex (15.2), and Platelet (14.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CACNB4 Gene



SOURCE GeneReport for Unigene cluster for CACNB4 Gene Hs.120725

mRNA Expression by UniProt/SwissProt for CACNB4 Gene

O00305-CACB4_HUMAN
Tissue specificity: Expressed predominantly in the cerebellum and kidney.
genes like me logo Genes that share expression patterns with CACNB4: view

Protein tissue co-expression partners for CACNB4 Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for CACNB4 Gene

This gene was present in the common ancestor of animals.

Orthologs for CACNB4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CACNB4 36
  • 98 (a)
OneToOne
CACNB4 35
  • 99.49 (n)
  • 100 (a)
cow
(Bos Taurus)
Mammalia CACNB4 35
  • 93.53 (n)
  • 99.23 (a)
CACNB4 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CACNB4 36
  • 100 (a)
OneToOne
CACNB4 35
  • 93.56 (n)
  • 100 (a)
mouse
(Mus musculus)
Mammalia Cacnb4 16
Cacnb4 36
  • 98 (a)
OneToOne
Cacnb4 35
  • 90.09 (n)
  • 98.65 (a)
oppossum
(Monodelphis domestica)
Mammalia CACNB4 36
  • 98 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CACNB4 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cacnb4 35
  • 90.38 (n)
  • 99.15 (a)
chicken
(Gallus gallus)
Aves CACNB4 35
  • 85.28 (n)
  • 99.22 (a)
CACNB4 36
  • 99 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CACNB4 36
  • 97 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cacnb4 35
  • 81.67 (n)
  • 95.12 (a)
zebrafish
(Danio rerio)
Actinopterygii cacnb4a 36
  • 87 (a)
OneToMany
cacnb4b 36
  • 81 (a)
OneToMany
cacnb4a 35
  • 74.58 (n)
  • 86.29 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008028 35
  • 61.94 (n)
  • 70.08 (a)
fruit fly
(Drosophila melanogaster)
Insecta Ca-beta 36
  • 31 (a)
OneToMany
Ca-beta 35
  • 62.18 (n)
  • 69.47 (a)
Ca-bgr 37
  • 65 (a)
worm
(Caenorhabditis elegans)
Secernentea ccb-1 35
  • 63.2 (n)
  • 69.04 (a)
ccb-1 36
  • 49 (a)
OneToMany
ccb-1 37
  • 63 (a)
W10C8.1 37
  • 29 (a)
Species with no ortholog for CACNB4:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CACNB4 Gene

ENSEMBL:
Gene Tree for CACNB4 (if available)
TreeFam:
Gene Tree for CACNB4 (if available)

Paralogs for CACNB4 Gene

Paralogs for CACNB4 Gene

(3) SIMAP similar genes for CACNB4 Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with CACNB4: view

Variants for CACNB4 Gene

Sequence variations from dbSNP and Humsavar for CACNB4 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1805031 Episodic ataxia 5 (EA5) 151,880,879(-) CTACT(G/T)CGGCG nc-transcript-variant, reference, missense
rs756253 -- 151,870,028(-) TAAAA(A/G)CATTA intron-variant
rs770615 -- 151,875,876(+) cgggg(C/T)ggctg intron-variant
rs939239 -- 152,004,536(+) ATACA(C/T)ACACA intron-variant
rs867544 -- 151,928,084(+) GAGAA(A/G)CTCCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CACNB4 Gene

Variant ID Type Subtype PubMed ID
esv34659 CNV Loss 17911159
esv1010582 CNV Deletion 20482838
dgv4344n71 CNV Gain 21882294
esv3709 CNV Deletion 18987735
esv259817 OTHER Complex 20981092
esv2720961 CNV Deletion 23290073
nsv7331 OTHER Inversion 18451855
esv2649483 CNV Deletion 19546169
esv2076247 CNV Deletion 18987734
esv2720963 CNV Deletion 23290073
esv2661033 CNV Deletion 23128226
nsv875290 CNV Loss 21882294
esv2678545 CNV Deletion 23128226
esv2720964 CNV Deletion 23290073
esv992466 CNV Deletion 20482838

Variation tolerance for CACNB4 Gene

Residual Variation Intolerance Score: 13.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.76; 15.96% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CACNB4 Gene

HapMap Linkage Disequilibrium report
CACNB4
Human Gene Mutation Database (HGMD)
CACNB4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CACNB4 Gene

Disorders for CACNB4 Gene

MalaCards: The human disease database

(16) MalaCards diseases for CACNB4 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
episodic ataxia, type 5
  • episodic ataxia type 5
epilepsy, idiopathic generalized 9
  • epilepsy, juvenile myoclonic 6
epilepsy, generalized, with febrile seizures plus, type 5
  • epilepsy, idiopathic generalized, 10
episodic ataxia, type 8
  • episodic ataxia type 8
cacnb4-related juvenile myoclonic epilepsy
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CACB4_HUMAN
  • Epilepsy, idiopathic generalized 9 (EIG9) [MIM:607682]: A disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. {ECO:0000269 PubMed:10762541}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Juvenile myoclonic epilepsy 6 (EJM6) [MIM:607682]: A subtype of idiopathic generalized epilepsy. Patients have afebrile seizures only, with onset in adolescence (rather than in childhood) and myoclonic jerks which usually occur after awakening and are triggered by sleep deprivation and fatigue. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Episodic ataxia 5 (EA5) [MIM:613855]: A disorder characterized by episodes of vertigo and ataxia that last for several hours. Interictal examination show spontaneous downbeat and gaze-evoked nystagmus, mild dysarthria and truncal ataxia. {ECO:0000269 PubMed:10762541}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CACNB4

Genetic Association Database (GAD)
CACNB4
Human Genome Epidemiology (HuGE) Navigator
CACNB4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CACNB4
genes like me logo Genes that share disorders with CACNB4: view

No data available for Genatlas for CACNB4 Gene

Publications for CACNB4 Gene

  1. Calcium channel beta4 (CACNB4): human ortholog of the mouse epilepsy gene lethargic. (PMID: 9628818) Escayg A. … Meisler M.H. (Genomics 1998) 2 3 4 23 67
  2. Role of intraarterial therapy for cerebral vasospasm secondary to aneurysmal subarachnoid hemorrhage. (PMID: 20334460) Weant K.A. … Cook A.M. (Pharmacotherapy 2010) 25 26
  3. Nimodipine enhancement of alpha2 adrenergic modulation of NMDA receptor via a mechanism independent of Ca2+ channel blocking. (PMID: 20335610) Dong C.J. … Hare W.A. (Invest. Ophthalmol. Vis. Sci. 2010) 25 26
  4. L-type calcium channel blockers, morphine and pain: Newer insights. (PMID: 20661350) Kumar R. … Ray S.B. (Indian J Anaesth 2010) 25 26
  5. Verapamil for cluster headache. Clinical pharmacology and possible mode of action. (PMID: 19125880) Tfelt-Hansen P. … Tfelt-Hansen J. (Headache 2009) 25 26

Products for CACNB4 Gene

Sources for CACNB4 Gene

Back to Top

Content