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Aliases for CACNB4 Gene

Aliases for CACNB4 Gene

  • Calcium Voltage-Gated Channel Auxiliary Subunit Beta 4 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
  • Voltage-Dependent L-Type Calcium Channel Subunit Beta-4 3
  • Calcium Channel, Voltage-Dependent, Beta 4 Subunit 2
  • 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), juvenile myoclonic epilepsy (JME), and episodic ataxia, type 5. [provided by RefSeq, Aug 2016]

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 DREAM Repression and Dynorphin Expression and Sweet Taste Signaling. GO annotations related to this gene include protein kinase binding and high voltage-gated calcium channel activity. An important paralog of this gene is CACNB2.

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

Enhancers for CACNB4 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02F152062 0.9 Ensembl ENCODE 18.9 +37.2 37210 1.5 SRF MTA2 EBF1 TBX21 RELA SMARCA4 EED IKZF1 CREM CACNB4 ENSG00000225214 STAM2 ENSG00000283228
GH02F152054 1.1 Ensembl ENCODE 12.7 +44.8 44787 1.7 RFX5 RARA CREM THAP11 HMG20B SP5 KAT8 NFIL3 KLF16 RCOR2 CACNB4 ENSG00000225214 RIF1 STAM2 ENSG00000283228
GH02F152037 0.7 Ensembl ENCODE 19.1 +61.6 61565 1.6 SMARCA4 PRDM10 FEZF1 CACNB4 ENSG00000225214 RIF1 ENSG00000283228
GH02F151994 1 ENCODE 9.3 +104.3 104292 2.4 MLX ARID4B DMAP1 ZNF48 SLC30A9 SP5 NFYC MIER2 PPARG KAT8 CACNB4 STAM2 ENSG00000283228 ENSG00000225214
GH02F152025 1.2 Ensembl ENCODE 5.4 +74.2 74160 0.9 ELF3 ATF1 CBX3 ARNT ARID4B THRB ZNF48 ZNF2 RAD21 RARA STAM2 CACNB4 ENSG00000283228 ENSG00000225214
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CACNB4 on UCSC Golden Path with GeneCards custom track

Promoters for CACNB4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001828373 1588 2001 ZNF48 GLIS2 KLF7 FOS ZNF263 SP3 ZNF610 ZSCAN16 GLIS1 KDM1A

Genomic Location for CACNB4 Gene

Chromosome:
2
Start:
151,832,768 bp from pter
End:
152,099,988 bp from pter
Size:
267,221 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 (PubMed:11880487). Interacts with FASLG (PubMed:19807924). Interacts with CBARP (By similarity).

    Three dimensional structures from OCA and Proteopedia for CACNB4 Gene

    Alternative splice isoforms for CACNB4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CACNB4 Gene

Post-translational modifications for CACNB4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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:0005245 contributes_to voltage-gated calcium channel activity IEA,IDA 16525042
GO:0005262 calcium channel activity IEA,TAS --
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 Model Products

miRNA for CACNB4 Gene

miRTarBase miRNAs that target CACNB4

Flow Cytometry Products

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

Localization for CACNB4 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CACNB4 gene
Compartment Confidence
plasma membrane 5
cytosol 5
nucleus 3
mitochondrion 1

Gene Ontology (GO) - Cellular Components for CACNB4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane TAS --
GO:0005891 voltage-gated calcium channel complex IEA,IDA 16525042
GO:0009898 cytoplasmic side of plasma membrane TAS 16385006
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 IEA,TAS 9628818
GO:0006811 ion transport IEA --
GO:0006816 calcium ion transport IEA --
GO:0007268 chemical synaptic transmission IBA --
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

(9) Drugs for CACNB4 Gene - From: DrugBank, ApexBio, DGIdb, FDA Approved Drugs, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Nimodipine Approved Pharma Potentiation, Activator, Target, inhibitor 23
Verapamil Approved Pharma Channel blocker, blocker, Target, inhibitor 125
Dronedarone Approved Pharma Target 0
Spironolactone Approved Pharma Antagonist, Target 222
Covera-HS Approved January 1996 Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
O-Desmethylverapamil (D-702)

(2) ApexBio Compounds for CACNB4 Gene

Compound Action Cas Number
Nimodipine 66085-59-4
Safinamide MAO-B inhibitor 133865-89-1
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:

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE 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



Protein tissue co-expression partners for CACNB4 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CACNB4 Gene:

CACNB4

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

Primer 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 34 35
  • 99.49 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CACNB4 35
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CACNB4 35
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CACNB4 34 35
  • 93.56 (n)
cow
(Bos Taurus)
Mammalia CACNB4 34 35
  • 93.53 (n)
rat
(Rattus norvegicus)
Mammalia Cacnb4 34
  • 90.38 (n)
mouse
(Mus musculus)
Mammalia Cacnb4 34 16 35
  • 90.09 (n)
chicken
(Gallus gallus)
Aves CACNB4 34 35
  • 85.28 (n)
lizard
(Anolis carolinensis)
Reptilia CACNB4 35
  • 97 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cacnb4 34
  • 81.67 (n)
zebrafish
(Danio rerio)
Actinopterygii cacnb4b 35
  • 81 (a)
OneToMany
cacnb4a 34 35
  • 74.58 (n)
fruit fly
(Drosophila melanogaster)
Insecta Ca-bgr 36
  • 65 (a)
Ca-beta 34 35
  • 62.18 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008028 34
  • 61.94 (n)
worm
(Caenorhabditis elegans)
Secernentea ccb-1 36 34 35
  • 63.2 (n)
W10C8.1 36
  • 29 (a)
Species where no ortholog for CACNB4 was found in the sources mined by GeneCards:
  • 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) [MIM:613855], Pathogenic 151,880,879(-) CTACT(G/T)CGGCG nc-transcript-variant, reference, missense, utr-variant-5-prime
rs61736804 Likely benign 151,860,817(+) ATTGA(A/T)ATCCT intron-variant, nc-transcript-variant, reference, synonymous-codon
rs1805029 Uncertain significance 151,839,269(-) AGTAG(A/G)AACCG nc-transcript-variant, reference, synonymous-codon
rs200092211 Uncertain significance 152,099,007(+) AGGAG(A/G)ACATC nc-transcript-variant, upstream-variant-2KB, reference, missense
rs200662010 Uncertain significance 152,098,968(+) AGTGC(C/G)GCCCG nc-transcript-variant, upstream-variant-2KB, reference, missense

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

Variant ID Type Subtype PubMed ID
dgv2059n106 CNV tandem duplication 24896259
dgv2060n106 CNV deletion 24896259
dgv2061n106 CNV tandem duplication 24896259
esv1010582 CNV deletion 20482838
esv2076247 CNV deletion 18987734
esv2649483 CNV deletion 19546169
esv2661033 CNV deletion 23128226
esv2678545 CNV deletion 23128226
esv2720961 CNV deletion 23290073
esv2720963 CNV deletion 23290073
esv2720964 CNV deletion 23290073
esv3302843 CNV tandem duplication 20981092
esv34659 CNV loss 17911159
esv3560356 CNV deletion 23714750
esv3592922 CNV loss 21293372
esv3592924 CNV loss 21293372
esv3592925 CNV loss 21293372
esv3592926 CNV loss 21293372
esv3592927 CNV loss 21293372
esv3592929 CNV loss 21293372
esv3592930 CNV gain 21293372
esv3709 CNV loss 18987735
esv992466 CNV deletion 20482838
nsv1135879 CNV deletion 24896259
nsv1142311 CNV deletion 24896259
nsv1153071 CNV deletion 26484159
nsv1153175 CNV deletion 26484159
nsv7331 OTHER inversion 18451855

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

Human Gene Mutation Database (HGMD)
CACNB4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CACNB4

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

Disorders for CACNB4 Gene

MalaCards: The human disease database

(11) MalaCards diseases for CACNB4 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, 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
cacnb4-related juvenile myoclonic epilepsy
episodic ataxia
  • isaacs syndrome
- 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.
  • 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.
  • 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.

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 22 64
  2. Identification of SH3 domain interaction partners of human FasL (CD178) by phage display screening. (PMID: 19807924) Voss M. … Janssen O. (BMC Immunol. 2009) 3 4 64
  3. A CACNB4 mutation shows that altered Ca(v)2.1 function may be a genetic modifier of severe myoclonic epilepsy in infancy. (PMID: 18755274) Ohmori I. … Matsui H. (Neurobiol. Dis. 2008) 3 46 64
  4. The GK domain of the voltage-dependent calcium channel beta subunit is essential for binding to the alpha subunit. (PMID: 17618603) Kobayashi T. … Tohse N. (Biochem. Biophys. Res. Commun. 2007) 3 4 64
  5. Solution structure of the N-terminal A domain of the human voltage-gated Ca2+channel beta4a subunit. (PMID: 16385006) Vendel A.C. … Horne W.A. (Protein Sci. 2006) 3 4 64

Products for CACNB4 Gene

Sources for CACNB4 Gene

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