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 g... See more...

Aliases for CACNB4 Gene

Aliases for CACNB4 Gene

  • Calcium Voltage-Gated Channel Auxiliary Subunit Beta 4 2 3 5
  • Voltage-Dependent L-Type Calcium Channel Subunit Beta-4 3 4
  • 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
  • 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 NCAM1 interactions and Activation of cAMP-Dependent PKA. Gene Ontology (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 Summary 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

Additional gene information for CACNB4 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CACNB4 Gene

Genomics for CACNB4 Gene

GeneHancer (GH) Regulatory Elements for CACNB4 Gene

Promoters and enhancers for CACNB4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J152097 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 750.6 +1.4 1444 2.5 ZNF785 ZBTB6 HLF MAX CEBPG SP7 ZSCAN21 PRDM1 POLR2A GLIS2 CACNB4 ENSG00000225214 ARL5A STAM2 PRPF40A RIF1
GH02J151973 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE CraniofacialAtlas 755.8 +126.5 126521 1.7 NFYC HLF ELF3 KAT8 POLR2A KMT2B ZNF561 IRF2 KAT7 SOX13 CACNB4 ENSG00000283228 lnc-ARL5A-3 STAM2 NEB RF01016-008
GH02J152036 Enhancer 0.9 Ensembl ENCODE 19.2 +61.6 61587 3.6 CTCF CC2D1A RAD21 ELF3 KAT8 REST PRDM10 TRIM22 GATAD2A ZNF143 CACNB4 ENSG00000225214 STAM2 RIF1 piR-33614-164 HSALNG0019653
GH02J152062 Enhancer 0.7 Ensembl ENCODE 19 +36.8 36788 2 RELA CREM IKZF1 IKZF2 DPF2 EED RUNX3 FOSL2 EBF1 ATF2 CACNB4 ENSG00000225214 STAM2 RIF1 HSALNG0019653 piR-33614-164
GH02J152054 Enhancer 0.7 Ensembl ENCODE 18 +45.0 44987 2.4 TEAD4 CREM NFE2 RUNX3 MAFG RFX5 FOSL1 BATF JUND CBFA2T3 CACNB4 ENSG00000225214 RIF1 STAM2 HSALNG0019653 piR-33614-164
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CACNB4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CACNB4 gene promoter:
  • AP-1
  • c-Fos
  • c-Jun
  • ITF-2
  • MRF-2
  • POU2F1
  • POU2F1a
  • POU2F1b
  • Tal-1beta
  • YY1

Genomic Locations for CACNB4 Gene

Genomic Locations for CACNB4 Gene
chr2:151,832,768-152,099,988
(GRCh38/hg38)
Size:
267,221 bases
Orientation:
Minus strand
chr2:152,689,285-152,955,593
(GRCh37/hg19)
Size:
266,309 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

Gene Families for CACNB4 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Suggested Antigen Peptide Sequences for CACNB4 Gene

GenScript: Design optimal peptide antigens:
  • Voltage dependent calcium channel beta 4 subunit isoform d (A7BJ74_HUMAN)
  • cDNA, FLJ78944, highly similar to Voltage-dependent L-type calcium channel subunit beta-4 (B4DG40_HUMAN)
  • Calcium channel voltage-dependent subunit beta 4 (CACB4_HUMAN)
  • Voltage dependent calcium channel beta 4 subunit (Q9NZA2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O00305

UniProtKB/Swiss-Prot:

CACB4_HUMAN :
  • Belongs to the calcium channel beta subunit family.
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

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.
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

Phenotypes From GWAS Catalog for CACNB4 Gene

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 --
GO:0005515 protein binding IEA,IPI 25910212
GO:0008331 contributes_to high voltage-gated calcium channel activity IDA,IBA 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 Model Products

CRISPR Products

miRNA for CACNB4 Gene

miRTarBase miRNAs that target CACNB4

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CACNB4

Clone 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 4
nucleus 2
mitochondrion 0

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 IDA,IEA 11880487
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 and Subcellular locations from the Human Protein Atlas (HPA) for CACNB4 Gene

Pathways & Interactions for CACNB4 Gene

PathCards logo

SuperPathways for CACNB4 Gene

SuperPathway Contained pathways
1 DREAM Repression and Dynorphin Expression
.44
.44
.37
.36
.31
2 TCR Signaling (Qiagen)
.68
.68
.54
.49
.39
3 Activation of cAMP-Dependent PKA
.77
.77
.56
4 CCR5 Pathway in Macrophages
.52
.52
.33
5 Sweet Taste Signaling
.72
.72
.46
genes like me logo Genes that share pathways with CACNB4: view

Pathways by source for CACNB4 Gene

1 GeneGo (Thomson Reuters) pathway for CACNB4 Gene
38 Qiagen pathways for CACNB4 Gene
  • Activation of cAMP-Dependent PKA
  • all-trans-Retinoic Acid Signaling in Brain
  • Androgen Signaling
  • BMP Pathway
  • Calpain Protease Regulates Cellular Mechanics

Gene Ontology (GO) - Biological Process for CACNB4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006816 calcium ion transport IEA --
GO:0007268 chemical synaptic transmission IBA 21873635
GO:0007528 neuromuscular junction development IBA 21873635
GO:0034765 regulation of ion transmembrane transport IEA --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Verapamil Approved Pharma Channel blocker, Pore Blocker, Inhibition, Inhibitor, Target, inhibitor, blocker 145
Nimodipine Approved, Investigational Pharma Potentiation, Activator, Target, inhibitor Ca2+ channel blocker (L-type) 33
Safinamide Approved, Investigational Pharma inhibitor MAO-B inhibitor 0
Calcium Approved Nutra 7773
Amlodipine Approved Pharma Target, blocker Calcium channel blocker 563

(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

Drug Products

Transcripts for CACNB4 Gene

mRNA/cDNA for CACNB4 Gene

(11) REFSEQ mRNAs :
(20) Additional mRNA sequences :
(14) Selected AceView cDNA sequences:
(74) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CACNB4

Clone 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 CGAP 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 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.

Evidence on tissue expression from TISSUES for CACNB4 Gene

  • Nervous system(4.7)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CACNB4 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • head
General:
  • peripheral nervous system
genes like me logo Genes that share expression patterns with CACNB4: view

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 33 32
  • 99.49 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CACNB4 33
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CACNB4 33
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CACNB4 33 32
  • 93.56 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CACNB4 33 32
  • 93.53 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cacnb4 32
  • 90.38 (n)
mouse
(Mus musculus)
Mammalia Cacnb4 17 33 32
  • 90.09 (n)
chicken
(Gallus gallus)
Aves CACNB4 33 32
  • 85.28 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CACNB4 33
  • 97 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cacnb4 32
  • 81.67 (n)
zebrafish
(Danio rerio)
Actinopterygii cacnb4b 33
  • 81 (a)
OneToMany
cacnb4a 33 32
  • 74.58 (n)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Ca-&bgr; 34
  • 65 (a)
Ca-beta 33 32
  • 62.18 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008028 32
  • 61.94 (n)
worm
(Caenorhabditis elegans)
Secernentea ccb-1 33 34 32
  • 63.2 (n)
OneToMany
W10C8.1 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for CACNB4: view image

Paralogs for CACNB4 Gene

Paralogs for CACNB4 Gene

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

  • CACB4_HUMAN
  • C9J224_HUMAN
  • E7EN11_HUMAN
  • F8WA06_HUMAN
  • H0Y476_HUMAN
  • Q53S65_HUMAN
  • Q580I4_HUMAN
  • Q9NZA2_HUMAN
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 Variation AA Info Type
rs10497086 benign, Juvenile myoclonic epilepsy, Episodic ataxia 151,835,962(-) A/T 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant
rs1057518688 pathogenic, Epilepsy, idiopathic generalized 9 151,870,850(-) G/ coding_sequence_variant, frameshift, intron_variant, non_coding_transcript_variant
rs1060503173 uncertain-significance, Idiopathic generalized epilepsy 151,839,173(-) A/G coding_sequence_variant, genic_downstream_transcript_variant, non_coding_transcript_variant, synonymous_variant
rs1060503174 uncertain-significance, Idiopathic generalized epilepsy 151,842,007(-) G/A coding_sequence_variant, genic_downstream_transcript_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs111700454 uncertain-significance, Episodic ataxia, Juvenile myoclonic epilepsy 151,833,632(-) A/G 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant

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)

Additional Variant Information 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

(10) MalaCards diseases for CACNB4 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
episodic ataxia, type 5
  • ea5
epilepsy, idiopathic generalized 9
  • epilepsy, idiopathic generalized, susceptibility to, 9
epilepsy, myoclonic juvenile
  • ejm
episodic ataxia
  • isaacs syndrome
epilepsy
  • epilepsy 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.
  • 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. {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.

Additional Disease Information for CACNB4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 beta 4 (CACNB4): human ortholog of the mouse epilepsy gene lethargic. (PMID: 9628818) Escayg A … Meisler MH (Genomics 1998) 2 3 4 23 56
  2. Identification of SH3 domain interaction partners of human FasL (CD178) by phage display screening. (PMID: 19807924) Voss M … Janssen O (BMC immunology 2009) 3 4 56
  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 (Neurobiology of disease 2008) 3 43 56
  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 (Biochemical and biophysical research communications 2007) 3 4 56
  5. Solution structure of the N-terminal A domain of the human voltage-gated Ca2+channel beta4a subunit. (PMID: 16385006) Vendel AC … Horne WA (Protein science : a publication of the Protein Society 2006) 3 4 56

Products for CACNB4 Gene

Sources for CACNB4 Gene