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Aliases for CACNB3 Gene

Aliases for CACNB3 Gene

  • Calcium Voltage-Gated Channel Auxiliary Subunit Beta 3 2 3 5
  • Calcium Channel, Voltage-Dependent, Beta 3 Subunit 2 3
  • CACNLB3 3 4
  • CAB3 3 4
  • Voltage-Dependent L-Type Calcium Channel Subunit Beta-3 3
  • Calcium Channel Voltage-Dependent Subunit Beta 3 4

External Ids for CACNB3 Gene

Previous HGNC Symbols for CACNB3 Gene

  • CACNLB3

Previous GeneCards Identifiers for CACNB3 Gene

  • GC12M049140
  • GC12M049209
  • GC12P048924
  • GC12P047498
  • GC12P049212
  • GC12P046245

Summaries for CACNB3 Gene

Entrez Gene Summary for CACNB3 Gene

  • This gene encodes a regulatory beta subunit of the voltage-dependent calcium channel. Beta subunits are composed of five domains, which contribute to the regulation of surface expression and gating of calcium channels and may also play a role in the regulation of transcription factors and calcium transport. [provided by RefSeq, Oct 2011]

GeneCards Summary for CACNB3 Gene

CACNB3 (Calcium Voltage-Gated Channel Auxiliary Subunit Beta 3) is a Protein Coding gene. Among its related pathways are NFAT and Cardiac Hypertrophy and Myometrial Relaxation and Contraction Pathways. GO annotations related to this gene include protein kinase binding and high voltage-gated calcium channel activity. An important paralog of this gene is CACNB4.

UniProtKB/Swiss-Prot for CACNB3 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 CACNB3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CACNB3 Gene

Genomics for CACNB3 Gene

Regulatory Elements for CACNB3 Gene

Enhancers for CACNB3 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
- Elite enhancer/Elite enhancer-gene association

Enhancers around CACNB3 on UCSC Golden Path with GeneCards custom track

Promoters for CACNB3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Location for CACNB3 Gene

Chromosome:
12
Start:
48,813,794 bp from pter
End:
48,828,943 bp from pter
Size:
15,150 bases
Orientation:
Plus strand

Genomic View for CACNB3 Gene

Genes around CACNB3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CACNB3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CACNB3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CACNB3 Gene

Proteins for CACNB3 Gene

  • Protein details for CACNB3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P54284-CACB3_HUMAN
    Recommended name:
    Voltage-dependent L-type calcium channel subunit beta-3
    Protein Accession:
    P54284
    Secondary Accessions:
    • A8K0Z4
    • B7Z4Q1
    • B7Z973
    • B7ZAK8
    • F5GZW7
    • F5H2P6
    • F8VSG3
    • Q13913

    Protein attributes for CACNB3 Gene

    Size:
    484 amino acids
    Molecular mass:
    54532 Da
    Quaternary structure:
    • The L-type calcium channel is composed of four subunits: alpha-1, alpha-2, beta and gamma. Interacts with CACNA2D4. Interacts with FASLG. Interacts with CBARP; prevents the interaction of CACNB3 with the alpha subunit CACNA1C thereby negatively regulating the activity of the corresponding calcium channel.

    Alternative splice isoforms for CACNB3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CACNB3 Gene

Post-translational modifications for CACNB3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CACNB3 Gene

Domains & Families for CACNB3 Gene

Suggested Antigen Peptide Sequences for CACNB3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P54284

UniProtKB/Swiss-Prot:

CACB3_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 CACNB3: view

Function for CACNB3 Gene

Molecular function for CACNB3 Gene

GENATLAS Biochemistry:
calcium voltage-gated channel (VDCC),L type,dihydropyridine (DHP) sensitive,beta 3 regulatory subunit,55kDa,expressed in brain,smooth muscle,ovary
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 CACNB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005245 contributes_to voltage-gated calcium channel activity IDA 11160515
GO:0005262 calcium channel activity TAS --
GO:0005515 protein binding IEA --
GO:0008331 contributes_to high voltage-gated calcium channel activity ISS 25527503
GO:0019901 protein kinase binding IEA --
genes like me logo Genes that share ontologies with CACNB3: view
genes like me logo Genes that share phenotypes with CACNB3: view

Animal Models for CACNB3 Gene

MGI Knock Outs for CACNB3:

Animal Model Products

CRISPR Products

miRNA for CACNB3 Gene

miRTarBase miRNAs that target CACNB3

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CACNB3 Gene

Localization for CACNB3 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CACNB3 Gene COMPARTMENTS Subcellular localization image for CACNB3 gene
Compartment Confidence
cytosol 5
plasma membrane 5
nucleus 2
chloroplast 1

Gene Ontology (GO) - Cellular Components for CACNB3 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 11160515
GO:0016020 membrane IDA 16525042
GO:0016324 apical plasma membrane IEA --
genes like me logo Genes that share ontologies with CACNB3: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for CACNB3 Gene

Pathways & Interactions for CACNB3 Gene

genes like me logo Genes that share pathways with CACNB3: view

Gene Ontology (GO) - Biological Process for CACNB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport TAS 8119293
GO:0006816 calcium ion transport IDA 11160515
GO:0007268 chemical synaptic transmission IBA --
GO:0007528 neuromuscular junction development IBA --
GO:0050852 T cell receptor signaling pathway IEA --
genes like me logo Genes that share ontologies with CACNB3: view

No data available for SIGNOR curated interactions for CACNB3 Gene

Drugs & Compounds for CACNB3 Gene

(9) Drugs for CACNB3 Gene - From: DrugBank, ApexBio, DGIdb, FDA Approved Drugs, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Nimodipine Approved Pharma Potentiation, Activator, Target, inhibitor 22
verapamil Approved Pharma Channel blocker, blocker, Target, inhibitor 123
Dronedarone Approved Pharma Target 0
Spironolactone Approved Pharma Antagonist, Target 217
Covera-HS Approved January 1996 Pharma 0

(1) Additional Compounds for CACNB3 Gene - From: HMDB

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

(2) ApexBio Compounds for CACNB3 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 CACNB3: view

Transcripts for CACNB3 Gene

mRNA/cDNA for CACNB3 Gene

(9) REFSEQ mRNAs :
(10) Additional mRNA sequences :
(8) Selected AceView cDNA sequences:
(24) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CACNB3 Gene

Calcium channel, voltage-dependent, beta 3 subunit:
Representative Sequences:

CRISPR Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CACNB3 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c · 2d · 2e ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13a · 13b · 13c ^
SP1: - - - - - - - - - -
SP2: - - - - -
SP3: - -
SP4: - -
SP5: - - - - - - - - - -
SP6: - - - - -
SP7: - - - -
SP8: - - -
SP9: - - - - -
SP10:
SP11: - - -
SP12: - -
SP13: - -

ExUns: 14 ^ 15 ^ 16a · 16b · 16c
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for CACNB3 Gene

GeneLoc Exon Structure for
CACNB3
ECgene alternative splicing isoforms for
CACNB3

Expression for CACNB3 Gene

mRNA expression in normal human tissues for CACNB3 Gene

Protein differential expression in normal tissues from HIPED for CACNB3 Gene

This gene is overexpressed in Brain (35.1), Heart (11.3), Frontal cortex (10.8), and Ovary (8.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CACNB3 Gene



Protein tissue co-expression partners for CACNB3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CACNB3 Gene:

CACNB3

SOURCE GeneReport for Unigene cluster for CACNB3 Gene:

Hs.250712

mRNA Expression by UniProt/SwissProt for CACNB3 Gene:

P54284-CACB3_HUMAN
Tissue specificity: Expressed mostly in brain, smooth muscle and ovary.
genes like me logo Genes that share expression patterns with CACNB3: view

Primer Products

No data available for mRNA differential expression in normal tissues for CACNB3 Gene

Orthologs for CACNB3 Gene

This gene was present in the common ancestor of animals.

Orthologs for CACNB3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CACNB3 34
  • 94.04 (n)
  • 98.11 (a)
CACNB3 35
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CACNB3 34
  • 94.17 (n)
  • 98.29 (a)
CACNB3 35
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cacnb3 34
  • 93.65 (n)
  • 99.17 (a)
Cacnb3 16
Cacnb3 35
  • 99 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CACNB3 34
  • 99.79 (n)
  • 99.59 (a)
CACNB3 35
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cacnb3 34
  • 92.84 (n)
  • 98.74 (a)
oppossum
(Monodelphis domestica)
Mammalia CACNB3 35
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CACNB3 35
  • 92 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CACNB3 35
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cacnb3 34
  • 76.44 (n)
  • 85.65 (a)
African clawed frog
(Xenopus laevis)
Amphibia cacnb3-A 34
zebrafish
(Danio rerio)
Actinopterygii cacnb3b 34
  • 74.77 (n)
  • 83.33 (a)
cacnb3a 35
  • 70 (a)
OneToMany
cacnb3b 35
  • 76 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Ca-bgr 36
  • 61 (a)
Ca-beta 35
  • 29 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ccb-1 36
  • 60 (a)
W10C8.1 36
  • 28 (a)
ccb-1 35
  • 47 (a)
OneToMany
Species where no ortholog for CACNB3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • chicken (Gallus gallus)
  • 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 CACNB3 Gene

ENSEMBL:
Gene Tree for CACNB3 (if available)
TreeFam:
Gene Tree for CACNB3 (if available)

Paralogs for CACNB3 Gene

Paralogs for CACNB3 Gene

genes like me logo Genes that share paralogs with CACNB3: view

Variants for CACNB3 Gene

Sequence variations from dbSNP and Humsavar for CACNB3 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs2229954 - 48,827,712(+) CTCCC(A/G)CCACC reference, missense
rs2070615 -- 48,824,388(+) GGGCC(A/G)TGAGT intron-variant
rs11168751 -- 48,825,355(+) TGGAG(C/G)GCATT intron-variant
rs11379348 -- 48,825,027(+) CAGTG(-/T)TTCTA intron-variant
rs76108647 -- 48,822,196(+) AATTG(A/T)GGGAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CACNB3 Gene

Variant ID Type Subtype PubMed ID
nsv698 CNV insertion 18451855
nsv826363 CNV gain 20364138

Variation tolerance for CACNB3 Gene

Residual Variation Intolerance Score: 23.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.41; 27.73% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CACNB3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CACNB3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CACNB3 Gene

Disorders for CACNB3 Gene

Relevant External Links for CACNB3

Genetic Association Database (GAD)
CACNB3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CACNB3

No disorders were found for CACNB3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CACNB3 Gene

Publications for CACNB3 Gene

  1. Cloning, chromosomal location and functional expression of the human voltage-dependent calcium-channel beta 3 subunit. (PMID: 8119293) Collin T. … Nargeot J. (Eur. J. Biochem. 1994) 2 3 4 22 65
  2. Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4. (PMID: 21926972) (Nat. Genet. 2011) 3 46 65
  3. 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 65
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 65
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 65

Products for CACNB3 Gene

Sources for CACNB3 Gene

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