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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 Arrhythmogenic right ventricular cardiomyopathy (ARVC) and Fc-GammaR Pathway. 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

Additional gene information for CACNB3 Gene

No data available for CIViC summary , 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
GH12H049055 1.7 FANTOM5 ENCODE dbSUPER 19.7 +244.7 244709 6 FEZF1 DMAP1 YY1 ZNF416 ZNF143 ZNF548 SP3 NFYC ZFP41 MEF2D DDX23 LOC390314 LMBR1L CCNT1 KANSL2 KMT2D SENP1 LOC100422296 PRPF40B OR5BK1P
GH12H047831 1.7 FANTOM5 Ensembl ENCODE dbSUPER 11.4 -979.5 -979467 4 HDGF ATF1 TCF12 GATA2 ATF7 RUNX3 MCM3 SMARCA4 ZNF184 GLIS1 LOC390314 SENP1 LOC102725258 CCNT1 HDAC7 CCDC184 H1FNT KANSL2 RPAP3 CACNB3
GH12H048809 1.6 Ensembl ENCODE dbSUPER 11.2 -0.5 -478 6 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A ZNF2 ZBTB7B ZNF207 ZNF143 DDX23 CCNT1 LMBR1L SENP1 KMT2D LOC390314 KANSL2 LOC101927267 HDAC7 CACNB3
GH12H048714 1.4 ENCODE dbSUPER 11.6 -97.3 -97338 3 MLX DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC MEF2D SSRP1 ZNF610 KANSL2 DDX23 LMBR1L SENP1 KMT2D CCNT1 LOC390314 CCDC184 OR11M1P LALBA
GH12H049129 1.5 ENCODE dbSUPER 10 +317.6 317573 4 MLX FEZF1 DMAP1 YBX1 YY1 SLC30A9 ZNF416 ZNF143 ZNF548 SP3 DDX23 SMARCD1 LMBR1L LOC390314 KMT2D BCDIN3D PRPF40B KANSL2 CCNT1 LOC100422296
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000051531 1206 2001 HDGF PKNOX1 ARID4B SIN3A ZNF2 ZBTB7B ZNF207 ZNF143 DEK SP3

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 (By similarity). Interacts with CACNA2D4 (PubMed:12181424). Interacts with FASLG (PubMed:19807924). Interacts with CBARP; prevents the interaction of CACNB3 with the alpha subunit CACNA1C thereby negatively regulating the activity of the corresponding calcium channel (By similarity).

    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

Gene 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 :
  • 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 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.

Phenotypes From GWAS Catalog for CACNB3 Gene

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,IEA 11160515
GO:0005262 calcium channel activity TAS --
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

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for CACNB3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
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 CACNB3 gene
Compartment Confidence
plasma membrane 5
cytosol 5
nucleus 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
  • Vesicles (2)
See all subcellular structures

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,IEA 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:0006811 ion transport IEA --
GO:0006816 calcium ion transport IEA,IDA 11160515
GO:0007268 chemical synaptic transmission IBA --
GO:0007528 neuromuscular junction development IBA --
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

(13) 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 27
Verapamil Approved Pharma Channel blocker, blocker, Target, inhibitor 130
Safinamide Approved Pharma inhibitor MAO-B inhibitor 0
Calcium Citrate Approved Pharma Transporter, substrate 0
Calcium Phosphate Approved Pharma Transporter, substrate 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

Drug Products

Transcripts for CACNB3 Gene

mRNA/cDNA for CACNB3 Gene

Unigene Clusters for CACNB3 Gene

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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for CACNB3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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.

Evidence on tissue expression from TISSUES for CACNB3 Gene

  • Nervous system(4.9)
  • Intestine(4.1)
genes like me logo Genes that share expression patterns with CACNB3: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia CACNB3 33 34
  • 99.79 (n)
oppossum
(Monodelphis domestica)
Mammalia CACNB3 34
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CACNB3 33 34
  • 94.17 (n)
cow
(Bos Taurus)
Mammalia CACNB3 33 34
  • 94.04 (n)
mouse
(Mus musculus)
Mammalia Cacnb3 33 16 34
  • 93.65 (n)
rat
(Rattus norvegicus)
Mammalia Cacnb3 33
  • 92.84 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CACNB3 34
  • 92 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CACNB3 34
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cacnb3 33
  • 76.44 (n)
African clawed frog
(Xenopus laevis)
Amphibia cacnb3-A 33
zebrafish
(Danio rerio)
Actinopterygii cacnb3b 33 34
  • 74.77 (n)
cacnb3a 34
  • 70 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Ca-bgr 35
  • 61 (a)
Ca-beta 34
  • 29 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ccb-1 35 34
  • 60 (a)
W10C8.1 35
  • 28 (a)
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
rs1000017083 -- 48,826,157(+) CCTCC(C/T)TGTCT intron-variant
rs1000292650 -- 48,819,675(+) TGAGC(C/T)CTTGC intron-variant, utr-variant-5-prime
rs1000605683 -- 48,816,459(+) TGACA(A/G)GCACA intron-variant, upstream-variant-2KB
rs1000732899 -- 48,815,160(+) CGGAG(A/G)ATGGG intron-variant, upstream-variant-2KB
rs1000796469 -- 48,823,206(+) TAGGA(A/G)GGGCC intron-variant, upstream-variant-2KB

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 (European journal of biochemistry 1994) 2 3 4 22 60
  2. Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4. (PMID: 21926972) Psychiatric GWAS Consortium Bipolar Disorder Working Group (Nature genetics 2011) 3 45 60
  3. 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 60
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60

Products for CACNB3 Gene

Sources for CACNB3 Gene

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