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] See more...

Aliases for CACNB3 Gene

Aliases for CACNB3 Gene

  • Calcium Voltage-Gated Channel Auxiliary Subunit Beta 3 2 3 5
  • Voltage-Dependent L-Type Calcium Channel Subunit Beta-3 3 4
  • Calcium Channel, Voltage-Dependent, Beta 3 Subunit 2 3
  • CACNLB3 3 4
  • CAB3 3 4
  • 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. Diseases associated with CACNB3 include Lambert-Eaton Myasthenic Syndrome and Headache. 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 CACNB4.

UniProtKB/Swiss-Prot Summary for CACNB3 Gene

  • Regulatory subunit of the voltage-gated calcium channel that gives rise to L-type calcium currents (PubMed:8119293). Increases CACNA1B peak calcium current and shifts the voltage dependencies of channel activation and inactivation (By similarity). Increases CACNA1C peak calcium current and shifts the voltage dependencies of channel activation and inactivation (By similarity).

Gene Wiki entry for CACNB3 Gene

Additional gene information for CACNB3 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CACNB3 Gene

Genomics for CACNB3 Gene

GeneHancer (GH) Regulatory Elements for CACNB3 Gene

Promoters and enhancers for CACNB3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CACNB3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CACNB3 gene promoter:
  • C/EBPalpha
  • Cdc5
  • CHOP-10
  • CUTL1
  • deltaCREB
  • FOXF2
  • Pax-4a
  • PPAR-gamma1
  • PPAR-gamma2
  • Sox9

Genomic Locations for CACNB3 Gene

Genomic Locations for CACNB3 Gene
chr12:48,813,794-48,828,943
(GRCh38/hg38)
Size:
15,150 bases
Orientation:
Plus strand
chr12:49,207,577-49,222,726
(GRCh37/hg19)
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:
    • Component of a calcium channel complex consisting of a pore-forming alpha subunit (CACNA1C) and the ancillary subunits CACNB3 and CACNA2D1 (PubMed:29742403). The channel complex contains alpha, beta, gamma and delta subunits in a 1:1:1:1 ratio (Probable). 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

HGNC:
Human Protein Atlas (HPA):
  • FDA approved drug targets
  • Predicted intracellular proteins
  • Transporters

Suggested Antigen Peptide Sequences for CACNB3 Gene

GenScript: Design optimal peptide antigens:
  • Calcium channel voltage-dependent subunit beta 3 (CACB3_HUMAN)

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

UniProtKB/Swiss-Prot Function:
Regulatory subunit of the voltage-gated calcium channel that gives rise to L-type calcium currents (PubMed:8119293). Increases CACNA1B peak calcium current and shifts the voltage dependencies of channel activation and inactivation (By similarity). Increases CACNA1C peak calcium current and shifts the voltage dependencies of channel activation and inactivation (By similarity).
GENATLAS Biochemistry:
calcium voltage-gated channel (VDCC),L type,dihydropyridine (DHP) sensitive,beta 3 regulatory subunit,55kDa,expressed in brain,smooth muscle,ovary

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,TAS 11160515
GO:0005246 calcium channel regulator activity ISS --
GO:0005262 calcium channel activity IEA --
GO:0005515 protein binding IEA,IPI 18535142
GO:0008331 contributes_to high voltage-gated calcium channel activity ISS 25527503
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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CACNB3

Clone 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 UniProtKB/Swiss-Prot for CACNB3 Gene

Cytoplasm.

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 4
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:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane TAS --
GO:0005891 voltage-gated calcium channel complex IDA,TAS 11160515
GO:0016020 membrane IDA 16525042
genes like me logo Genes that share ontologies with CACNB3: view

Pathways & Interactions for CACNB3 Gene

PathCards logo

SuperPathways for CACNB3 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 CACNB3: view

Pathways by source for CACNB3 Gene

1 GeneGo (Thomson Reuters) pathway for CACNB3 Gene
38 Qiagen pathways for CACNB3 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 CACNB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006816 calcium ion transport IDA,IEA 11160515
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 CACNB3: view

No data available for SIGNOR curated interactions for CACNB3 Gene

Drugs & Compounds for CACNB3 Gene

(23) Drugs for CACNB3 Gene - From: DrugBank, ApexBio, DGIdb, and HMDB

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
Amlodipine Approved Pharma Target, blocker Calcium channel blocker 563
Bioallethrin Approved, Experimental Pharma Target, blocker 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

(4) REFSEQ mRNAs :
(17) Additional mRNA sequences :
(8) Selected AceView cDNA sequences:
(24) 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 CACNB3

Clone 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 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, 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, colon 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

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 32
  • 99.79 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CACNB3 33
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CACNB3 33 32
  • 94.17 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CACNB3 33 32
  • 94.04 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Cacnb3 17 33 32
  • 93.65 (n)
rat
(Rattus norvegicus)
Mammalia Cacnb3 32
  • 92.84 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CACNB3 33
  • 92 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CACNB3 33
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cacnb3 32
  • 76.44 (n)
African clawed frog
(Xenopus laevis)
Amphibia cacnb3-A 32
zebrafish
(Danio rerio)
Actinopterygii cacnb3b 33 32
  • 74.77 (n)
OneToMany
cacnb3a 33
  • 70 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Ca-&bgr; 34
  • 61 (a)
Ca-beta 33
  • 29 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ccb-1 33 34
  • 47 (a)
OneToMany
W10C8.1 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for CACNB3: view image

Paralogs for CACNB3 Gene

Paralogs for CACNB3 Gene

(4) SIMAP similar genes for CACNB3 Gene using alignment to 10 proteins:

  • CACB3_HUMAN
  • F8VNV8_HUMAN
  • F8VU10_HUMAN
  • F8VUW8_HUMAN
  • F8VV14_HUMAN
  • F8VWK1_HUMAN
  • F8W0F8_HUMAN
  • F8W1N3_HUMAN
  • H0YHK1_HUMAN
  • H0YHY2_HUMAN
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 Variation AA Info Type
rs1000017083 -- 48,826,157(+) T/C intron_variant
rs1000292650 -- 48,819,675(+) T/C 5_prime_UTR_variant, intron_variant
rs1000605683 -- 48,816,459(+) G/A 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant
rs1000732899 -- 48,815,160(+) G/A genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000796469 -- 48,823,206(+) G/A 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)

Additional Variant Information for CACNB3 Gene

Human Gene Mutation Database (HGMD)
CACNB3
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

MalaCards: The human disease database

(2) MalaCards diseases for CACNB3 Gene - From: HGMD and GeneCards

Disorder Aliases PubMed IDs
lambert-eaton myasthenic syndrome
  • eaton-lambert syndrome
headache
  • headache disorder
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CACNB3

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

No data available for 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 23 56
  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 43 56
  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 56
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 56
  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 56

Products for CACNB3 Gene

Sources for CACNB3 Gene