CACNB3 Gene (Protein Coding)

Calcium Voltage-Gated Channel Auxiliary Subunit Beta 3

GC12P048813
GIFtS:
43
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
  • CACNB3 5

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 Headache and Distal Hereditary Motor Neuronopathy Type 2. Among its related pathways are Presenilin-Mediated Signaling and Cardiac conduction. 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 Pubs

Download GeneHancer 2017 data
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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CACNB3

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

Latest Assembly
chr12:48,813,794-48,828,941
(GRCh38/hg38)
Size:
15,148 bases
Orientation:
Plus strand

Previous Assembly
chr12:49,208,263-49,222,724
(GRCh37/hg19 by Entrez Gene)
Size:
14,462 bases
Orientation:
Plus strand

chr12:49,207,577-49,222,724
(GRCh37/hg19 by Ensembl)
Size:
15,148 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 Structure • Gene Density

RefSeq DNA sequence for CACNB3 Gene

Proteins for CACNB3 Gene

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  • 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

Protein Expression for CACNB3 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for CACNB3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CACNB3 Gene

ENSEMBL proteins:
REFSEQ proteins:

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

Protein Domains for CACNB3 Gene

InterPro:
Blocks:
  • L-type calcium channel beta subunit signature
  • L-type calcium channel beta-3 subunit signature

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

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  6. Cell Lines for research

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:0005244 voltage-gated ion channel activity IEA --
GO:0005245 contributes_to voltage-gated calcium channel activity TAS,IDA 11160515
GO:0005246 calcium channel regulator activity ISS --
GO:0005262 calcium channel activity IEA --
GO:0005515 protein binding IEA,IPI 18535142
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 Models for research

miRNA for CACNB3 Gene

miRTarBase miRNAs that target CACNB3

Inhibitory RNAs for research

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

Clone products for research

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
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1

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 TAS,IDA 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
BMP Pathway
.44
DREAM Repression and Dynorphin Expression
.44
nNOS Signaling in Skeletal Muscle
.37
Caspase Cascade
.36
Calpain Protease Regulates Cellular Mechanics
.31
Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels
.01
2 TCR Signaling (Qiagen)
PKC-Theta Pathway
.68
TCR Signaling
.68
ITK and TCR Signaling
.54
Fc-EpsilonRI Pathway
.49
PDGF Pathway
.39
3 Activation of cAMP-Dependent PKA
Activation of cAMP-Dependent PKA
.77
cAMP Pathway
.77
PKA Signaling
.56
4 CCR5 Pathway in Macrophages
Androgen Signaling
.52
CCR5 Pathway in Macrophages
.52
Chemokine Signaling
.33
5 Sweet Taste Signaling
Melatonin Signaling
.72
Sweet Taste Signaling
.72
Cellular Effects of Sildenafil
.46
genes like me logo Genes that share pathways with CACNB3: view

Pathways by source for CACNB3 Gene

1 PharmGKB pathway for CACNB3 Gene
1 GeneGo (Thomson Reuters) pathway for CACNB3 Gene
  • Transcription CREB pathway
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 IEA,IDA 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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Nimodipine Approved, Investigational Pharma Target, inhibitor Ca2+ channel blocker (L-type) 44
Safinamide Approved, Investigational Pharma inhibitor MAO-B inhibitor 0
Verapamil Approved Pharma blocker 145
Amiodarone Approved, Investigational Pharma Target, inhibitor 141
Bioallethrin Approved, Experimental Pharma Target, Target, agonist, 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 for research

Transcripts for CACNB3 Gene

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mRNA/cDNA for CACNB3 Gene

4 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
24 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

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

Clone products for research

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

Expression for CACNB3 Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CACNB3 Gene

mRNA expression in normal human tissues for CACNB3 Gene
mRNA expression by BioGPS for CACNB3 GenemRNA expression by GTEx 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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

Primer products for research

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 29 30
  • 99.79 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia CACNB3 30
  • 95 (a)
 OneToOne
Dog
(Canis familiaris)
 Mammalia CACNB3 29 30
  • 94.17 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia CACNB3 29 30
  • 94.04 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Cacnb3 29 16 30
  • 93.65 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Cacnb3 29
  • 92.84 (n)
Platypus
(Ornithorhynchus anatinus)
 Mammalia CACNB3 30
  • 92 (a)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia CACNB3 30
  • 72 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia cacnb3 29
  • 76.44 (n)
African clawed frog
(Xenopus laevis)
 Amphibia cacnb3-A 29
Zebrafish
(Danio rerio)
 Actinopterygii cacnb3b 29 30
  • 74.77 (n)
 OneToMany
cacnb3a 30
  • 70 (a)
 OneToMany
Fruit Fly
(Drosophila melanogaster)
 Insecta Ca-&bgr; 31
  • 61 (a)
Ca-beta 30
  • 29 (a)
 OneToMany
Worm
(Caenorhabditis elegans)
 Secernentea ccb-1 30 31
  • 47 (a)
 OneToMany
W10C8.1 31
  • 28 (a)
Species where no ortholog for CACNB3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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
Alliance of Genome Resources:
Additional Orthologs for CACNB3

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

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CACNB3 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs73298199 Benign: not provided 48,824,661(+) C/A
NM_000725.4(CACNB3):c.408-8C>A 		INTRON
rs2229954 -- p.Arg423His

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CACNB3 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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
Leiden Open Variation Database (LOVD)
CACNB3

SNP Genotyping and Copy Number Assays for research

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: COP and GCD

Disorder Aliases PubMed IDs
headache
  • headache disorder
distal hereditary motor neuronopathy type 2
  • distal hereditary motor neuropathy type ii
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CACNB3

Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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 ā€¦ Nargeot J (European journal of biochemistry 1994) 2 3 4 22
  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 40
  3. Identification of SH3 domain interaction partners of human FasL (CD178) by phage display screening. (PMID: 19807924) Voss M ā€¦ Janssen O (BMC immunology 2009) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T ā€¦ Sugano S (Nature genetics 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS ā€¦ MGC Project Team (Genome research 2004) 3 4

ExternalLinks

View latest publications for CACNB3 gene in Mastermind

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