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Aliases for CACNB2 Gene

Aliases for CACNB2 Gene

  • Calcium Voltage-Gated Channel Auxiliary Subunit Beta 2 2 3
  • Calcium Channel, Voltage-Dependent, Beta 2 Subunit 2 3 5
  • Calcium Channel Voltage-Dependent Subunit Beta 2 3 4
  • Lambert-Eaton Myasthenic Syndrome Antigen B 3 4
  • CACNLB2 3 4
  • MYSB 3 4
  • CAB2 3 4
  • Myasthenic (Lambert-Eaton) Syndrome Antigen B 3
  • CAVB2 3

External Ids for CACNB2 Gene

Previous HGNC Symbols for CACNB2 Gene

  • MYSB
  • CACNLB2

Previous GeneCards Identifiers for CACNB2 Gene

  • GC10P018266
  • GC10P018579
  • GC10P018433
  • GC10P018469

Summaries for CACNB2 Gene

Entrez Gene Summary for CACNB2 Gene

  • This gene encodes a subunit of a voltage-dependent calcium channel protein that is a member of the voltage-gated calcium channel superfamily. The gene product was originally identified as an antigen target in Lambert-Eaton myasthenic syndrome, an autoimmune disorder. Mutations in this gene are associated with Brugada syndrome. Alternatively spliced variants encoding different isoforms have been described. [provided by RefSeq, Feb 2013]

GeneCards Summary for CACNB2 Gene

CACNB2 (Calcium Voltage-Gated Channel Auxiliary Subunit Beta 2) is a Protein Coding gene. Diseases associated with CACNB2 include brugada syndrome 4 and brugada syndrome. Among its related pathways are cGMP-PKG signaling pathway and Hypertrophic cardiomyopathy (HCM). GO annotations related to this gene include calcium channel activity and high voltage-gated calcium channel activity. An important paralog of this gene is CACNB4.

UniProtKB/Swiss-Prot for CACNB2 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 CACNB2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CACNB2 Gene

Genomics for CACNB2 Gene

Regulatory Elements for CACNB2 Gene

Enhancers for CACNB2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around CACNB2 on UCSC Golden Path with GeneCards custom track

Genomic Location for CACNB2 Gene

Chromosome:
10
Start:
18,140,677 bp from pter
End:
18,541,869 bp from pter
Size:
401,193 bases
Orientation:
Plus strand

Genomic View for CACNB2 Gene

Genes around CACNB2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CACNB2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CACNB2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CACNB2 Gene

Proteins for CACNB2 Gene

  • Protein details for CACNB2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q08289-CACB2_HUMAN
    Recommended name:
    Voltage-dependent L-type calcium channel subunit beta-2
    Protein Accession:
    Q08289
    Secondary Accessions:
    • A6PVM5
    • A6PVM7
    • A6PVM8
    • O00304
    • Q5QJ99
    • Q5QJA0
    • Q5VVG9
    • Q5VVH0
    • Q5VWV6
    • Q6TME1
    • Q6TME2
    • Q6TME3
    • Q8WX81
    • Q96NZ3
    • Q96NZ4
    • Q96NZ5
    • Q9BWU2
    • Q9HD32
    • Q9Y340
    • Q9Y341

    Protein attributes for CACNB2 Gene

    Size:
    660 amino acids
    Molecular mass:
    73581 Da
    Quaternary structure:
    • The L-type calcium channel is composed of four subunits: alpha-1, alpha-2, beta and gamma. Interacts with CAMK2D (By similarity). Interacts with RRAD. Interaction with RRAD regulates the trafficking of CACNA1C to the cell membrane. Interacts with TMIGD2. Interacts with CBARP.
    SequenceCaution:
    • Sequence=AAB51370.1; Type=Frameshift; Positions=515; Evidence={ECO:0000305};

    Alternative splice isoforms for CACNB2 Gene

neXtProt entry for CACNB2 Gene

Proteomics data for CACNB2 Gene at MOPED

Post-translational modifications for CACNB2 Gene

No data available for DME Specific Peptides for CACNB2 Gene

Domains & Families for CACNB2 Gene

Graphical View of Domain Structure for InterPro Entry

Q08289

UniProtKB/Swiss-Prot:

CACB2_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 CACNB2: view

Function for CACNB2 Gene

Molecular function for CACNB2 Gene

GENATLAS Biochemistry:
calcium voltage-gated channel (VDCC),L (long lasting) type,dehydropyridine (DHP) sensitive,beta 2 regulatory subunit,55kDa
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 CACNB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008331 contributes_to high voltage-gated calcium channel activity IDA 1309651
GO:0019904 protein domain specific binding IEA --
GO:0051015 actin filament binding ISS 25533460
GO:0051219 phosphoprotein binding IEA --
GO:0086056 contributes_to voltage-gated calcium channel activity involved in AV node cell action potential IMP 17224476
genes like me logo Genes that share ontologies with CACNB2: view
genes like me logo Genes that share phenotypes with CACNB2: view

Human Phenotype Ontology for CACNB2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CACNB2 Gene

MGI Knock Outs for CACNB2:

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CACNB2 Gene

Localization for CACNB2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CACNB2 Gene

Cell membrane, sarcolemma; Peripheral membrane protein; Cytoplasmic side.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CACNB2 Gene COMPARTMENTS Subcellular localization image for CACNB2 gene
Compartment Confidence
plasma membrane 5
cytosol 3
nucleus 3

No data available for Gene Ontology (GO) - Cellular Components for CACNB2 Gene

Pathways & Interactions for CACNB2 Gene

genes like me logo Genes that share pathways with CACNB2: view

SIGNOR curated interactions for CACNB2 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for CACNB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007268 synaptic transmission IBA --
GO:0007411 axon guidance TAS --
GO:0007601 visual perception IEA --
GO:0051928 positive regulation of calcium ion transport IDA 1309651
GO:0061337 cardiac conduction TAS --
genes like me logo Genes that share ontologies with CACNB2: view

Drugs & Compounds for CACNB2 Gene

(16) Drugs for CACNB2 Gene - From: DrugBank, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Felodipine Approved, Investigational Pharma Potentiation, Activator, blocker, Target, inhibitor 22
Verapamil Approved Pharma Channel blocker, blocker, Target, inhibitor 122
Isradipine Approved Pharma Gating inhibitor, Target, inhibitor 12
Magnesium Sulfate Approved Pharma Target 158
Nicardipine Approved Pharma Antagonist, Target, inhibitor 29

(1) Additional Compounds for CACNB2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
O-Desmethylverapamil (D-702)
genes like me logo Genes that share compounds with CACNB2: view

Transcripts for CACNB2 Gene

mRNA/cDNA for CACNB2 Gene

(14) REFSEQ mRNAs :
(29) Additional mRNA sequences :
(2) Selected AceView cDNA sequences:
(16) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CACNB2 Gene

Calcium channel, voltage-dependent, beta 2 subunit:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CACNB2 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^
SP1: - - - - - - - - - - -
SP2: - - - - - - - - - -
SP3: - - - - - - - - - -
SP4: - - - - - - -
SP5: - - - - -
SP6: - - - - -
SP7: - - - -
SP8: - - - - - - - - - - - - - - - - - -
SP9: - - -
SP10: - -
SP11:
SP12: -

ExUns: 20 ^ 21a · 21b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for CACNB2 Gene

GeneLoc Exon Structure for
CACNB2
ECgene alternative splicing isoforms for
CACNB2

Expression for CACNB2 Gene

mRNA expression in normal human tissues for CACNB2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CACNB2 Gene

This gene is overexpressed in Urinary Bladder (33.4), Retina (18.0), and Fetal Brain (10.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for CACNB2 Gene



SOURCE GeneReport for Unigene cluster for CACNB2 Gene Hs.59093

mRNA Expression by UniProt/SwissProt for CACNB2 Gene

Q08289-CACB2_HUMAN
Tissue specificity: Expressed in all tissues.
genes like me logo Genes that share expression patterns with CACNB2: view

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for CACNB2 Gene

Orthologs for CACNB2 Gene

This gene was present in the common ancestor of animals.

Orthologs for CACNB2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CACNB2 35
  • 90.06 (n)
  • 94.24 (a)
CACNB2 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CACNB2 35
  • 92.67 (n)
  • 96.42 (a)
CACNB2 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cacnb2 35
  • 90.57 (n)
  • 94.65 (a)
Cacnb2 16
Cacnb2 36
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CACNB2 35
  • 99.65 (n)
  • 99.85 (a)
CACNB2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cacnb2 35
  • 90.56 (n)
  • 94.58 (a)
oppossum
(Monodelphis domestica)
Mammalia CACNB2 36
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CACNB2 36
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves CACNB2 35
  • 84.42 (n)
  • 92.64 (a)
CACNB2 36
  • 91 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CACNB2 36
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cacnb2 35
  • 77.93 (n)
  • 86.2 (a)
zebrafish
(Danio rerio)
Actinopterygii cacnb2a 35
  • 68.31 (n)
  • 75.54 (a)
cacnb2a 36
  • 63 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Ca-bgr 37
  • 65 (a)
worm
(Caenorhabditis elegans)
Secernentea ccb-1 37
  • 63 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4137 35
Species with no ortholog for CACNB2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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 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 CACNB2 Gene

ENSEMBL:
Gene Tree for CACNB2 (if available)
TreeFam:
Gene Tree for CACNB2 (if available)

Paralogs for CACNB2 Gene

Paralogs for CACNB2 Gene

(5) SIMAP similar genes for CACNB2 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with CACNB2: view

Variants for CACNB2 Gene

Sequence variations from dbSNP and Humsavar for CACNB2 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
VAR_036350 A colorectal cancer sample
VAR_044041 Brugada syndrome 4 (BRGDA4)
rs1419250 -- 18,279,119(-) TAAAA(C/T)GTCCT intron-variant
rs1419251 -- 18,302,633(-) ACTTA(C/G)GGTTG intron-variant
rs1419252 -- 18,302,451(-) atggg(C/T)atttg intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CACNB2 Gene

Variant ID Type Subtype PubMed ID
nsv522505 CNV Loss 19592680
esv2733695 CNV Deletion 23290073
esv4994 CNV Deletion 18987735
esv2656979 CNV Deletion 23128226
dgv13n6 CNV Loss 16902084
esv29251 CNV Loss 19812545
esv259580 OTHER Complex 20981092
nsv825262 CNV Loss 20364138
esv2662374 CNV Deletion 23128226
esv2733706 CNV Deletion 23290073
nsv5977 CNV Insertion 18451855
esv2675755 CNV Deletion 23128226
esv29421 CNV Loss 19812545
esv2677936 CNV Deletion 23128226
esv2733717 CNV Deletion 23290073
esv1588507 CNV Deletion 17803354
esv1001661 CNV Deletion 20482838
esv28192 CNV Gain 19812545
nsv517404 CNV Gain 19592680
nsv5988 CNV Insertion 18451855
esv2659811 CNV Deletion 23128226
esv34545 CNV Gain 17911159
esv2733728 CNV Deletion 23290073

Variation tolerance for CACNB2 Gene

Residual Variation Intolerance Score: 73.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.48; 71.71% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CACNB2 Gene

HapMap Linkage Disequilibrium report
CACNB2
Human Gene Mutation Database (HGMD)
CACNB2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CACNB2 Gene

Disorders for CACNB2 Gene

MalaCards: The human disease database

(6) MalaCards diseases for CACNB2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
brugada syndrome 4
  • brgda4
brugada syndrome
  • sudden unexpected nocturnal death syndrome
lambert-eaton myasthenic syndrome
  • eaton-lambert syndrome
timothy syndrome
  • long qt syndrome with syndactyly
right bundle branch block
  • right bundle branch block with left posterior fascicular block
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CACB2_HUMAN
  • Brugada syndrome 4 (BRGDA4) [MIM:611876]: A heart disease characterized by the association of Brugada syndrome with shortened QT intervals. Brugada syndrome is a tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset. {ECO:0000269 PubMed:17224476}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CACNB2

Genetic Association Database (GAD)
CACNB2
Human Genome Epidemiology (HuGE) Navigator
CACNB2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CACNB2
genes like me logo Genes that share disorders with CACNB2: view

No data available for Genatlas for CACNB2 Gene

Publications for CACNB2 Gene

  1. Cloning and characterization of a Lambert-Eaton myasthenic syndrome antigen. (PMID: 8494331) Rosenfeld M.R. … Furneaux H.M. (Ann. Neurol. 1993) 2 3 4 23 67
  2. Use of calcium channel blockers for glaucoma. (PMID: 20933604) Araie M. … Mayama C. (Prog Retin Eye Res 2011) 25 26
  3. Role of intraarterial therapy for cerebral vasospasm secondary to aneurysmal subarachnoid hemorrhage. (PMID: 20334460) Weant K.A. … Cook A.M. (Pharmacotherapy 2010) 25 26
  4. L-type calcium channel blockers, morphine and pain: Newer insights. (PMID: 20661350) Kumar R. … Ray S.B. (Indian J Anaesth 2010) 25 26
  5. Verapamil for cluster headache. Clinical pharmacology and possible mode of action. (PMID: 19125880) Tfelt-Hansen P. … Tfelt-Hansen J. (Headache 2009) 25 26

Products for CACNB2 Gene

Sources for CACNB2 Gene

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