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Aliases for CACNB2 Gene

Aliases for CACNB2 Gene

  • Calcium Channel, Voltage-Dependent, Beta 2 Subunit 2 3
  • 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
  • Voltage-Dependent L-Type Calcium Channel Subunit Beta-2 3
  • 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 Channel, Voltage-Dependent, Beta 2 Subunit) is a Protein Coding gene. Diseases associated with CACNB2 include brugada syndrome 4 and lambert-eaton myasthenic syndrome. Among its related pathways are MAPK signaling pathway and L1CAM interactions. 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for CACNB2 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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.
    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 for CACNB2 Gene

Gene Families for CACNB2 Gene

HGNC:
  • CACN :Calcium channel subunits

Graphical View of Domain Structure for InterPro Entry

Q08289

UniProtKB/Swiss-Prot:

CACB2_HUMAN :
  • Q08289
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:0005245 voltage-gated calcium channel activity IDA 1309651
GO:0005262 calcium channel activity NAS 9594024
GO:0005515 protein binding IPI 17525370
GO:0008331 contributes_to high voltage-gated calcium channel activity IDA 1309651
genes like me logo Genes that share ontologies with CACNB2: view
genes like me logo Genes that share phenotypes with CACNB2: view

Animal Models for CACNB2 Gene

MGI Knock Outs for CACNB2:

miRNA for CACNB2 Gene

miRTarBase miRNAs that target CACNB2

miRNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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
extracellular 5
plasma membrane 5
cytosol 2
nucleus 2

Gene Ontology (GO) - Cellular Components for CACNB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005887 integral component of plasma membrane NAS 9594024
GO:0005891 voltage-gated calcium channel complex IDA 1309651
GO:0042383 sarcolemma IEA --
genes like me logo Genes that share ontologies with CACNB2: view

Pathways for CACNB2 Gene

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

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for CACNB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport TAS 8494331
GO:0007268 synaptic transmission IBA --
GO:0007411 axon guidance TAS --
GO:0007528 neuromuscular junction development TAS 8494331
GO:0007601 visual perception IEA --
genes like me logo Genes that share ontologies with CACNB2: view

Compounds for CACNB2 Gene

(2) HMDB Compounds for CACNB2 Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2
Verapamil
  • Akilen
52-53-9

(13) Drugbank Compounds for CACNB2 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Amlodipine
  • Amlodipine Benzenesulfonate
88150-42-9 target inhibitor
Dronedarone
141626-36-0 target
Felodipine
  • Dl-Felodipine
72509-76-3 target inhibitor
Isradipine
  • (+/-)-Isradipine
75695-93-1 target inhibitor
Magnesium Sulfate
  • Bitter salt
7487-88-9 target

(1) Novoseek inferred chemical compound relationships for CACNB2 Gene

Compound -log(P) Hits PubMed IDs
calcium 37 3
genes like me logo Genes that share compounds with CACNB2: view

Transcripts for CACNB2 Gene

Unigene Clusters for CACNB2 Gene

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

miRNA Products

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for CACNB2

Flow Cytometry Products

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

Integrated Proteomics: protein expression 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 expressions with CACNB2: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues 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
chimpanzee
(Pan troglodytes)
Mammalia CACNB2 35
  • 99.65 (n)
  • 99.85 (a)
CACNB2 36
  • 100 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia CACNB2 36
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CACNB2 36
  • 84 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cacnb2 35
  • 90.56 (n)
  • 94.58 (a)
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

Selected 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 MAF
rs2400 -- 18,171,438(-) GGTTA(C/T)AGAGA intron-variant
rs729245 -- 18,452,865(-) AAGGT(A/G)TAGTC intron-variant
rs745129 -- 18,454,254(+) TGATA(C/T)CTACA intron-variant
rs747296 -- 18,452,345(+) ATTGC(A/T)TAAGC intron-variant
rs870651 -- 18,140,868(-) CGCCG(C/T)GCTCT utr-variant-5-prime, 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

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

MalaCards: The human disease database. (4) Diseases for CACNB2 Gene including...

Search for CACNB2 Gene in MalaCards »

(1) OMIM Diseases for CACNB2 Gene (600003)

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.

(3) University of Copenhagen DISEASES for CACNB2 Gene

Relevant External Links for CACNB2

Genetic Association Database (GAD)
CACNB2
Human Genome Epidemiology (HuGE) Navigator
CACNB2
genes like me logo Genes that share disorders with CACNB2: view

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
  2. Assignment of human genes for beta 2 and beta 4 subunits of voltage- dependent Ca2+ channels to chromosomes 10p12 and 2q22-q23. (PMID: 9254841) Taviaux S. … Lory P. (Hum. Genet. 1997) 2 3 4
  3. Novel functional properties of Ca(2+) channel beta subunits revealed by their expression in adult rat heart cells. (PMID: 12042350) Colecraft H.M. … Yue D.T. (J. Physiol. (Lond.) 2002) 3 4
  4. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A. … Goate A. (Am. J. Hum. Genet. 2006) 3 48
  5. Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death. (PMID: 17224476) Antzelevitch C. … Wolpert C. (Circulation 2007) 3 4

Products for CACNB2 Gene

Sources for CACNB2 Gene

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