CACNB2 Gene (Protein Coding)

Calcium Voltage-Gated Channel Auxiliary Subunit Beta 2

GC10P018165
GIFtS:
47
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 i... See more...

Aliases for CACNB2 Gene

Aliases for CACNB2 Gene

  • Calcium Voltage-Gated Channel Auxiliary Subunit Beta 2 2 3 5
  • Voltage-Dependent L-Type Calcium Channel Subunit Beta-2 3 4
  • 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
  • CAB2 3 4
  • MYSB 3 4
  • Myasthenic (Lambert-Eaton) Syndrome Antigen B 3
  • CACNB2 5
  • 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 Presenilin-Mediated Signaling and Cardiac conduction. Gene Ontology (GO) annotations related to this gene include calcium channel activity and high voltage-gated calcium channel activity. An important paralog of this gene is CACNB1.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for CACNB2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CACNB2 Gene

Genomics for CACNB2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for CACNB2 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH10J018139 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 253.6 +0.6 577 3.2 ZNF600 POLR2A ZIC2 ZNF341 ZEB1 SIN3A KLF9 SP2 GLI4 ZBTB48 CACNB2 HSALNG0076484 HSALNG0076485 SLC39A12-AS1 piR-41306-026 NSUN6
GH10J018400 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 256.2 +260.4 260449 1.7 YY1 ZNF592 SIN3A TRIM22 FEZF1 ZNF341 NR2C1 SMARCA5 BHLHE40 ELF1 CACNB2 ARL5B piR-34822-037 piR-43107-032 NSUN6
GH10J018340 Promoter/Enhancer 1.1 EPDnew Ensembl CraniofacialAtlas 259.8 +201.0 201012 2.3 SCRT1 HLF SCRT2 CACNB2 HSALNG0076492 KR153241-001 NSUN6
GH10J018260 Promoter 0.3 EPDnew 250.1 +120.3 120295 0.1 ENSG00000235020 HSALNG0076491 LOC107984213 CACNB2 HSALNG0076490 NSUN6
GH10J018163 Enhancer 1 FANTOM5 Ensembl ENCODE dbSUPER 15.1 +24.1 24137 2.2 MAFK SP7 FOS CEBPB CACNB2 SLC39A12-AS1 HSALNG0076487 piR-41306-026 HSALNG0076486 NSUN6
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CACNB2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CACNB2

Top Transcription factor binding sites by QIAGEN in the CACNB2 gene promoter:
  • COUP
  • COUP-TF
  • COUP-TF1
  • FOXO4
  • HNF-4alpha1
  • Lhx3a
  • LHX3b
  • Lmo2

Genomic Locations for CACNB2 Gene

Latest Assembly
chr10:18,140,424-18,545,881
(GRCh38/hg38)
Size:
405,458 bases
Orientation:
Plus strand

Previous Assembly
chr10:18,429,353-18,832,486
(GRCh37/hg19 by Entrez Gene)
Size:
403,134 bases
Orientation:
Plus strand

chr10:18,429,606-18,830,798
(GRCh37/hg19 by Ensembl)
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 Structure • Gene Density

RefSeq DNA sequence for CACNB2 Gene

Proteins for CACNB2 Gene

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  • 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:
    • Component of a calcium channel complex consisting of a pore-forming alpha subunit (CACNA1S) and the ancillary subunits CACNB1 or CACNB2, CACNG1 and CACNA2D1. The channel complex contains alpha, beta, gamma and delta subunits in a 1:1:1:1 ratio, i.e. it contains either CACNB1 or CACNB2. Interacts with CACNA1C (By similarity). Interacts with RRAD. Interaction with RRAD regulates the trafficking of CACNA1C to the cell membrane (PubMed:17525370). Interacts with TMIGD2 (PubMed:22419821). Interacts with CAMK2D. Interacts with CBARP (By similarity). Interacts with CAMK2A (PubMed:28130356).
    SequenceCaution:
    • Sequence=AAB51370.1; Type=Frameshift; Evidence={ECO:0000305};

    Alternative splice isoforms for CACNB2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CACNB2 Gene

Protein Expression for CACNB2 Gene

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

Post-translational modifications for CACNB2 Gene

Other Protein References for CACNB2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Abcam antibodies for CACNB2

No data available for DME Specific Peptides for CACNB2 Gene

Domains & Families for CACNB2 Gene

Gene Families for CACNB2 Gene

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

Protein Domains for CACNB2 Gene

InterPro:
Blocks:
  • L-type calcium channel beta subunit signature
  • L-type calcium channel beta-2 subunit signature

Suggested Antigen Peptide Sequences for CACNB2 Gene

GenScript: Design optimal peptide antigens:
  • Lambert-Eaton myasthenic syndrome antigen B (CACB2_HUMAN)
  • Voltage-gated calcium channel beta 2 subunit splice variant CavB2aN4 (Q5QJ99_HUMAN)
  • Voltage-gated calcium channel beta 2 subunit splice variant CavB2aN2 (Q5QJA0_HUMAN)
  • cDNA FLJ50648, highly similar to Voltage-dependent L-type calcium channel subunit beta-2 (Q5VVH1_HUMAN)
  • Voltage-gated calcium channel beta 2 subunit splice variant CavB2dN4 (Q6TME0_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q08289

UniProtKB/Swiss-Prot:

CACB2_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 CACNB2: view

Function for CACNB2 Gene

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Molecular function for CACNB2 Gene

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

Phenotypes From GWAS Catalog for CACNB2 Gene

Gene Ontology (GO) - Molecular Function for CACNB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005244 voltage-gated ion channel activity IEA --
GO:0005245 voltage-gated calcium channel activity IEA,IDA 1309651
GO:0005262 calcium channel activity IEA,NAS 9594024
GO:0005515 protein binding IEA,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

Human Phenotype Ontology for CACNB2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CACNB2 Gene

MGI Knock Outs for CACNB2:

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CACNB2

Clone products for research

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
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 CACNB2 gene
Compartment Confidence
plasma membrane 5
nucleus 3
cytosol 3
endoplasmic reticulum 2
extracellular 1
cytoskeleton 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for CACNB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane NAS 9594024
GO:0005891 voltage-gated calcium channel complex IEA,IDA 17224476
GO:0016020 membrane IEA --
GO:0042383 sarcolemma IEA --
genes like me logo Genes that share ontologies with CACNB2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CACNB2 Gene

Pathways & Interactions for CACNB2 Gene

PathCards logo

SuperPathways for CACNB2 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 CACNB2: view

Pathways by source for CACNB2 Gene

1 BioSystems pathway for CACNB2 Gene
1 GeneGo (Thomson Reuters) pathway for CACNB2 Gene
  • Transcription CREB pathway
38 Qiagen pathways for CACNB2 Gene
  • Activation of cAMP-Dependent PKA
  • all-trans-Retinoic Acid Signaling in Brain
  • Androgen Signaling
  • BMP Pathway
  • Calpain Protease Regulates Cellular Mechanics

SIGNOR curated interactions for CACNB2 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for CACNB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006816 calcium ion transport IEA --
GO:0007268 chemical synaptic transmission IBA 21873635
GO:0007528 neuromuscular junction development TAS,IBA 21873635
GO:0007601 visual perception IEA --
genes like me logo Genes that share ontologies with CACNB2: view

Drugs & Compounds for CACNB2 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Felodipine Approved, Investigational Pharma Target, inhibitor, blocker 24
Nilvadipine Approved, Investigational Pharma Target, inhibitor Syk kinase inhibitor; inhibits Abeta production 1
Isradipine Approved, Investigational Pharma Target, inhibitor 15
Nicardipine Approved, Investigational Pharma Target, inhibitor 44
Nifedipine Approved Pharma Target, inhibitor 152

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
O-Desmethylverapamil (D-702)

(1) ApexBio Compounds for CACNB2 Gene

Compound Action Cas Number
Nilvadipine 75530-68-6
genes like me logo Genes that share compounds with CACNB2: view

Drug products for research

Transcripts for CACNB2 Gene

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mRNA/cDNA for CACNB2 Gene

10 REFSEQ mRNAs :
40 NCBI additional mRNA sequence :
28 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 CACNB2

Clone products for research

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

Expression for CACNB2 Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CACNB2 Gene

mRNA expression in normal human tissues for CACNB2 Gene
mRNA expression by GTEx for CACNB2 GenemRNA expression by BioGPS 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, MaxQB, and MOPED for CACNB2 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CACNB2

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.

Evidence on tissue expression from TISSUES for CACNB2 Gene

  • Nervous system(4.8)
  • Heart(4.5)
  • Intestine(4.3)
  • Muscle(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CACNB2 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • nervous
Regions:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • heart
  • heart valve
General:
  • blood
  • blood vessel
  • red blood cell
genes like me logo Genes that share expression patterns with CACNB2: view

Primer products for research

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
Chimpanzee
(Pan troglodytes)
 Mammalia CACNB2 29 30
  • 99.65 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia CACNB2 30
  • 93 (a)
 OneToOne
Dog
(Canis familiaris)
 Mammalia CACNB2 29 30
  • 92.67 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Cacnb2 29 16 30
  • 90.57 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Cacnb2 29
  • 90.56 (n)
Cow
(Bos Taurus)
 Mammalia CACNB2 29 30
  • 90.06 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia CACNB2 30
  • 84 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves CACNB2 29 30
  • 84.42 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia CACNB2 30
  • 89 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia cacnb2 29
  • 77.93 (n)
Zebrafish
(Danio rerio)
 Actinopterygii cacnb2a 29 30
  • 68.31 (n)
 OneToOne
Fruit Fly
(Drosophila melanogaster)
 Insecta Ca-&bgr; 31
  • 65 (a)
Worm
(Caenorhabditis elegans)
 Secernentea ccb-1 31
  • 63 (a)
Sea Vase
(Ciona intestinalis)
 Ascidiacea Cin.4137 29
Species where no ortholog for CACNB2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 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 CACNB2 Gene

ENSEMBL:
Gene Tree for CACNB2 (if available)
TreeFam:
Gene Tree for CACNB2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CACNB2: view image
Alliance of Genome Resources:
Additional Orthologs for CACNB2

Paralogs for CACNB2 Gene

Paralogs for CACNB2 Gene

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

  • CACB2_HUMAN
  • A6PVM6_HUMAN
  • Q6TME0_HUMAN
genes like me logo Genes that share paralogs with CACNB2: view

Variants for CACNB2 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CACNB2 Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
1001169 Uncertain Significance: Brugada syndrome 4 18,539,644(+) T/C
NM_201596.3(CACNB2):c.1903T>C (p.Cys635Arg) 		MISSENSE
1003412 Uncertain Significance: Brugada syndrome 4 18,534,111(+) C/T
NM_201596.3(CACNB2):c.1090C>T (p.Leu364Phe) 		MISSENSE
1006413 Uncertain Significance: Brugada syndrome 4 18,538,240(+) G/A
NM_201596.3(CACNB2):c.1363G>A (p.Asp455Asn) 		MISSENSE
1006979 Uncertain Significance: Brugada syndrome 4 18,340,984(+) A/G
NM_201596.3(CACNB2):c.214-60940A>G 		INTRON
1007826 Uncertain Significance: Brugada syndrome 4 18,539,560(+) C/CACCGTTCCCGGG
NM_201596.3(CACNB2):c.1822_1833dup (p.Arg608_Asp611dup) 		INFRAME_INSERTION

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CACNB2 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 CACNB2 Gene

Variant ID Type Subtype PubMed ID
dgv13n6 CNV deletion 16902084
dgv190e212 CNV gain 25503493
dgv369n106 CNV deletion 24896259
esv1001661 CNV deletion 20482838
esv1588507 CNV deletion 17803354
esv2656979 CNV deletion 23128226
esv2659811 CNV deletion 23128226
esv2662374 CNV deletion 23128226
esv2675755 CNV deletion 23128226
esv2677936 CNV deletion 23128226
esv2733695 CNV deletion 23290073
esv2733706 CNV deletion 23290073
esv2733717 CNV deletion 23290073
esv2733728 CNV deletion 23290073
esv2760102 CNV gain 21179565
esv28192 CNV gain 19812545
esv29251 CNV loss 19812545
esv29421 CNV loss 19812545
esv3264162 CNV deletion 24192839
esv3302606 CNV tandem duplication 20981092
esv3401361 CNV duplication 20981092
esv34545 CNV gain 17911159
esv3545976 CNV deletion 23714750
esv3578702 CNV loss 25503493
esv3622503 CNV loss 21293372
esv3622504 CNV loss 21293372
esv3622505 CNV loss 21293372
esv3622506 CNV loss 21293372
esv3622507 CNV gain 21293372
esv3622508 CNV loss 21293372
esv4994 CNV loss 18987735
nsv1039174 CNV loss 25217958
nsv1042073 CNV gain 25217958
nsv1046458 CNV gain 25217958
nsv1053675 CNV loss 25217958
nsv1054616 CNV loss 25217958
nsv1069459 CNV deletion 25765185
nsv1074270 CNV deletion 25765185
nsv1129353 OTHER inversion 24896259
nsv517404 CNV gain 19592680
nsv522505 CNV loss 19592680
nsv550041 CNV loss 21841781
nsv550042 CNV gain 21841781
nsv5977 CNV insertion 18451855
nsv5988 CNV insertion 18451855
nsv825262 CNV loss 20364138
nsv956338 CNV deletion 24416366

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)

Additional Variant Information for CACNB2 Gene

Human Gene Mutation Database (HGMD)
CACNB2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CACNB2
Leiden Open Variation Database (LOVD)
CACNB2

SNP Genotyping and Copy Number Assays for research

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

Disorders for CACNB2 Gene

MalaCards: The human disease database

(26) MalaCards diseases for CACNB2 Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

Disorder Aliases PubMed IDs
brugada syndrome 4
  • brgda4
brugada syndrome
  • bangungut
lambert-eaton myasthenic syndrome
  • eaton-lambert syndrome
early repolarization associated with ventricular fibrillation
  • early repolarization syndrome
short qt syndrome
  • sqts
- 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 gene represented in this entry may be involved in disease pathogenesis.

Additional Disease Information for CACNB2

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Publications for CACNB2 Gene

  1. Cloning and characterization of a Lambert-Eaton myasthenic syndrome antigen. (PMID: 8494331) Rosenfeld MR … Furneaux HM (Annals of neurology 1993) 2 3 4 22
  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 (Human genetics 1997) 2 3 4
  3. A Novel Human CAMK2A Mutation Disrupts Dendritic Morphology and Synaptic Transmission, and Causes ASD-Related Behaviors. (PMID: 28130356) Stephenson JR … Colbran RJ (The Journal of neuroscience : the official journal of the Society for Neuroscience 2017) 3 4
  4. Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. (PMID: 21909110) Wain LV … van Duijn CM (Nature genetics 2011) 3 40
  5. An approach based on a genome-wide association study reveals candidate loci for narcolepsy. (PMID: 20677014) Shimada M … Tokunaga K (Human genetics 2010) 3 40

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