Aliases for CACNB2 Gene
Aliases for CACNB2 Gene
External Ids for CACNB2 Gene
- HGNC: 1402
- Entrez Gene: 783
- Ensembl: ENSG00000165995
- OMIM: 600003
- UniProtKB: Q08289
Previous HGNC Symbols for CACNB2 Gene
- MYSB
- CACNLB2
Previous GeneCards Identifiers for CACNB2 Gene
- GC10P018266
- GC10P018579
- GC10P018433
- GC10P018469
Summaries 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 Fc-GammaR Pathway and Arrhythmogenic right ventricular cardiomyopathy (ARVC). 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 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.
Additional gene information for CACNB2 Gene
- Monarch Initiative
- Search for CACNB2 at DataMed
- Search for CACNB2 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CACNB2 Gene
Genomics for CACNB2 Gene
GeneHancer (GH) Regulatory Elements for CACNB2 Gene
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 | 2.2 | EPDnew FANTOM5 Ensembl ENCODE dbSUPER | 653.7 | +0.4 | 421 | 2.7 | PKNOX1 MZF1 SIN3A GLI4 ZEB1 ZNF335 GLIS2 ZNF280D SP3 ZEB2 | CACNB2 SLC39A12-AS1 ENSG00000235020 | |
| GH10J018400 | Promoter/Enhancer | 1.8 | EPDnew Ensembl ENCODE | 656.2 | +260.2 | 260225 | 1.7 | HDGF PKNOX1 SMAD1 FEZF1 BMI1 KLF5 YY1 ZNF335 GATA2 ATF7 | CACNB2 ARL5B GC10P018346 PIR33686 | |
| GH10J018340 | Promoter | 1.2 | EPDnew Ensembl | 655.4 | +200.2 | 200223 | 0.6 | SCRT1 HLF SCRT2 | CACNB2 GC10P018346 ENSG00000235020 | |
| GH10J018260 | Promoter | 0.5 | EPDnew | 650.1 | +120.0 | 120042 | 0.1 | ENSG00000235020 CACNB2 | ||
| GH10J018163 | Enhancer | 0.8 | FANTOM5 ENCODE dbSUPER | 15.1 | +23.9 | 23884 | 2.2 | FOS SP7 | CACNB2 SLC39A12-AS1 ENSG00000235020 |
- 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 UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the CACNB2 gene promoter:
-
- Lhx3a
- FOXO4
- Lmo2
- LHX3b
- HNF-4alpha1
- COUP-TF1
- COUP-TF
- COUP
Regulatory Element Products
Genomic Locations for CACNB2 Gene
Genomic Locations for CACNB2 Gene
- chr10:18,140,677-18,543,557
- (GRCh38/hg38)
- Size:
- 402,881 bases
- Orientation:
- Plus strand
- chr10:18,429,606-18,830,798
- (GRCh37/hg19)
- 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:
-
- 10p12.33-p12.31 by Entrez Gene
- 10p12 by HGNC
- 10p12.33 by Ensembl
CACNB2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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).
- SequenceCaution:
-
- Sequence=AAB51370.1; Type=Frameshift; Positions=515; Evidence={ECO:0000305};
Protein Expression for CACNB2 Gene
Post-translational modifications for CACNB2 Gene
- Regulated through phosphorylation at Thr-554 by CaMK2D.
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for CACNB2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for CACNB2
-
Abcam antibodies for CACNB2
- Invitrogen Antibodies for CACNB2
- GeneTex Cacnb2 Antibody for CACNB2
-
Santa Cruz Biotechnology (SCBT) Antibodies for CACNB2
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for CACNB2
- Origene Custom Protein Services for CACNB2
- Search GeneTex for Proteins for CACNB2
-
Abcam proteins for CACNB2
Assay Products
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
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- Family:
-
- Belongs to the calcium channel beta subunit family.
Function for CACNB2 Gene
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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005245 | voltage-gated calcium channel activity | IDA,IEA | 1309651 |
| GO:0005262 | calcium channel activity | NAS | 9594024 |
| GO:0005515 | protein binding | IEA,IPI | 17525370 |
| GO:0008331 | contributes_to high voltage-gated calcium channel activity | IDA | 1309651 |
| GO:0051015 | actin filament binding | ISS | 25533460 |
Phenotypes for CACNB2 Gene
- MGI mutant phenotypes for CACNB2:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for CACNB2:
Animal Models for CACNB2 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for CACNB2
-
CRISPR Products
-
OriGene CRISPR knockouts for CACNB2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CACNB2
- genomics-online: gRNA clones - Search results for available CACNB2 gene related products
- Applied Biological Materials CRISPR for CACNB2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for CACNB2
- GenScript: Design CRISPR guide RNA sequences for CACNB2
miRNA for CACNB2 Gene
- miRTarBase miRNAs that target CACNB2
-
- hsa-mir-26b-5p (MIRT029034)
- hsa-mir-16-5p (MIRT051063)
- hsa-mir-640 (MIRT628380)
- hsa-mir-203b-3p (MIRT628381)
- hsa-mir-7158-3p (MIRT628382)
- hsa-mir-378a-5p (MIRT628383)
- hsa-mir-6821-3p (MIRT628384)
- hsa-mir-6790-3p (MIRT628385)
- hsa-mir-4680-5p (MIRT628386)
- hsa-mir-4635 (MIRT628387)
- hsa-mir-3653-5p (MIRT628388)
- hsa-mir-5193 (MIRT628389)
- hsa-mir-4667-3p (MIRT628390)
- hsa-mir-3934-5p (MIRT628391)
- hsa-mir-764 (MIRT628392)
- hsa-mir-125a-3p (MIRT628393)
- hsa-mir-6865-3p (MIRT628394)
- hsa-mir-4260 (MIRT716899)
- hsa-mir-5572 (MIRT716900)
- hsa-mir-450a-2-3p (MIRT716901)
- hsa-mir-6857-5p (MIRT716902)
- hsa-mir-6763-5p (MIRT716903)
- hsa-mir-3150a-3p (MIRT716904)
- hsa-mir-6810-5p (MIRT716905)
- hsa-mir-2110 (MIRT716906)
- hsa-mir-19b-2-5p (MIRT716907)
- hsa-mir-19b-1-5p (MIRT716908)
- hsa-mir-19a-5p (MIRT716909)
- hsa-mir-4450 (MIRT716910)
- hsa-mir-2052 (MIRT716911)
- hsa-mir-186-3p (MIRT716912)
- hsa-mir-8087 (MIRT716913)
- hsa-mir-7161-5p (MIRT716914)
- hsa-mir-548u (MIRT716916)
- hsa-mir-208a-3p (MIRT732877)
- hsa-mir-208b-3p (MIRT732878)
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for CACNB2
- Browse OriGene Inhibitory RNA Products For CACNB2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CACNB2
- genomics-online: shRNA clones - Search results for available CACNB2 gene related products
Clone Products
-
OriGene ORF clones in human for CACNB2
- RC216641L1V
- RC216641L2V
- RC230323L1V
- RC230323L2V
- RC214309L1V
- RC214309L2V
- RC211669L1V
- RC211669L2V
- RC211727L1V
- RC211727L2V
- RC211555L1V
- RC211555L2V
- RC211619L1V
- RC211619L2V
- RC211493L1V
- RC211493L2V
- RC214019L1V
- RC214019L2V
- RC216641
- RC216641L1
- RC216641L2
- RG216641
- RC230323
- RC230323L1
- RC230323L2
- RG230323
- RC214309
- RC214309L1
- RC214309L2
- RG214309
- RC211669
- RC211669L1
- RC211669L2
- RG211669
- RC211727
- RC211727L1
- RC211727L2
- RG211727
- RC211555
- RC211555L1
- RC211555L2
- RG211555
- RC211619
- RC211619L1
- RC211619L2
- RG211619
- RC211493
- RC211493L1
- RC211493L2
- RG211493
- RC214019
- RC214019L1
- RC214019L2
- RG214019
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for CACNB2
- VectorBuilder custom plasmid, inducible vectors for CACNB2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CACNB2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for CACNB2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CACNB2
- genomics-online: cdna clones - Search results for available CACNB2 gene related products
- orf clones - Search results for available CACNB2 gene related products
- Applied Biological Materials Clones for CACNB2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for CACNB2
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.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| nucleus | 3 |
| cytosol | 3 |
| 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 | IDA,IEA | 17224476 |
| GO:0016020 | membrane | IEA | -- |
| GO:0042383 | sarcolemma | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for CACNB2 Gene
Pathways & Interactions for CACNB2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | BMP Pathway |
.44
|
.36
|
| 2 | TCR Signaling (Qiagen) |
.68
|
.39
|
| 3 | Arrhythmogenic right ventricular cardiomyopathy (ARVC) | ||
| 4 | Activation of cAMP-Dependent PKA |
.77
|
.56
|
| 5 | CCR5 Pathway in Macrophages | ||
Pathways by source for CACNB2 Gene
1 BioSystems pathway for CACNB2 Gene
15 Reactome pathways for CACNB2 Gene
2 PharmGKB pathways for CACNB2 Gene
7 KEGG pathways for CACNB2 Gene
1 GeneGo (Thomson Reuters) pathway for CACNB2 Gene
38 Qiagen pathways for CACNB2 Gene
Interacting Proteins for CACNB2 Gene
Selected Interacting proteins:
Q08289-CACB2_HUMAN
ENSP00000320025
for CACNB2 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for CACNB2
| 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 | -- |
| GO:0007528 | neuromuscular junction development | TAS | 8494331 |
| GO:0007601 | visual perception | IEA | -- |
Drugs & Compounds for CACNB2 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Nilvadipine | Approved, Investigational | Pharma | Target, inhibitor | Syk kinase inhibitor; inhibits Abeta production | 1 | |
| Felodipine | Approved, Investigational | Pharma | Potentiation, Activator, blocker, Target, inhibitor | 22 | ||
| Verapamil | Approved | Pharma | Channel blocker, Pore Blocker, Inhibition, Inhibitor, blocker, Target, inhibitor | 135 | ||
| Isradipine | Approved, Investigational | Pharma | Gating inhibitor, Target, inhibitor | 13 | ||
| Nicardipine | Approved, Investigational | Pharma | Antagonist, Target, inhibitor | 33 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| O-Desmethylverapamil (D-702) |
|
|
Drug Products
Transcripts for CACNB2 Gene
mRNA/cDNA for CACNB2 Gene
- (15) REFSEQ mRNAs :
- (29) Additional mRNA sequences :
- (7) Selected AceView cDNA sequences:
- (21) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000324631 5876 bps (uc001ipr.3)
- ENST00000352115 1911 bps (uc001ips.3)
- ENST00000377328 1233 bps (uc009xjz.2)
- ENST00000468177 497 bps (uc057sbx.1)
- ENST00000467034 459 bps (uc057sby.1)
Unigene Clusters for CACNB2 Gene
CRISPR Products
-
OriGene CRISPR knockouts for CACNB2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CACNB2
- genomics-online: gRNA clones - Search results for available CACNB2 gene related products
- Applied Biological Materials CRISPR for CACNB2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for CACNB2
- GenScript: Design CRISPR guide RNA sequences for CACNB2
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for CACNB2
- Browse OriGene Inhibitory RNA Products For CACNB2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CACNB2
- genomics-online: shRNA clones - Search results for available CACNB2 gene related products
Clone Products
-
OriGene ORF clones in human for CACNB2
- RC216641L1V
- RC216641L2V
- RC230323L1V
- RC230323L2V
- RC214309L1V
- RC214309L2V
- RC211669L1V
- RC211669L2V
- RC211727L1V
- RC211727L2V
- RC211555L1V
- RC211555L2V
- RC211619L1V
- RC211619L2V
- RC211493L1V
- RC211493L2V
- RC214019L1V
- RC214019L2V
- RC216641
- RC216641L1
- RC216641L2
- RG216641
- RC230323
- RC230323L1
- RC230323L2
- RG230323
- RC214309
- RC214309L1
- RC214309L2
- RG214309
- RC211669
- RC211669L1
- RC211669L2
- RG211669
- RC211727
- RC211727L1
- RC211727L2
- RG211727
- RC211555
- RC211555L1
- RC211555L2
- RG211555
- RC211619
- RC211619L1
- RC211619L2
- RG211619
- RC211493
- RC211493L1
- RC211493L2
- RG211493
- RC214019
- RC214019L1
- RC214019L2
- RG214019
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for CACNB2
- VectorBuilder custom plasmid, inducible vectors for CACNB2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CACNB2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for CACNB2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CACNB2
- genomics-online: cdna clones - Search results for available CACNB2 gene related products
- orf clones - Search results for available CACNB2 gene related products
- Applied Biological Materials Clones for CACNB2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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: |
Expression for CACNB2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Eye (Sensory Organs)
- Mature Rod Cells Outer Nuclear Layer
-
Neurons
- Mature Rod Cells Outer Nuclear Layer
-
Adipose (Muscoskeletal System)
- Mesenchymal Stem Cells Subcutaneous White Adipose
-
Mesenchymal Stem Cells
- Mesenchymal Stem Cells Subcutaneous White Adipose
-
Blood (Hematopoietic System)
- Hematopoietic Stem Cells Hematopoietic Bone Marrow
- Epiblast (Early Embryonic Tissues)
-
Lung (Respiratory System)
-
Heart (Cardiovascular System)
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
NURSA nuclear receptor signaling pathways regulating expression of CACNB2 Gene:
CACNB2SOURCE GeneReport for Unigene cluster for CACNB2 Gene:
Hs.59093mRNA 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(4.7)
- Heart(4.4)
- Intestine(4.2)
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
Primer Products
-
OriGene qPCR primer pairs for CACNB2
- genomics-online: primer clones - Search results for available CACNB2 gene related products
Gene Expression 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | CACNB2 34 33 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | CACNB2 34 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | CACNB2 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Cacnb2 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Cacnb2 33 |
|
||
| cow (Bos Taurus) |
Mammalia | CACNB2 34 33 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | CACNB2 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | CACNB2 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | CACNB2 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | cacnb2 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | cacnb2a 34 33 |
|
OneToOne | |
| fruit fly (Drosophila melanogaster) |
Insecta | Ca-&bgr; 35 |
|
|
|
| worm (Caenorhabditis elegans) |
Secernentea | ccb-1 35 |
|
|
|
| sea squirt (Ciona savignyi) |
Ascidiacea | Cin.4137 33 |
|
||
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.4137 33 |
|
- Species where no ortholog for CACNB2 was found in the sources mined by GeneCards:
-
- 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)
- Aminode:
- Evolutionary constrained regions (ECRs) for CACNB2: view image
Paralogs for CACNB2 Gene
Variants for CACNB2 Gene
| SNP ID | Clin | Chr 10 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1012448367 | uncertain-significance, Brugada syndrome | 18,540,319(+) | C/A | 3_prime_UTR_variant, non_coding_transcript_variant | |
| rs1027091807 | uncertain-significance, Brugada syndrome | 18,541,343(+) | T/C | 3_prime_UTR_variant, non_coding_transcript_variant | |
| rs1039406883 | uncertain-significance, Brugada syndrome 4 | 18,539,273(+) | G/A | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
| rs1060503435 | uncertain-significance, Brugada syndrome 4 | 18,498,424(+) | G/T | 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant | |
| rs1060504914 | likely-benign, Brugada syndrome 4 | 18,539,538(+) | C/T | coding_sequence_variant, non_coding_transcript_variant, synonymous_variant |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CACNB2 Gene
Disorders for CACNB2 Gene
(8) MalaCards diseases for CACNB2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| brugada syndrome 4 |
|
|
| brugada syndrome |
|
|
| lambert-eaton myasthenic syndrome |
|
|
| early repolarization associated with ventricular fibrillation |
|
|
| short qt syndrome |
|
|
Search CACNB2 in MalaCards
View complete list of genes associated with diseases
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.
Additional Disease Information for CACNB2
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for CACNB2 Gene
Publications for CACNB2 Gene
- Cloning and characterization of a Lambert-Eaton myasthenic syndrome antigen. (PMID: 8494331) Rosenfeld MR … Furneaux HM (Annals of neurology 1993) 2 3 4 22 58
- 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 58
- 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 44 58
- Human variation in alcohol response is influenced by variation in neuronal signaling genes. (PMID: 20201926) Joslyn G … White RL (Alcoholism, clinical and experimental research 2010) 3 44 58
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
Products for CACNB2 Gene
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- RC211493
- RC211493L1
- RC211493L2
- RG211493
- RC214019
- RC214019L1
- RC214019L2
- RG214019
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- Sino Biological Human cDNA Clone for CACNB2
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- High-throughput Antibody Production Service
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- Epitope Tag Antibodies & Reporter Protein Antibodies
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- Novus Biologicals Antibodies for CACNB2
- Novus Biologicals proteins and lysates for CACNB2
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
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- Abcam antibodies for CACNB2
- Abcam proteins for CACNB2
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- VectorBuilder custom plasmid, inducible vectors for CACNB2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CACNB2
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for CACNB2
- antibodies-online: Search results for 155 available CACNB2 Antibodies ranked by validation data
- Compare Top CACNB2 Antibodies
- antibodies-online: Search results for available CACNB2 related products ranked by validation data
- antibodies-online: Search results for 6 available CACNB2 Proteins ranked by validation data
- Compare Top CACNB2 Proteins
- GeneTex Cacnb2 Antibody for CACNB2
- Search GeneTex for Proteins for CACNB2
- Santa Cruz Biotechnology (SCBT) Antibodies for CACNB2
- Search Santa Cruz Biotechnology (SCBT) for CACNB2 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for CACNB2
- Horizon Cell Lines for CACNB2
- genomics-online: cdna clones - Search results for available CACNB2 gene related products
- orf clones - Search results for available CACNB2 gene related products
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- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CACNB2
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- GeneCopoeia miRNA 3'UTR Target clone products for CACNB2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CACNB2
Sources for CACNB2 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems
- (159) GlyConnect
- (160) Aminode
- (161) GeneCopoeia
- (162) GPS-Prot
- (163) RNACentral
- (164) LncRNADisease
- (165) LOVD
- (166) miR2Disease
- (167) DiseaseEnhancer
- (168) Boster Bio
- (169) Biorbyt