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The protein encoded by this gene belongs to the calcium channel beta subunit family. It plays an important role in the calcium channel by modulating G protein inhibition, increasing peak calcium current, controlling the alpha-1 subunit membrane targeting and shifting the voltage dependence of activation and inactivation. Alternative splicing occurs at this locus and three trans... See more...
Aliases for CACNB1 Gene
Aliases for CACNB1 Gene
External Ids for CACNB1 Gene
- HGNC: 1401
- Entrez Gene: 782
- Ensembl: ENSG00000067191
- OMIM: 114207
- UniProtKB: Q02641
Previous HGNC Symbols for CACNB1 Gene
- CACNLB1
Previous GeneCards Identifiers for CACNB1 Gene
- GC17M036833
- GC17M039327
- GC17M037240
- GC17M037704
- GC17M034583
- GC17M037329
- GC17M033125
Summaries for CACNB1 Gene
-
The protein encoded by this gene belongs to the calcium channel beta subunit family. It plays an important role in the calcium channel by modulating G protein inhibition, increasing peak calcium current, controlling the alpha-1 subunit membrane targeting and shifting the voltage dependence of activation and inactivation. Alternative splicing occurs at this locus and three transcript variants encoding three distinct isoforms have been identified. [provided by RefSeq, Jul 2008]
GeneCards Summary for CACNB1 Gene
CACNB1 (Calcium Voltage-Gated Channel Auxiliary Subunit Beta 1) is a Protein Coding gene. Diseases associated with CACNB1 include Malignant Hyperthermia and Headache. Among its related pathways are Succinylcholine Pathway, Pharmacokinetics/Pharmacodynamics and Integrin Pathway. Gene Ontology (GO) annotations related to this gene include voltage-gated calcium channel activity and high voltage-gated calcium channel activity. An important paralog of this gene is CACNB2.
UniProtKB/Swiss-Prot Summary for CACNB1 Gene
-
Regulatory subunit of L-type calcium channels (PubMed:1309651, PubMed:8107964, PubMed:15615847). Regulates the activity of L-type calcium channels that contain CACNA1A as pore-forming subunit (By similarity). Regulates the activity of L-type calcium channels that contain CACNA1C as pore-forming subunit and increases the presence of the channel complex at the cell membrane (PubMed:15615847). Required for functional expression L-type calcium channels that contain CACNA1D as pore-forming subunit (PubMed:1309651). Regulates the activity of L-type calcium channels that contain CACNA1B as pore-forming subunit (PubMed:8107964).
Additional gene information for CACNB1 Gene
- HGNC(1401)
- Entrez Gene(782)
- Ensembl(ENSG00000067191)
- OMIM(114207)
- UniProtKB(Q02641)
- Open Targets Platform(ENSG00000067191)
- Search for CACNB1 at DataMed
- Search for CACNB1 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CACNB1 Gene
Genomics for CACNB1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for CACNB1 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 CACNB1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CACNB1
- Top Transcription factor binding sites by QIAGEN in the CACNB1 gene promoter:
-
- AP-1
- c-Fos
- c-Myb
- LCR-F1
- MRF-2
- Nkx2-5
- POU2F1
- POU2F1a
- RFX1
Genomic Locations for CACNB1 Gene
Genomic Locations for CACNB1 Gene
- chr17:39,173,453-39,197,703
- (GRCh38/hg38)
- Size:
- 24,251 bases
- Orientation:
- Minus strand
- chr17:37,329,709-37,353,956
- (GRCh37/hg19)
- Size:
- 24,248 bases
- Orientation:
- Minus strand
Genomic View for CACNB1 Gene
Genes around CACNB1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 17q12 by HGNC
- 17q12 by Entrez Gene
- 17q12 by Ensembl
CACNB1 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 CACNB1 Gene
Proteins for CACNB1 Gene
-
Protein details for CACNB1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q02641-CACB1_HUMAN
- Recommended name:
- Voltage-dependent L-type calcium channel subunit beta-1
- Protein Accession:
- Q02641
- A8K114
- O15331
- Q02639
- Q02640
- Q8N3X9
- Q9C085
- Q9UD79
Protein attributes for CACNB1 Gene
- Size:
- 598 amino acids
- Molecular mass:
- 65714 Da
- Quaternary structure:
-
- Regulatory subunit of L-type calcium channels that consist of a pore-forming alpha subunit and auxiliary beta, gamma and delta subunits (By similarity). Interacts with CACNA1A, CACNA1B, CACNA1C and CACNA1S (By similarity). Component of a calcium channel complex consisting of a pore-forming alpha subunit (CACNA1S) and the ancillary subunits CACNB1 or CACNB2, CACNG1 and CACNA2D1. Identified in a complex with CACNA1C (PubMed:15615847). Identified in a complex with the L-type calcium channel subunits CACNA1C, CACNA2D1, CACNB1 and one of the gamma subunits (CACNG4, CACNG6, CACNG7, or CACNG8) (By similarity). Part of a L-type calcium channel complex that contains CACNA1D, CACNA2D1 and CACNB1 (PubMed:1309651). Part of a L-type calcium channel complex that contains CACNA1B, CACNA2D1 and CACNB1 (PubMed:8107964). Interacts with JSRP1. Interacts with RYR1 (By similarity). Interacts with CBARP (By similarity).
- SequenceCaution:
-
- Sequence=CAA79825.1; Type=Erroneous initiation; Evidence={ECO:0000305};
Protein Expression for CACNB1 Gene
Post-translational modifications for CACNB1 Gene
Other Protein References for CACNB1 Gene
Antibody Products
- HUABIO CACNB1 Antibody (ER1803-29)
- Novus Biologicals Antibodies for CACNB1
- Invitrogen Antibodies for CACNB1 (AFLGC-Cacnb1)
-
Biorbyt antibodies for CACNB1
-
Santa Cruz Biotechnology (SCBT) Antibodies for CACNB1
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for CACNB1
- Origene Custom Protein Services for CACNB1
- antibodies-online: Show 7 available CACNB1 Proteins ranked by validation data
- Compare Top CACNB1 Proteins
-
Quality Products:
-
Signalway Proteins for CACNB1
-
Abcam proteins for CACNB1
No data available for DME Specific Peptides for CACNB1 Gene
Domains & Families for CACNB1 Gene
Gene Families for CACNB1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- FDA approved drug targets
- Predicted intracellular proteins
Protein Domains for CACNB1 Gene
- InterPro:
- Blocks:
-
- L-type calcium channel beta subunit signature
- L-type calcium channel beta-1 subunit signature
- ProtoNet:
Suggested Antigen Peptide Sequences for CACNB1 Gene
- GenScript: Design optimal peptide antigens:
-
- Calcium channel voltage-dependent subunit beta 1 (CACB1_HUMAN)
- Voltage-gated calcium channel beta 1 subunit splice variant CavB1d (Q6TME4_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q02641- Family:
-
- Belongs to the calcium channel beta subunit family.
Function for CACNB1 Gene
Molecular function for CACNB1 Gene
- UniProtKB/Swiss-Prot Function:
- Regulatory subunit of L-type calcium channels (PubMed:1309651, PubMed:8107964, PubMed:15615847). Regulates the activity of L-type calcium channels that contain CACNA1A as pore-forming subunit (By similarity). Regulates the activity of L-type calcium channels that contain CACNA1C as pore-forming subunit and increases the presence of the channel complex at the cell membrane (PubMed:15615847). Required for functional expression L-type calcium channels that contain CACNA1D as pore-forming subunit (PubMed:1309651). Regulates the activity of L-type calcium channels that contain CACNA1B as pore-forming subunit (PubMed:8107964).
- GENATLAS Biochemistry:
- transverse tubule (TT) calcium voltage-gated channel (VDCC),L (long lasting) type,dihydropyridine (DHP) sensitive,beta 1 regulatory subunit,expressed in skeletal muscle,heart and brain isoforms,with CAG repeat
Phenotypes From GWAS Catalog for CACNB1 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,IGI | 21883149 |
| GO:0005262 | calcium channel activity | IEA | -- |
| GO:0005515 | protein binding | IEA | -- |
| GO:0008331 | high voltage-gated calcium channel activity | IBA | 21873635 |
Phenotypes for CACNB1 Gene
- MGI mutant phenotypes for CACNB1:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for CACNB1:
Animal Models for CACNB1 Gene
- MGI Knock Outs for CACNB1:
-
- Cacnb1 Cacnb1<tm1Rgg>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for CACNB1 - Select products 50% OFF >
- * CACNB1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for CACNB1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CACNB1
-
Santa Cruz Biotechnology (SCBT) CRISPR for CACNB1
miRNA for CACNB1 Gene
- miRTarBase miRNAs that target CACNB1
-
- hsa-miR-186-5p (MIRT021151)
- hsa-miR-7845-5p (MIRT487405)
- hsa-miR-6887-5p (MIRT487406)
- hsa-miR-6795-5p (MIRT487407)
- hsa-miR-625-5p (MIRT487408)
- hsa-miR-6780b-5p (MIRT487409)
- hsa-miR-4271 (MIRT487410)
- hsa-miR-4725-3p (MIRT487411)
- hsa-miR-6883-5p (MIRT487412)
- hsa-miR-6785-5p (MIRT487413)
- hsa-miR-4728-5p (MIRT487414)
- hsa-miR-149-3p (MIRT487415)
- hsa-miR-5196-5p (MIRT487416)
- hsa-miR-4747-5p (MIRT487417)
- hsa-miR-3202 (MIRT487418)
- hsa-miR-7515 (MIRT487419)
- hsa-miR-6754-5p (MIRT487420)
- hsa-miR-4270 (MIRT487421)
- hsa-miR-4441 (MIRT487422)
- hsa-miR-1324 (MIRT487423)
- hsa-miR-4524b-3p (MIRT487424)
- hsa-miR-6826-3p (MIRT716935)
- hsa-miR-7106-3p (MIRT716936)
- hsa-miR-4749-3p (MIRT716937)
- hsa-miR-1233-3p (MIRT716938)
- hsa-miR-1225-3p (MIRT716939)
- hsa-miR-4469 (MIRT716940)
- hsa-miR-6803-3p (MIRT716941)
- hsa-miR-4667-3p (MIRT716942)
- hsa-miR-1470 (MIRT716943)
- hsa-miR-6795-3p (MIRT716944)
- hsa-miR-6887-3p (MIRT716945)
- hsa-miR-6769a-3p (MIRT716946)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CACNB1
- Browse OriGene Inhibitory RNA Products For CACNB1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CACNB1
Clone Products
- Applied Biological Materials (abm): Clones for CACNB1 - Select products 50% OFF >
- * CACNB1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG207526
- MG222999
- MG223005
- MG223007
- MG223010
- MR207526
- MR207526L3
- MR207526L4
- MR222999
- MR222999L3
- MR222999L4
- MR223005
- MR223005L3
- MR223005L4
- MR223007
- MR223007L3
- MR223007L4
- MR223010
- MR223010L3
- MR223010L4
- MR230075
- MR230769
- RC207230
- RC207230L1
- RC207230L2
- RC207230L3
- RC207230L4
- RC217910
- RC217910L1
- RC217910L2
- RC217910L3
- RC217910L4
- RC220047
- RC220047L3
- RC220047L4
- RG207230
- RG217910
- RG220047
- RR207811
- RR207811L3
- RR207811L4
- MR207526L3V
- MR207526L4V
- MR222999L3V
- MR222999L4V
- MR223005L3V
- MR223005L4V
- MR223007L3V
- MR223007L4V
- MR223010L3V
- MR223010L4V
- RC207230L1V
- RC207230L2V
- RC207230L3V
- RC207230L4V
- RC217910L1V
- RC217910L2V
- RC217910L3V
- RC217910L4V
- RC220047L3V
- RC220047L4V
- RR207811L3V
- RR207811L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for CACNB1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CACNB1
Cell Line Products
-
Horizon Cell Lines for CACNB1
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CACNB1 Gene
Localization for CACNB1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for CACNB1 Gene
- Cell membrane, sarcolemma. Peripheral membrane protein. Cytoplasmic side. Cell membrane. Peripheral membrane protein.
| Compartment | Confidence |
|---|---|
| plasma membrane | 4 |
| nucleus | 2 |
| endoplasmic reticulum | 2 |
| cytosol | 2 |
| extracellular | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005886 | plasma membrane | TAS | -- |
| GO:0005891 | voltage-gated calcium channel complex | IEA,IBA | 21873635 |
| GO:0016020 | membrane | IEA | -- |
| GO:0042383 | sarcolemma | IEA | -- |
| GO:0045202 | synapse | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for CACNB1 Gene
Pathways & Interactions for CACNB1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | nNOS Signaling in Skeletal Muscle |
BMP Pathway
.44
DREAM Repression and Dynorphin Expression
.44
nNOS Signaling in Skeletal Muscle
.37
|
Caspase Cascade
.36
Calpain Protease Regulates Cellular Mechanics
.31
|
| 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
|
Pathways by source for CACNB1 Gene
2 BioSystems pathways for CACNB1 Gene
11 Reactome pathways for CACNB1 Gene
2 PharmGKB pathways for CACNB1 Gene
7 KEGG pathways for CACNB1 Gene
1 GeneGo (Thomson Reuters) pathway for CACNB1 Gene
- Transcription CREB pathway
38 Qiagen pathways for CACNB1 Gene
- Activation of cAMP-Dependent PKA
- all-trans-Retinoic Acid Signaling in Brain
- Androgen Signaling
- BMP Pathway
- Calpain Protease Regulates Cellular Mechanics
Interacting Proteins for CACNB1 Gene
Selected Interacting proteins:
Q02641-CACB1_HUMAN
ENSP00000377840
for CACNB1 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for CACNB1
| 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 | IBA | 21873635 |
| GO:0034765 | regulation of ion transmembrane transport | IEA | -- |
No data available for SIGNOR curated interactions for CACNB1 Gene
Drugs & Compounds for CACNB1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Ibutilide | Approved | Pharma | Target, activator | 8 | ||
| Ethanol | Approved | Pharma | Target | 3266 | ||
| Nimodipine | Approved, Investigational | Pharma | Activator, Potentiation, Target, inhibitor | Ca2+ channel blocker (L-type) | 42 | |
| Verapamil | Approved | Pharma | Channel blocker, Pore Blocker, Inhibitor, Inhibition, blocker | 134 | ||
| Amiodarone | Approved, Investigational | Pharma | Pore Blocker, Target, inhibitor | 138 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| O-Desmethylverapamil (D-702) |
|
|
Transcripts for CACNB1 Gene
mRNA/cDNA for CACNB1 Gene
- 3 REFSEQ mRNAs :
- 18 NCBI additional mRNA sequence :
- 12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000394303 3711 nts (view in UCSC)
- ENST00000539338 5308 nts (view in UCSC)
- ENST00000394310 1753 nts (view in UCSC)
- ENST00000344140 1889 nts (view in UCSC)
- ENST00000582544 406 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for CACNB1 - Select products 50% OFF >
- * CACNB1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for CACNB1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CACNB1
-
Santa Cruz Biotechnology (SCBT) CRISPR for CACNB1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CACNB1
- Browse OriGene Inhibitory RNA Products For CACNB1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CACNB1
Clone Products
- Applied Biological Materials (abm): Clones for CACNB1 - Select products 50% OFF >
- * CACNB1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG207526
- MG222999
- MG223005
- MG223007
- MG223010
- MR207526
- MR207526L3
- MR207526L4
- MR222999
- MR222999L3
- MR222999L4
- MR223005
- MR223005L3
- MR223005L4
- MR223007
- MR223007L3
- MR223007L4
- MR223010
- MR223010L3
- MR223010L4
- MR230075
- MR230769
- RC207230
- RC207230L1
- RC207230L2
- RC207230L3
- RC207230L4
- RC217910
- RC217910L1
- RC217910L2
- RC217910L3
- RC217910L4
- RC220047
- RC220047L3
- RC220047L4
- RG207230
- RG217910
- RG220047
- RR207811
- RR207811L3
- RR207811L4
- MR207526L3V
- MR207526L4V
- MR222999L3V
- MR222999L4V
- MR223005L3V
- MR223005L4V
- MR223007L3V
- MR223007L4V
- MR223010L3V
- MR223010L4V
- RC207230L1V
- RC207230L2V
- RC207230L3V
- RC207230L4V
- RC217910L1V
- RC217910L2V
- RC217910L3V
- RC217910L4V
- RC220047L3V
- RC220047L4V
- RR207811L3V
- RR207811L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for CACNB1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CACNB1
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | · | 3c | · | 3d | ^ | 4a | · | 4b | ^ | 5 | ^ | 6a | · | 6b | · | 6c | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17a | · | 17b | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP10: |
| ExUns: | 18a | · | 18b | ^ | 19a | · | 19b |
|---|---|---|---|---|---|---|---|
| SP1: | |||||||
| SP2: | |||||||
| SP3: | - | ||||||
| SP4: | |||||||
| SP5: | |||||||
| SP6: | - | ||||||
| SP7: | |||||||
| SP8: | |||||||
| SP9: | |||||||
| SP10: |
Relevant External Links for CACNB1 Gene
- GeneLoc Exon Structure for
- CACNB1
Expression for CACNB1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
- Skeletal Muscle (Muscoskeletal System)
mRNA differential expression in normal tissues according to GTEx for CACNB1 Gene
This gene is overexpressed in Muscle - Skeletal (x11.7).
This gene is overexpressed in Monocytes (35.8) and Frontal cortex (18.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CACNB1 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CACNB1
SOURCE GeneReport for Unigene cluster for CACNB1 Gene:
Hs.635mRNA Expression by UniProt/SwissProt for CACNB1 Gene:
Q02641-CACB1_HUMAN
Tissue specificity:
Detected in heart ventricle (at protein level) (PubMed:15615847). Isoform 1 and isoform 3 are expressed in brain, heart, spleen, central nervous system and neuroblastoma cells. Isoform 2 is expressed in skeletal muscle.
Evidence on tissue expression from TISSUES for CACNB1 Gene
- Nervous system(4.8)
- Muscle(4.7)
- Heart(4.4)
Primer Products
-
OriGene qPCR primer pairs for CACNB1
Gene Expression Assay Products
No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for CACNB1 Gene
Orthologs for CACNB1 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | CACNB1 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | CACNB1 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | CACNB1 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Cacnb1 30 17 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | CACNB1 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | CACNB1 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | CACNB1 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | CACNB1 31 |
|
OneToOne | |
| Zebrafish (Danio rerio) |
Actinopterygii | cacnb1 31 |
|
OneToOne | |
| Fruit Fly (Drosophila melanogaster) |
Insecta | Ca-&bgr; 32 |
|
|
|
| Worm (Caenorhabditis elegans) |
Secernentea | ccb-1 32 |
|
|
|
| ccb-2 31 |
|
OneToOne | |||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.9266 31 |
|
OneToOne |
- Species where no ortholog for CACNB1 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)
- Rat (Rattus norvegicus)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- 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)
- Tropical Clawed Frog (Silurana tropicalis)
- Wheat (Triticum aestivum)
Evolution for CACNB1 Gene
- ENSEMBL:
- Gene Tree for CACNB1 (if available)
- TreeFam:
- Gene Tree for CACNB1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for CACNB1: view image
Paralogs for CACNB1 Gene
Variants for CACNB1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CACNB1 Gene
| SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 780422 | Benign: not provided | 39,175,529(-) | C/T | SYNONYMOUS_VARIANT | |
| 785568 | Benign: not provided | 39,175,598(-) | G/A | SYNONYMOUS_VARIANT | |
| 808256 | Uncertain Significance: not provided | 39,184,383(-) | C/A | MISSENSE_VARIANT | |
| rs1266205915 | A colorectal cancer sample | p.Pro339Leu | |||
| rs181552596 | Likely Benign: not specified | 39,184,868(-) | G/T | INTRON_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv3893012 | CNV | loss | 25118596 |
| nsv1134647 | CNV | deletion | 24896259 |
| nsv1138536 | CNV | deletion | 24896259 |
| nsv1146669 | OTHER | inversion | 26484159 |
| nsv517435 | CNV | loss | 19592680 |
| nsv833440 | CNV | loss | 17160897 |
| nsv833441 | CNV | loss | 17160897 |
Residual Variation Intolerance Score:
16% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.24;
24.88% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for CACNB1 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- CACNB1
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CACNB1 Gene
Disorders for CACNB1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| malignant hyperthermia |
|
|
| headache |
|
|
| malignant hyperthermia susceptibility |
|
|
| multiple pterygium syndrome, escobar variant |
|
|
| arrhythmogenic right ventricular cardiomyopathy |
|
|
Search CACNB1 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for CACNB1
No data available for UniProtKB/Swiss-Prot and Genatlas for CACNB1 Gene
Publications for CACNB1 Gene
- Genetic mapping of the beta 1- and gamma-subunits of the human skeletal muscle L-type voltage-dependent calcium channel on chromosome 17q and exclusion as candidate genes for malignant hyperthermia susceptibility. (PMID: 8395940) Iles DE … Stewart AD (Human molecular genetics 1993) 2 3 4
- Structure and alternative splicing of the gene encoding the human beta1 subunit of voltage dependent calcium channels. (PMID: 10624822) Hogan K … Powers PA (Neuroscience letters 1999) 3 4
- Cyclic AMP-dependent modulation of N- and Q-type Ca2+ channels expressed in Xenopus oocytes. (PMID: 8905728) Fukuda K … Satoh M (Neuroscience letters 1996) 3 4
- Molecular cloning of three isoforms of the L-type voltage-dependent calcium channel beta subunit from normal human heart. (PMID: 7916667) Collin T … Schwartz A (Circulation research 1993) 3 4
- Assignment of the human gene for the beta subunit of the voltage-dependent calcium channel (CACNLB1) to chromosome 17 using somatic cell hybrids and linkage mapping. (PMID: 8381767) Gregg RG … Hogan K (Genomics 1993) 2 3
ExternalLinks
Products for CACNB1 Gene
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Sources for CACNB1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
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- (27) ASD
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- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
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- (44) Atlas
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- (64) Proteopedia
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- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
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- (84) COMPARTMENTS
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