Aliases for CACNB1 Gene
Aliases for CACNB1 Gene
- Calcium Voltage-Gated Channel Auxiliary Subunit Beta 1 2 3 5
- Calcium Channel, Voltage-Dependent, Beta 1 Subunit 2 3
- Calcium Channel Voltage-Dependent Subunit Beta 1 3 4
- CACNLB1 3 4
- CAB1 3 4
- Dihydropyridine-Sensitive L-Type, Calcium Channel Beta-1 Subunit 3
- Voltage-Dependent L-Type Calcium Channel Subunit Beta-1 3
- Calcium Channel, L Type, Beta 1 Polypeptide 3
- CCHLB1 3
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 Malignant Hyperthermia Susceptibility. Among its related pathways are Cardiac conduction and NFAT and Cardiac Hypertrophy. 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 for CACNB1 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 CACNB1 Gene
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CACNB1 Gene
Genomics for CACNB1 Gene
GeneHancer (GH) Regulatory Elements for CACNB1 Gene
Promoters and enhancers for CACNB1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around CACNB1 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for CACNB1 Gene
Genomic Locations for CACNB1 Gene
- chr17:39,173,456-39,197,703
- (GRCh38/hg38)
- Size:
- 24,248 bases
- Orientation:
- Minus strand
- chr17:37,329,709-37,353,956
- (GRCh37/hg19)
Genomic View for CACNB1 Gene
Genes around CACNB1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 17q12 by Ensembl
- 17q12 by Entrez Gene
- 17q12 by HGNC
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:
-
- The L-type calcium channel is composed of four subunits: alpha-1, alpha-2, beta and gamma. Interacts with JSRP1. Interacts with RYR1. 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
-
Custom Antibody ServicesOriGene Antibodies for CACNB1
- Novus Biologicals Antibodies for CACNB1
-
Abcam antibodies for CACNB1
- Invitrogen Antibodies for CACNB1
- GeneTex CACNB1 antibody 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: Search results for 7 available CACNB1 Proteins ranked by validation data
- Compare Top CACNB1 Proteins
-
Quality Products:
- Search GeneTex for Proteins for CACNB1
-
Abcam proteins for CACNB1
Assay Products
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
Suggested Antigen Peptide Sequences for CACNB1 Gene
- GenScript: Design optimal peptide antigens:
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
- 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
- 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.
Phenotypes From GWAS Catalog for CACNB1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005245 | voltage-gated calcium channel activity | IGI,IEA | 21883149 |
| GO:0005262 | calcium channel activity | IEA | -- |
| GO:0008331 | high voltage-gated calcium channel activity | IBA | -- |
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 tm1Rgg
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for CACNB1
-
-
ViGene Biosciences lentiviral particle packaged cDNA for CACNB1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for CACNB1 gene
- Search ViGene Biosciences for CACNB1
CRISPR Products
-
OriGene CRISPR knockouts for CACNB1
- genomics-online: gRNA clones - Search results for 130 available CACNB1 gene related products
- Overview of 130 available CACNB1 gene related products
-
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-
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- GenScript: Design CRISPR guide RNA sequences 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
- Search ViGene Biosciences for CACNB1
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CACNB1
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- Overview of 130 available CACNB1 gene related products
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Clone Products
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OriGene ORF clones in human for CACNB1
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-
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
- genomics-online: cdna clones - Search results for 130 available CACNB1 gene related products
- Overview of 130 available CACNB1 gene related products
-
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- Overview of 130 available CACNB1 gene related products
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-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for CACNB1
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-
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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.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| nucleus | 2 |
| cytosol | 2 |
| endoplasmic reticulum | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005886 | plasma membrane | TAS | -- |
| GO:0005891 | voltage-gated calcium channel complex | IEA,IBA | -- |
| GO:0016020 | membrane | IEA | -- |
| GO:0042383 | sarcolemma | 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 | DREAM Repression and Dynorphin Expression |
.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 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
38 Qiagen pathways for CACNB1 Gene
Interacting Proteins for CACNB1 Gene
Selected Interacting proteins:
Q02641-CACB1_HUMAN
ENSP00000377840
for CACNB1 Gene via
MINT
STRING
UniProtKB
IID
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006810 | transport | TAS | 1385409 |
| GO:0006811 | ion transport | IEA | -- |
| GO:0006816 | calcium ion transport | IEA | -- |
| GO:0007268 | chemical synaptic transmission | IBA | -- |
| GO:0007528 | neuromuscular junction development | IBA | -- |
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 | 6 | ||
| Verapamil | Approved | Pharma | Channel blocker, Target, inhibitor, blocker | 135 | ||
| Ethanol | Approved | Pharma | Target | 2326 | ||
| Magnesium Sulfate | Approved, Investigational, Vet_approved | Pharma | Target | 214 | ||
| Nimodipine | Approved, Investigational | Pharma | Potentiation, Activator, Target, inhibitor | 27 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| O-Desmethylverapamil (D-702) |
|
|
Transcripts for CACNB1 Gene
mRNA/cDNA for CACNB1 Gene
- (13) REFSEQ mRNAs :
- (13) Additional mRNA sequences :
- (88) Selected AceView cDNA sequences:
- (12) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for CACNB1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for CACNB1
- genomics-online: gRNA clones - Search results for 130 available CACNB1 gene related products
- Overview of 130 available CACNB1 gene related products
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Recommended
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-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for CACNB1
- GenScript: Design CRISPR guide RNA sequences for CACNB1
miRNA Products
- Search ViGene Biosciences for CACNB1
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CACNB1
- Browse OriGene Inhibitory RNA Products For CACNB1
- genomics-online: shRNA clones - Search results for 130 available CACNB1 gene related products
- Overview of 130 available CACNB1 gene related products
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Recommended
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Clone Products
-
OriGene ORF clones in human for CACNB1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- VectorBuilder custom plasmid, inducible vectors for CACNB1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CACNB1
-
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
- genomics-online: cdna clones - Search results for 130 available CACNB1 gene related products
- Overview of 130 available CACNB1 gene related products
-
Recommended
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- Overview of 130 available CACNB1 gene related products
-
Recommended
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-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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: |
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, PaxDb, and MOPED for CACNB1 Gene
NURSA nuclear receptor signaling pathways regulating expression of CACNB1 Gene:
CACNB1SOURCE GeneReport for Unigene cluster for CACNB1 Gene:
Hs.635mRNA Expression by UniProt/SwissProt for CACNB1 Gene:
Q02641-CACB1_HUMAN
Tissue specificity:
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(4.6)
- Heart(4.1)
Primer Products
-
OriGene qPCR primer pairs for CACNB1
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Recommended
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 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | CACNB1 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | CACNB1 33 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Cacnb1 33 16 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | CACNB1 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | CACNB1 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | CACNB1 34 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | CACNB1 34 |
|
OneToOne | |
| zebrafish (Danio rerio) |
Actinopterygii | cacnb1 34 |
|
OneToOne | |
| fruit fly (Drosophila melanogaster) |
Insecta | Ca-bgr 35 |
|
|
|
| worm (Caenorhabditis elegans) |
Secernentea | ccb-1 35 |
|
|
|
| ccb-2 34 |
|
OneToOne | |||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.9266 34 |
|
OneToOne |
- Species where no ortholog for CACNB1 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)
- rat (Rattus norvegicus)
- 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)
- tropical clawed frog (Silurana tropicalis)
- wheat (Triticum aestivum)
Paralogs for CACNB1 Gene
(4) SIMAP similar genes for CACNB1 Gene using alignment to 2 proteins:
Variants for CACNB1 Gene
| SNP ID | Clin | Chr 17 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| VAR_036349 | A colorectal cancer sample | p.Pro339Leu | |||
| rs181552596 | likely-benign, not specified | 39,184,868(-) | G/A/C/T | intron_variant | |
| rs1000112331 | -- | 39,198,512(-) | C/T | upstream_transcript_variant | |
| rs1000150433 | -- | 39,187,935(-) | C/T | intron_variant | |
| rs1000198737 | -- | 39,176,956(-) | T/C | downstream_transcript_variant, genic_downstream_transcript_variant, 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 |
|
|
| malignant hyperthermia susceptibility |
|
|
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 58
- 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 58
- 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 58
- 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 58
- 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 58
Products for CACNB1 Gene
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- Browse R&D Systems for biochemical assays
- Browse Human Proteins and Enzymes
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- Custom Antibody ServicesOriGene Antibodies for CACNB1
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- Cloud-Clone Corp. disease models service
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- Cloud-Clone Corp. primary cells service
- Cyagen custom Knockout/knockin (KOKI) mouse models for CACNB1
- VectorBuilder custom plasmid, inducible vectors for CACNB1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CACNB1
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
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- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 117 available CACNB1 Antibodies ranked by validation data
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- antibodies-online: Search results for available CACNB1 related products ranked by validation data
- antibodies-online: Search results for 7 available CACNB1 Proteins ranked by validation data
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- GeneTex CACNB1 antibody for CACNB1
- Search GeneTex for Proteins for CACNB1
- ViGene Biosciences adenoviral particle packaged cDNA for CACNB1 gene
- ViGene Biosciences lentiviral particle packaged cDNA for CACNB1 gene
- ViGene Biosciences ready-to-package AAV shRNAs for CACNB1 gene
- Search ViGene Biosciences for CACNB1
- Santa Cruz Biotechnology (SCBT) Antibodies for CACNB1
- Search Santa Cruz Biotechnology (SCBT) for CACNB1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for CACNB1
- Horizon Cell Lines for CACNB1
- genomics-online: cdna clones - Search results for 130 available CACNB1 gene related products
- Overview of 130 available CACNB1 gene related products
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- orf clones - Search results for 130 available CACNB1 gene related products
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- genomics-online: gRNA clones - Search results for 130 available CACNB1 gene related products
- Overview of 130 available CACNB1 gene related products
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- genomics-online: primer clones - Search results for 130 available CACNB1 gene related products
- Overview of 130 available CACNB1 gene related products
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- genomics-online: shRNA clones - Search results for 130 available CACNB1 gene related products
- Overview of 130 available CACNB1 gene related products
- Recommended
Sources for CACNB1 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