CACNA1B (calcium voltage-gated channel subunit alpha1 B)
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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774 |
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Gene name
Gene Name - the full gene name approved by the HGNC.
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Calcium voltage-gated channel subunit alpha1 B |
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Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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CACNA1B |
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Synonyms (NCBI Gene)
Gene synonyms aliases
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BIII, CACNL1A5, CACNN, Cav2.2, DYT23, NEDNEH |
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Chromosome
Chromosome number
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9 |
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Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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9q34.3 |
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Summary
Summary of gene provided in NCBI Entrez Gene.
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The protein encoded by this gene is the pore-forming subunit of an N-type voltage-dependent calcium channel, which controls neurotransmitter release from neurons. The encoded protein forms a complex with alpha-2, beta, and delta subunits to form the high- |
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SNPs
SNP information provided by dbSNP.
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miRNA
miRNA information provided by mirtarbase database.
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Gene ontology (GO)
Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDs
Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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| Protein | ||||||||||||||||||||||||||||||||||||
| UniProt ID | Q00975 | |||||||||||||||||||||||||||||||||||
| Protein name | Voltage-dependent N-type calcium channel subunit alpha-1B (Brain calcium channel III) (BIII) (Calcium channel, L type, alpha-1 polypeptide isoform 5) (Voltage-gated calcium channel subunit alpha Cav2.2) | |||||||||||||||||||||||||||||||||||
| Protein function | Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expressio | |||||||||||||||||||||||||||||||||||
| PDB | 2LCM , 7MIX , 7MIY , 7VFS , 7VFU , 7VFV , 7VFW | |||||||||||||||||||||||||||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Isoform Alpha-1b-1 and isoform Alpha-1b-2 are expressed in the central nervous system, but not in skeletal muscle or aorta. Expressed in the cerebral white matter, cortex, hippocampus, basal ganglia, and cerebellum (PubMed:30982612). { | |||||||||||||||||||||||||||||||||||
| Sequence | ||||||||||||||||||||||||||||||||||||
| Sequence length | 2339 | |||||||||||||||||||||||||||||||||||
| Interactions | View interactions | |||||||||||||||||||||||||||||||||||
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Pathways
Pathway information has different metabolic/signaling pathways associated with genes.
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Associated diseases
Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
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