Version: 8.0.0Date: Tue Jan 28 2025
Gene
CACNA1C
- Species
- Homo sapiens
- Symbol
- CACNA1C
- Name
- calcium voltage-gated channel subunit alpha1 C
- Synonyms
- CACH2
- CACN2
- Biotype
- protein coding gene
- Automated Description
- Enables alpha-actinin binding activity; calmodulin binding activity; and voltage-gated calcium channel activity. Contributes to voltage-gated calcium channel activity involved in cardiac muscle cell action potential. Involved in several processes, including calcium ion transmembrane transport via high voltage-gated calcium channel; embryonic forelimb morphogenesis; and regulation of heart contraction. Located in cytoplasm; plasma membrane; and postsynaptic density. Part of L-type voltage-gated calcium channel complex. Implicated in Brugada syndrome 3; Timothy syndrome; long QT syndrome 8; and neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures.
- RGD Description
- This gene encodes an alpha-1 subunit of a voltage-dependent calcium channel. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. The alpha-1 subunit consists of 24 transmembrane segments and forms the pore through which ions pass into the cell. The calcium channel consists of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. There are multiple isoforms of each of these proteins, either encoded by different genes or the result of alternative splicing of transcripts. The protein encoded by this gene binds to and is inhibited by dihydropyridine. Alternative splicing results in many transcript variants encoding different proteins. Some of the predicted proteins may not produce functional ion channel subunits. [provided by RefSeq, Oct 2012]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR45628
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Phenotypes
- Primary Sources
- None
- Other Sources
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Disease Associations
Cases where the expected disease association was NOT found
Cell color indicative of annotation volume
No data available
Alleles and Variants
Allele/Variant Symbol | Allele Synonyms | Category | Variant | Variant type | Molecular consequence | Has Disease Annotations | Has Phenotype Annotations |
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Transgenic Alleles
Species (carrying the transgene) | Allele symbol | Transgenic construct | Expressed components | Knock-down targets | Regulatory regions | Has Disease Annotations | Has Phenotype Annotations |
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Models
Model name | Experimental condition | Associated Human Diseases | Associated Phenotypes | Modifier | Source |
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Sequence Feature Viewer
- Genome location
- Chr12:1970772...2697950 + (727.18 kb)
- Assembly version
- GRCh38
- Viewer Help
Data currently unavailable; sequence viewer under construction
Expression
- Primary Sources
- None
- Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.