The Function of CACNA2D1
The alpha-2/delta subunit of voltage-dependent calcium channels regulates calcium current density and activation/inactivation kinetics of the calcium channel. Plays an important role in excitation-contraction coupling.
Protein names
Recommended name:
Voltage-dependent calcium channel subunit alpha-2/delta-1Alternative name(s):
Voltage-gated calcium channel subunit alpha-2/delta-1- RS10262537 (CACNA2D1) ??
- RS10268774 (CACNA2D1) ??
- RS10954668 (CACNA2D1) ??
- RS117576300 (CACNA2D1) ??
- RS11978472 (CACNA2D1) ??
- RS2367911 (CACNA2D1) ??
- RS258671 (CACNA2D1) ??
- RS4732446 (CACNA2D1) ??
- RS6942458 (CACNA2D1) ??
- RS929351 (CACNA2D1) ??
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Top Gene-Substance Interactions
CACNA2D1 Interacts with These Diseases
| Disease | Score |
Substances That Increase CACNA2D1
| Substances | Interaction | Organism | Category |
Substances That Decrease CACNA2D1
| Substances | Interaction | Organism | Category |
Advanced Summary
Covered on Genetics Home Reference: Brugada syndromemalignant hyperthermia
From NCBI Gene: The preproprotein encoded by this gene is cleaved into multiple chains that comprise the alpha-2 and delta subunits of the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. Mutations in this gene can cause cardiac deficiencies, including Brugada syndrome and short QT syndrome. Alternate splicing results in multiple transcript variants, some of which may lack the delta subunit portion. [provided by RefSeq, Nov 2014] From UniProt: The alpha-2/delta subunit of voltage-dependent calcium channels regulates calcium current density and activation/inactivation kinetics of the calcium channel. Plays an important role in excitation-contraction coupling.
Conditions with Increased Gene Activity
| Condition | Change (log2fold) | Comparison | Species | Experimental variables | Experiment name |
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Conditions with Decreased Gene Activity
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Technical
The following transcription factors affect gene expression:
Tissue specificity:
Isoform 1 is expressed in skeletal muscle. Isoform 2 is expressed in the central nervous system. Isoform 2, isoform 4 and isoform 5 are expressed in neuroblastoma cells. Isoform 3, isoform 4 and isoform 5 are expressed in the aorta.
Gene Pathways:
Molecular Function:
Biological Processes:
- Calcium Ion Transmembrane Transport Via High Voltage-Gated Calcium Channel
- Calcium Ion Transport
- Calcium Ion Transport Into Cytosol
- Cardiac Conduction
- Cardiac Muscle Cell Action Potential Involved In Contraction
- Membrane Depolarization During Cardiac Muscle Cell Action Potential
- Positive Regulation Of High Voltage-Gated Calcium Channel Activity
- Regulation Of Calcium Ion Transport
- Regulation Of Heart Rate By Cardiac Conduction
- Regulation Of Membrane Repolarization During Action Potential
- Regulation Of Ventricular Cardiac Muscle Cell Membrane Repolarization
Drug Bank:
- Cyclandelate
- Felodipine
- Ibutilide
- Isradipine
- Magnesium Sulfate
- Nicardipine
- Nilvadipine
- Nisoldipine
- Nitrendipine
- Spironolactone
- Amlodipine
- Gabapentin
- Nifedipine