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  3. CACNA2D1

CACNA2D1 (Calcium voltage-gated channel auxiliary subunit alpha2delta 1)

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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.

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Protein names

Recommended name:

Voltage-dependent calcium channel subunit alpha-2/delta-1

Alternative name(s):

Voltage-gated calcium channel subunit alpha-2/delta-1

CACNA2D1 SNPs

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  1. RS10262537 (CACNA2D1) ??
  2. RS10268774 (CACNA2D1) ??
  3. RS10954668 (CACNA2D1) ??
  4. RS117576300 (CACNA2D1) ??
  5. RS11978472 (CACNA2D1) ??
  6. RS2367911 (CACNA2D1) ??
  7. RS258671 (CACNA2D1) ??
  8. RS4732446 (CACNA2D1) ??
  9. RS6942458 (CACNA2D1) ??
  10. RS929351 (CACNA2D1) ??

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

Conditions with Decreased Gene Activity

Condition Change (log2fold) Comparison Species Experimental variables Experiment name

Technical

The following transcription factors affect gene expression:

  • Meis-1
  • AP-2gamma
  • Meis-1b
  • GCNF
  • AP-2beta

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:

  • MAPK signaling pathway
  • Arrhythmogenic right ventricular cardiomyopathy (ARVC)
  • Dilated cardiomyopathy
  • Hypertrophic cardiomyopathy (HCM)
  • Neuronal System
  • Cardiac muscle contraction

Molecular Function:

  • Metal Ion Binding
  • Voltage-Gated Calcium Channel Activity

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
*synonyms

Synonyms/Aliases/Alternative Names of the Gene:

hypothetical protein| A306_08639| Anapl_17455| AS27_15266| AS28_06483| CACNA2| CACNA2D2| CACNL2A| calcium channel alpha-2/delta subunit 1| calcium channel, L type, alpha 2 polypeptide| Calcium channel subunit alpha 2 delta (dihydropyridine - sensitive L-type)| calcium channel, voltage-dependent, alpha 2/delta subunit 1| calcium channel, voltage-dependent, alpha2/delta subunit 1| calcium channel, voltage-dependent, alpha 2/delta subunit 2| Ca(v)alpha2delta1| Cchl2a| CCHLA2| D623_10025616| DHSCCA| dihydropryridine-sensitive calcium channel alpha-2 subunit| dihydropyridine-sensitive calcium channel alpha 2| dihydropyridine-sensitive L-type, calcium channel alpha-2/delta subunit| H920_01035| I79_012770| LINC01112| lncRNA-N3| M91_06789| M959_02411| N300_00467| N301_07893| N302_11975| N303_03576| N305_09943| N306_11509| N307_02394| N308_05159| N309_03564| N312_00829| N320_08671| N322_11992| N324_02817| N325_02305| N327_02334| N329_03094| N333_11403| N336_02777| N339_11795| N340_12438| N341_11177| PAL_GLEAN10013656| PANDA_006133| TREES_T100016155| voltage-dependent calcium channel subunit alpha-2/delta-1| voltage-gated calcium channel subunit alpha-2/delta-1| Y1Q_014878| Y956_10550| Z169_02252| cacna2d1

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