======= CACNA2D1 =======
== Gene Information ==
* **Official Symbol**: CACNA2D1
* **Official Name**: calcium voltage-gated channel auxiliary subunit alpha2delta 1
* **Aliases and Previous Symbols**: N/A
* **Entrez ID**: [[https://www.ncbi.nlm.nih.gov/gene/?term=781|781]]
* **UniProt**: [[https://www.uniprot.org/uniprot/P54289|P54289]]
* **Interactions**: [[https://thebiogrid.org/search.php?search=CACNA2D1&organism=9606|BioGRID]]
* **PubMed articles**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20CACNA2D1|Open PubMed]]
* **OMIM**: [[https://omim.org/entry/114204|Open OMIM]]
== Function Summary ==
* **Entrez Summary**: 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].
* **UniProt Summary**: 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 (By similarity). {ECO:0000250}.
|VGCC alpha2|
|VWA N|
|VWA|
|Cache 1|
|voltage-gated calcium channel activity involved in bundle of His cell action potential|
|membrane depolarization during bundle of His cell action potential|
|calcium ion transmembrane transport via high voltage-gated calcium channel|
|voltage-gated calcium channel activity involved in cardiac muscle cell action potential|
|bundle of His cell action potential|
|bundle of His cell to Purkinje myocyte signaling|
|positive regulation of high voltage-gated calcium channel activity|
|regulation of membrane repolarization during action potential|
|calcium ion import across plasma membrane|
|calcium ion import into cytosol|
|regulation of calcium ion transmembrane transport via high voltage-gated calcium channel|
|positive regulation of voltage-gated calcium channel activity|
|L-type voltage-gated calcium channel complex|
|bundle of His cell to Purkinje myocyte communication|
|regulation of high voltage-gated calcium channel activity|
|membrane depolarization during cardiac muscle cell action potential|
|regulation of ventricular cardiac muscle cell membrane repolarization|
|regulation of cardiac muscle cell membrane repolarization|
|cell-cell signaling involved in cardiac conduction|
|voltage-gated calcium channel complex|
|membrane depolarization during action potential|
|regulation of membrane repolarization|
|regulation of voltage-gated calcium channel activity|
|regulation of heart rate by cardiac conduction|
|positive regulation of calcium ion transmembrane transporter activity|
|cardiac muscle cell action potential involved in contraction|
|cellular response to amyloid-beta|
|voltage-gated calcium channel activity|
|cardiac muscle cell contraction|
|calcium ion import|
|sarcoplasmic reticulum|
|cell communication involved in cardiac conduction|
|regulation of action potential|
|response to amyloid-beta|
|cardiac muscle cell action potential|
|membrane depolarization|
|calcium ion transmembrane import into cytosol|
|positive regulation of cation channel activity|
|positive regulation of calcium ion transmembrane transport|
|calcium ion transport into cytosol|
|inorganic ion import across plasma membrane|
|inorganic cation import across plasma membrane|
|cardiac muscle contraction|
|heart contraction|
|regulation of calcium ion transmembrane transporter activity|
|actin-mediated cell contraction|
|cytosolic calcium ion transport|
|cardiac conduction|
|action potential|
|regulation of heart rate|
|import across plasma membrane|
|heart process|
|positive regulation of ion transmembrane transporter activity|
|striated muscle contraction|
|actin filament-based movement|
|positive regulation of transporter activity|
|positive regulation of calcium ion transport|
|multicellular organismal signaling|
|positive regulation of cation transmembrane transport|
|regulation of calcium ion transmembrane transport|
|positive regulation of ion transmembrane transport|
|regulation of cation channel activity|
|calcium ion transmembrane transport|
|positive regulation of transmembrane transport|
|regulation of heart contraction|
|regulation of calcium ion transport|
|calcium ion transport|
|muscle contraction|
|regulation of ion transmembrane transporter activity|
|regulation of transmembrane transporter activity|
|positive regulation of ion transport|
|regulation of transporter activity|
|positive regulation of cytosolic calcium ion concentration|
|regulation of blood circulation|
|divalent metal ion transport|
|muscle system process|
|divalent inorganic cation transport|
|cellular response to peptide|
|regulation of cytosolic calcium ion concentration|
|regulation of cation transmembrane transport|
|regulation of metal ion transport|
|blood circulation|
|circulatory system process|
|regulation of membrane potential|
|cellular calcium ion homeostasis|
|calcium ion homeostasis|
|cellular divalent inorganic cation homeostasis|
|response to peptide|
|regulation of ion transmembrane transport|
|divalent inorganic cation homeostasis|
|cellular metal ion homeostasis|
|inorganic cation transmembrane transport|
|regulation of transmembrane transport|
|actin filament-based process|
|regulation of system process|
|cellular response to organonitrogen compound|
|cation transmembrane transport|
|metal ion homeostasis|
|cellular cation homeostasis|
|metal ion transport|
|cellular ion homeostasis|
|inorganic ion transmembrane transport|
|cellular response to nitrogen compound|
|import into cell|
|regulation of ion transport|
|cation homeostasis|
|inorganic ion homeostasis|
|cellular chemical homeostasis|
|ion homeostasis|
|cation transport|
|cellular homeostasis|
|ion transmembrane transport|
|positive regulation of transport|
|response to organonitrogen compound|
|cellular response to oxygen-containing compound|
|response to nitrogen compound|
|chemical homeostasis|
|cell-cell signaling|
|cellular response to endogenous stimulus|
|transmembrane transport|
|ion transport|
|response to endogenous stimulus|
|movement of cell or subcellular component|
|response to oxygen-containing compound|
|homeostatic process|
|positive regulation of molecular function|
|establishment of localization in cell|
|regulation of transport|
|system process|
\\
=== CRISPR Data ===
^Screen^Score^
|[[:results:exp111|R-DABN 8μM R03 exp111]]|-1.87|
|[[:results:exp35|TRAIL 5ng/ml R00 exp35]]|1.85|
|[[:results:exp348|Cyclosporin-A 3μM R07 exp348]]|1.94|
No correlation found to any other genes in chemogenomics.
Global Fraction of Cell Lines Where Essential: 0/739
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|0/28|
|blood|0/28|
|bone|0/26|
|breast|0/33|
|central nervous system|0/56|
|cervix|0/4|
|colorectal|0/17|
|esophagus|0/13|
|fibroblast|0/1|
|gastric|0/16|
|kidney|0/21|
|liver|0/20|
|lung|0/75|
|lymphocyte|0/16|
|ovary|0/26|
|pancreas|0/24|
|peripheral nervous system|0/16|
|plasma cell|0/15|
|prostate|0/1|
|skin|0/24|
|soft tissue|0/9|
|thyroid|0/2|
|upper aerodigestive|0/22|
|urinary tract|0/29|
|uterus|0/5|
== Essentiality in NALM6 ==
* **Essentiality Rank**: 5572
* **Expression level (log2 read counts)**: -5.6
{{:chemogenomics:nalm6 dist.png?nolink |}}