| Gene Symbol |
CACNA2D1
|
| Entrez Gene |
781
|
| Alt Symbol |
CACNA2, CACNL2A, CCHL2A, LINC01112, lncRNA-N3
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
calcium channel, voltage-dependent, alpha 2/delta subunit 1
|
| Other Description |
calcium channel, L type, alpha 2 polypeptide|dihydropyridine-sensitive L-type, calcium channel alpha-2/delta subunit|voltage-dependent calcium channel subunit alpha-2/delta-1|voltage-gated calcium channel subunit alpha-2/delta-1
|
| Swissprots |
Q9UD82 Q17R45 Q9UD80 Q9UD81 P54289
|
| Accessions |
AAC78619 AAD20938 AAD51454 AAF03259 AAF19234 EAW76990 P54289 AI924415 AK055040 AK092048 AK299838 BAH13144 AL707206 AL833141 BC051339 BC117468 AAI17469 BC117470 AAI17471 BG055272 BI545104 BP258070 BU501177 M76559 AAA51903 XM_005250570 XP_005250627 XM_005250572 XP_005250629 XM_005250573 XP_005250630 XM_005250574 XP_005250631 XM_006716118 XP_006716181 XM_006716119 XP_006716182 XM_006716120 XP_006716183 XM_006716121 XP_006716184 XM_011516570 XP_011514872 XM_011516571 XP_011514873 XM_011516572 XP_011514874 XM_011516573 XP_011514875 XM_011516574 XP_011514876 NM_000722 NP_000713 NM_001302890 NP_001289819
|
| Function |
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}.
|
| Subcellular Location |
Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
|
| 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. {ECO:0000269|PubMed:1309651, ECO:0000269|PubMed:8107964}.
|
| Top Pathways |
MAPK signaling pathway, Cardiac muscle contraction, Hypertrophic cardiomyopathy (HCM), Arrhythmogenic right ventricular cardiomyopathy (ARVC), Dilated cardiomyopathy
|