CACNA2D2
Domain
The MIDAS-like motif in the VWFA domain binds divalent metal cations and is required to promote trafficking of the alpha-1 (CACNA1) subunit to the plasma membrane by an integrin-like switch.
Function
The alpha-2/delta subunit of voltage-dependent calcium channels regulates calcium current density and activation/inactivation kinetics of the calcium channel. Acts as a regulatory subunit for P/Q-type calcium channel (CACNA1A), N-type (CACNA1B), L-type (CACNA1C OR CACNA1D) and possibly T-type (CACNA1G) (PubMed:15111129, PubMed:23339110). Overexpression induces apoptosis.
Involvement in disease
Cerebellar atrophy with seizures and variable developmental delay
CASVDD
An autosomal recessive neurologic disorder characterized by cerebellar ataxia, atrophy of the cerebellar vermis, severe refractory seizures with early onset, and global developmental delay compatible with epileptic encephalopathy in most patients. Disease severity is variable and normal cognitive development has also been reported.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
May be proteolytically processed into subunits alpha-2-2 and delta-2 that are disulfide-linked. It is however unclear whether such cleavage really takes place in vivo and has a functional role (By similarity).
Sequence Similarities
Belongs to the calcium channel subunit alpha-2/delta family.
Tissue Specificity
Predominantly present in cerebellar cortex. Present in various lung tumor cell lines, while it is absent in normal lung (at protein level). Highly expressed in heart, lung, testis, pancreas and skeletal muscle. Also expressed in kidney, liver, placenta and brain.
Cellular localization
- Membrane
- Single-pass type I membrane protein
- Colocalizes with CACNA1A in lipid raft fractions.
Alternative names
KIAA0558, CACNA2D2, Voltage-dependent calcium channel subunit alpha-2/delta-2, Voltage-gated calcium channel subunit alpha-2/delta-2