PDE2A
Domain
The GAF 1 domain functions as a dimerization domain.
The GAF 2 domains binds cGMP, which acts as an allosteric activator.
Function
cGMP-activated cyclic nucleotide phosphodiesterase with a dual-specificity for the second messengers cAMP and cGMP, which are key regulators of many important physiological processes (PubMed:15938621, PubMed:29392776, PubMed:9210593). Has a higher efficiency with cGMP compared to cAMP (PubMed:15938621). Plays a role in cell growth and migration (PubMed:24705027).
Isoform PDE2A2
Regulates mitochondrial cAMP levels and respiration (By similarity). Involved in the regulation of mitochondria morphology/dynamics and apoptotic cell death via local modulation of cAMP/PKA signaling in the mitochondrion, including the monitoring of local cAMP levels at the outer mitochondrial membrane and of PKA-dependent phosphorylation of DNM1L (PubMed:28463107).
Involvement in disease
Intellectual developmental disorder with paroxysmal dyskinesia or seizures
IDDPADS
An autosomal recessive disorder characterized by global developmental delay, impaired intellectual development, language delay, and early-onset paroxysmal hyperkinetic movement disorder that manifests as sudden falls or backward propulsion, eye or head deviation, and dystonic limb posturing followed by chorea and dyskinetic movements. Some patients may also develop epileptic seizures or only have seizures without a movement disorder.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the cyclic nucleotide phosphodiesterase family. PDE2 subfamily.
Tissue Specificity
Widely expressed (PubMed:29392776, PubMed:9210593). Expressed in brain, with high expression observed in the corpus striatum (PubMed:29392776). Also expressed in heart, placenta, lung, skeletal muscle, kidney and pancreas (PubMed:29392776, PubMed:9210593).
Cellular localization
- Isoform PDE2A3
- Cell membrane
- Lipid-anchor
- Isoform PDE2A2
- Mitochondrion matrix
- Mitochondrion inner membrane
- Mitochondrion outer membrane
- Isoform PDE2A1
- Cytoplasm
- Isoform 5
- Mitochondrion
Alternative names
Cyclic GMP-stimulated phosphodiesterase, CGS-PDE, cGSPDE, PDE2A