PDE2A Chromosome 11
Phosphodiesterase 2A
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What This Gene Does
Enables several functions, including 3',5'-cyclic-nucleotide phosphodiesterase activity; anion binding activity; and metal ion binding activity. Involved in several processes, including cellular response to cytokine stimulus; regulation of signal transduction; and regulation of vascular permeability. Located in several cellular components, including cytosol; mitochondrial membrane; and perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
"Phosphodiesterases|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
11q13.4
Ensembl
ENSG00000186642
Associated Conditions (3)
Inborn genetic diseases
Intellectual developmental disorder with paroxysmal dyskinesia or seizures
6 conditions
Key Variants
RS192509310
Conflicting classifications of pathogenicity
Health Risk
RS202107033
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS111657177
Likely pathogenic
Intellectual developmental disorder with paroxysmal dyskinesia or seizures, Intellectual developmental disorder with paroxysmal dyskinesia or seizures
Health Risk
RS1591023585
Pathogenic
6 conditions, Intellectual developmental disorder with paroxysmal dyskinesia or seizures, 6 conditions
Health Risk
RS1855739332
Pathogenic
Intellectual developmental disorder with paroxysmal dyskinesia or seizures, Intellectual developmental disorder with paroxysmal dyskinesia or seizures
Health Risk
RS1855880808
Pathogenic
Intellectual developmental disorder with paroxysmal dyskinesia or seizures, Intellectual developmental disorder with paroxysmal dyskinesia or seizures
Health Risk
RS1856914827
Pathogenic
Intellectual developmental disorder with paroxysmal dyskinesia or seizures, Intellectual developmental disorder with paroxysmal dyskinesia or seizures
Health Risk
RS2496345542
Pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS987916591
Pathogenic
Intellectual developmental disorder with paroxysmal dyskinesia or seizures, Intellectual developmental disorder with paroxysmal dyskinesia or seizures
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS192509310 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS202107033 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS111657177 | Health Risk | Likely pathogenic | Intellectual developmental disorder with paroxysmal dyskinesia or seizures, Intellectual developmental disorder with paroxysmal dyskinesia or seizures |
| RS1591023585 | Health Risk | Pathogenic | 6 conditions, Intellectual developmental disorder with paroxysmal dyskinesia or seizures, 6 conditions |
| RS1855739332 | Health Risk | Pathogenic | Intellectual developmental disorder with paroxysmal dyskinesia or seizures, Intellectual developmental disorder with paroxysmal dyskinesia or seizures |
| RS1855880808 | Health Risk | Pathogenic | Intellectual developmental disorder with paroxysmal dyskinesia or seizures, Intellectual developmental disorder with paroxysmal dyskinesia or seizures |
| RS1856914827 | Health Risk | Pathogenic | Intellectual developmental disorder with paroxysmal dyskinesia or seizures, Intellectual developmental disorder with paroxysmal dyskinesia or seizures |
| RS2496345542 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS987916591 | Health Risk | Pathogenic | Intellectual developmental disorder with paroxysmal dyskinesia or seizures, Intellectual developmental disorder with paroxysmal dyskinesia or seizures |