PDE3A Chromosome 12
Phosphodiesterase 3A
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What This Gene Does
This gene encodes a member of the cGMP-inhibited cyclic nucleotide phosphodiesterase (cGI-PDE) family. cGI-PDE enzymes hydrolyze both cAMP and cGMP, and play critical roles in many cellular processes by regulating the amplitude and duration of intracellular cyclic nucleotide signals. The encoded protein mediates platelet aggregation and also plays important roles in cardiovascular function by regulating vascular smooth muscle contraction and relaxation. Inhibitors of the encoded protein may be effective in treating congestive heart failure. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]
Gene Info
Gene Group
Phosphodiesterases
Locus Type
gene with protein product
Location
12p12.2
Ensembl
ENSG00000172572
Associated Conditions (4)
VATER association
Inborn genetic diseases
PDE3A-related disorder
Brachydactyly-arterial hypertension syndrome
Key Variants
RS151312475
Conflicting classifications of pathogenicity
Health Risk
RS200052001
Conflicting classifications of pathogenicity
VATER association, VATER association
Health Risk
RS372559314
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS372953537
Conflicting classifications of pathogenicity
Inborn genetic diseases, PDE3A-related disorder, Inborn genetic diseases
Health Risk
RS760787571
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1592115698
Likely pathogenic
Brachydactyly-arterial hypertension syndrome, Brachydactyly-arterial hypertension syndrome
Health Risk
RS2121515547
Likely pathogenic
Health Risk
RS794726864
Pathogenic
Brachydactyly-arterial hypertension syndrome, Brachydactyly-arterial hypertension syndrome, Brachydactyly-arterial hypertension syndrome
Health Risk
RS794726865
Pathogenic
Brachydactyly-arterial hypertension syndrome, Brachydactyly-arterial hypertension syndrome
Health Risk
RS794726866
Pathogenic
Brachydactyly-arterial hypertension syndrome, Inborn genetic diseases, Brachydactyly-arterial hypertension syndrome
Health Risk
RS794726867
Pathogenic
Brachydactyly-arterial hypertension syndrome, Brachydactyly-arterial hypertension syndrome
Health Risk
RS794726868
Pathogenic
Brachydactyly-arterial hypertension syndrome, Brachydactyly-arterial hypertension syndrome, Brachydactyly-arterial hypertension syndrome
Health Risk
All Variants (12)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS151312475 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200052001 | Health Risk | Conflicting classifications of pathogenicity | VATER association, VATER association |
| RS372559314 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS372953537 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, PDE3A-related disorder, Inborn genetic diseases |
| RS760787571 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1592115698 | Health Risk | Likely pathogenic | Brachydactyly-arterial hypertension syndrome, Brachydactyly-arterial hypertension syndrome |
| RS2121515547 | Health Risk | Likely pathogenic | — |
| RS794726864 | Health Risk | Pathogenic | Brachydactyly-arterial hypertension syndrome, Brachydactyly-arterial hypertension syndrome, Brachydactyly-arterial hypertension syndrome |
| RS794726865 | Health Risk | Pathogenic | Brachydactyly-arterial hypertension syndrome, Brachydactyly-arterial hypertension syndrome |
| RS794726866 | Health Risk | Pathogenic | Brachydactyly-arterial hypertension syndrome, Inborn genetic diseases, Brachydactyly-arterial hypertension syndrome |
| RS794726867 | Health Risk | Pathogenic | Brachydactyly-arterial hypertension syndrome, Brachydactyly-arterial hypertension syndrome |
| RS794726868 | Health Risk | Pathogenic | Brachydactyly-arterial hypertension syndrome, Brachydactyly-arterial hypertension syndrome, Brachydactyly-arterial hypertension syndrome |