PDE4D Chromosome 5
Phosphodiesterase 4D
Upload your DNA to see your personal genotypes for variants in PDE4D.
What This Gene Does
This gene encodes one of four mammalian counterparts to the fruit fly 'dunce' gene. The encoded protein has 3',5'-cyclic-AMP phosphodiesterase activity and degrades cAMP, which acts as a signal transduction molecule in multiple cell types. This gene uses different promoters to generate multiple alternatively spliced transcript variants that encode functional proteins.[provided by RefSeq, Sep 2009]
Gene Info
Gene Group
"Phosphodiesterases|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
5q11.2-q12.1
Ensembl
ENSG00000113448
Associated Conditions (4)
Acrodysostosis 2 with or without hormone resistance
PDE4D-related disorder
Inborn genetic diseases
Craniosynostosis syndrome
Key Variants
RS1345148257
Conflicting classifications of pathogenicity
Acrodysostosis 2 with or without hormone resistance, Acrodysostosis 2 with or without hormone resistance
Health Risk
RS1554033934
Conflicting classifications of pathogenicity
Acrodysostosis 2 with or without hormone resistance, Acrodysostosis 2 with or without hormone resistance
Health Risk
RS2153393425
Conflicting classifications of pathogenicity
Health Risk
RS2530962892
Conflicting classifications of pathogenicity
Acrodysostosis 2 with or without hormone resistance, Acrodysostosis 2 with or without hormone resistance
Health Risk
RS371950648
Conflicting classifications of pathogenicity
Health Risk
RS372946517
Conflicting classifications of pathogenicity
Acrodysostosis 2 with or without hormone resistance, PDE4D-related disorder, Inborn genetic diseases
Health Risk
RS375617990
Conflicting classifications of pathogenicity
Acrodysostosis 2 with or without hormone resistance, Acrodysostosis 2 with or without hormone resistance
Health Risk
RS538879121
Conflicting classifications of pathogenicity
Acrodysostosis 2 with or without hormone resistance, Acrodysostosis 2 with or without hormone resistance
Health Risk
RS557226166
Conflicting classifications of pathogenicity
Acrodysostosis 2 with or without hormone resistance, Acrodysostosis 2 with or without hormone resistance
Health Risk
RS577109679
Conflicting classifications of pathogenicity
Acrodysostosis 2 with or without hormone resistance, Acrodysostosis 2 with or without hormone resistance
Health Risk
RS748827625
Conflicting classifications of pathogenicity
Acrodysostosis 2 with or without hormone resistance, Acrodysostosis 2 with or without hormone resistance
Health Risk
RS749222606
Conflicting classifications of pathogenicity
Acrodysostosis 2 with or without hormone resistance, Inborn genetic diseases, Acrodysostosis 2 with or without hormone resistance
Health Risk
All Variants (37)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1345148257 | Health Risk | Conflicting classifications of pathogenicity | Acrodysostosis 2 with or without hormone resistance, Acrodysostosis 2 with or without hormone resistance |
| RS1554033934 | Health Risk | Conflicting classifications of pathogenicity | Acrodysostosis 2 with or without hormone resistance, Acrodysostosis 2 with or without hormone resistance |
| RS2153393425 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2530962892 | Health Risk | Conflicting classifications of pathogenicity | Acrodysostosis 2 with or without hormone resistance, Acrodysostosis 2 with or without hormone resistance |
| RS371950648 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS372946517 | Health Risk | Conflicting classifications of pathogenicity | Acrodysostosis 2 with or without hormone resistance, PDE4D-related disorder, Inborn genetic diseases |
| RS375617990 | Health Risk | Conflicting classifications of pathogenicity | Acrodysostosis 2 with or without hormone resistance, Acrodysostosis 2 with or without hormone resistance |
| RS538879121 | Health Risk | Conflicting classifications of pathogenicity | Acrodysostosis 2 with or without hormone resistance, Acrodysostosis 2 with or without hormone resistance |
| RS557226166 | Health Risk | Conflicting classifications of pathogenicity | Acrodysostosis 2 with or without hormone resistance, Acrodysostosis 2 with or without hormone resistance |
| RS577109679 | Health Risk | Conflicting classifications of pathogenicity | Acrodysostosis 2 with or without hormone resistance, Acrodysostosis 2 with or without hormone resistance |
| RS748827625 | Health Risk | Conflicting classifications of pathogenicity | Acrodysostosis 2 with or without hormone resistance, Acrodysostosis 2 with or without hormone resistance |
| RS749222606 | Health Risk | Conflicting classifications of pathogenicity | Acrodysostosis 2 with or without hormone resistance, Inborn genetic diseases, Acrodysostosis 2 with or without hormone resistance |
| RS750666346 | Health Risk | Conflicting classifications of pathogenicity | Acrodysostosis 2 with or without hormone resistance, Inborn genetic diseases, Acrodysostosis 2 with or without hormone resistance |
| RS755378627 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS756389970 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS765380141 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS775608955 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1554033904 | Health Risk | Likely pathogenic | — |
| RS1554039692 | Health Risk | Likely pathogenic | — |
| RS1743358464 | Health Risk | Likely pathogenic | Acrodysostosis 2 with or without hormone resistance, Acrodysostosis 2 with or without hormone resistance |
| RS1751141961 | Health Risk | Likely pathogenic | — |
| RS1751144333 | Health Risk | Likely pathogenic | Acrodysostosis 2 with or without hormone resistance, Acrodysostosis 2 with or without hormone resistance |
| RS2153305991 | Health Risk | Likely pathogenic | — |
| RS2153344866 | Health Risk | Likely pathogenic | — |
| RS397514469 | Health Risk | Likely pathogenic | Acrodysostosis 2 with or without hormone resistance, Acrodysostosis 2 with or without hormone resistance |
| RS1057520731 | Health Risk | Pathogenic | — |
| RS2479492253 | Health Risk | Pathogenic | Acrodysostosis 2 with or without hormone resistance, Acrodysostosis 2 with or without hormone resistance |
| RS2479493102 | Health Risk | Pathogenic | — |
| RS2530962740 | Health Risk | Pathogenic | Acrodysostosis 2 with or without hormone resistance, Acrodysostosis 2 with or without hormone resistance |
| RS387906744 | Health Risk | Pathogenic | Acrodysostosis 2 with or without hormone resistance, Acrodysostosis 2 with or without hormone resistance |
| RS397514464 | Health Risk | Pathogenic | Acrodysostosis 2 with or without hormone resistance, Acrodysostosis 2 with or without hormone resistance |
| RS397514465 | Health Risk | Pathogenic | Acrodysostosis 2 with or without hormone resistance, Acrodysostosis 2 with or without hormone resistance, Acrodysostosis 2 with or without hormone resistance |
| RS397514466 | Health Risk | Pathogenic | Acrodysostosis 2 with or without hormone resistance, Acrodysostosis 2 with or without hormone resistance |
| RS397514467 | Health Risk | Pathogenic | Acrodysostosis 2 with or without hormone resistance, Acrodysostosis 2 with or without hormone resistance |
| RS397514468 | Health Risk | Pathogenic | Acrodysostosis 2 with or without hormone resistance, Acrodysostosis 2 with or without hormone resistance |
| RS397515433 | Health Risk | Pathogenic | Acrodysostosis 2 with or without hormone resistance, Acrodysostosis 2 with or without hormone resistance |
| RS587777188 | Health Risk | Pathogenic | Acrodysostosis 2 with or without hormone resistance, Acrodysostosis 2 with or without hormone resistance |