PDE8B Chromosome 5
Phosphodiesterase 8B
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What This Gene Does
The protein encoded by this gene is a cyclic nucleotide phosphodiesterase (PDE) that catalyzes the hydrolysis of the second messenger cAMP. The encoded protein, which does not hydrolyze cGMP, is resistant to several PDE inhibitors. Defects in this gene are a cause of autosomal dominant striatal degeneration (ADSD). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2010]
Gene Info
Gene Group
"Phosphodiesterases|PAS domain containing"
Locus Type
gene with protein product
Location
5q13.3
Ensembl
ENSG00000113231
Associated Conditions (6)
Autosomal dominant striatal neurodegeneration type 1
Inborn genetic diseases
Pigmented nodular adrenocortical disease
primary
3
PDE8B-Related Disorders
Key Variants
RS201363586
Conflicting classifications of pathogenicity
Autosomal dominant striatal neurodegeneration type 1, Inborn genetic diseases, Autosomal dominant striatal neurodegeneration type 1
Health Risk
RS374692260
Conflicting classifications of pathogenicity
Autosomal dominant striatal neurodegeneration type 1, Autosomal dominant striatal neurodegeneration type 1
Health Risk
RS375768747
Conflicting classifications of pathogenicity
Autosomal dominant striatal neurodegeneration type 1, Inborn genetic diseases, Autosomal dominant striatal neurodegeneration type 1
Health Risk
RS377536938
Conflicting classifications of pathogenicity
Autosomal dominant striatal neurodegeneration type 1, Inborn genetic diseases, Autosomal dominant striatal neurodegeneration type 1
Health Risk
RS561890042
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS754040283
Conflicting classifications of pathogenicity
Health Risk
RS886060755
Conflicting classifications of pathogenicity
Autosomal dominant striatal neurodegeneration type 1, Autosomal dominant striatal neurodegeneration type 1
Health Risk
RS886060757
Conflicting classifications of pathogenicity
Autosomal dominant striatal neurodegeneration type 1, Autosomal dominant striatal neurodegeneration type 1
Health Risk
RS1793090227
Likely pathogenic
Autosomal dominant striatal neurodegeneration type 1, Autosomal dominant striatal neurodegeneration type 1
Health Risk
RS1796729286
Likely pathogenic
Health Risk
RS878853158
Likely pathogenic
Autosomal dominant striatal neurodegeneration type 1, Autosomal dominant striatal neurodegeneration type 1
Health Risk
RS121918360
Pathogenic
Pigmented nodular adrenocortical disease, primary, 3
Health Risk
All Variants (19)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS201363586 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant striatal neurodegeneration type 1, Inborn genetic diseases, Autosomal dominant striatal neurodegeneration type 1 |
| RS374692260 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant striatal neurodegeneration type 1, Autosomal dominant striatal neurodegeneration type 1 |
| RS375768747 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant striatal neurodegeneration type 1, Inborn genetic diseases, Autosomal dominant striatal neurodegeneration type 1 |
| RS377536938 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant striatal neurodegeneration type 1, Inborn genetic diseases, Autosomal dominant striatal neurodegeneration type 1 |
| RS561890042 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS754040283 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS886060755 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant striatal neurodegeneration type 1, Autosomal dominant striatal neurodegeneration type 1 |
| RS886060757 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant striatal neurodegeneration type 1, Autosomal dominant striatal neurodegeneration type 1 |
| RS1793090227 | Health Risk | Likely pathogenic | Autosomal dominant striatal neurodegeneration type 1, Autosomal dominant striatal neurodegeneration type 1 |
| RS1796729286 | Health Risk | Likely pathogenic | — |
| RS878853158 | Health Risk | Likely pathogenic | Autosomal dominant striatal neurodegeneration type 1, Autosomal dominant striatal neurodegeneration type 1 |
| RS121918360 | Health Risk | Pathogenic | Pigmented nodular adrenocortical disease, primary, 3 |
| RS1389677367 | Health Risk | Pathogenic | PDE8B-Related Disorders, PDE8B-Related Disorders |
| RS2149371436 | Health Risk | Pathogenic | — |
| RS2149371451 | Health Risk | Pathogenic | Autosomal dominant striatal neurodegeneration type 1, Autosomal dominant striatal neurodegeneration type 1 |
| RS2149371468 | Health Risk | Pathogenic | — |
| RS2531241138 | Health Risk | Pathogenic | — |
| RS2531989713 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS878853157 | Health Risk | Pathogenic | Autosomal dominant striatal neurodegeneration type 1, Autosomal dominant striatal neurodegeneration type 1 |