Entity Details

Primary name PDE8B
Entity type gene
Source Source Link

Details

PrimaryID8622
RefseqGeneNG_023364
SymbolPDE8B
Namephosphodiesterase 8B
Chromosome5
Location5q13.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-11-30
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsPDE8B_HUMAN

GO terms

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GOName
GO:0004114 3',5'-cyclic-nucleotide phosphodiesterase activity
GO:0004115 3',5'-cyclic-AMP phosphodiesterase activity
GO:0005829 cytosol
GO:0006198 cAMP catabolic process
GO:0007165 signal transduction
GO:0007186 G protein-coupled receptor signaling pathway
GO:0046872 metal ion binding

Diseases

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Disease IDSourceNameDescription
609161 OMIMStriatal degeneration, autosomal dominant 1 (ADSD1)A movement disorder affecting the striatal part of the basal ganglia and characterized by bradykinesia, dysarthria and muscle rigidity. These symptoms resemble idiopathic Parkinson disease, but tremor is not present. The disease is caused by variants affecting the gene represented in this entry.
614190 OMIMPrimary pigmented nodular adrenocortical disease 3 (PPNAD3)A rare bilateral adrenal defect causing ACTH-independent Cushing syndrome. Macroscopic appearance of the adrenals is characteristic with small pigmented micronodules observed in the cortex. Adrenal glands show overall normal size and weight, and multiple small yellow-to-dark brown nodules surrounded by a cortex with a uniform appearance. Microscopically, there are moderate diffuse cortical hyperplasia with mostly nonpigmented nodules, multiple capsular deficits and massive circumscribed and infiltrating extra-adrenal cortical excrescences with micronodules. Clinical manifestations of Cushing syndrome include facial and truncal obesity, abdominal striae, muscular weakness, osteoporosis, arterial hypertension, diabetes. The disease is caused by variants affecting the gene represented in this entry.

Interactions

2 interactions

InteractorPartnerSourcesPublicationsLink
PDE8BXPO1BioGRID26673895 details
PDE8BUCHL1BioGRID32120844 details