PDE8B (phosphodiesterase 8B)

2008-12-01  

Identity

HGNC
LOCATION
5q13.3
LOCUSID
ALIAS
ADSD,PPNAD3
FUSION GENES

Other Information

Locus ID:

NCBI: 8622
MIM: 603390
HGNC: 8794
Ensembl: ENSG00000284762

Variants:

dbSNP: 8622
ClinVar: 8622
TCGA: ENSG00000284762
COSMIC: PDE8B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000284762ENST00000646262A0A2R8Y4E6

Pathways

PathwaySourceExternal ID
Purine metabolismKEGGko00230
Purine metabolismKEGGhsa00230
Morphine addictionKEGGhsa05032
Morphine addictionKEGGko05032
Signal TransductionREACTOMER-HSA-162582
Signaling by GPCRREACTOMER-HSA-372790
GPCR downstream signalingREACTOMER-HSA-388396
G alpha (s) signalling eventsREACTOMER-HSA-418555

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
185141602008Phosphodiesterase 8B gene variants are associated with serum TSH levels and thyroid function.46
185141602008Phosphodiesterase 8B gene variants are associated with serum TSH levels and thyroid function.46
184314042008A cAMP-specific phosphodiesterase (PDE8B) that is mutated in adrenal hyperplasia is expressed widely in human and mouse tissues: a novel PDE8B isoform in human adrenal cortex.38
128954432003Alterations on phosphodiesterase type 7 and 8 isozyme mRNA expression in Alzheimer's disease brains examined by in situ hybridization.22
126814442003Comparison of enzymatic characterization and gene organization of cyclic nucleotide phosphodiesterase 8 family in humans.21
223354822012Identification of novel genetic variants in phosphodiesterase 8B (PDE8B), a cAMP-specific phosphodiesterase highly expressed in the adrenal cortex, in a cohort of patients with adrenal tumours.21
194297012009Abnormalities of cAMP signaling are present in adrenocortical lesions associated with ACTH-independent Cushing syndrome despite the absence of mutations in known genes.19
123724222002Genomic organization, chromosomal localization, and alternative splicing of the human phosphodiesterase 8B gene.15
198200082009Phosphodiesterase 8B gene polymorphism is associated with subclinical hypothyroidism in pregnancy.12

Citation

Dessen P

PDE8B (phosphodiesterase 8B)

Atlas Genet Cytogenet Oncol Haematol. 2008-12-01

Online version: http://atlasgeneticsoncology.org/gene/50598/pde8b