Homo sapiens Protein: PDE8B | |||||||||||||||||||
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Summary | |||||||||||||||||||
InnateDB Protein | IDBP-30041.7 | ||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
Gene Symbol | PDE8B | ||||||||||||||||||
Protein Name | phosphodiesterase 8B | ||||||||||||||||||
Synonyms | ADSD; PPNAD3; | ||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||
Ensembl Protein | ENSP00000345446 | ||||||||||||||||||
InnateDB Gene | IDBG-30033 (PDE8B) | ||||||||||||||||||
Protein Structure | |||||||||||||||||||
UniProt Annotation | |||||||||||||||||||
Function | Hydrolyzes the second messenger cAMP, which is a key regulator of many important physiological processes. May be involved in specific signaling in the thyroid gland. | ||||||||||||||||||
Subcellular Localization | |||||||||||||||||||
Disease Associations | Striatal degeneration autosomal dominant (ADSD) [MIM:609161]: 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. {ECO:0000269PubMed:20085714}. Note=The disease is caused by mutations affecting the gene represented in this entry.Primary pigmented nodular adrenocortical disease 3 (PPNAD3) [MIM:614190]: 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. {ECO:0000269PubMed:18431404}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||
Tissue Specificity | Abundantly expressed in the thyroid. Also very weakly expressed in brain, spinal cord and placenta. In the thyroid isoform 1 predominates, and isoforms 2 and 6 are also highly expressed. In the placenta isoforms 1 and 2 are expressed equally. In the brain isoform 2 predominates. {ECO:0000269PubMed:12372422, ECO:0000269PubMed:12681444}. | ||||||||||||||||||
Comments | |||||||||||||||||||
Interactions | |||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||
PDB ID | |||||||||||||||||||
InterPro |
IPR000014
PAS domain IPR001789 Signal transduction response regulator, receiver domain IPR002073 3\'5\'-cyclic nucleotide phosphodiesterase, catalytic domain IPR003607 HD/PDEase domain IPR011006 CheY-like superfamily IPR013938 3\'5\'-cyclic nucleotide phosphodiesterase PDE8 IPR023088 3\'5\'-cyclic nucleotide phosphodiesterase |
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PFAM |
PF13188
PF13426 PF00072 PF00233 PF08629 |
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PRINTS |
PR00387
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PIRSF | |||||||||||||||||||
SMART |
SM00091
SM00448 SM00471 |
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TIGRFAMs | |||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||
Modification | |||||||||||||||||||
Cross-References | |||||||||||||||||||
SwissProt | O95263 | ||||||||||||||||||
PhosphoSite | PhosphoSite-O95263 | ||||||||||||||||||
TrEMBL | Q3ZCR2 | ||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | 8622 | ||||||||||||||||||
UniGene | Hs.739571 | ||||||||||||||||||
RefSeq | NP_001025025 | ||||||||||||||||||
HUGO | HGNC:8794 | ||||||||||||||||||
OMIM | 603390 | ||||||||||||||||||
CCDS | CCDS34191 | ||||||||||||||||||
HPRD | 04546 | ||||||||||||||||||
IMGT | |||||||||||||||||||
EMBL | AB085824 AB085825 AB085826 AB085827 AC010234 AC022414 AC022422 AF079529 AL831924 AY129948 AY129949 AY129950 AY423729 BC043209 BC047627 CH471084 | ||||||||||||||||||
GenPept | AAC69564 AAH47627 AAN71723 AAN71724 AAN71725 AAN71726 AAN71727 AAS00492 BAC53762 BAC53763 BAC53764 BAC53765 CAD38584 EAW95803 | ||||||||||||||||||