InnateDB Protein
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IDBP-479354.4
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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PDE8B
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Protein Name
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phosphodiesterase 8B
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Synonyms
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ADSD; PPNAD3;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000423461
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InnateDB Gene
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IDBG-30033 (PDE8B)
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Protein Structure
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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.
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Subcellular Localization |
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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.
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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}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
1
[view]
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Protein-Protein |
1
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
Accession |
GO Term |
GO:0000156
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two-component response regulator activity
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GO:0004114
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3',5'-cyclic-nucleotide phosphodiesterase activity
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GO:0046872
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metal ion binding
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR002073
3\'5\'-cyclic nucleotide phosphodiesterase, catalytic domain
IPR003607
HD/PDEase domain
IPR023088
3\'5\'-cyclic nucleotide phosphodiesterase
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PFAM |
PF00233
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PRINTS |
PR00387
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PIRSF |
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SMART |
SM00471
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TIGRFAMs |
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Modification |
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SwissProt |
O95263
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PhosphoSite |
PhosphoSite-O95263
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TrEMBL |
Q3ZCR2
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UniProt Splice Variant |
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Entrez Gene |
8622
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UniGene |
Hs.739571
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RefSeq |
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HUGO |
HGNC:8794
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OMIM |
603390
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CCDS |
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HPRD |
04546
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IMGT |
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EMBL |
AB085824
AB085825
AB085826
AB085827
AF079529
AL831924
AY129948
AY129949
AY129950
AY423729
BC043209
BC047627
CH471084
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GenPept |
AAC69564
AAH47627
AAN71723
AAN71724
AAN71725
AAN71726
AAN71727
AAS00492
BAC53762
BAC53763
BAC53764
BAC53765
CAD38584
EAW95803
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