InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PDE8B

Summary

InnateDB Protein

IDBP-30045.7

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

ENSP00000330428

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.

Experimentally validated
Total	1 [view]
Protein-Protein	1 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000156	two-component response regulator activity
GO:0004114	3',5'-cyclic-nucleotide phosphodiesterase activity
GO:0046872	metal ion binding

Biological Process

GO:0000160	phosphorelay signal transduction system
GO:0006198	cAMP catabolic process
GO:0007165	signal transduction
GO:0009187	cyclic nucleotide metabolic process
GO:0035556	intracellular signal transduction

Cellular Component

GO:0005575	cellular_component
GO:0005829	cytosol

Protein Structure and Domains

PDB ID

InterPro

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

PFAM

PF00072
PF00233
PF08629

PRINTS

PR00387

PIRSF

SMART

SM00448
SM00471

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt