PDE11A Chromosome 2

Phosphodiesterase 11A

18 variants 18 Health Risk

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What This Gene Does

The 3',5'-cyclic nucleotides cAMP and cGMP function as second messengers in a wide variety of signal transduction pathways. 3',5'-cyclic nucleotide phosphodiesterases (PDEs) catalyze the hydrolysis of cAMP and cGMP to the corresponding 5'-monophosphates and provide a mechanism to downregulate cAMP and cGMP signaling. This gene encodes a member of the PDE protein superfamily. Mutations in this gene are a cause of Cushing disease and adrenocortical hyperplasia. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Gene Info

Gene Group

Phosphodiesterases

Locus Type

gene with protein product

Location

2q31.2

Ensembl

ENSG00000128655

Associated Conditions (6)

Pigmented nodular adrenocortical disease

primary

PDE11A-related disorder

Bardet-Biedl syndrome 16

See cases

Key Variants

RS138427178

Conflicting classifications of pathogenicity

Pigmented nodular adrenocortical disease, primary, 2

Health Risk

RS202117698

Conflicting classifications of pathogenicity

Pigmented nodular adrenocortical disease, primary, 2

Health Risk

RS529789124

Conflicting classifications of pathogenicity

Pigmented nodular adrenocortical disease, primary, 2

Health Risk

RS573163079

Conflicting classifications of pathogenicity

Pigmented nodular adrenocortical disease, primary, 2

Health Risk

RS756967751

Conflicting classifications of pathogenicity

Health Risk

RS76308115

Conflicting classifications of pathogenicity

Pigmented nodular adrenocortical disease, primary, 2

Health Risk

RS777448999

Conflicting classifications of pathogenicity

Health Risk

RS77934668

Conflicting classifications of pathogenicity

Health Risk

RS77972073

Conflicting classifications of pathogenicity

Health Risk

RS79400048

Conflicting classifications of pathogenicity

Pigmented nodular adrenocortical disease, primary, 2

Health Risk

Health Risk

Health Risk

All Variants (18)

RSID	Category	Clinical Significance	Conditions
RS138427178	Health Risk	Conflicting classifications of pathogenicity	Pigmented nodular adrenocortical disease, primary, 2
RS202117698	Health Risk	Conflicting classifications of pathogenicity	Pigmented nodular adrenocortical disease, primary, 2
RS529789124	Health Risk	Conflicting classifications of pathogenicity	Pigmented nodular adrenocortical disease, primary, 2
RS573163079	Health Risk	Conflicting classifications of pathogenicity	Pigmented nodular adrenocortical disease, primary, 2
RS756967751	Health Risk	Conflicting classifications of pathogenicity	PDE11A-related disorder, Pigmented nodular adrenocortical disease, primary
RS76308115	Health Risk	Conflicting classifications of pathogenicity	Pigmented nodular adrenocortical disease, primary, 2
RS777448999	Health Risk	Conflicting classifications of pathogenicity	PDE11A-related disorder, PDE11A-related disorder
RS77934668	Health Risk	Conflicting classifications of pathogenicity	PDE11A-related disorder, PDE11A-related disorder
RS77972073	Health Risk	Conflicting classifications of pathogenicity	—
RS79400048	Health Risk	Conflicting classifications of pathogenicity	Pigmented nodular adrenocortical disease, primary, 2
RS1064795513	Health Risk	Likely pathogenic	—
RS1553505929	Health Risk	Likely pathogenic	—
RS1574084195	Health Risk	Likely pathogenic	Pigmented nodular adrenocortical disease, primary, 2
RS2105581875	Health Risk	Likely pathogenic	Pigmented nodular adrenocortical disease, primary, 2
RS2105727398	Health Risk	Likely pathogenic	Pigmented nodular adrenocortical disease, primary, 2
RS769095538	Health Risk	Likely pathogenic	Pigmented nodular adrenocortical disease, primary, 2
RS769235876	Health Risk	Pathogenic/Likely pathogenic	Pigmented nodular adrenocortical disease, primary, 2
RS771254375	Health Risk	Pathogenic/Likely pathogenic	Pigmented nodular adrenocortical disease, primary, 2