PDE11A (Entrez ID: 50940)

Entrez Gene ID	50940
Official Gene Symbol	PDE11A (GeneCards)
Full name	phosphodiesterase 11A
Location	2q31.2
Other ids	Vega : OTTHUMG00000154188 MIM : 604961 HGNC : HGNC:8773 Ensembl : ENSG00000284741
Other names	PPNAD2
Summary	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]

Variants

Found 7 variants in this database.

Variant ID	Entrez Gene ID	Gene	Chromsome	Start	End	Disease	Method
888	50940	PDE11A	2	178936655	178936655	Human Skin Fibroblasts	HiSeq 2500
3151	50940	PDE11A	2	178590010	178590010	Asymptomatic	HiSeq 2500 HiSeq X Ten
3224	50940	PDE11A	2	178830796	178830796	Asymptomatic	HiSeq 2500 HiSeq X Ten
3259	50940	PDE11A	2	178753556	178753556	Asymptomatic	HiSeq 2500 HiSeq X Ten
3581	50940	PDE11A	2	178703292	178703292		HiSeq 2500 HiSeq X Ten
24973	50940	PDE11A	2	178652887	178652887	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning
34662	50940	PDE11A	2	178879181	178879181	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning Targeted Next Generation Sequencing