PDE3A (phosphodiesterase 3A)

2011-10-01 Affiliation

Identity

HGNC

PDE3A

LOCATION

12p12.2

LOCUSID

5139

ALIAS

CGI-PDE,CGI-PDE

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 5139
MIM: 123805
HGNC: 8778
Ensembl: ENSG00000172572

Variants:

dbSNP: 5139
ClinVar: 5139
TCGA: ENSG00000172572
COSMIC: PDE3A

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000172572	ENST00000359062	Q14432

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Purine metabolism	KEGG	ko00230
Purine metabolism	KEGG	hsa00230
Morphine addiction	KEGG	hsa05032
Morphine addiction	KEGG	ko05032
cGMP-PKG signaling pathway	KEGG	hsa04022
cGMP-PKG signaling pathway	KEGG	ko04022
cAMP signaling pathway	KEGG	hsa04024
cAMP signaling pathway	KEGG	ko04024
Renin secretion	KEGG	hsa04924
Renin secretion	KEGG	ko04924
Hemostasis	REACTOME	R-HSA-109582
Platelet homeostasis	REACTOME	R-HSA-418346
Nitric oxide stimulates guanylate cyclase	REACTOME	R-HSA-392154
cGMP effects	REACTOME	R-HSA-418457
Signal Transduction	REACTOME	R-HSA-162582
Signaling by GPCR	REACTOME	R-HSA-372790
GPCR downstream signaling	REACTOME	R-HSA-388396
G alpha (s) signalling events	REACTOME	R-HSA-418555

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association	PD	PMIDs
PA444552	Hypertension	Disease	ClinicalAnnotation	associated	PD	31327267
PA445048	Nausea	Disease	ClinicalAnnotation	associated	PD
PA446051	Vomiting	Disease	ClinicalAnnotation	associated	PD
PA449899	hydrochlorothiazide	Chemical	ClinicalAnnotation	associated	PD	31327267
PA452618	opioids	Chemical	ClinicalAnnotation	associated	PD

References

Pubmed ID	Year	Title	Citations
19584346	2009	Genetic variants associated with cardiac structure and function: a meta-analysis and replication of genome-wide association data.	93
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	85
26095046	2015	Epigenetic Regulation of Phosphodiesterases 2A and 3A Underlies Compromised β-Adrenergic Signaling in an iPSC Model of Dilated Cardiomyopathy.	63
25961942	2015	PDE3A mutations cause autosomal dominant hypertension with brachydactyly.	41
16172121	2005	Isoforms of cyclic nucleotide phosphodiesterase PDE3 and their contribution to cAMP hydrolytic activity in subcellular fractions of human myocardium.	37
20089840	2010	Compartmentalized cyclic adenosine 3',5'-monophosphate at the plasma membrane clusters PDE3A and cystic fibrosis transmembrane conductance regulator into microdomains.	37
12466227	2002	Increased expression of the cGMP-inhibited cAMP-specific (PDE3) and cGMP binding cGMP-specific (PDE5) phosphodiesterases in models of pulmonary hypertension.	36
19478329	2009	Genome-wide study of single-nucleotide polymorphisms associated with azoospermia and severe oligozoospermia.	34
17332439	2007	Regulation of phosphodiesterase 3 and inducible cAMP early repressor in the heart.	33
19261611	2009	Protein kinase C-mediated phosphorylation and activation of PDE3A regulate cAMP levels in human platelets.	33

Citation

Dessen P

PDE3A (phosphodiesterase 3A)

Atlas Genet Cytogenet Oncol Haematol. 2011-10-01

Online version: http://atlasgeneticsoncology.org/gene/52435/pde3a-(phosphodiesterase-3a)