Entity Details

Primary name PDE3A
Entity type gene
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Details

PrimaryID5139
RefseqGeneNG_030033
SymbolPDE3A
Namephosphodiesterase 3A
Chromosome12
Location12p12.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-21
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsPDE3A_HUMAN

GO terms

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GOName
GO:0001556 oocyte maturation
GO:0004114 3',5'-cyclic-nucleotide phosphodiesterase activity
GO:0004115 3',5'-cyclic-AMP phosphodiesterase activity
GO:0004119 cGMP-inhibited cyclic-nucleotide phosphodiesterase activity
GO:0005829 cytosol
GO:0006629 lipid metabolic process
GO:0007165 signal transduction
GO:0007186 G protein-coupled receptor signaling pathway
GO:0016021 integral component of membrane
GO:0019933 cAMP-mediated signaling
GO:0019934 cGMP-mediated signaling
GO:0040020 regulation of meiotic nuclear division
GO:0042493 response to drug
GO:0043066 negative regulation of apoptotic process
GO:0043116 negative regulation of vascular permeability
GO:0043117 positive regulation of vascular permeability
GO:0043951 negative regulation of cAMP-mediated signaling
GO:0046872 metal ion binding
GO:0060282 positive regulation of oocyte development
GO:0071321 cellular response to cGMP
GO:0071560 cellular response to transforming growth factor beta stimulus

Diseases

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Disease IDSourceNameDescription
112410 OMIMHypertension and brachydactyly syndrome (HTNB)A syndrome characterized by brachydactyly type E, severe salt-independent but age-dependent hypertension, an increased fibroblast growth rate, neurovascular contact at the rostral-ventrolateral medulla, and altered baroreflex blood pressure regulation. It results in death from stroke before age 50 years when untreated. Brachydactyly type E is characterized by shortening of the fingers mainly in the metacarpals and metatarsals. The disease is caused by variants affecting the gene represented in this entry.