Entity Details

Primary name PDE6G
Entity type gene
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Details

PrimaryID5148
RefseqGeneNG_009834
SymbolPDE6G
Namephosphodiesterase 6G
Chromosome17
Location17q25.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1995-07-13
ModificationDate2021-06-22

Ontological Relatives

UniProt IDsCNRG_HUMAN

GO terms

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GOName
GO:0000187 obsolete activation of MAPK activity
GO:0004857 enzyme inhibitor activity
GO:0005886 plasma membrane
GO:0007223 Wnt signaling pathway, calcium modulating pathway
GO:0007601 visual perception
GO:0016056 rhodopsin mediated signaling pathway
GO:0022400 regulation of rhodopsin mediated signaling pathway
GO:0030507 spectrin binding
GO:0030553 cGMP binding
GO:0042622 photoreceptor outer segment membrane
GO:0045742 positive regulation of epidermal growth factor receptor signaling pathway
GO:0045745 positive regulation of G protein-coupled receptor signaling pathway
GO:0047555 3',5'-cyclic-GMP phosphodiesterase activity
GO:0097381 photoreceptor disc membrane

Diseases

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Disease IDSourceNameDescription
613582 OMIMRetinitis pigmentosa 57 (RP57)A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. The disease is caused by variants affecting the gene represented in this entry.

Interactions

12 interactions