Entity Details

Primary name PDE6H
Entity type gene
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Details

PrimaryID5149
RefseqGeneNG_016859
SymbolPDE6H
Namephosphodiesterase 6H
Chromosome12
Location12p12.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1996-06-24
ModificationDate2021-06-22

Ontological Relatives

UniProt IDsCNCG_HUMAN

GO terms

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GOName
GO:0000187 obsolete activation of MAPK activity
GO:0004857 enzyme inhibitor activity
GO:0007601 visual perception
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:0050896 response to stimulus

Diseases

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Disease IDSourceNameDescription
610024 OMIMCone dystrophy, retinal 3A (RCD3A)A rare form of cone dystrophy associated with supernormal rod responses. The disorder is characterized by reduced visual acuity, photoaversion, night blindness, and abnormal color vision. At an early age, the retina shows subtle depigmentation at the macula and, later, more obvious areas of atrophy. The disease is caused by variants affecting the gene represented in this entry.

Interactions

12 interactions