Entity Details

Primary name CNCG_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ13956
EntryNameCNCG_HUMAN
FullNameRetinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma
TaxID9606
Evidenceevidence at protein level
Length83
SequenceStatuscomplete
DateCreated1997-11-01
DateModified2021-06-02

Ontological Relatives

GenesPDE6H

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

Subcellular Location

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Domains

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DomainNameCategoryType
IPR006952 Retinal cGMP phosphodiesterase, gamma subunitFamilyFamily
IPR037030 Retinal cGMP phosphodiesterase, gamma subunit superfamilyFamilyHomologous superfamily

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.

Drugs

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DrugNameSourceType
DB00203 SildenafilDrugbanksmall molecule
DB00862 VardenafilDrugbanksmall molecule