Entity Details

Primary name RHO
Entity type gene
Source Source Link

Details

PrimaryID6010
RefseqGeneNG_009115
SymbolRHO
Namerhodopsin
Chromosome3
Location3q22.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-01-22
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsOPSD_HUMAN

GO terms

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GOName
GO:0000139 Golgi membrane
GO:0001523 retinoid metabolic process
GO:0001750 photoreceptor outer segment
GO:0001917 photoreceptor inner segment
GO:0004930 G protein-coupled receptor activity
GO:0005502 11-cis retinal binding
GO:0005794 Golgi apparatus
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0005911 cell-cell junction
GO:0006468 protein phosphorylation
GO:0007186 G protein-coupled receptor signaling pathway
GO:0007601 visual perception
GO:0007602 phototransduction
GO:0007603 phototransduction, visible light
GO:0008020 G protein-coupled photoreceptor activity
GO:0016021 integral component of membrane
GO:0016038 absorption of visible light
GO:0016056 rhodopsin mediated signaling pathway
GO:0018298 protein-chromophore linkage
GO:0022400 regulation of rhodopsin mediated signaling pathway
GO:0030660 Golgi-associated vesicle membrane
GO:0042622 photoreceptor outer segment membrane
GO:0043052 thermotaxis
GO:0045494 photoreceptor cell maintenance
GO:0046872 metal ion binding
GO:0050960 detection of temperature stimulus involved in thermoception
GO:0060041 retina development in camera-type eye
GO:0060170 ciliary membrane
GO:0060271 cilium assembly
GO:0060342 photoreceptor inner segment membrane
GO:0071482 cellular response to light stimulus
GO:0097225 sperm midpiece
GO:0097381 photoreceptor disc membrane
GO:1990913 sperm head plasma membrane

Diseases

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Disease IDSourceNameDescription
613731 OMIMRetinitis pigmentosa 4 (RP4)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.
610445 OMIMNight blindness, congenital stationary, autosomal dominant 1 (CSNBAD1)A non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia. The disease is caused by variants affecting the gene represented in this entry.