RHO Gene Summary [Human]
The protein encoded by this gene is found in rod cells in the back of the eye and is essential for vision in low-light conditions. The encoded protein binds to 11-cis retinal and is activated when light hits the retinal molecule. Defects in this gene are a cause of congenital stationary night blindness. [provided by RefSeq, Aug 2017]
Details
| Type | Protein Coding |
| Official Symbol | RHO |
| Official Name | rhodopsin [Source:HGNC Symbol;Acc:HGNC:10012] |
| Ensembl ID | ENSG00000163914 |
| Bio databases IDs | |
| Aliases | rhodopsin, opsin 2, rod pigment |
| Synonyms | CSNBAD1, Noerg1, OPN2, Ops, Rhodopsin, RP4 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human RHO often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- G-protein coupled receptor
- G-protein coupled photoreceptor
- Cholecystokinin A receptor, N-terminal
- Amino terminal of the G-protein receptor rhodopsin
- spectrin binding
- 11-cis retinal binding
- protein binding
- seven-transmembrane G protein-coupled receptor superfamily
- phosphorylation site
- transmembrane domain
- 7 transmembrane receptor (rhodopsin family)
- retinal binding
- cytosolic tail domain
Pathways
Biological processes and signaling networks where the RHO gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neurodegeneration
- retinal dystrophy
- autosomal dominant retinitis pigmentosa
- retinitis pigmentosa type 4
- retinitis pigmentosa
- autosomal recessive retinitis pigmentosa
- autosomal dominant congenital stationary night blindness type 1
- retinitis punctata albescens
- retinal degeneration
- visual disturbance
role in cell
- cell viability
- migration
- apoptosis
- activation in
- damage in
- cell death
- growth
- quantity
- formation
- length
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- membrane fraction
- cilia
- cellular membrane
- Golgi Apparatus
- intercellular junctions
- connecting cilia
- apical membrane
- plasma membrane projections
- Golgi membrane
- sperm midpiece
- photoreceptor outer segments
- photoreceptor inner segments
- rough endoplasmic reticulum membrane
- membrane processes
- perikaryon
- axons
- dendrites
- rod outer segments
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human RHO gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- G-protein coupled receptor signaling pathway
- response to light intensity
- microtubule cytoskeleton organization
- visual perception
- phototransduction
- detection of temperature stimulus involved in thermoception
- cellular response to light stimulus
- phototransduction, visible light
- thermotaxis
- photoreceptor cell maintenance
- gene expression
- rhodopsin mediated signaling pathway
- absorption of visible light
- podosome assembly
Cellular Component
Where in the cell the gene product is active
- photoreceptor inner segment membrane
- Golgi apparatus
- Golgi membrane
- plasma membrane
- photoreceptor outer segment membrane
- photoreceptor outer segment
- cell-cell junction
- sperm midpiece
- membrane
- Golgi-associated vesicle membrane
- cilium membrane
- photoreceptor inner segment
Molecular Function
What the gene product does at the molecular level
- G-protein coupled receptor activity
- 11-cis retinal binding
- protein binding
- metal ion binding
- G-protein coupled photoreceptor activity