RHO
rhodopsin
- Ensembl:
- ENSG00000163914
- UniProt:
- P08100
- OMIM:
- 180380
- Synonyms:
- CSNBAD1, OPN2, RP4
Cilia effects upon perturbation of RHO
Ciliogenesis screen results (4 screens)
- Kim2016: No effect
- Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-5.29) PMID:26167766
- Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
- Roosing et al. 2015 (siRNA) [siRNA]: Joubert Candidate / Ciliogenesis Defect (robust z=-2.66, ciliated=17.3%) PMID:26595381
Phenotypes
- Human ciliopathy phenotype:
- retinitis pigmentosa
Ciliopathy associations
- Retinal Dystrophy/Degeneration
Subcellular localization
basal body, cilia
Functional category
- Ciliary assembly/disassembly
- Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
- Reproduction & sperm
- Protein processing & maturation
- Signaling (Hedgehog, GPCRs, ion channels)
- Ciliary membrane
Function
Cilia-specific GPCR essential for vision. Multiple roles in trafficking, interacts with Arf4, TcTex-1 and SARA (23966685). Mutations cause protein misfolding and retention in the endoplasmic reticulum, leading to cellular stress and cell death. Mutations are associated with retinitis pigmentosa (32343782).
Model organism evidence
Xenopus (1 reference)
Integrative Functional Genomics Identifies ARHGAP10 in the 4q31.2 Locus as a Novel Congenital Heart Disease and Ciliopathy Gene.
PMIDs: 41280016