RHO

rhodopsin

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000163914
UniProt:
P08100
OMIM:
180380
Synonyms:
CSNBAD1, OPN2, RP4

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

References: PMID:1303237, PMID:39948682, PMID:8088850, PMID:7987385

Subcellular localization

basal body, cilia

References: PMID:23966685, PMID:32343782

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).