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