C1QTNF5

C1q and TNF related 5

Ensembl:
ENSG00000223953
UniProt:
Q9BXJ0
OMIM:
608752
Synonyms:
CTRP5, DKFZP586B0621, LORD

Cilia effects upon perturbation of C1QTNF5

Ciliogenesis screen results (4 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:
abnormal retina morphology; increased fasting circulating glucose level
Human ciliopathy phenotype:
late-onset retinal degeneration

Ciliopathy associations

  • Retinal Dystrophy/Degeneration

Subcellular localization

cilia associated gene

Functional category

  • Metabolism; Motile cilium & axoneme

Function

C1QTNF5 retinopathy is an autosomal dominant LORD resulting in a complex ocular phenotype involving the RPE and ciliary epithelium. SD-OCT findings revealed widespread photoreceptor loss and diffuse choroidal thinning(PMID: 23289492).