RFX7

regulatory factor X7

Ensembl:
ENSG00000181827
UniProt:
Q2KHR2
OMIM:
612660
Synonyms:
FLJ12994, RFXDC2

Cilia effects upon perturbation of RFX7

Cilia number / % ciliated:
Decreased cilia number
Loss-of-function effect:
Shorter cilia

Ciliogenesis screen results (2 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Mouse phenotype:
decreased fasting circulating glucose level, preweaning lethality, incomplete penetrance, decreased locomotor activity
Mouse ciliopathy phenotype:
abnormal reti morphology

Subcellular localization

cilia, nucleus

Functional category

  • Ciliary assembly/disassembly

Function

Highly expressed in Brain. RFX7 controls positively the formation of cilia by regulating the expression of RFX4 gene. Involved in complete neural tube closure (24530844).

Model organism evidence

Xenopus (1 reference)

While seven RFX genes have been identified in vertebrates and several RFX transcription factors have been reported to be regulators of ciliogenesis, the role of RFX7 in development including ciliogenesis is not known.

PMIDs: 24530844