RFX7

regulatory factor X7

Tier: Gold Standard Ciliary Genes

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

Subcellular localization

cilia, nucleus

References: PMID:24530844

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).