UFSP2

UFM1 specific peptidase 2

Ensembl:
ENSG00000109775
UniProt:
Q9NUQ7
OMIM:
611482
Synonyms:
C4ORF20, FLJ11200

Cilia effects upon perturbation of UFSP2

Ciliogenesis screen results (2 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: Increased Signaling (Negative Regulator) PMID:29459680

Phenotypes

Mouse phenotype:
hemorrhage, embryonic lethality prior to organogenesis, preweaning lethality, complete penetrance, pretal lethality prior to heart atrial septation, spi bifida
Human ciliopathy phenotype:
Intellectual disability

Subcellular localization

cilia, nucleus

Functional category

  • Ciliary assembly/disassembly
  • Signaling (Hedgehog, GPCRs, ion channels)

Function

A subset of these receptors, such as ODR-10, requires the odr-4 and odr-8 genes to be appropriately localized to sensory cilia (24603482)