DERL2

derlin 2

Tier: Cilia-Associated Genes

Ensembl:
ENSG00000072849
UniProt:
Q9GZP9
OMIM:
610304
Synonyms:
CGI-101, DERLIN-2, F-LAN-1, F-LANA, FLANA

Ciliogenesis screen results (4 screens)

  • Kim2016: No effect
  • Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: Negative Regulator (Hh signaling, casTLE effect=1.16) PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:
preweaning lethality; complete penetrance

Subcellular localization

endoplasmic reticulum

References: PMID:41291844

Functional category

  • Motile cilium & axoneme

Function

Introduction of the SCNM1 WT protein into SCNM1−/− cells restored the expression of TMEM107, CIBAR1, DERL2, ZC3H8 and C17orf75, both at the transcript and protein levels, as well as the ciliary defects associated with the loss of SCNM1 (FPMID: 41291844).