RAD21

RAD21 cohesin complex component

Ensembl:
ENSG00000164754
UniProt:
O60216
OMIM:
606462
Synonyms:
HHR21, KIAA0078, SCC1

Cilia effects upon perturbation of RAD21

Ciliogenesis screen results (5 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-6.68) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-3.27) PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381
  • Kim et al. 2010 (siRNA) [siRNA]: Shorter Cilia (Area per Cilia z=-3.20) PMID:20393562

Ciliopathy associations

  • Cornelia de Lange Syndrome

Subcellular localization

cilia associated gene, cytosol, microtubules, nucleus

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation
  • Signaling (Hedgehog, GPCRs, ion channels)
  • Transcription regulation

Function

Mutations in the RAD21 gene cause Cornelia de Lange Syndrome (PMID: 22633399).