STAG2

STAG2 cohesin complex component

Ensembl:
ENSG00000101972
UniProt:
Q8N3U4
Synonyms:
SA-2, SA2, SCC3B

Cilia effects upon perturbation of STAG2

Ciliogenesis screen results (4 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-1.45) PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Ciliopathy associations

  • Holoprosencephaly

Subcellular localization

cilia associated gene, cytosol, nucleus

Functional category

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

Function

Mutations in the STAG2 gene cause Holoprosencephaly (PMID: 31334757).