GLIS2

GLIS family zinc finger 2

Ensembl:
ENSG00000126603, ENSG00000274636
UniProt:
Q9BZE0
OMIM:
608539
Synonyms:
NPHP7

Cilia effects upon perturbation of GLIS2

Ciliogenesis screen results (5 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-6.83) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381
  • Kim et al. 2010 (siRNA) [siRNA]: Longer Cilia (Area per Cilia z=2.46) PMID:20393562

Ciliopathy associations

  • Nephronophthisis

Subcellular localization

basal body, nucleus

Functional category

  • Ciliary assembly/disassembly
  • Cell migration & adhesion
  • Transcription regulation

Function

Bifunctio l transcriptio l regulator, either as an activator and a repressor (11741991). Repressor of Hh sig ling. Loss of function causes nephronophthisis-like phenotype (27181777). Involved in epithelial-to- mesenchymal transition, fibrosis and apoptosis. Together with BBS1, GLIS2 (also called NPHP7) is required for normal ciliary motility, responsible for body assymmetry (24069149).

Model organism evidence

Mus musculus (5 references)

The existence of a cilia-dependent cyst activation pathway has been identified by showing that structurally intact primary cilia are crucial for rapid cyst growth following loss of polycystins.

Although nearly all NPHP genes encode ciliary proteins, classifying NPH as a renal ciliopathy, there is evidence for a pathogenic role of a compromised DNA damage response (DDR).

PMIDs: 41563804, 40713016, 40661540, 38693102, 27181777