EMX2

empty spiracles homeobox 2

Tier: Cilia-Associated Genes

Ensembl:
ENSG00000170370
UniProt:
Q04743
OMIM:
600035

Cilia effects upon perturbation of EMX2

Cilia number / % ciliated:
Decreased cilia number

Ciliogenesis screen results (4 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-6.70) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Subcellular localization

nucleoplasm, nucleus

References: PMID:33718363

Functional category

  • Metabolism; Trafficking (BBSome, small GTPases, vesicular transport, ATPases)

Function

An essential regulator of ciliated cell development across multiple embryonic tissues (ear, kidney, neuromasts, Kupffer's vesicle). Deficiency leads to kidney defects (decreased MCCs) and aberrant basal body positioning(39687012).