EMX2
empty spiracles homeobox 2
- 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
cilia associated gene, nucleoplasm, nucleus
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).
Model organism evidence
Mus musculus (1 reference)
Directional sensitivity of hair cells (HCs) is conferred by the aymmetric apical hair bundle, comprised of a kinocilium and stereocilia staircase.
PMIDs: 32965215