PITX2

paired like homeodomain 2

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000164093
UniProt:
Q99697
OMIM:
601542
Synonyms:
ARP1, BRX1, IGDS, IHG2, IRID2, OTLX2, RGS, RIEG, RIEG1, RS

Ciliogenesis screen results (5 screens)

  • Kim2016: No effect
  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-4.74) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: Hyper-ciliogenesis (robust z=2.72, ciliated=58.5%) PMID:26595381
  • Kim et al. 2010 (siRNA) [siRNA]: Longer Cilia (Area per Cilia z=3.69) PMID:20393562

Phenotypes

Mouse phenotype:
preweaning lethality, complete penetrance, pretal lethality, cornea opacity, increased grip strength, irregularly shaped pupil, abnormal tooth morphology, abnormal optic disk morphology
Human ciliopathy phenotype:
anterior segment dysgenesis 4; anterior segment dysgenesis

Subcellular localization

nucleus, ciliary tip

References: PMID:41005307, PMID:27520585

Functional category

  • Ciliary assembly/disassembly
  • Cell migration & adhesion
  • Cardiac & muscle development
  • Transcription regulation

Function

The role of PITX2 in glaucoma may be mediated partly by regulating the expression of CXCL6 and BBS5 and thus affecting immune functions and intraocular pressure ( 27520585).