OTX2

orthodenticle homeobox 2

Tier: Cilia-Associated Genes

Ensembl:
ENSG00000165588
UniProt:
P32243
OMIM:
600037

Ciliogenesis screen results (4 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-3.11) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Human ciliopathy phenotype:
syndromic microphthalmia type 5; anophthalmia-microphthalmia syndrome

Ciliopathy associations

  • Medulloblastoma
  • Retinal Dystrophy/Degeneration

References: PMID:30797919, PMID:19956411

Subcellular localization

nucleus

Functional category

  • Ciliary assembly/disassembly
  • Neurogenesis & migration
  • Signaling (Hedgehog, GPCRs, ion channels)
  • Axon guidance & growth

Function

Mutations in the OTX2 gene cause Medulloblastoma (PMID: 30797919).