OVOL2

This gene encodes a member of the evolutionarily conserved ovo-like protein family. Mammalian members of this family contain a single zinc finger domain composed of a tetrad of C2H2 zinc fingers with variable N-and C-terminal extensions that contain intrinsically disordered domains. Members of this family are involved in epithelial development and differentiation. Knockout of this gene in mouse results in early embryonic lethality with phenotypes that include neurectoderm expansion, impaired vascularization, and heart anomalies. In humans, allelic variants of this gene have been associated with posterior polymorphous corneal dystrophy.

OVOL2

Zinc-finger transcription repressor factor (PubMed:19700410).
Plays a critical role in maintaining the identity of epithelial lineages by suppressing epithelial-to mesenchymal transition (EMT) mainly through the repression of ZEB1, an EMT inducer (By similarity).
Positively regulates neuronal differentiation (By similarity).
Suppresses cell cycling and terminal differentiation of keratinocytes by directly repressing MYC and NOTCH1 (PubMed:19700410).
Important for the correct development of primordial germ cells in embryos (By similarity).

AngiogenesisIEA:Ensembl
Cellular response to transforming growth factor beta stimulusISS:ARUK-UCL
Dorsal/ventral pattern formationIEA:Ensembl
Embryonic digestive tract morphogenesisIEA:Ensembl
Endocardium formationIEA:Ensembl
Epidermal cell differentiationManual Assertion Based On ExperimentIBA:GO_Central
Heart loopingIEA:Ensembl
Heart trabecula formationIEA:Ensembl
Labyrinthine layer blood vessel developmentIEA:Ensembl
Negative regulation of epithelial to mesenchymal transitionISS:UniProtKB
Negative regulation of gene expressionISS:ARUK-UCL
Negative regulation of keratinocyte differentiationIMP:BHF-UCL
Negative regulation of Notch signaling pathwayIDA:BHF-UCL
Negative regulation of stem cell proliferationIEA:Ensembl
Negative regulation of transcription by competitive promoter bindingIDA:BHF-UCL
Neural crest cell migrationIEA:Ensembl
Neural fold formationIEA:Ensembl
Positive regulation of gene expressionISS:ARUK-UCL
Positive regulation of keratinocyte differentiationIEA:Ensembl
Regulation of cell cycleIMP:BHF-UCL
Regulation of keratinocyte proliferationIMP:BHF-UCL
Regulation of SMAD protein signal transductionISS:ARUK-UCL
Regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIBA:GO_Central

Nucleus

Corneal dystrophy, posterior polymorphous, 1 (PPCD1):
A rare corneal disorder characterized by small aggregates of apparent vesicles bordered by a gray haze at the level of Descemet membrane, an altered corneal endothelial cell structure, and an unusual proliferation of endothelial cells. Symptoms can range from very aggressive to asymptomatic and non-progressive, even within the same family.