Aliases for OVOL2 Gene
External Ids for OVOL2 Gene
Previous HGNC Symbols for OVOL2 Gene
Previous GeneCards Identifiers for OVOL2 Gene
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. [provided by RefSeq, Apr 2016]
GeneCards Summary for OVOL2 Gene
OVOL2 (Ovo Like Zinc Finger 2) is a Protein Coding gene. Diseases associated with OVOL2 include Corneal Dystrophy, Posterior Polymorphous, 1 and Congenital Hereditary Endothelial Dystrophy Type I. Gene Ontology (GO) annotations related to this gene include transcription regulatory region DNA binding and RNA polymerase II transcription factor activity, sequence-specific DNA binding. An important paralog of this gene is OVOL1.
UniProtKB/Swiss-Prot for OVOL2 Gene
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).