OVOL2 gene

ovo like zinc finger 2

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

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).

From NCBI Gene:

  • Posterior polymorphous corneal dystrophy 1

From UniProt:

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. [MIM:122000]

Cytogenetic Location: 20p11.23, which is the short (p) arm of chromosome 20 at position 11.23

Molecular Location: base pairs 18,024,152 to 18,059,188 on chromosome 20 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: 20p11.23, which is the short (p) arm of chromosome 20 at position 11.23
  • CHED
  • CHED1
  • CHED2
  • EUROIMAGE566589
  • PPCD1
  • ZNF339