OVOL2

Chr 20

ovo like zinc finger 2

Also known as: CHED, CHED1, CHED2, EUROIMAGE566589, PPCD1, ZNF339

NCBI Gene: 58495 ENSG00000125850 UniProt: Q9BRP0

OVOL2 encodes a zinc-finger transcription repressor that maintains epithelial cell identity by suppressing epithelial-to-mesenchymal transition and regulates neuronal differentiation, keratinocyte cycling, and adipose tissue development. Mutations cause posterior polymorphous corneal dystrophy type 1, an autosomal dominant condition affecting corneal endothelial cells. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.567), suggesting some tolerance to haploinsufficiency.

ResearchSummary from RefSeq, OMIM, UniProt

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtCorneal dystrophy, posterior polymorphous, 1

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.57

LOEUF

LOF

Mechanism· predicted

Some data sources returned errors (1)

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