OVOL2 Chromosome 20
Ovo like zinc finger 2
Upload your DNA to see your personal genotypes for variants in OVOL2.
What This Gene Does
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]
Gene Info
Gene Group
Zinc fingers C2H2-type
Locus Type
gene with protein product
Location
20p11.23
Ensembl
ENSG00000125850
Associated Conditions (1)
Posterior polymorphous corneal dystrophy 1
Key Variants
RS869320627
Pathogenic
Posterior polymorphous corneal dystrophy 1, Posterior polymorphous corneal dystrophy 1
Health Risk
RS869320628
Pathogenic
Posterior polymorphous corneal dystrophy 1, Posterior polymorphous corneal dystrophy 1
Health Risk
RS869320629
Pathogenic
Posterior polymorphous corneal dystrophy 1, Posterior polymorphous corneal dystrophy 1
Health Risk
RS869320630
Pathogenic
Posterior polymorphous corneal dystrophy 1, Posterior polymorphous corneal dystrophy 1
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS869320627 | Health Risk | Pathogenic | Posterior polymorphous corneal dystrophy 1, Posterior polymorphous corneal dystrophy 1 |
| RS869320628 | Health Risk | Pathogenic | Posterior polymorphous corneal dystrophy 1, Posterior polymorphous corneal dystrophy 1 |
| RS869320629 | Health Risk | Pathogenic | Posterior polymorphous corneal dystrophy 1, Posterior polymorphous corneal dystrophy 1 |
| RS869320630 | Health Risk | Pathogenic | Posterior polymorphous corneal dystrophy 1, Posterior polymorphous corneal dystrophy 1 |