OVOL2 (Entrez ID: 58495)

Entrez Gene ID 58495
Official Gene Symbol OVOL2 (GeneCards)
Full name ovo like zinc finger 2
Location 20p11.23
Other ids Vega : OTTHUMG00000031960
MIM : 616441
HGNC : HGNC:15804
Ensembl : ENSG00000125850
Other names CHED, CHED1, CHED2, PPCD1, ZNF339, EUROIMAGE566589
Summary 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]

Variants

Found 2 variants in this database.