| Entrez Gene ID |
58495 (NCBI Gene) |
| Official Gene Symbol |
OVOL2 (GeneCards) |
| Number of variants in OVOL2 in this database |
2 (view all the variants) |
| Full name |
ovo like zinc finger 2 |
| Band |
20p11.23 |
| Other IDs |
Vega:
OTTHUMG00000031960
OMIM:
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] |