OVOL2
entrez
58495
canonical
uniprot
Q9BRP0
canonical
ensembl
ENSG00000125850
resolver
ensp
ENSP00000278780
resolver
genesymbol
OVOL2
resolver
genesymbol_syn
ZNF339
resolver
hgnc
HGNC:15804
resolver
uniprot
Q5T8B4
resolver
uniprot
Q9BX22
resolver
uniprot
Q9HA54
resolver
uniprot
Q9Y4M0
resolver
uniprot_entry
OVOL2_HUMAN
resolver
uniprot_sec
Q5T8B4
resolver
uniprot_sec
Q9BX22
resolver
uniprot_sec
Q9HA54
resolver
uniprot_sec
Q9Y4M0
resolver
amino_acid_sequence
MPKVFLVKRRSLGVSVRSWDELPDEKRADTYIPVGLGRLLHDPPEDCRSDGGSSSGSGSSSAGEPGGAESSSSPHAPESETPEPGDAEGPDGHLATKQRPVARSKIKFTTGTCSDSVVHSCDLCGKGFRLQRMLNRHLKCHNQVKRHLCTFCGKGFNDTFDLKRHVRTHTGIRPYKCNVCNKAFTQRCSLESHLKKIHGVQQQYAYKQRRDKLYVCEDCGYTGPTQEDLYLHVNSAHPGSSFLKKTSKKLAALLQGKLTSAHQENTSLSEEEERK
uniprot
proteins
disease_involvement
DISEASE: Corneal dystrophy, posterior polymorphous, 1 (PPCD1) [MIM:122000]: 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. {ECO:0000269|PubMed:26749309}. Note=The disease is caused by variants affecting the gene represented in this entry. Disease-causing mutations in the OVOL2 promoter alter promoter activity, dysregulate OVOL2 expression, and probably induce OVOL2 ectopic expression in the corneal endothelium. {ECO:0000269|PubMed:26749309}.
uniprot
proteins
function
FUNCTION: 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). Plays dual functions in thermogenesis and adipogenesis to maintain energy balance. Essential for brown/beige adipose tissue-mediated thermogenesis, is necessary for the development of brown adipocytes. In white adipose tissues, limits adipogenesis by blocking CEBPA binding to its transcriptional targets and inhibiting its transcription factor activity (By similarity). {ECO:0000250|UniProtKB:Q8CIV7, ECO:0000269|PubMed:19700410}.
uniprot
proteins
mass_dalton
30438
uniprot
proteins
protein_family
Krueppel C2H2-type zinc-finger protein family
uniprot
proteins
pubmed
11780052
uniprot
proteins
pubmed
12213202
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19700410
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
26749309
uniprot
proteins
sequence_length
275
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q8CIV7}.
uniprot
proteins