Entity Details

Primary name OVOL2
Entity type gene
Source Source Link

Details

PrimaryID58495
RefseqGeneNG_046859
SymbolOVOL2
Nameovo like zinc finger 2
Chromosome20
Location20p11.23
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-10-09
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsOVOL2_HUMAN

GO terms

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GOName
GO:0000976 transcription cis-regulatory region binding
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific
GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific
GO:0001525 angiogenesis
GO:0001755 neural crest cell migration
GO:0001842 neural fold formation
GO:0001947 heart looping
GO:0003682 chromatin binding
GO:0005634 nucleus
GO:0006357 regulation of transcription by RNA polymerase II
GO:0009913 epidermal cell differentiation
GO:0009953 dorsal/ventral pattern formation
GO:0010628 positive regulation of gene expression
GO:0010629 negative regulation of gene expression
GO:0010719 negative regulation of epithelial to mesenchymal transition
GO:0010837 regulation of keratinocyte proliferation
GO:0010944 negative regulation of transcription by competitive promoter binding
GO:0045617 negative regulation of keratinocyte differentiation
GO:0045618 positive regulation of keratinocyte differentiation
GO:0045746 negative regulation of Notch signaling pathway
GO:0046872 metal ion binding
GO:0048557 embryonic digestive tract morphogenesis
GO:0051726 regulation of cell cycle
GO:0060214 endocardium formation
GO:0060347 heart trabecula formation
GO:0060390 regulation of SMAD protein signal transduction
GO:0060716 labyrinthine layer blood vessel development
GO:0071560 cellular response to transforming growth factor beta stimulus
GO:1990837 sequence-specific double-stranded DNA binding
GO:2000647 negative regulation of stem cell proliferation

Diseases

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Disease IDSourceNameDescription
122000 OMIMCorneal dystrophy, posterior polymorphous, 1 (PPCD1)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. 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.

Interactions

6 interactions

InteractorPartnerSourcesPublicationsLink
OVOL2ZNF526BioGRID, IntAct32296183 details
OVOL2PARP1BioGRID30542118 details
OVOL2HDAC1BioGRID30542118 details
OVOL2BAG3BioGRID23824909 details
OVOL2NKX2-1BioGRID28192407 details
OVOL2TRIM25BioGRID29117863 details