OVOL2
Transcription factor Ovo-like 2
Also known as: bA504H3.3, CHED, CHED1, HOVO2, OVOL2_HUMAN, ZNF339
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9BRP0
- Gene
- OVOL2
- Ensembl
- ENSG00000125850
- Chromosome
- 20
- Canonical length
- 275 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors
- Subcellular location
- Nucleoplasm,Cytosol
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
275 residues, UniProt reviewed canonical sequence.
>Q9BRP0|OVOL2
1 MPKVFLVKRR SLGVSVRSWD ELPDEKRADT YIPVGLGRLL HDPPEDCRSD GGSSSGSGSS
61 SAGEPGGAES SSSPHAPESE TPEPGDAEGP DGHLATKQRP VARSKIKFTT GTCSDSVVHS
121 CDLCGKGFRL QRMLNRHLKC HNQVKRHLCT FCGKGFNDTF DLKRHVRTHT GIRPYKCNVC
181 NKAFTQRCSL ESHLKKIHGV QQQYAYKQRR DKLYVCEDCG YTGPTQEDLY LHVNSAHPGS
241 SFLKKTSKKL AALLQGKLTS AHQENTSLSE EEERKLocalizationUniProt · AlphaFold · HPA
Whether an antibody against OVOL2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.51
- Highest tissue expression
- 7.4 nTPM
Expression across tissuesHPA
Tissue
- stomach: 7.4 nTPM
- salivary gland: 6.7 nTPM
- skin: 6.2 nTPM
- esophagus: 4.8 nTPM
- pancreas: 4 nTPM
- prostate: 3.7 nTPM
Single-cell type
- cardiomyocytes: 204 nCPM
- respiratory ciliated cells: 118 nCPM
- prostatic hillock cells: 93 nCPM
- endometrial ciliated cells: 85 nCPM
- prostatic club cells: 84 nCPM
- foveolar cells: 82 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- cerebral cortex: 0.9 nTPM
- basal ganglia: 0.6 nTPM
- white matter: 0.4 nTPM
- pons: 0.3 nTPM
- medulla oblongata: 0.2 nTPM
- amygdala: 0.1 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about OVOL2.
Disease | AllUniProt
Conditions OVOL2 is implicated in, by any mechanism.
- Corneal dystrophy, posterior polymorphous, 1 (PPCD1) MIM:122000
Disease | GeneticClinVar
4 pathogenic / likely-pathogenic of 66 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Posterior polymorphous corneal dystrophy 1
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.57
- gnomAD pLI
- 0.71
- gnomAD missense Z
- 1.09
- DepMap mean gene effect
- -0.05
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- angiogenesis
- cell population proliferation
- dorsal/ventral pattern formation
- embryonic digestive tract morphogenesis
- endocardium formation
- epidermal cell differentiation
- heart looping
- heart trabecula formation
- labyrinthine layer blood vessel development
- negative regulation of epithelial to mesenchymal transition
- negative regulation of gene expression
- negative regulation of keratinocyte differentiation
- negative regulation of Notch signaling pathway
- negative regulation of SMAD protein signal transduction
- negative regulation of stem cell proliferation
- negative regulation of transcription by competitive promoter binding
- negative regulation of transforming growth factor beta receptor signaling pathway
- neural crest cell migration
- neural fold formation
- positive regulation of gene expression
- positive regulation of keratinocyte differentiation
- regulation of cell cycle
- regulation of keratinocyte proliferation
- regulation of transcription by RNA polymerase II
- negative regulation of white fat cell proliferation
Molecular functions
- chromatin binding
- DNA-binding transcription activator activity, RNA polymerase II-specific
- DNA-binding transcription factor activity, RNA polymerase II-specific
- DNA-binding transcription repressor activity, RNA polymerase II-specific
- RNA polymerase II cis-regulatory region sequence-specific DNA binding
- sequence-specific double-stranded DNA binding
- transcription cis-regulatory region binding
- transcription corepressor activity
- zinc ion binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads OVOL2 as an antibody target. Whether an autoantibody or antibody against OVOL2 could matter depends on whether native OVOL2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
OVOL2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label OVOL2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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