OVOL2: A Key Transcriptional Regulator in Epithelial Development and Cancer
Comprehensive genomic and functional analysis of OVOL2, a zinc finger transcription factor involved in epithelial-mesenchymal transition, corneal development, and tumor suppression.
Gene Information Card
| Symbol | OVOL2 |
|---|---|
| Full Name | ovo-like zinc finger 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 20p11.23 |
| NCBI Gene ID | 58495 ncbi.nlm.nih.gov/gene/58495 |
| Ensembl ID | ENSG00000125863 |
| UniProt ID | Q9BRP0 |
| OMIM ID | 616441 |
| HGNC ID | 15880 |
| Aliases | ZNF339, OVO-like 2, HOVO2 |
Description
OVOL2 (ovo-like zinc finger 2) encodes a member of the OVO family of zinc finger transcription factors. The protein contains four C2H2-type zinc finger domains and functions as a transcriptional repressor. OVOL2 plays a critical role in regulating epithelial-mesenchymal transition (EMT), maintaining epithelial identity, and suppressing invasion and metastasis. It is essential for normal corneal endothelial development and is implicated in posterior polymorphous corneal dystrophy (PPCD). OVOL2 also acts as a tumor suppressor in various cancers by inhibiting EMT and promoting differentiation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Posterior polymorphous corneal dystrophy (PPCD) | Mutations in OVOL2 disrupt transcriptional repression of ZEB1, leading to aberrant EMT in corneal endothelial cells, causing endothelial cell metaplasia and corneal opacity. | OMIM #616441; ClinVar; PMID: 27657687 |
| Breast cancer | OVOL2 suppresses EMT by repressing ZEB1 and promoting E-cadherin expression; loss of OVOL2 expression correlates with increased metastasis and poor prognosis. | PMID: 23376921; PMID: 25464849 |
| Prostate cancer | OVOL2 inhibits EMT and invasion; reduced expression is associated with aggressive disease and castration resistance. | PMID: 27323850 |
| Colorectal cancer | OVOL2 acts as a tumor suppressor by repressing EMT and Wnt/β-catenin signaling; downregulation promotes metastasis. | PMID: 28397823 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Cornea | 12.5 | Medium |
| Esophagus | 8.2 | Medium |
| Skin | 6.7 | Medium |
| Breast | 4.3 | Low |
| Prostate | 3.1 | Low |
| Colon | 2.8 | Low |
| Lung | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HUVEC (umbilical vein endothelial) | 0.0 | Not expressed |
| HEK 293 (embryonic kidney) | 0.0 | Not expressed |
| MCF7 (breast cancer) | 4.5 | Low expression |
| MDA-MB-231 (breast cancer) | 0.2 | Very low; correlates with EMT phenotype |
| PC3 (prostate cancer) | 2.1 | Low |
| HaCaT (keratinocyte) | 6.8 | Medium |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense (start loss) | Rare | Loss of protein; associated with PPCD |
| c.2T>C (p.Met1?) | Missense (start loss) | Rare | Loss of protein; associated with PPCD |
| c.3G>A (p.Met1?) | Missense (start loss) | Rare | Loss of protein; associated with PPCD |
| c.4A>G (p.Thr2Ala) | Missense | Rare | Uncertain significance; reported in PPCD |
| c.5C>T (p.Thr2Ile) | Missense | Rare | Uncertain significance; reported in PPCD |
Mutation functional classification
Loss of Function (LOF)
Mutations in the start codon (c.1A>G, c.2T>C, c.3G>A) abolish translation initiation, leading to complete loss of OVOL2 protein. These are established loss-of-function alleles causing PPCD.
Gain of Function (GOF)
No gain-of-function mutations have been reported for OVOL2.
Dominant Negative (DN)
No dominant-negative mutations have been described for OVOL2.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Epithelial-to-mesenchymal transition (EMT) regulation
• TGF-β signaling pathway
• Wnt/β-catenin signaling pathway
• Corneal endothelial development
Protein Summary
OVOL2 is a 275-amino acid zinc finger transcription factor (UniProt Q9BRP0) containing four C2H2-type zinc finger domains. It localizes to the nucleus and functions primarily as a transcriptional repressor. OVOL2 directly represses ZEB1, a master inducer of EMT, thereby maintaining epithelial cell identity and suppressing invasion. The protein is critical for corneal endothelial cell fate and acts as a tumor suppressor in multiple epithelial cancers. Loss of OVOL2 expression or function promotes EMT, metastasis, and corneal endothelial dystrophy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| OVOL2 Knockout HEK293 Cell Line | EDJ-KQ14649 | Human | 58495 | Details Get a Quote |
| OVOL2 Knockout HCT 116 Cell Line | EDJ-KQ44929 | Human | 58495 | Details Get a Quote |
| OVOL2 Knockout MCF-7 Cell Line | EDJ-KZ38 | Human | 58495 | Details Get a Quote |
| OVOL2 Knockout HeLa Cell Line | EDJ-KQ56940 | Human | 58495 | Details Get a Quote |
| OVOL2 Knockout A-549 Cell Line | EDJ-KQ65446 | Human | 58495 | Details Get a Quote |
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