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OVOL2

Chr 20p11.23

ovo like zinc finger 2

Aliases:
bA504H3.3, HOVO2, CHED
MANE:
ENST00000278780.7

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Corneal abnormalities

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Corneal dystrophy

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

  • posterior polymorphous corneal dystrophy 1

    0.64
  • posterior polymorphous corneal dystrophy

    0.60
  • DNA methylation

    0.25
  • breast cancer

    0.10
  • breast carcinoma

    0.10
  • cancer

    0.09
  • hepatocellular carcinoma

    0.08
  • nasopharyngeal carcinoma

    0.08
  • non-small cell lung carcinoma

    0.08
  • neoplasm

    0.07

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Transcription factor Ovo-like 2

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)

Curated MONDO disease pages that list OVOL2 among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.