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ZEB1

Chr 10p11.22

zinc finger E-box binding homeobox 1

Aliases:
BZP, ZEB, AREB6, NIL-2-A, Zfhep
MANE:
ENST00000424869.6

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
  • Fetal anomalies

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • DDG2P

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Structural eye disease

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

  • Fuchs endothelial corneal dystrophy

    0.75
  • posterior polymorphous corneal dystrophy 3

    0.66
  • posterior polymorphous corneal dystrophy

    0.63
  • corneal dystrophy, Fuchs endothelial, 6

    0.57
  • hereditary disease

    0.47
  • corneal dystrophy

    0.47
  • neurodegenerative disease

    0.35
  • glaucoma

    0.35
  • Visual loss

    0.34
  • ovarian dysfunction

    0.32

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

Protein function (UniProt)

Zinc finger E-box-binding homeobox 1

Acts as a transcriptional repressor. Inhibits interleukin-2 (IL-2) gene expression. Enhances or represses the promoter activity of the ATP1A1 gene depending on the quantity of cDNA and on the cell type. Represses E-cadherin promoter and induces an epithelial-mesenchymal transition (EMT) by recruiting SMARCA4/BRG1. Represses BCL6 transcription in the presence of the corepressor CTBP1. Positively regulates neuronal differentiation. Represses RCOR1 transcription activation during neurogenesis. Represses transcription by binding to the E box (5'-CANNTG-3'). In the absence of TGFB1, acts as a repressor of COL1A2 transcription via binding to the E-box in the upstream enhancer region (By similarity)

Curated MONDO disease pages that list ZEB1 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.