ZEB1

Chr 10

zinc finger E-box binding homeobox 1

Also known as: AREB6, BZP, DELTAEF1, FECD6, NIL2A, PPCD3, TCF8, ZFHEP

NCBI Gene: 6935 ENSG00000148516 UniProt: P37275

This zinc finger transcription factor acts as a transcriptional repressor, inhibiting interleukin-2 gene expression and regulating epithelial-mesenchymal transition and neuronal differentiation. Mutations cause autosomal dominant corneal dystrophies including Fuchs endothelial corneal dystrophy and posterior polymorphous corneal dystrophy. The gene is highly constrained against loss-of-function variants, indicating that such mutations are likely to be pathogenic.

ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a zinc finger transcription factor. The encoded protein likely plays a role in transcriptional repression of interleukin 2. Mutations in this gene have been associated with posterior polymorphous corneal dystrophy-3 and late-onset Fuchs endothelial corneal dystrophy. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Mar 2010]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtCorneal dystrophy, posterior polymorphous, 3

UniProtCorneal dystrophy, Fuchs endothelial, 6

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

451

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.32

LOEUF· LoF intol.

LOF

Mechanism· G2P

Some data sources returned errors (1)