ZEB1 gene

zinc finger E-box binding homeobox 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

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'). Promotes tumorigenicity by repressing stemness-inhibiting microRNAs.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Posterior polymorphous corneal dystrophy 3
  • Corneal dystrophy, Fuchs endothelial, 6

From UniProt:

Corneal dystrophy, posterior polymorphous, 3 (PPCD3): A subtype of posterior corneal dystrophy, a disease characterized by alterations of Descemet membrane presenting as vesicles, opacities or band-like lesions on slit-lamp examination and specular microscopy. Affected patient typically are asymptomatic. [MIM:609141]

Corneal dystrophy, Fuchs endothelial, 6 (FECD6): A corneal disease caused by loss of endothelium of the central cornea. It is characterized by focal wart-like guttata that arise from Descemet membrane and develop in the central cornea, epithelial blisters, reduced vision and pain. Descemet membrane is thickened by abnormal collagenous deposition. [MIM:613270]

Cytogenetic Location: 10p11.22, which is the short (p) arm of chromosome 10 at position 11.22

Molecular Location: base pairs 31,318,417 to 31,529,804 on chromosome 10 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: 10p11.22, which is the short (p) arm of chromosome 10 at position 11.22
  • AREB6
  • BZP
  • FECD6
  • NIL2A
  • PPCD3
  • TCF8
  • ZFHX1A