ZEB1 Chromosome 10
Zinc finger E-box binding homeobox 1
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What This Gene Does
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]
Gene Info
Gene Group
"Zinc fingers C2H2-type|ZF class homeoboxes and pseudogenes"
Locus Type
gene with protein product
Location
10p11.22
Ensembl
ENSG00000148516
Associated Conditions (9)
Corneal dystrophy
Fuchs endothelial
6
Inborn genetic diseases
Posterior polymorphous corneal dystrophy
Posterior polymorphous corneal dystrophy 1
Glaucoma
Visual loss
Posterior polymorphous corneal dystrophy 3
Key Variants
RS118020901
Conflicting classifications of pathogenicity
Corneal dystrophy, Fuchs endothelial, 6
Health Risk
RS143370284
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS78449005
Conflicting classifications of pathogenicity
Health Risk
RS2069829602
Likely pathogenic
Corneal dystrophy, Fuchs endothelial, 6
Health Risk
RS2139506946
Likely pathogenic
Posterior polymorphous corneal dystrophy, Posterior polymorphous corneal dystrophy
Health Risk
RS2139622959
Likely pathogenic
Posterior polymorphous corneal dystrophy 1, Posterior polymorphous corneal dystrophy 1
Health Risk
RS2543952522
Likely pathogenic
Corneal dystrophy, Fuchs endothelial, 6
Health Risk
RS2544005148
Likely pathogenic
Health Risk
RS1057518956
Pathogenic
Glaucoma, Visual loss, Posterior polymorphous corneal dystrophy
Health Risk
RS1458928910
Pathogenic
Posterior polymorphous corneal dystrophy 3, Posterior polymorphous corneal dystrophy 3
Health Risk
RS1554930679
Pathogenic
Health Risk
RS1592090713
Pathogenic
Health Risk
All Variants (27)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS118020901 | Health Risk | Conflicting classifications of pathogenicity | Corneal dystrophy, Fuchs endothelial, 6 |
| RS143370284 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS78449005 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2069829602 | Health Risk | Likely pathogenic | Corneal dystrophy, Fuchs endothelial, 6 |
| RS2139506946 | Health Risk | Likely pathogenic | Posterior polymorphous corneal dystrophy, Posterior polymorphous corneal dystrophy |
| RS2139622959 | Health Risk | Likely pathogenic | Posterior polymorphous corneal dystrophy 1, Posterior polymorphous corneal dystrophy 1 |
| RS2543952522 | Health Risk | Likely pathogenic | Corneal dystrophy, Fuchs endothelial, 6 |
| RS2544005148 | Health Risk | Likely pathogenic | — |
| RS1057518956 | Health Risk | Pathogenic | Glaucoma, Visual loss, Posterior polymorphous corneal dystrophy |
| RS1458928910 | Health Risk | Pathogenic | Posterior polymorphous corneal dystrophy 3, Posterior polymorphous corneal dystrophy 3 |
| RS1554930679 | Health Risk | Pathogenic | — |
| RS1592090713 | Health Risk | Pathogenic | — |
| RS1592143384 | Health Risk | Pathogenic | Posterior polymorphous corneal dystrophy 3, Posterior polymorphous corneal dystrophy 3 |
| RS2139794959 | Health Risk | Pathogenic | Posterior polymorphous corneal dystrophy 3, Posterior polymorphous corneal dystrophy 3 |
| RS2538531589 | Health Risk | Pathogenic | Posterior polymorphous corneal dystrophy 3, Posterior polymorphous corneal dystrophy 3 |
| RS2543401310 | Health Risk | Pathogenic | — |
| RS2543953717 | Health Risk | Pathogenic | — |
| RS2543987968 | Health Risk | Pathogenic | — |
| RS2543993592 | Health Risk | Pathogenic | Corneal dystrophy, Corneal dystrophy |
| RS2544006774 | Health Risk | Pathogenic | — |
| RS766305306 | Health Risk | Pathogenic | Corneal dystrophy, Corneal dystrophy |
| RS772364498 | Health Risk | Pathogenic | — |
| RS774973367 | Health Risk | Pathogenic | — |
| RS779148597 | Health Risk | Pathogenic | Corneal dystrophy, Fuchs endothelial, 6 |
| RS1554797626 | Health Risk | Pathogenic/Likely pathogenic | Posterior polymorphous corneal dystrophy 3, Corneal dystrophy, Fuchs endothelial |
| RS2543770473 | Health Risk | Pathogenic/Likely pathogenic | Posterior polymorphous corneal dystrophy 3, Posterior polymorphous corneal dystrophy 3 |
| RS2543968405 | Health Risk | Pathogenic/Likely pathogenic | Corneal dystrophy, Fuchs endothelial, 6 |