ZEB2 Chromosome 2
Zinc finger E-box binding homeobox 2
Upload your DNA to see your personal genotypes for variants in ZEB2.
What This Gene Does
The protein encoded by this gene is a member of the Zfh1 family of 2-handed zinc finger/homeodomain proteins. It is located in the nucleus and functions as a DNA-binding transcriptional repressor that interacts with activated SMADs. Mutations in this gene are associated with Hirschsprung disease/Mowat-Wilson syndrome. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Jan 2010]
Gene Info
Gene Group
"Zinc fingers C2H2-type|ZF class homeoboxes and pseudogenes"
Locus Type
gene with protein product
Location
2q22.3
Ensembl
ENSG00000169554
Associated Conditions (12)
Mowat-Wilson syndrome
Inborn genetic diseases
ZEB2-related disorder
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
Abnormal brain morphology
Smith-Magenis Syndrome-like
Marfanoid habitus and intellectual disability
Intellectual disability
See cases
Neurodevelopmental disorder
Neurodevelopmental delay
Abnormality of the nervous system
Key Variants
RS1057518371
Conflicting classifications of pathogenicity
Mowat-Wilson syndrome, Inborn genetic diseases, Mowat-Wilson syndrome
Health Risk
RS1057520175
Conflicting classifications of pathogenicity
Mowat-Wilson syndrome, Mowat-Wilson syndrome
Health Risk
RS1057522108
Conflicting classifications of pathogenicity
Mowat-Wilson syndrome, Mowat-Wilson syndrome
Health Risk
RS1057522361
Conflicting classifications of pathogenicity
Mowat-Wilson syndrome, Inborn genetic diseases, Mowat-Wilson syndrome
Health Risk
RS1239666726
Conflicting classifications of pathogenicity
Mowat-Wilson syndrome, Mowat-Wilson syndrome
Health Risk
RS1242134764
Conflicting classifications of pathogenicity
Mowat-Wilson syndrome, Mowat-Wilson syndrome
Health Risk
RS1250217464
Conflicting classifications of pathogenicity
Mowat-Wilson syndrome, Mowat-Wilson syndrome
Health Risk
RS1255855620
Conflicting classifications of pathogenicity
Mowat-Wilson syndrome, Inborn genetic diseases, Mowat-Wilson syndrome
Health Risk
RS1276023381
Conflicting classifications of pathogenicity
Mowat-Wilson syndrome, ZEB2-related disorder, Mowat-Wilson syndrome
Health Risk
RS1290033369
Conflicting classifications of pathogenicity
Mowat-Wilson syndrome, Mowat-Wilson syndrome
Health Risk
RS1360979536
Conflicting classifications of pathogenicity
Mowat-Wilson syndrome, Mowat-Wilson syndrome
Health Risk
RS1372526467
Conflicting classifications of pathogenicity
Mowat-Wilson syndrome, Inborn genetic diseases, Mowat-Wilson syndrome
Health Risk
All Variants (428)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS886044396 | Health Risk | Likely pathogenic | — |
| RS1015026440 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS1057518156 | Health Risk | Pathogenic | — |
| RS1057518185 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS1057518193 | Health Risk | Pathogenic | — |
| RS1060503990 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS111724246 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS1131691309 | Health Risk | Pathogenic | — |
| RS1131691714 | Health Risk | Pathogenic | — |
| RS1131691756 | Health Risk | Pathogenic | — |
| RS1131691912 | Health Risk | Pathogenic | — |
| RS1135401790 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS1226638635 | Health Risk | Pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS1314954470 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS137852980 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS137852981 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS137852982 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS137852983 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS1553960776 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS1553960778 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS1553960793 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS1553961343 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS1553961487 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS1553961510 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS1553961516 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1553961580 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS1553961585 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS1553961598 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS1553961610 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS1553961655 | Health Risk | Pathogenic | — |
| RS1553961660 | Health Risk | Pathogenic | — |
| RS1553961695 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS1553961697 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1553961702 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Inborn genetic diseases, Mowat-Wilson syndrome |
| RS1553961705 | Health Risk | Pathogenic | — |
| RS1553961746 | Health Risk | Pathogenic | — |
| RS1553961749 | Health Risk | Pathogenic | — |
| RS1553961777 | Health Risk | Pathogenic | — |
| RS1553962048 | Health Risk | Pathogenic | — |
| RS1553962069 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS1553962198 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS1553964147 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS1553971826 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS1560602156 | Health Risk | Pathogenic | — |
| RS1560604977 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS1560605892 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS1560606294 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS1560606974 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS1560607925 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS1560609721 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |