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 |
|---|---|---|---|
| RS786204816 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS786204817 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS786204818 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS786204819 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS786204820 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS786204821 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS794727924 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS797046117 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS797046118 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS797046119 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS797046120 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Inborn genetic diseases, Mowat-Wilson syndrome |
| RS797046121 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS797046122 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS878853016 | Health Risk | Pathogenic | — |
| RS878855329 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS886039655 | Health Risk | Pathogenic | — |
| RS886041338 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS886041489 | Health Risk | Pathogenic | — |
| RS886041601 | Health Risk | Pathogenic | — |
| RS886041698 | Health Risk | Pathogenic | — |
| RS903815010 | Health Risk | Pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS1060500653 | Health Risk | Pathogenic/Likely pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS1703133912 | Health Risk | Pathogenic/Likely pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2149877962 | Health Risk | Pathogenic/Likely pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS587784571 | Health Risk | Pathogenic/Likely pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS756686919 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS786204810 | Health Risk | Pathogenic/Likely pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS886041989 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, Mowat-Wilson syndrome, Inborn genetic diseases |