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 |
|---|---|---|---|
| RS1114167349 | Health Risk | Likely pathogenic | Smith-Magenis Syndrome-like, Mowat-Wilson syndrome, Smith-Magenis Syndrome-like |
| RS1135402759 | Health Risk | Likely pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS1423851170 | Health Risk | Likely pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS1451961075 | Health Risk | Likely pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS1553960788 | Health Risk | Likely pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS1553961332 | Health Risk | Likely pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS1553961747 | Health Risk | Likely pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS1553964145 | Health Risk | Likely pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS1560602214 | Health Risk | Likely pathogenic | — |
| RS1573708153 | Health Risk | Likely pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS1573708180 | Health Risk | Likely pathogenic | Marfanoid habitus and intellectual disability, Marfanoid habitus and intellectual disability |
| RS1573713430 | Health Risk | Likely pathogenic | Marfanoid habitus and intellectual disability, Marfanoid habitus and intellectual disability |
| RS1573718595 | Health Risk | Likely pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS1703134531 | Health Risk | Likely pathogenic | — |
| RS1703135134 | Health Risk | Likely pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS1703231315 | Health Risk | Likely pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS1703232747 | Health Risk | Likely pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS1703278635 | Health Risk | Likely pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS1703292012 | Health Risk | Likely pathogenic | — |
| RS1703306516 | Health Risk | Likely pathogenic | Mowat-Wilson syndrome, Inborn genetic diseases, Mowat-Wilson syndrome |
| RS2149872651 | Health Risk | Likely pathogenic | Intellectual disability, Intellectual disability |
| RS2149876315 | Health Risk | Likely pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2149876640 | Health Risk | Likely pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2149877525 | Health Risk | Likely pathogenic | See cases, See cases |
| RS2149879223 | Health Risk | Likely pathogenic | — |
| RS2149935119 | Health Risk | Likely pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2549101895 | Health Risk | Likely pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2549101903 | Health Risk | Likely pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2549101933 | Health Risk | Likely pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2549101955 | Health Risk | Likely pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2549104771 | Health Risk | Likely pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2549105623 | Health Risk | Likely pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2549106065 | Health Risk | Likely pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2549106613 | Health Risk | Likely pathogenic | ZEB2-related disorder, ZEB2-related disorder |
| RS2549106667 | Health Risk | Likely pathogenic | ZEB2-related disorder, ZEB2-related disorder |
| RS2549106878 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2549107043 | Health Risk | Likely pathogenic | ZEB2-related disorder, ZEB2-related disorder |
| RS2549107171 | Health Risk | Likely pathogenic | See cases, See cases |
| RS2549107180 | Health Risk | Likely pathogenic | — |
| RS2549107201 | Health Risk | Likely pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2549109930 | Health Risk | Likely pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2549118592 | Health Risk | Likely pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2549120592 | Health Risk | Likely pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2549157200 | Health Risk | Likely pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS397515448 | Health Risk | Likely pathogenic | Mowat-Wilson syndrome, Inborn genetic diseases, Mowat-Wilson syndrome |
| RS398124282 | Health Risk | Likely pathogenic | Mowat-Wilson syndrome, See cases, Mowat-Wilson syndrome |
| RS587776612 | Health Risk | Likely pathogenic | — |
| RS730881216 | Health Risk | Likely pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS766022812 | Health Risk | Likely pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS863224942 | Health Risk | Likely pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |