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 |
|---|---|---|---|
| RS2149876810 | Health Risk | Pathogenic | Neurodevelopmental delay, Neurodevelopmental delay |
| RS2149876829 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2149876861 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2149876873 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2149877017 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2149877032 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2149877058 | Health Risk | Pathogenic | — |
| RS2149877082 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2149877112 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2149877154 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2149877279 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2149877380 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2149877416 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2149877421 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2149877432 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2149877492 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2149877500 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2149877941 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Inborn genetic diseases, Mowat-Wilson syndrome |
| RS2149877963 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2149877994 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2149879206 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2149879695 | Health Risk | Pathogenic | — |
| RS2149879709 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2149891139 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2149935109 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2149935159 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2549101898 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2549101914 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2549101925 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2549101927 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2549101930 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2549101952 | Health Risk | Pathogenic | — |
| RS2549101967 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2549101973 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2549104776 | Health Risk | Pathogenic | — |
| RS2549104779 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2549104792 | Health Risk | Pathogenic | ZEB2-related disorder, Mowat-Wilson syndrome, ZEB2-related disorder |
| RS2549105628 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Inborn genetic diseases, Mowat-Wilson syndrome |
| RS2549105695 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2549105730 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2549105756 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2549105787 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2549105793 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2549105809 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2549105837 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2549105879 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2549105946 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2549105949 | Health Risk | Pathogenic | — |
| RS2549105962 | Health Risk | Pathogenic | — |
| RS2549106009 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |