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 |
|---|---|---|---|
| RS1560609810 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS1560618505 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS1560620837 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS1573713477 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS1573715510 | Health Risk | Pathogenic | — |
| RS1573716158 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS1573716795 | Health Risk | Pathogenic | — |
| RS1573717173 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Inborn genetic diseases, Mowat-Wilson syndrome |
| RS1573717593 | Health Risk | Pathogenic | — |
| RS1573717685 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS1573718600 | Health Risk | Pathogenic | — |
| RS1573718630 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS1573721065 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS1573721242 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS1573722122 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS1573722407 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS1573743888 | Health Risk | Pathogenic | — |
| RS1573743951 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS1703133873 | Health Risk | Pathogenic | — |
| RS1703134890 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1703231612 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS1703257054 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS1703258451 | Health Risk | Pathogenic | — |
| RS1703265228 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS1703267358 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS1703269824 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS1703271038 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1703277223 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS1703279692 | Health Risk | Pathogenic | — |
| RS1703280349 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS1703280501 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS1703290664 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS1703305546 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS1703305657 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1703347063 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS1703347173 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS1703742764 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS1705170374 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2149872616 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2149872632 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2149872634 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2149872642 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2149872664 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2149872686 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2149872716 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2149875547 | Health Risk | Pathogenic | — |
| RS2149876398 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2149876411 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2149876500 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2149876649 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |