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 |
|---|---|---|---|
| RS587784569 | Health Risk | Conflicting classifications of pathogenicity | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS61750440 | Health Risk | Conflicting classifications of pathogenicity | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS727504224 | Health Risk | Conflicting classifications of pathogenicity | Mowat-Wilson syndrome, Mowat-Wilson syndrome, Inborn genetic diseases |
| RS727504227 | Health Risk | Conflicting classifications of pathogenicity | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS730881173 | Health Risk | Conflicting classifications of pathogenicity | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS730881175 | Health Risk | Conflicting classifications of pathogenicity | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS730881176 | Health Risk | Conflicting classifications of pathogenicity | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS730881177 | Health Risk | Conflicting classifications of pathogenicity | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS730881179 | Health Risk | Conflicting classifications of pathogenicity | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS730881185 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS730881186 | Health Risk | Conflicting classifications of pathogenicity | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS730881187 | Health Risk | Conflicting classifications of pathogenicity | Mowat-Wilson syndrome, Inborn genetic diseases, ZEB2-related disorder |
| RS730881197 | Health Risk | Conflicting classifications of pathogenicity | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS730881198 | Health Risk | Conflicting classifications of pathogenicity | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS730881200 | Health Risk | Conflicting classifications of pathogenicity | Mowat-Wilson syndrome, Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS730881202 | Health Risk | Conflicting classifications of pathogenicity | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS730881204 | Health Risk | Conflicting classifications of pathogenicity | Mowat-Wilson syndrome, Inborn genetic diseases, Mowat-Wilson syndrome |
| RS730881207 | Health Risk | Conflicting classifications of pathogenicity | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS730881214 | Health Risk | Conflicting classifications of pathogenicity | Mowat-Wilson syndrome, Inborn genetic diseases, Mowat-Wilson syndrome |
| RS748354087 | Health Risk | Conflicting classifications of pathogenicity | Mowat-Wilson syndrome, Inborn genetic diseases, Mowat-Wilson syndrome |
| RS749708858 | Health Risk | Conflicting classifications of pathogenicity | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS750936389 | Health Risk | Conflicting classifications of pathogenicity | Mowat-Wilson syndrome, Inborn genetic diseases, ZEB2-related disorder |
| RS752759296 | Health Risk | Conflicting classifications of pathogenicity | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS753804606 | Health Risk | Conflicting classifications of pathogenicity | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS754532627 | Health Risk | Conflicting classifications of pathogenicity | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS755233964 | Health Risk | Conflicting classifications of pathogenicity | Mowat-Wilson syndrome, Inborn genetic diseases, Mowat-Wilson syndrome |
| RS759097764 | Health Risk | Conflicting classifications of pathogenicity | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS760301787 | Health Risk | Conflicting classifications of pathogenicity | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS760782001 | Health Risk | Conflicting classifications of pathogenicity | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, Mowat-Wilson syndrome, Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
| RS761041545 | Health Risk | Conflicting classifications of pathogenicity | Mowat-Wilson syndrome, Inborn genetic diseases, Mowat-Wilson syndrome |
| RS767169568 | Health Risk | Conflicting classifications of pathogenicity | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS770528613 | Health Risk | Conflicting classifications of pathogenicity | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS772764893 | Health Risk | Conflicting classifications of pathogenicity | Mowat-Wilson syndrome, Inborn genetic diseases, Mowat-Wilson syndrome |
| RS777220598 | Health Risk | Conflicting classifications of pathogenicity | Mowat-Wilson syndrome, Inborn genetic diseases, ZEB2-related disorder |
| RS778851716 | Health Risk | Conflicting classifications of pathogenicity | Mowat-Wilson syndrome, Inborn genetic diseases, Mowat-Wilson syndrome |
| RS779103467 | Health Risk | Conflicting classifications of pathogenicity | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS779549076 | Health Risk | Conflicting classifications of pathogenicity | Mowat-Wilson syndrome, Inborn genetic diseases, Mowat-Wilson syndrome |
| RS780004720 | Health Risk | Conflicting classifications of pathogenicity | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS780017365 | Health Risk | Conflicting classifications of pathogenicity | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS780113721 | Health Risk | Conflicting classifications of pathogenicity | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS780189288 | Health Risk | Conflicting classifications of pathogenicity | Mowat-Wilson syndrome, Inborn genetic diseases, Mowat-Wilson syndrome |
| RS780523431 | Health Risk | Conflicting classifications of pathogenicity | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS780890592 | Health Risk | Conflicting classifications of pathogenicity | Mowat-Wilson syndrome, Inborn genetic diseases, Mowat-Wilson syndrome |
| RS794727922 | Health Risk | Conflicting classifications of pathogenicity | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS794727923 | Health Risk | Conflicting classifications of pathogenicity | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS886043609 | Health Risk | Conflicting classifications of pathogenicity | Mowat-Wilson syndrome, Inborn genetic diseases, Mowat-Wilson syndrome |
| RS904620951 | Health Risk | Conflicting classifications of pathogenicity | Mowat-Wilson syndrome, Inborn genetic diseases, Mowat-Wilson syndrome |
| RS984545941 | Health Risk | Conflicting classifications of pathogenicity | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS1060499770 | Health Risk | Likely pathogenic | Abnormal brain morphology, Abnormal brain morphology |
| RS1085307638 | Health Risk | Likely pathogenic | — |