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 |
|---|---|---|---|
| RS2549106078 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2549106088 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2549106126 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2549106196 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2549106234 | Health Risk | Pathogenic | — |
| RS2549106245 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2549106396 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2549106440 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2549106471 | Health Risk | Pathogenic | — |
| RS2549106628 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2549106657 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2549106663 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2549106788 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2549106853 | Health Risk | Pathogenic | — |
| RS2549106896 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2549106910 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2549106917 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2549107031 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2549107192 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2549107217 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2549107218 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2549107839 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2549107849 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2549107852 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2549107863 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2549107870 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2549107895 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2549109346 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2549109389 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2549109403 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2549109417 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2549109951 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2549110000 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2549110013 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2549110052 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2549118540 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2549118574 | Health Risk | Pathogenic | — |
| RS2549120628 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2549120673 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2549120691 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2549120733 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS397515449 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS398124274 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS398124275 | Health Risk | Pathogenic | — |
| RS398124276 | Health Risk | Pathogenic | — |
| RS398124277 | Health Risk | Pathogenic | — |
| RS398124278 | Health Risk | Pathogenic | — |
| RS398124280 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS398124281 | Health Risk | Pathogenic | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS398124283 | Health Risk | Pathogenic | — |