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 |
|---|---|---|---|
| RS1057518371 | Health Risk | Conflicting classifications of pathogenicity | Mowat-Wilson syndrome, Inborn genetic diseases, Mowat-Wilson syndrome |
| RS1057520175 | Health Risk | Conflicting classifications of pathogenicity | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS1057522108 | Health Risk | Conflicting classifications of pathogenicity | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS1057522361 | Health Risk | Conflicting classifications of pathogenicity | Mowat-Wilson syndrome, Inborn genetic diseases, Mowat-Wilson syndrome |
| RS1239666726 | Health Risk | Conflicting classifications of pathogenicity | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS1242134764 | Health Risk | Conflicting classifications of pathogenicity | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS1250217464 | Health Risk | Conflicting classifications of pathogenicity | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS1255855620 | Health Risk | Conflicting classifications of pathogenicity | Mowat-Wilson syndrome, Inborn genetic diseases, Mowat-Wilson syndrome |
| RS1276023381 | Health Risk | Conflicting classifications of pathogenicity | Mowat-Wilson syndrome, ZEB2-related disorder, Mowat-Wilson syndrome |
| RS1290033369 | Health Risk | Conflicting classifications of pathogenicity | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS1360979536 | Health Risk | Conflicting classifications of pathogenicity | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS1372526467 | Health Risk | Conflicting classifications of pathogenicity | Mowat-Wilson syndrome, Inborn genetic diseases, Mowat-Wilson syndrome |
| RS1385679012 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Mowat-Wilson syndrome, Inborn genetic diseases |
| RS1387402564 | Health Risk | Conflicting classifications of pathogenicity | Mowat-Wilson syndrome, Inborn genetic diseases, Mowat-Wilson syndrome |
| RS1388932284 | Health Risk | Conflicting classifications of pathogenicity | Mowat-Wilson syndrome, Inborn genetic diseases, Mowat-Wilson syndrome |
| RS139944383 | Health Risk | Conflicting classifications of pathogenicity | Mowat-Wilson syndrome, Inborn genetic diseases, Mowat-Wilson syndrome |
| RS1408659659 | Health Risk | Conflicting classifications of pathogenicity | Mowat-Wilson syndrome, Inborn genetic diseases, Mowat-Wilson syndrome |
| RS141674976 | Health Risk | Conflicting classifications of pathogenicity | Mowat-Wilson syndrome, Mowat-Wilson syndrome, ZEB2-related disorder |
| RS141781307 | Health Risk | Conflicting classifications of pathogenicity | Mowat-Wilson syndrome, Inborn genetic diseases, Mowat-Wilson syndrome |
| RS141793065 | Health Risk | Conflicting classifications of pathogenicity | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS1441120961 | Health Risk | Conflicting classifications of pathogenicity | Mowat-Wilson syndrome, Inborn genetic diseases, Mowat-Wilson syndrome |
| RS144925893 | Health Risk | Conflicting classifications of pathogenicity | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS1451219938 | Health Risk | Conflicting classifications of pathogenicity | Mowat-Wilson syndrome, Inborn genetic diseases, Mowat-Wilson syndrome |
| RS147021269 | Health Risk | Conflicting classifications of pathogenicity | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS147693839 | Health Risk | Conflicting classifications of pathogenicity | Mowat-Wilson syndrome, Inborn genetic diseases, Mowat-Wilson syndrome |
| RS1490526407 | Health Risk | Conflicting classifications of pathogenicity | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS149882004 | Health Risk | Conflicting classifications of pathogenicity | Mowat-Wilson syndrome, Inborn genetic diseases, Mowat-Wilson syndrome |
| RS150665982 | Health Risk | Conflicting classifications of pathogenicity | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS151256895 | Health Risk | Conflicting classifications of pathogenicity | Mowat-Wilson syndrome, Inborn genetic diseases, Mowat-Wilson syndrome |
| RS1553961536 | Health Risk | Conflicting classifications of pathogenicity | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS1560605894 | Health Risk | Conflicting classifications of pathogenicity | ZEB2-related disorder, ZEB2-related disorder |
| RS1573707981 | Health Risk | Conflicting classifications of pathogenicity | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS1703128782 | Health Risk | Conflicting classifications of pathogenicity | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS1703257497 | Health Risk | Conflicting classifications of pathogenicity | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS1703275164 | Health Risk | Conflicting classifications of pathogenicity | Mowat-Wilson syndrome, Inborn genetic diseases, Mowat-Wilson syndrome |
| RS1703276763 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Mowat-Wilson syndrome, Inborn genetic diseases |
| RS1703292916 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Mowat-Wilson syndrome, Inborn genetic diseases |
| RS185223937 | Health Risk | Conflicting classifications of pathogenicity | Mowat-Wilson syndrome, Inborn genetic diseases, Mowat-Wilson syndrome |
| RS187331667 | Health Risk | Conflicting classifications of pathogenicity | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS201227541 | Health Risk | Conflicting classifications of pathogenicity | Mowat-Wilson syndrome, Inborn genetic diseases, Mowat-Wilson syndrome |
| RS201990887 | Health Risk | Conflicting classifications of pathogenicity | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2149875484 | Health Risk | Conflicting classifications of pathogenicity | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2549106648 | Health Risk | Conflicting classifications of pathogenicity | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS2549106815 | Health Risk | Conflicting classifications of pathogenicity | ZEB2-related disorder, Mowat-Wilson syndrome, ZEB2-related disorder |
| RS2549107051 | Health Risk | Conflicting classifications of pathogenicity | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS369668612 | Health Risk | Conflicting classifications of pathogenicity | Mowat-Wilson syndrome, Inborn genetic diseases, Mowat-Wilson syndrome |
| RS529220318 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Mowat-Wilson syndrome, Inborn genetic diseases |
| RS540345773 | Health Risk | Conflicting classifications of pathogenicity | Mowat-Wilson syndrome, Mowat-Wilson syndrome |
| RS550047043 | Health Risk | Conflicting classifications of pathogenicity | Mowat-Wilson syndrome, Inborn genetic diseases, Mowat-Wilson syndrome |
| RS577362409 | Health Risk | Conflicting classifications of pathogenicity | Mowat-Wilson syndrome, Inborn genetic diseases, Mowat-Wilson syndrome |