ZEB2 zinc finger E-box binding homeobox 2
Gene ID: 9839, updated on 22-Apr-2024Gene type: protein coding
Also known as: SIP1; SIP-1; ZFHX1B; HSPC082; SMADIP1
- See all available tests in GTR for this gene
- Go to complete Gene record for ZEB2
- Go to Variation Viewer for ZEB2 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Common variation at 2q22.3 (ZEB2) influences the risk of renal cancer. GeneReviews: Not available | |
| Genome-wide association analysis identifies 13 new risk loci for schizophrenia. GeneReviews: Not available | |
| Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32 GeneReviews: Not available | |
| Genome-wide association study identifies ZFHX1B as a susceptibility locus for severe myopia. GeneReviews: Not available | |
| Mowat-Wilson syndrome | See labs |
| Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. GeneReviews: Not available |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2020-06-24) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 2q22.3
- Sequence:
- Chromosome: 2; NC_000002.12 (144384081..144520119, complement)
- Total number of exons:
- 11
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ZEB2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
- ZEB2 database
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