WT1 WT1 transcription factor
Gene ID: 7490, updated on 27-Nov-2024Gene type: protein coding
Also known as: GUD; AWT1; WAGR; WT-1; WT33; NPHS4; WIT-2
- See all available tests in GTR for this gene
- Go to complete Gene record for WT1
- Go to Variation Viewer for WT1 variants
Summary
This gene encodes a transcription factor that contains four zinc-finger motifs at the C-terminus and a proline/glutamine-rich DNA-binding domain at the N-terminus. It has an essential role in the normal development of the urogenital system, and it is mutated in a small subset of patients with Wilms tumor. This gene exhibits complex tissue-specific and polymorphic imprinting pattern, with biallelic, and monoallelic expression from the maternal and paternal alleles in different tissues. Multiple transcript variants have been described. In several variants, there is evidence for the use of a non-AUG (CUG) translation initiation codon upstream of, and in-frame with the first AUG. Authors of PMID:7926762 also provide evidence that WT1 mRNA undergoes RNA editing in human and rat, and that this process is tissue-restricted and developmentally regulated. [provided by RefSeq, Mar 2015]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| 11p partial monosomy syndrome | not available |
| Aniridia 1 | not available |
| Common variants at 11p13 are associated with susceptibility to tuberculosis. GeneReviews: Not available | |
| Drash syndrome | not available |
| Frasier syndrome | not available |
| Genome-wide association study of ancestry-specific TB risk in the South African Coloured population. GeneReviews: Not available | |
| Meacham syndrome | not available |
| Mesothelioma, malignant | not available |
| Nephrotic syndrome, type 4 | not available |
| Wilms tumor 1 MedGen: CN033288OMIM: 194070GeneReviews: Wilms Tumor Predisposition, PAX6-Related Aniridia, WT1 Disorder | not available |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2022-01-25) ClinGen Genome Curation PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2022-01-25) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 11p13
- Sequence:
- Chromosome: 11; NC_000011.10 (32387775..32435539, complement)
- Total number of exons:
- 13
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for WT1 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
- WT1 database
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