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WT1 WT1 transcription factor

Gene ID: 7490, updated on 9-Jan-2022
Gene type: protein coding
Also known as: GUD; AWT1; WAGR; WT-1; WT33; NPHS4; WIT-2

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

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DescriptionTests
Aniridia 1
MedGen: C0344542OMIM: 106210GeneReviews: PAX6-Related Aniridia
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Common variants at 11p13 are associated with susceptibility to tuberculosis.
GeneReviews: Not available
Drash syndrome
MedGen: C0950121OMIM: 194080GeneReviews: WT1 Disorder
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Frasier syndrome
MedGen: C0950122OMIM: 136680GeneReviews: WT1 Disorder
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Genome-wide association study of ancestry-specific TB risk in the South African Coloured population.
GeneReviews: Not available
Meacham syndrome
MedGen: C1837026OMIM: 608978GeneReviews: WT1 Disorder
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Mesothelioma, malignant
MedGen: C0345967OMIM: 156240GeneReviews: Not available
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Nephrotic syndrome, type 4
MedGen: C3151568OMIM: 256370GeneReviews: WT1 Disorder
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Wilms tumor 1See labs
Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome
MedGen: C0206115OMIM: 194072GeneReviews: PAX6-Related Aniridia
See labs

Genomic context

Location:
11p13
Sequence:
Chromosome: 11; NC_000011.10 (32387775..32435539, complement)
Total number of exons:
12

Links

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