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GeneE
50 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
WT1
WT1 transcription factor
Chromosome 11 Β· 11p13
NCBI Gene: 7490Ensembl: ENSG00000184937.17HGNC: HGNC:12796UniProt: A0A481V744
759PubMed Papers
26Diseases
2Drugs
155Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedHub GeneTranscription FactorTumor Suppressor
RESEARCH IMPACT
Highly StudiedVariant-Rich
CLINICAL
Clinical TrialsOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
glomerular basement membrane developmentnegative regulation of gene expression via chromosomal CpG island methylationbranching involved in ureteric bud morphogenesisnegative regulation of apoptotic processDenys-Drash syndromeWilms tumor 1nephrotic syndrome, type 4Frasier syndrome
✦AI Summary

WT1 is a transcription factor that plays critical roles in both normal development and cancer pathogenesis 1. As a transcription factor, WT1 regulates cellular development and survival by recognizing and binding to specific DNA sequences, controlling the expression of numerous target genes 1. WT1 is essential for urogenital system development, particularly in podocyte development within the kidney, where it regulates key genes including BMPER, PAX2, MAGI2, MYH9, and NPHS1 that control WNT signaling, actin filament organization, and cell junction assembly 2. The gene exhibits functional complexity with different isoforms: those lacking the KTS motif act as transcription factors, while KTS-containing isoforms may bind mRNA and participate in RNA metabolism 1. WT1 has dual roles in cancer, functioning both as a tumor suppressor and oncogene depending on context 13. Congenital mutations cause Wilms tumor, Denys-Drash syndrome, and Frasier syndrome 14, while somatic mutations occur in various leukemias 15. In renal carcinoma, WT1 inhibits cell proliferation by upregulating IL-24 and inducing G2/M cell cycle arrest 6. WT1 also shows promise as a therapeutic target, being highly immunogenic and ranking as the top cancer antigen for immunotherapy applications 3.

Sources cited
1
WT1 structure, dual tumor suppressor/oncogene roles, and disease associations including Wilms tumor and leukemias
PMID: 28791954
2
WT1's role in podocyte development and regulation of target genes BMPER, PAX2, MAGI2, MYH9, and NPHS1
PMID: 38810140
3
WT1 involvement in renal dysplasia and increased expression in primitive ducts
PMID: 25822765
4
WT1 inhibits renal carcinoma cell proliferation through IL-24 upregulation and G2/M arrest
PMID: 35915803
5
WT1 as transcription factor, oncogene properties, and top-ranked cancer antigen for immunotherapy
PMID: 20395243
6
WT1's role in hematopoiesis and leukemia development
PMID: 11372753
Disease Associationsβ“˜26
Denys-Drash syndromeOpen Targets
0.85Strong
Wilms tumor 1Open Targets
0.83Strong
nephrotic syndrome, type 4Open Targets
0.79Strong
Frasier syndromeOpen Targets
0.79Strong
Meacham syndromeOpen Targets
0.76Strong
Malignant MesotheliomaOpen Targets
0.66Moderate
NephroblastomaOpen Targets
0.61Moderate
WAGR syndromeOpen Targets
0.57Moderate
Wilms tumorOpen Targets
0.57Moderate
familial idiopathic steroid-resistant nephrotic syndromeOpen Targets
0.56Moderate
neurodegenerative diseaseOpen Targets
0.54Moderate
Inguinal herniaOpen Targets
0.54Moderate
hypertensionOpen Targets
0.53Moderate
hereditary Wilms tumorOpen Targets
0.53Moderate
diaphragmatic herniaOpen Targets
0.52Moderate
acute myeloid leukemiaOpen Targets
0.52Moderate
genetic disorderOpen Targets
0.52Moderate
isolated aniridiaOpen Targets
0.51Moderate
Hernia of the abdominal wallOpen Targets
0.51Moderate
HerniaOpen Targets
0.50Moderate
Denys-Drash syndromeUniProt
Frasier syndromeUniProt
Meacham syndromeUniProt
Mesothelioma, malignantUniProt
Nephrotic syndrome 4UniProt
Wilms tumor 1UniProt
Pathogenic Variants155
NM_024426.6(WT1):c.1387C>T (p.Arg463Ter)Pathogenic
Wilms tumor 1|Frasier syndrome|not provided|Frasier syndrome;Wilms tumor 1;11p partial monosomy syndrome;Drash syndrome|Focal segmental glomerulosclerosis|6 conditions
β˜…β˜…β˜†β˜†2026β†’ Residue 463
NM_024426.6(WT1):c.1316G>A (p.Arg439His)Pathogenic
Drash syndrome|not provided|Frasier syndrome;Nephrotic syndrome, type 4;Wilms tumor 1;Drash syndrome|Nephrotic syndrome, type 4|Frasier syndrome;Wilms tumor 1;11p partial monosomy syndrome;Drash syndrome|Wilms tumor 1|8 conditions
β˜…β˜…β˜†β˜†2025β†’ Residue 439
NM_024426.6(WT1):c.1447+4C>TPathogenic
Nephrotic syndrome, type 4|Frasier syndrome|Familial idiopathic steroid-resistant nephrotic syndrome|not provided|Nephrotic range proteinuria|Frasier syndrome;Wilms tumor 1;11p partial monosomy syndrome;Drash syndrome|Wilms tumor 1|WT1-related disorder|6 conditions|Leber congenital amaurosis 10
β˜…β˜…β˜†β˜†2025
NM_024426.6(WT1):c.1303C>T (p.Arg435Ter)Pathogenic
Drash syndrome|Wilms tumor 1|Frasier syndrome;Wilms tumor 1;11p partial monosomy syndrome;Drash syndrome|8 conditions|not provided|6 conditions|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 435
NM_024426.6(WT1):c.1399C>T (p.Arg467Trp)Pathogenic
Drash syndrome|Nephrotic syndrome, type 4|Meacham syndrome|Frasier syndrome;Drash syndrome;Wilms tumor 1;11p partial monosomy syndrome|not provided|Steroid-resistant nephrotic syndrome;Nephrotic range proteinuria|Kidney disorder|6 conditions|WT1-related disorder|Inborn genetic diseases|Wilms tumor 1
β˜…β˜…β˜†β˜†2025β†’ Residue 467
NM_024426.6(WT1):c.1120C>T (p.Arg374Ter)Pathogenic
not provided|Wilms tumor 1|Frasier syndrome;Drash syndrome;Wilms tumor 1;11p partial monosomy syndrome|Drash syndrome|Inborn genetic diseases|WT1-related Wilms tumor|WT1-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 374
NM_024426.6(WT1):c.1447+5G>APathogenic
Drash syndrome|Frasier syndrome|Familial idiopathic steroid-resistant nephrotic syndrome|Nephrotic syndrome, type 4|Frasier syndrome;Wilms tumor 1;11p partial monosomy syndrome;Drash syndrome|not provided|Wilms tumor 1|WT1-related disorder|6 conditions|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025
NM_024426.6(WT1):c.1338C>A (p.His446Gln)Pathogenic
Frasier syndrome;Drash syndrome|11p partial monosomy syndrome;Frasier syndrome;Drash syndrome;Wilms tumor 1|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 446
NM_024426.6(WT1):c.1499G>A (p.Arg500Gln)Pathogenic
Drash syndrome;Wilms tumor 1;11p partial monosomy syndrome;Frasier syndrome|Nephrotic syndrome, type 4|WT1-related disorder|Drash syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 500
NM_024426.6(WT1):c.634G>T (p.Glu212Ter)Pathogenic
Wilms tumor 1|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 212
NM_024426.6(WT1):c.1405G>A (p.Asp469Asn)Pathogenic
Drash syndrome|Nephrotic syndrome, type 4|not provided|Frasier syndrome;Wilms tumor 1;11p partial monosomy syndrome;Drash syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 469
NM_024426.6(WT1):c.1448-1G>ALikely pathogenic
Frasier syndrome|Wilms tumor 1;11p partial monosomy syndrome;Frasier syndrome;Drash syndrome
β˜…β˜…β˜†β˜†2025
NM_024426.6(WT1):c.1498C>T (p.Arg500Trp)Likely pathogenic
WT1-related disorder|6 conditions|Frasier syndrome;Wilms tumor 1;11p partial monosomy syndrome;Drash syndrome
β˜…β˜…β˜†β˜†2024β†’ Residue 500
NM_024426.6(WT1):c.658C>T (p.Gln220Ter)Pathogenic
not provided|Wilms tumor 1
β˜…β˜…β˜†β˜†2024β†’ Residue 220
NM_024426.6(WT1):c.1354+2T>CPathogenic
WT1-related disorder|6 conditions
β˜…β˜…β˜†β˜†2024
NM_024426.6(WT1):c.410del (p.Pro137fs)Pathogenic
Wilms tumor 1|Drash syndrome;Frasier syndrome;Wilms tumor 1;11p partial monosomy syndrome
β˜…β˜…β˜†β˜†2024β†’ Residue 137
NM_024426.6(WT1):c.1315C>T (p.Arg439Cys)Pathogenic
Meacham syndrome|not provided|Nephrotic syndrome, type 4|Frasier syndrome;Wilms tumor 1;11p partial monosomy syndrome;Drash syndrome
β˜…β˜…β˜†β˜†2024β†’ Residue 439
NM_024426.6(WT1):c.1400G>A (p.Arg467Gln)Pathogenic
not provided|Kidney disorder|8 conditions|Wilms tumor 1|Drash syndrome|WT1-related Wilms tumor|Frasier syndrome;Drash syndrome;Wilms tumor 1;11p partial monosomy syndrome|WT1-related disorder|Nephrotic syndrome, type 4|Nephroblastoma
β˜…β˜…β˜†β˜†2024β†’ Residue 467
NM_024426.6(WT1):c.1384C>T (p.Gln462Ter)Likely pathogenic
Meacham syndrome;Drash syndrome;Nephrotic syndrome, type 4;Frasier syndrome|Nephrotic syndrome, type 4
β˜…β˜…β˜†β˜†2023β†’ Residue 462
NM_024426.6(WT1):c.834dup (p.Thr279fs)Pathogenic
Wilms tumor 1
β˜…β˜…β˜†β˜†2023β†’ Residue 279
View on ClinVar β†—
Drug Targets2
GALINPEPIMUT-SPhase III
Wilms tumor protein vaccine antigen
acute myeloid leukemia by FAB classification
OMBIPEPIMUT-SPhase III
Wilms tumor protein vaccine antigen
brain glioblastoma
Related Genes
DNMT1Protein interaction100%WTAPProtein interaction100%EWSR1Protein interaction98%SYNPOProtein interaction98%NPHS2Protein interaction97%NPM1Protein interaction94%
Tissue Expression6 tissues
Ovary
100%
Heart
8%
Bone Marrow
0%
Liver
0%
Lung
0%
Brain
0%
Gene Interaction Network
Click a node to explore
WT1DNMT1WTAPEWSR1SYNPONPHS2NPM1
PROTEIN STRUCTURE
Preparing viewer…
PDB5KL3 Β· 1.45 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.25Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.14 [0.08–0.25]
RankingsWhere WT1 stands among ~20K protein-coding genes
  • #266of 20,598
    Most Researched759 Β· top 5%
  • #487of 5,498
    Most Pathogenic Variants155 Β· top 10%
  • #784of 17,882
    Most Constrained (LOEUF)0.25 Β· top 5%
Genes detectedWT1
Sources retrieved50 papers
Response timeβ€”
πŸ“„ Sources
50β–Ό
1
Heterogeneity of human WT1 gene.
PMID: 28791954
Postepy Hig Med Dosw (Online) Β· 2017
1.00
2
Kidney Organoid Modeling of WT1 Mutations Reveals Key Regulatory Paths Underlying Podocyte Development.
PMID: 38810140
Adv Sci (Weinh) Β· 2024
0.90
3
Interaction of human genes WT1 and CML28 in leukemic cells.
PMID: 23392705
J Huazhong Univ Sci Technolog Med Sci Β· 2013
0.84
4
Single-cell transcriptomics identifies aberrant glomerular angiogenic signalling in the early stages of WT1 kidney disease.
PMID: 39177649
J Pathol Β· 2024
0.82
5
Renal dysplasia.
PMID: 25822765
Arch Pathol Lab Med Β· 2015
0.80