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 pat... See more...

Aliases for WT1 Gene

Aliases for WT1 Gene

  • WT1 Transcription Factor 2 3 5
  • Wilms Tumor Protein 3 4
  • Wilms Tumor 1 2 3
  • WT33 3 4
  • NPHS4 3
  • WIT-2 3
  • AWT1 3
  • WAGR 3
  • GUD 3

External Ids for WT1 Gene

Previous HGNC Symbols for WT1 Gene

  • GUD

Previous GeneCards Identifiers for WT1 Gene

  • GC11M034005
  • GC11U900002
  • GC11M032448
  • GC11M032373
  • GC11M032104

Summaries for WT1 Gene

Entrez Gene Summary for WT1 Gene

  • 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]

CIViC Summary for WT1 Gene

  • WT1 is a tumor suppressor gene associated with the development of Wilms' Tumor, from which it was named. Mutations in exon 7 and 9 of WT1 have been recurrently identified in acute myeloid leukemia and associated with poorer prognosis and chemotherapy resistance.

GeneCards Summary for WT1 Gene

WT1 (WT1 Transcription Factor) is a Protein Coding gene. Diseases associated with WT1 include Wilms Tumor 1 and Denys-Drash Syndrome. Among its related pathways are Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and Primary Focal Segmental Glomerulosclerosis FSGS. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and sequence-specific DNA binding. An important paralog of this gene is EGR2.

UniProtKB/Swiss-Prot Summary for WT1 Gene

  • Transcription factor that plays an important role in cellular development and cell survival (PubMed:7862533). Recognizes and binds to the DNA sequence 5'-GCG(T/G)GGGCG-3' (PubMed:7862533, PubMed:17716689, PubMed:25258363). Regulates the expression of numerous target genes, including EPO. Plays an essential role for development of the urogenital system. It has a tumor suppressor as well as an oncogenic role in tumor formation. Function may be isoform-specific: isoforms lacking the KTS motif may act as transcription factors (PubMed:15520190). Isoforms containing the KTS motif may bind mRNA and play a role in mRNA metabolism or splicing (PubMed:16934801). Isoform 1 has lower affinity for DNA, and can bind RNA (PubMed:19123921).

Gene Wiki entry for WT1 Gene

Additional gene information for WT1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for WT1 Gene

Genomics for WT1 Gene

GeneHancer (GH) Regulatory Elements for WT1 Gene

Promoters and enhancers for WT1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J032432 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE dbSUPER 750.6 +0.7 721 6 ZBTB40 SMARCE1 MYC ELF1 L3MBTL2 RBM39 MAX DACH1 TEAD4 ZNF148 DQ289489 ENSG00000278045 ENSG00000273677 ENSG00000278822 WT1 WT1-AS QSER1 EIF3M
GH11J032430 Promoter/Enhancer 0.7 EPDnew dbSUPER 750.4 +5.1 5052 0.1 EZH2 ZBTB33 WT1 WT1-AS piR-43105-079
GH11J032006 Enhancer 0.5 FANTOM5 dbSUPER 62 +429.7 429732 0.2 ZNF407 piR-36898 WT1 LOC100506675 EIF3M ENSG00000254836 RF00017-888 ENSG00000285283
GH11J032374 Enhancer 0.9 ENCODE dbSUPER 11.7 +61.5 61485 0.1 ZNF24 CTCF CC2D1A ELF1 L3MBTL2 MAX RAD21 ELF3 ZFX SMARCA4 IMMP1L CSTF3 WT1-AS WT1 EIF3M HSALNG0083473 lnc-CCDC73-4
GH11J032400 Enhancer 0.9 Ensembl ENCODE dbSUPER 11.6 +35.5 35484 0.8 TRIM24 CREB1 PKNOX1 CEBPB ZNF316 FOSL1 CEBPG ATF1 ATF2 IRF9 WT1-AS WT1 lnc-CCDC73-4 piR-38605-001
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around WT1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the WT1 gene promoter:
  • GATA-1
  • TBP

Genomic Locations for WT1 Gene

Genomic Locations for WT1 Gene
chr11:32,387,775-32,435,885
(GRCh38/hg38)
Size:
48,111 bases
Orientation:
Minus strand
chr11:32,409,321-32,457,176
(GRCh37/hg19)
Size:
47,856 bases
Orientation:
Minus strand

Genomic View for WT1 Gene

Genes around WT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
WT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for WT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for WT1 Gene

Proteins for WT1 Gene

  • Protein details for WT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P19544-WT1_HUMAN
    Recommended name:
    Wilms tumor protein
    Protein Accession:
    P19544
    Secondary Accessions:
    • A8K6S1
    • B3KSA5
    • Q15881
    • Q16256
    • Q16575
    • Q4VXV4
    • Q4VXV5
    • Q4VXV6
    • Q8IYZ5

    Protein attributes for WT1 Gene

    Size:
    449 amino acids
    Molecular mass:
    49188 Da
    Quaternary structure:
    • Homodimer. Interacts with WTIP. Interacts with actively translating polysomes. Detected in nuclear ribonucleoprotein (mRNP) particles. Interacts with HNRNPU via the zinc-finger region. Interacts with U2AF2. Interacts with CITED2 (By similarity). Interacts with ZNF224 via the zinc-finger region. Interacts with WTAP and SRY. Interacts with AMER1. Interacts with RBM4.
    Miscellaneous:
    • Presence of the KTS motif hinders interactions between DNA and zinc-finger 4.
    SequenceCaution:
    • Sequence=AAB33443.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part.; Evidence={ECO:0000305}; Sequence=CAA35956.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=CAA35956.1; Type=Miscellaneous discrepancy; Note=Unusual initiator. The initiator methionine is coded by a non-canonical CTG leucine codon.; Evidence={ECO:0000305}; Sequence=CAC39220.3; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=CAI95758.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=CAI95759.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for WT1 Gene

    Alternative splice isoforms for WT1 Gene

neXtProt entry for WT1 Gene

Post-translational modifications for WT1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for WT1 Gene

Domains & Families for WT1 Gene

Gene Families for WT1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Suggested Antigen Peptide Sequences for WT1 Gene

GenScript: Design optimal peptide antigens:
  • Wilms tumor 1 (A0FJ57_HUMAN)
  • Wilms tumor 1 (A0FJ58_HUMAN)
  • WT1 protein (A8MN20_HUMAN)
  • cDNA FLJ35849 fis, clone TESTI2006940, highly similar to Wilms' tumor protein (WT33) (B3KSA5_HUMAN)
  • WT1 protein (Q6LBI3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P19544

UniProtKB/Swiss-Prot:

WT1_HUMAN :
  • Binds to DNA motifs with the sequence 5'-GCG(T/G)GGGCG-3' via its C2H2-type zinc fingers. Starting from the N-terminus, the second zinc finger binds to the 3'-GCG motif, the middle zinc finger interacts with the central TGG motif, and the C-terminal zinc finger binds to the 5'-GCG motif. Binds double-stranded target DNA, irrespective of the cytosine methylation status. Has reduced affinity for target DNA where the cytosines have been oxidized to 5-hydroxymethylcytosine, 5-formylcytosine or 5-carboxylcytosine.
  • Belongs to the EGR C2H2-type zinc-finger protein family.
Domain:
  • Binds to DNA motifs with the sequence 5'-GCG(T/G)GGGCG-3' via its C2H2-type zinc fingers. Starting from the N-terminus, the second zinc finger binds to the 3'-GCG motif, the middle zinc finger interacts with the central TGG motif, and the C-terminal zinc finger binds to the 5'-GCG motif. Binds double-stranded target DNA, irrespective of the cytosine methylation status. Has reduced affinity for target DNA where the cytosines have been oxidized to 5-hydroxymethylcytosine, 5-formylcytosine or 5-carboxylcytosine.
Family:
  • Belongs to the EGR C2H2-type zinc-finger protein family.
genes like me logo Genes that share domains with WT1: view

Function for WT1 Gene

Molecular function for WT1 Gene

UniProtKB/Swiss-Prot Function:
Transcription factor that plays an important role in cellular development and cell survival (PubMed:7862533). Recognizes and binds to the DNA sequence 5'-GCG(T/G)GGGCG-3' (PubMed:7862533, PubMed:17716689, PubMed:25258363). Regulates the expression of numerous target genes, including EPO. Plays an essential role for development of the urogenital system. It has a tumor suppressor as well as an oncogenic role in tumor formation. Function may be isoform-specific: isoforms lacking the KTS motif may act as transcription factors (PubMed:15520190). Isoforms containing the KTS motif may bind mRNA and play a role in mRNA metabolism or splicing (PubMed:16934801). Isoform 1 has lower affinity for DNA, and can bind RNA (PubMed:19123921).
GENATLAS Biochemistry:
Wilms tumor protein including WIT1 overlapping 5' - WT1 and divergently (antisense) transcribed sequences,transcriptional regulator binding to both GC-rich and TC repeat elements that are present in multiple promoters,first considered as a repressor but appearing now as a transcriptional activator of specific genes i.e AMH,DAX1 implicated in gonadal differentiation,highly expressed in the developing kidney located in the condensing mesenchyme,renal vesicle,developing podocytes and also expressed in urogenital tract,sometimes paternally imprinted in placenta and fetal brain but maternally imprinted in fibroblasts and lymphocytes,overexpressed in myelodysplastic syndrome in progression and in acute leukemia

Phenotypes From GWAS Catalog for WT1 Gene

Gene Ontology (GO) - Molecular Function for WT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific NAS 19274049
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific ISS,IDA --
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA --
GO:0003700 DNA-binding transcription factor activity NAS 7862533
genes like me logo Genes that share ontologies with WT1: view
genes like me logo Genes that share phenotypes with WT1: view

Human Phenotype Ontology for WT1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for WT1 Gene

MGI Knock Outs for WT1:
  • Wt1 Wt1<tm1Nhsn>
  • Wt1 Wt1<tm1Jae>
  • Wt1 Wt1<tm2Hst>
  • Wt1 Wt1<tm2.1Vih>
  • Wt1 Wt1<tm1Jak>
  • Wt1 Wt1<tm1Hst>
  • Wt1 Wt1<tm1.1Jak>

Animal Model Products

CRISPR Products

miRNA for WT1 Gene

miRTarBase miRNAs that target WT1

Clone Products

  • Addgene plasmids for WT1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for WT1 Gene

Localization for WT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for WT1 Gene

Nucleus. Nucleus, nucleolus. Cytoplasm. Note=Isoforms lacking the KTS motif have a diffuse nuclear location (PubMed:15520190). Shuttles between nucleus and cytoplasm. {ECO:0000250, ECO:0000269 PubMed:15520190}.
Isoform 1: Nucleus speckle.
Isoform 4: Nucleus, nucleoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for WT1 gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for WT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 1662794
GO:0005654 nucleoplasm IDA --
GO:0005730 nucleolus IEA --
GO:0005737 cytoplasm ISS --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with WT1: view

Pathways & Interactions for WT1 Gene

genes like me logo Genes that share pathways with WT1: view

SIGNOR curated interactions for WT1 Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for WT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IMP 23042785
GO:0001570 vasculogenesis ISS --
GO:0001657 ureteric bud development ISS --
GO:0001658 branching involved in ureteric bud morphogenesis IGI 10101119
GO:0001822 kidney development IGI 11912180
genes like me logo Genes that share ontologies with WT1: view

Drugs & Compounds for WT1 Gene

(72) Drugs for WT1 Gene - From: ClinicalTrials, DGIdb, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Doxorubicin Approved, Investigational Pharma Topo II inhibitor,immunosuppresive antineoplastic antibiotic 2016
Carboplatin Approved Pharma Antitumor agent that forms platinum-DNA adducts., Platinum 2418
Cyclophosphamide Approved, Investigational Pharma Nitrogen mustard alkylating agent and prodrug. 3484
Docetaxel Approved, Investigational Pharma Microtubulin disassembly inhibitor, Tubulin and VEGF inhibitor, Taxanes 2231
Epirubicin Approved Pharma 457

(17) Additional Compounds for WT1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with WT1: view

Transcripts for WT1 Gene

CRISPR Products

Clone Products

  • Addgene plasmids for WT1

Alternative Splicing Database (ASD) splice patterns (SP) for WT1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b
SP1: - - -
SP2: - -
SP3: - - -
SP4: - - - - -
SP5: - - -
SP6:

Relevant External Links for WT1 Gene

GeneLoc Exon Structure for
WT1
ECgene alternative splicing isoforms for
WT1

Expression for WT1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for WT1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for WT1 Gene

This gene is overexpressed in Uterus (x11.7), Fallopian Tube (x8.7), Ovary (x7.7), and Testis (x4.4).

Protein differential expression in normal tissues from HIPED for WT1 Gene

This gene is overexpressed in Fetal ovary (29.4), Fetal testis (27.2), and Ovary (12.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for WT1 Gene



Protein tissue co-expression partners for WT1 Gene

NURSA nuclear receptor signaling pathways regulating expression of WT1 Gene:

WT1

SOURCE GeneReport for Unigene cluster for WT1 Gene:

Hs.591980

mRNA Expression by UniProt/SwissProt for WT1 Gene:

P19544-WT1_HUMAN
Tissue specificity: Expressed in the kidney and a subset of hematopoietic cells.

Evidence on tissue expression from TISSUES for WT1 Gene

  • Kidney(3.4)
  • Blood(2.8)
  • Spleen(2.4)
  • Heart(2.3)
  • Muscle(2.3)
  • Bone marrow(2.2)
  • Lung(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for WT1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • pituitary gland
  • skull
Thorax:
  • breast
  • clavicle
  • diaphragm
  • esophagus
  • heart
  • heart valve
  • lung
Abdomen:
  • abdominal wall
  • intestine
  • kidney
  • large intestine
  • liver
  • small intestine
  • spleen
  • stomach
Pelvis:
  • fallopian tube
  • ovary
  • pelvis
  • penis
  • prostate
  • testicle
  • ureter
  • urethra
  • urinary bladder
  • uterus
  • vagina
  • vas deferens
  • vulva
Limb:
  • arm
  • digit
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • humerus
  • lower limb
  • radius
  • shin
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
General:
  • blood
  • blood vessel
  • coagulation system
  • hair
  • lymph node
  • peripheral nervous system
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with WT1: view

Orthologs for WT1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for WT1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia WT1 33 32
  • 98.57 (n)
OneToOne
cow
(Bos Taurus)
Mammalia WT1 33 32
  • 93.84 (n)
OneToOne
dog
(Canis familiaris)
Mammalia WT1 33 32
  • 93.42 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Wt1 32
  • 91.54 (n)
oppossum
(Monodelphis domestica)
Mammalia WT1 33
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Wt1 17 33 32
  • 89.35 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia WT1 33
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves WT1 33 32
  • 83.25 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia WT1 33
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia wt1 32
  • 77.86 (n)
African clawed frog
(Xenopus laevis)
Amphibia wt1-A 32
zebrafish
(Danio rerio)
Actinopterygii wt1a 33 32
  • 73.92 (n)
OneToMany
wt1b 33
  • 69 (a)
OneToMany
wt1 32
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5 32
fruit fly
(Drosophila melanogaster)
Insecta CG3065 33
  • 19 (a)
ManyToMany
klu 33
  • 12 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea egrh-2 33
  • 22 (a)
OneToMany
egrh-1 33
  • 20 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MIG2 33
  • 11 (a)
ManyToMany
MIG3 33
  • 10 (a)
ManyToMany
-- 35
-- 35
Species where no ortholog for WT1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for WT1 Gene

ENSEMBL:
Gene Tree for WT1 (if available)
TreeFam:
Gene Tree for WT1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for WT1: view image

Paralogs for WT1 Gene

Paralogs for WT1 Gene

genes like me logo Genes that share paralogs with WT1: view

Variants for WT1 Gene

Sequence variations from dbSNP and Humsavar for WT1 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1014605516 uncertain-significance, Drash syndrome, Frasier syndrome, Wilms tumor 1, Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 32,396,379(-) G/A/T 5_prime_UTR_variant, coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1021307133 likely-benign, Drash syndrome, Frasier syndrome, Wilms tumor 1, Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 32,435,202(-) G/A coding_sequence_variant, genic_upstream_transcript_variant, non_coding_transcript_variant, synonymous_variant
rs1036899554 uncertain-significance, Drash syndrome, Frasier syndrome, Wilms tumor 1, Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 32,435,143(-) T/A coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs1037084691 uncertain-significance, pathogenic, Acute myeloid leukemia, Diffuse mesangial sclerosis 32,392,031(-) C/G/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1042347 likely-benign, Wilms Tumor, Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome, Diffuse mesangial sclerosis, Meacham syndrome 32,388,238(-) C/G 3_prime_UTR_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for WT1 Gene

Variant ID Type Subtype PubMed ID
esv3387730 CNV insertion 20981092
esv3397537 CNV insertion 20981092
esv3421146 CNV insertion 20981092
esv3579463 CNV loss 25503493
nsv1038188 CNV gain 25217958
nsv1044547 CNV gain 25217958
nsv1051559 CNV gain 25217958
nsv472951 CNV novel sequence insertion 20440878
nsv832108 CNV loss 17160897
nsv951598 CNV deletion 24416366

Variation tolerance for WT1 Gene

Residual Variation Intolerance Score: 35.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.94; 19.51% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for WT1 Gene

Human Gene Mutation Database (HGMD)
WT1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
WT1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for WT1 Gene

Disorders for WT1 Gene

MalaCards: The human disease database

(136) MalaCards diseases for WT1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search WT1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

WT1_HUMAN
  • Frasier syndrome (FS) [MIM:136680]: Characterized by a slowly progressing nephropathy leading to renal failure in adolescence or early adulthood, male pseudohermaphroditism, and no Wilms tumor. As for histological findings of the kidneys, focal glomerular sclerosis is often observed. There is phenotypic overlap with Denys-Drash syndrome. Inheritance is autosomal dominant. {ECO:0000269 PubMed:10571943}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Wilms tumor 1 (WT1) [MIM:194070]: Embryonal malignancy of the kidney that affects approximately 1 in 10'000 infants and young children. It occurs both in sporadic and hereditary forms. {ECO:0000269 PubMed:1317572, ECO:0000269 PubMed:15150775, ECO:0000269 PubMed:9108089, ECO:0000269 PubMed:9529364}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Denys-Drash syndrome (DDS) [MIM:194080]: Typical nephropathy characterized by diffuse mesangial sclerosis, genital abnormalities, and/or Wilms tumor. There is phenotypic overlap with WAGR syndrome and Frasier syndrome. Inheritance is autosomal dominant, but most cases are sporadic. {ECO:0000269 PubMed:10738002, ECO:0000269 PubMed:10799199, ECO:0000269 PubMed:11182928, ECO:0000269 PubMed:11519891, ECO:0000269 PubMed:1302008, ECO:0000269 PubMed:1338906, ECO:0000269 PubMed:15349765, ECO:0000269 PubMed:1655284, ECO:0000269 PubMed:8111391, ECO:0000269 PubMed:8112732, ECO:0000269 PubMed:8295405, ECO:0000269 PubMed:8388765, ECO:0000269 PubMed:8411073, ECO:0000269 PubMed:8741319, ECO:0000269 PubMed:8956030, ECO:0000269 PubMed:9475094, ECO:0000269 PubMed:9529364}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Nephrotic syndrome 4 (NPHS4) [MIM:256370]: A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form and progress to end-stage renal failure. Most patients with NPHS4 show diffuse mesangial sclerosis on renal biopsy, which is a pathologic entity characterized by mesangial matrix expansion with no mesangial hypercellularity, hypertrophy of the podocytes, vacuolized podocytes, thickened basement membranes, and diminished patency of the capillary lumen. {ECO:0000269 PubMed:11182928, ECO:0000269 PubMed:15253707, ECO:0000269 PubMed:20798252, ECO:0000269 PubMed:9529364, ECO:0000269 PubMed:9607189}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Meacham syndrome (MEACHS) [MIM:608978]: Rare sporadically occurring multiple malformation syndrome characterized by male pseudohermaphroditism with abnormal internal female genitalia comprising a uterus and double or septate vagina, complex congenital heart defect and diaphragmatic abnormalities. {ECO:0000269 PubMed:17853480}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=A chromosomal aberration involving WT1 may be a cause of desmoplastic small round cell tumor (DSRCT). Translocation t(11;22)(p13;q12) with EWSR1.
  • Mesothelioma, malignant (MESOM) [MIM:156240]: An aggressive neoplasm of the serosal lining of the chest. It appears as broad sheets of cells, with some regions containing spindle-shaped, sarcoma-like cells and other regions showing adenomatous patterns. Pleural mesotheliomas have been linked to exposure to asbestos. {ECO:0000269 PubMed:8401592}. Note=The disease may be caused by mutations affecting the gene represented in this entry.

Additional Disease Information for WT1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Tumor Gene Database
(TGDB)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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Publications for WT1 Gene

  1. Prevalence of WT1 mutations in a large cohort of patients with steroid-resistant and steroid-sensitive nephrotic syndrome. (PMID: 15253707) Ruf RG … APN Study Group (Kidney international 2004) 3 4 23 43 56
  2. Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome. (PMID: 1655284) Pelletier J … Fouser L (Cell 1991) 3 4 23 43 56
  3. Structure of the Wilms tumor suppressor protein zinc finger domain bound to DNA. (PMID: 17716689) Stoll R … Wright PE (Journal of molecular biology 2007) 3 4 23 56
  4. WT1 mutations in Meacham syndrome suggest a coelomic mesothelial origin of the cardiac and diaphragmatic malformations. (PMID: 17853480) Suri M … Reardon W (American journal of medical genetics. Part A 2007) 3 4 23 56
  5. WT1 mutations in nephrotic syndrome revisited. High prevalence in young girls, associations and renal phenotypes. (PMID: 16909243) Aucella F … Ghiggeri GM (Pediatric nephrology (Berlin, Germany) 2006) 3 23 43 56

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