WT1 (WT1 transcription factor) - Rat Genome Database

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Gene: WT1 (WT1 transcription factor) Homo sapiens
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Symbol: WT1
Name: WT1 transcription factor
RGD ID: 69122
HGNC Page HGNC:12796
Description: Enables several functions, including C2H2 zinc finger domain binding activity; DNA-binding transcription activator activity, RNA polymerase II-specific; and double-stranded DNA binding activity. Involved in several processes, including kidney development; regulation of apoptotic process; and regulation of gene expression. Acts upstream of with a positive effect on negative regulation of gene expression via chromosomal CpG island methylation. Acts upstream of or within negative regulation of transcription by RNA polymerase II. Located in cytosol and nuclear speck. Implicated in several diseases, including Denys-Drash syndrome; Frasier syndrome; malignant mesothelioma; nephroblastoma (multiple); and nephrotic syndrome type 4. Biomarker of breast cancer; chronic kidney disease; female reproductive organ cancer (multiple); lung cancer; and nephroblastoma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: amino-terminal domain of EWS|last three zinc fingers of the DNA-binding domain of WT1; AWT1; EWS-WT1; GUD; NPHS4; WAGR; Wilms tumor 1; Wilms tumor protein; Wilms tumor protein isoform Ex4a(+); WIT-2; WT-1; WT33
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381132,387,775 - 32,435,539 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1132,387,775 - 32,435,564 (-)EnsemblGRCh38hg38GRCh38
GRCh371132,409,321 - 32,457,085 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361132,365,901 - 32,413,663 (-)NCBINCBI36Build 36hg18NCBI36
Build 341132,365,896 - 32,413,653NCBI
Celera1132,556,060 - 32,603,819 (-)NCBICelera
Cytogenetic Map11p13NCBI
HuRef1132,104,249 - 32,152,010 (-)NCBIHuRef
CHM1_11132,409,251 - 32,457,017 (-)NCBICHM1_1
T2T-CHM13v2.01132,523,264 - 32,571,024 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
acute myeloid leukemia  (EXP,IAGP)
acute promyelocytic leukemia  (EXP)
Alzheimer's disease  (IDA)
aniridia  (EXP)
aniridia 1  (IAGP)
atypical hemolytic-uremic syndrome  (IAGP)
B-cell acute lymphoblastic leukemia  (IAGP)
B-lymphoblastic leukemia/lymphoma  (IAGP)
B-lymphoblastic leukemia/lymphoma MLL rearranged  (IAGP)
benign familial hematuria  (IAGP)
breast cancer  (IEP)
Breast Neoplasms  (EXP)
Chromosome 11p Deletion Syndrome  (IAGP)
chronic kidney disease  (IAGP,IEP)
chronic myeloid leukemia  (EXP)
Colonic Neoplasms  (EXP)
congenital diaphragmatic hernia  (EXP,ISS)
Denys-Drash syndrome  (EXP,IAGP,ISS)
Diaphragmatic Hernia  (EXP)
Diffuse Mesangial Sclerosis  (IAGP)
disorder of sexual development  (IAGP)
endometrial cancer  (IEP)
focal segmental glomerulosclerosis  (IAGP)
Frasier syndrome  (EXP,IAGP)
genetic disease  (IAGP)
glioblastoma  (EXP)
glomerulonephritis  (EXP)
gonadal dysgenesis  (IAGP)
Hereditary Neoplastic Syndromes  (IAGP)
intellectual disability  (IAGP)
kidney disease  (IAGP)
Kidney Reperfusion Injury  (ISO)
Leber congenital amaurosis 10  (IAGP)
leukemia  (EXP)
lung cancer  (IEP)
Lung Neoplasms  (EXP)
Male Genital Neoplasms  (IEP)
malignant mesothelioma  (EXP,IAGP)
Meacham Winn Culler Syndrome  (EXP,IAGP)
Mesothelioma  (IAGP)
nemaline myopathy 2  (IAGP)
nephroblastoma  (EXP,IAGP,IEA,IEP)
nephrotic syndrome  (IAGP)
nephrotic syndrome type 1  (IAGP)
nephrotic syndrome type 2  (IAGP)
nephrotic syndrome type 4  (IAGP)
neurilemmoma  (EXP)
osteosarcoma  (EXP)
ovarian cancer  (IAGP)
ovarian serous carcinoma  (IEP)
pancreatic cancer  (EXP)
Peritoneal Neoplasms  (EXP)
primary ovarian insufficiency  (EXP,IAGP)
proteinuria  (IAGP)
renal Wilms' tumor  (IMP)
spermatogenic failure 57  (IAGP)
WAGR syndrome  (EXP,IAGP,IEA)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(S)-naringenin  (EXP)
14-Deoxy-11,12-didehydroandrographolide  (EXP)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2-ethoxyethanol  (ISO)
2-methoxyethanol  (ISO)
3,7-dihydropurine-6-thione  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-hydroxyphenyl retinamide  (ISO)
5-fluorouracil  (ISO)
acetic acid  (ISO)
all-trans-retinoic acid  (EXP,ISO)
allethrin  (ISO)
ammonium chloride  (ISO)
amphibole asbestos  (ISO)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
atorvastatin calcium  (ISO)
atrazine  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisdemethoxycurcumin  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
bortezomib  (EXP)
bromochloroacetic acid  (ISO)
Butylbenzyl phthalate  (ISO)
cadmium atom  (ISO)
caffeine  (ISO)
cannabidiol  (EXP,ISO)
carbamazepine  (EXP)
carbon nanotube  (ISO)
carmustine  (EXP)
CGP 52608  (EXP)
chloroprene  (ISO)
chrysene  (ISO)
cisplatin  (EXP)
cobalt dichloride  (EXP)
colforsin daropate hydrochloride  (EXP)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
corticosterone  (ISO)
crocidolite asbestos  (ISO)
curcumin  (EXP)
cyhalothrin  (ISO)
cypermethrin  (ISO)
dapagliflozin  (ISO)
demethoxycurcumin  (EXP)
desferrioxamine B  (EXP)
dexamethasone  (ISO)
diallyl trisulfide  (ISO)
diarsenic trioxide  (EXP)
diazinon  (ISO)
dibutyl phthalate  (ISO)
dieldrin  (ISO)
diethyl phthalate  (ISO)
diethylstilbestrol  (ISO)
diisobutyl phthalate  (ISO)
diisononyl phthalate  (ISO)
dioxygen  (EXP)
diuron  (ISO)
ergosta-4,6,8(14),22-tetraen-3-one  (ISO)
ethanol  (ISO)
fenvalerate  (ISO)
flavonoids  (ISO)
formaldehyde  (ISO)
fructose  (ISO)
fulvestrant  (EXP)
furan  (ISO)
genistein  (ISO)
gentamycin  (ISO)
Indeno[1,2,3-cd]pyrene  (ISO)
lead(0)  (EXP)
lipopolysaccharide  (EXP)
losartan  (ISO)
malathion  (EXP)
manganese atom  (EXP)
manganese(0)  (EXP)
manganese(II) chloride  (EXP)
mercaptopurine  (ISO)
methapyrilene  (EXP)
nickel subsulfide  (ISO)
nitric oxide  (ISO)
nitrofen  (ISO)
Pachymic acid  (ISO)
paracetamol  (ISO)
paraquat  (ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorononanoic acid  (ISO)
potassium dichromate  (ISO)
progesterone  (EXP)
prostaglandin E2  (EXP)
purine-6-thiol  (ISO)
pyrethrins  (ISO)
quercetin  (EXP)
resmethrin  (ISO)
resveratrol  (EXP)
rosuvastatin calcium  (ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
silicon dioxide  (ISO)
sirolimus  (EXP)
sodium arsenite  (EXP,ISO)
spironolactone  (ISO)
staurosporine  (EXP)
tamoxifen  (EXP)
tetrachloromethane  (ISO)
tetraphene  (ISO)
Theaflavin 3,3'-digallate  (EXP)
thioacetamide  (ISO)
titanium dioxide  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
triphenylstannane  (ISO)
valproic acid  (EXP)
vitamin E  (ISO)
zearalenone  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
adrenal cortex formation  (ISS)
adrenal gland development  (IGI)
apoptotic process  (ISO)
branching involved in ureteric bud morphogenesis  (IGI)
camera-type eye development  (ISO,ISS)
cardiac muscle cell fate commitment  (ISS)
cellular response to cAMP  (IEP)
cellular response to gonadotropin stimulus  (IDA)
diaphragm development  (ISS)
epithelial cell differentiation  (ISS)
flagellated sperm motility  (ISO)
germ cell development  (ISO,ISS)
glomerular basement membrane development  (IMP)
glomerulus development  (IGI)
gonad development  (ISS)
heart development  (IGI)
kidney development  (IGI)
male genitalia development  (ISS)
male gonad development  (IEP,ISO)
mesenchymal cell apoptotic process involved in metanephros development  (ISO)
mesenchymal to epithelial transition  (ISS)
mesonephros development  (ISO)
metanephric comma-shaped body morphogenesis  (ISO)
metanephric epithelium development  (IEP)
metanephric mesenchyme development  (ISS)
metanephric S-shaped body morphogenesis  (IGI)
metanephros development  (ISO)
negative regulation of apoptotic process  (IBA,IGI)
negative regulation of cell growth  (IDA)
negative regulation of cell population proliferation  (IBA,IDA)
negative regulation of DNA-templated transcription  (IDA)
negative regulation of female gonad development  (ISS)
negative regulation of gene expression via chromosomal CpG island methylation  (IMP)
negative regulation of mesenchymal cell apoptotic process involved in metanephros development  (ISO)
negative regulation of metanephric glomerular mesangial cell proliferation  (ISS)
negative regulation of transcription by RNA polymerase II  (IDA,IMP)
negative regulation of translation  (IDA)
podocyte development  (ISO)
podocyte differentiation  (ISS)
positive regulation of apoptotic process  (IDA)
positive regulation of DNA-templated transcription  (IDA,IGI)
positive regulation of gene expression  (IMP)
positive regulation of heart growth  (ISS)
positive regulation of male gonad development  (ISS)
positive regulation of metanephric ureteric bud development  (ISS)
positive regulation of miRNA transcription  (IMP)
positive regulation of transcription by RNA polymerase II  (IDA,ISO)
posterior mesonephric tubule development  (ISS)
regulation of animal organ formation  (ISS)
regulation of DNA-templated transcription  (IEA,ISO,ISS,NAS)
regulation of gene expression  (ISO)
regulation of transcription by RNA polymerase II  (IBA,IEA,ISO,ISS)
RNA splicing  (ISS)
seminiferous tubule development  (ISO)
Sertoli cell development  (ISO)
sex determination  (IDA,ISO)
single fertilization  (ISO)
spermatogenesis  (ISO)
thorax and anterior abdomen determination  (ISS)
tissue development  (ISS)
ureteric bud development  (ISS)
vasculogenesis  (ISO,ISS)
visceral serous pericardium development  (IGI)

Cellular Component
cytoplasm  (IEA,ISS)
cytosol  (IDA)
nuclear speck  (IDA,IEA)
nucleolus  (IEA)
nucleoplasm  (IDA,IEA)
nucleus  (IDA,IEA)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abdominal distention  (IAGP)
Abdominal mass  (IAGP)
Abdominal pain  (IAGP)
Abnormal cardiovascular system morphology  (IAGP)
Abnormal fallopian tube morphology  (IAGP)
Abnormal internal genitalia  (IAGP)
Abnormal labia morphology  (IAGP)
Abnormal lung lobation  (IAGP)
Abnormal peritoneum morphology  (IAGP)
Abnormal scrotum morphology  (IAGP)
Abnormal sex determination  (IAGP)
Abnormal uterus morphology  (IAGP)
Abnormal vagina morphology  (IAGP)
Abnormality of the nervous system  (IAGP)
Abnormality of the spleen  (IAGP)
Abnormality of the uterus  (IAGP)
Absence of secondary sex characteristics  (IAGP)
Accessory spleen  (IAGP)
Acute myeloid leukemia  (IAGP)
Adrenal insufficiency  (IAGP)
Ambiguous genitalia  (IAGP)
Ambiguous genitalia, female  (IAGP)
Ambiguous genitalia, male  (IAGP)
Anemia  (IAGP)
Aniridia  (IAGP)
Anomalous pulmonary venous return  (IAGP)
Anterior subcapsular cataract  (IAGP)
Aortic valve stenosis  (IAGP)
Aplasia of the left hemidiaphragm  (IAGP)
Aplasia of the right hemidiaphragm  (IAGP)
Aplasia/Hypoplasia of the iris  (IAGP)
Aplasia/Hypoplasia of the lungs  (IAGP)
Ascites  (IAGP)
Atrial septal defect  (IAGP)
Autosomal dominant inheritance  (IAGP)
Azoospermia  (IAGP)
B Acute Lymphoblastic Leukemia  (IAGP)
Bicornuate uterus  (IAGP)
Bicuspid aortic valve  (IAGP)
Bilateral ptosis  (IAGP)
Blind vagina  (IAGP)
Cachexia  (IAGP)
Cardiac total anomalous pulmonary venous connection  (IAGP)
Cataract  (IAGP)
Childhood onset  (IAGP)
Chorioretinal hypopigmentation  (IAGP)
Chronic kidney disease  (IAGP)
Clitoral hypertrophy  (IAGP)
Coarctation of aorta  (IAGP)
Common atrium  (IAGP)
Congenital alveolar dysplasia  (IAGP)
Congenital diaphragmatic hernia  (IAGP)
Congenital onset  (IAGP)
Conotruncal defect  (IAGP)
Contiguous gene syndrome  (IAGP)
Corneal erosion  (IAGP)
Corneal neovascularization  (IAGP)
Crossed fused renal ectopia  (IAGP)
Cryptorchidism  (IAGP)
Death in childhood  (IAGP)
Death in infancy  (IAGP)
Decreased fertility in females  (IAGP)
Decreased serum estradiol  (IAGP)
Decreased serum testosterone concentration  (IAGP)
Decreased testicular size  (IAGP)
Delayed puberty  (IAGP)
Delayed skeletal maturation  (IAGP)
Dextrocardia  (IAGP)
Diaphragmatic eventration  (IAGP)
Diffuse mesangial sclerosis  (IAGP)
Displacement of the urethral meatus  (IAGP)
Duplication of renal pelvis  (IAGP)
Dysfunction of lateral corticospinal tracts  (IAGP)
Dyspnea  (IAGP)
Ectopia lentis  (IAGP)
Ectopia pupillae  (IAGP)
Ectopic kidney  (IAGP)
Edema  (IAGP)
Elevated circulating follicle stimulating hormone level  (IAGP)
Elevated circulating luteinizing hormone level  (IAGP)
Enlarged kidney  (IAGP)
Epicanthus  (IAGP)
Everted lower lip vermilion  (IAGP)
Exotropia  (IAGP)
Female external genitalia in individual with 46,XY karyotype  (IAGP)
Fever  (IAGP)
Foamy urine  (IAGP)
Focal segmental glomerulosclerosis  (IAGP)
Glaucoma  (IAGP)
Glomerulopathy  (IAGP)
Glucose intolerance  (IAGP)
Gonadal dysgenesis  (IAGP)
Gonadal dysgenesis with female appearance, male  (IAGP)
Gonadal tissue inappropriate for external genitalia or chromosomal sex  (IAGP)
Gonadoblastoma  (IAGP)
Gynecomastia  (IAGP)
Headache  (IAGP)
Hearing abnormality  (IAGP)
Hemihypertrophy  (IAGP)
Hepatomegaly  (IAGP)
Horseshoe kidney  (IAGP)
Hydrometrocolpos  (IAGP)
Hypercalcemia  (IAGP)
Hypergonadotropic hypogonadism  (IAGP)
Hypertension  (IAGP)
Hypoalbuminemia  (IAGP)
Hypogonadotropic hypogonadism  (IAGP)
Hypoplasia of penis  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypoplasia of the fovea  (IAGP)
Hypoplasia of the iris  (IAGP)
Hypoplasia of the vagina  (IAGP)
Hypoplastic left heart  (IAGP)
Hypospadias  (IAGP)
Ileus  (IAGP)
Increased circulating gonadotropin level  (IAGP)
Increased proinsulin:insulin ratio  (IAGP)
Intellectual disability  (IAGP)
Irritability  (IAGP)
Lymphadenopathy  (IAGP)
Macroscopic hematuria  (IAGP)
Macular agenesis  (IAGP)
Malaise  (IAGP)
Male infertility  (IAGP)
Male pseudohermaphroditism  (IAGP)
Malignant mesothelioma  (IAGP)
Mediastinal lymphadenopathy  (IAGP)
Microcephaly  (IAGP)
Micrognathia  (IAGP)
Micropenis  (IAGP)
Microscopic hematuria  (IAGP)
Minimal change glomerulonephritis  (IAGP)
Nausea and vomiting  (IAGP)
Neonatal death  (IAGP)
Neonatal respiratory distress  (IAGP)
Neoplasm  (IAGP)
Neoplasm of the central nervous system  (IAGP)
Neoplasm of the liver  (IAGP)
Neoplasm of the lung  (IAGP)
Neoplasm of the pancreas  (IAGP)
Nephroblastoma  (IAGP)
Nephropathy  (IAGP)
Nephrotic range proteinuria  (IAGP)
Nephrotic syndrome  (IAGP)
Nystagmus  (IAGP)
Obesity  (IAGP)
Opacification of the corneal stroma  (IAGP)
Optic nerve hypoplasia  (IAGP)
Osteoporosis  (IAGP)
Ovarian gonadoblastoma  (IAGP)
Ovarian neoplasm  (IAGP)
Partial anomalous pulmonary venous return  (IAGP)
Patent ductus arteriosus  (IAGP)
Periorbital edema  (IAGP)
Peritonitis  (IAGP)
Persistent left superior vena cava  (IAGP)
Polycystic ovaries  (IAGP)
Polycythemia  (IAGP)
Polymicrogyria  (IAGP)
Posterolateral diaphragmatic hernia  (IAGP)
Premature ovarian insufficiency  (IAGP)
Primary amenorrhea  (IAGP)
Primary gonadal insufficiency  (IAGP)
Progressive  (IAGP)
Proteinuria  (IAGP)
Ptosis  (IAGP)
Pulmonary hypoplasia  (IAGP)
Pulmonary sequestration  (IAGP)
Reduced von Willebrand factor activity  (IAGP)
Renal insufficiency  (IAGP)
Respiratory tract infection  (IAGP)
Retinal vascular tortuosity  (IAGP)
Right aortic arch  (IAGP)
Sarcoma  (IAGP)
Scimitar anomaly  (IAGP)
Scoliosis  (IAGP)
Second trimester onset  (IAGP)
Septate vagina  (IAGP)
Short stature  (IAGP)
Single umbilical artery  (IAGP)
Situs inversus totalis  (IAGP)
Sparse axillary hair  (IAGP)
Sparse pubic hair  (IAGP)
Stage 5 chronic kidney disease  (IAGP)
Steroid-resistant nephrotic syndrome  (IAGP)
Stillbirth  (IAGP)
Strabismus  (IAGP)
Streak ovary  (IAGP)
Testicular dysgenesis  (IAGP)
Testicular gonadoblastoma  (IAGP)
Testicular neoplasm  (IAGP)
Tetralogy of Fallot  (IAGP)
Transposition of the great arteries  (IAGP)
True hermaphroditism  (IAGP)
Typified by somatic mosaicism  (IAGP)
Urogenital sinus anomaly  (IAGP)
Uterus didelphys  (IAGP)
Vaginal atresia  (IAGP)
Vanishing testis  (IAGP)
Varicocele  (IAGP)
Ventricular septal defect  (IAGP)
Visual impairment  (IAGP)
Weight loss  (IAGP)
Wide anterior fontanel  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. The genetic association database. Becker KG, etal., Nat Genet. 2004 May;36(5):431-2.
2. Pathologically decreased expression of miR-193a contributes to metastasis by targeting WT1-E-cadherin axis in non-small cell lung cancers. Chen J, etal., J Exp Clin Cancer Res. 2016 Nov 7;35(1):173. doi: 10.1186/s13046-016-0450-8.
3. Homozygous somatic Wt1 point mutations in sporadic unilateral Wilms tumor. Coppes MJ, etal., Proc Natl Acad Sci U S A. 1993 Feb 15;90(4):1416-9.
4. A necropsy case of Denys-Drash syndrome with a WT1 mutation in exon 7. Fukuzawa R, etal., J Med Genet. 2002 Aug;39(8):e48.
5. Expression of the 11p13 Wilms' tumor gene, WT1, correlates with histologic category of Wilms' tumor. Gerald WL, etal., Am J Pathol. 1992 May;140(5):1031-7.
6. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
7. Combination of MUC5ac and WT-1 immunohistochemistry is useful in distinguishing pancreatic ductal carcinoma from ovarian serous carcinoma in effusion cytology. Han L, etal., Diagn Cytopathol. 2009 Oct 23.
8. Dual usages of single Wilms' tumor 1 immunohistochemistry in evaluation of breast tumors: a preliminary study of 30 cases. Li JH and Man YG, Cancer Biomark. 2009;5(3):109-16.
9. Wilms' tumor suppressor (WT1) is a mediator of neuronal degeneration associated with the pathogenesis of Alzheimer's disease. Lovell MA, etal., Brain Res. 2003 Sep 5;983(1-2):84-96.
10. Accumulation of malignant renal stem cells is associated with epigenetic changes in normal renal progenitor genes. Metsuyanim S, etal., Stem Cells. 2008 Jul;26(7):1808-17. doi: 10.1634/stemcells.2007-0322. Epub 2008 May 8.
11. Immunohistochemical detection of WT1 protein in endometrial cancer. Ohno S, etal., Anticancer Res. 2009 May;29(5):1691-5.
12. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
13. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
14. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
15. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
16. Therapeutic potential of human induced pluripotent stem cells and renal progenitor cells in experimental chronic kidney disease. Ribeiro PC, etal., Stem Cell Res Ther. 2020 Dec 9;11(1):530. doi: 10.1186/s13287-020-02060-4.
17. Adenomatoid tumors of the female and male genital tracts: a clinicopathological and immunohistochemical study of 44 cases. Sangoi AR, etal., Mod Pathol. 2009 Sep;22(9):1228-35. Epub 2009 Jun 19.
Additional References at PubMed
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