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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Cancer-related genes Disease related genes Human disease related genes Transcription factors
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
11
Cytoband
p13
Chromosome location (bp)
32387775 - 32435564
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Transcription factor that plays an important role in cellular development and cell survival 1. Recognizes and binds to the DNA sequence 5'-GCG(T/G)GGGCG-3' 2,3,4. 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 5. Isoforms containing the KTS motif may bind mRNA and play a role in mRNA metabolism or splicing 6. Isoform 1 has lower affinity for DNA, and can bind RNA 7....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
DNA-binding, RNA-binding
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Transcription, Transcription regulation
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
Metal-binding, Zinc
Gene summary (Entrez)i
Useful information about the gene from Entrez
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]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations COSMIC Translocations Human disease related genes Cancers Cancers of soft tissues and bone Cancers of the urinary system Reproductive system diseases Reproductive system diseases Urinary system diseases Kidney diseases
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Zinc-coordinating DNA-binding domains Cancer-related genes Candidate cancer biomarkers Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations COSMIC Translocations Disease related genes Human disease related genes Cancers Cancers of soft tissues and bone Cancers of the urinary system Reproductive system diseases Reproductive system diseases Urinary system diseases Kidney diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014)
Show all
GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000976[transcription cis-regulatory region binding] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0001570[vasculogenesis] GO:0001657[ureteric bud development] GO:0001658[branching involved in ureteric bud morphogenesis] GO:0001822[kidney development] GO:0003156[regulation of animal organ formation] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0003723[RNA binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005730[nucleolus] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0007281[germ cell development] GO:0007356[thorax and anterior abdomen determination] GO:0007507[heart development] GO:0007530[sex determination] GO:0008270[zinc ion binding] GO:0008285[negative regulation of cell population proliferation] GO:0008380[RNA splicing] GO:0008406[gonad development] GO:0008584[male gonad development] GO:0009888[tissue development] GO:0010385[double-stranded methylated DNA binding] GO:0010628[positive regulation of gene expression] GO:0016607[nuclear speck] GO:0030308[negative regulation of cell growth] GO:0030325[adrenal gland development] GO:0030539[male genitalia development] GO:0030855[epithelial cell differentiation] GO:0032835[glomerulus development] GO:0032836[glomerular basement membrane development] GO:0035802[adrenal cortex formation] GO:0043010[camera-type eye development] GO:0043066[negative regulation of apoptotic process] GO:0043565[sequence-specific DNA binding] GO:0044729[hemi-methylated DNA-binding] GO:0045892[negative regulation of DNA-templated transcription] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046872[metal ion binding] GO:0060231[mesenchymal to epithelial transition] GO:0060421[positive regulation of heart growth] GO:0060539[diaphragm development] GO:0060923[cardiac muscle cell fate commitment] GO:0061032[visceral serous pericardium development] GO:0070742[C2H2 zinc finger domain binding] GO:0071320[cellular response to cAMP] GO:0071371[cellular response to gonadotropin stimulus] GO:0072075[metanephric mesenchyme development] GO:0072112[podocyte differentiation] GO:0072166[posterior mesonephric tubule development] GO:0072207[metanephric epithelium development] GO:0072284[metanephric S-shaped body morphogenesis] GO:0072302[negative regulation of metanephric glomerular mesangial cell proliferation] GO:1902895[positive regulation of miRNA transcription] GO:1905643[positive regulation of DNA methylation] GO:2000020[positive regulation of male gonad development] GO:2000195[negative regulation of female gonad development] GO:2001076[positive regulation of metanephric ureteric bud development]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations COSMIC Translocations Human disease related genes Cancers Cancers of soft tissues and bone Cancers of the urinary system Reproductive system diseases Reproductive system diseases Urinary system diseases Kidney diseases
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Zinc-coordinating DNA-binding domains Cancer-related genes Candidate cancer biomarkers Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations COSMIC Translocations Disease related genes Human disease related genes Cancers Cancers of soft tissues and bone Cancers of the urinary system Reproductive system diseases Reproductive system diseases Urinary system diseases Kidney diseases Mapped to neXtProt neXtProt - Evidence at protein level
Show all
GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000976[transcription cis-regulatory region binding] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0001570[vasculogenesis] GO:0001657[ureteric bud development] GO:0001658[branching involved in ureteric bud morphogenesis] GO:0001822[kidney development] GO:0003156[regulation of animal organ formation] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0003723[RNA binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005730[nucleolus] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0007281[germ cell development] GO:0007356[thorax and anterior abdomen determination] GO:0007507[heart development] GO:0007530[sex determination] GO:0008270[zinc ion binding] GO:0008285[negative regulation of cell population proliferation] GO:0008380[RNA splicing] GO:0008406[gonad development] GO:0008584[male gonad development] GO:0009888[tissue development] GO:0010385[double-stranded methylated DNA binding] GO:0010628[positive regulation of gene expression] GO:0016607[nuclear speck] GO:0030308[negative regulation of cell growth] GO:0030325[adrenal gland development] GO:0030539[male genitalia development] GO:0030855[epithelial cell differentiation] GO:0032835[glomerulus development] GO:0032836[glomerular basement membrane development] GO:0035802[adrenal cortex formation] GO:0043010[camera-type eye development] GO:0043066[negative regulation of apoptotic process] GO:0043565[sequence-specific DNA binding] GO:0044729[hemi-methylated DNA-binding] GO:0045892[negative regulation of DNA-templated transcription] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046872[metal ion binding] GO:0060231[mesenchymal to epithelial transition] GO:0060421[positive regulation of heart growth] GO:0060539[diaphragm development] GO:0060923[cardiac muscle cell fate commitment] GO:0061032[visceral serous pericardium development] GO:0070742[C2H2 zinc finger domain binding] GO:0071320[cellular response to cAMP] GO:0071371[cellular response to gonadotropin stimulus] GO:0072075[metanephric mesenchyme development] GO:0072112[podocyte differentiation] GO:0072166[posterior mesonephric tubule development] GO:0072207[metanephric epithelium development] GO:0072284[metanephric S-shaped body morphogenesis] GO:0072302[negative regulation of metanephric glomerular mesangial cell proliferation] GO:1902895[positive regulation of miRNA transcription] GO:1905643[positive regulation of DNA methylation] GO:2000020[positive regulation of male gonad development] GO:2000195[negative regulation of female gonad development] GO:2001076[positive regulation of metanephric ureteric bud development]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations COSMIC Translocations Human disease related genes Cancers Cancers of soft tissues and bone Cancers of the urinary system Reproductive system diseases Reproductive system diseases Urinary system diseases Kidney diseases
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Zinc-coordinating DNA-binding domains Cancer-related genes Candidate cancer biomarkers Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations COSMIC Translocations Disease related genes Human disease related genes Cancers Cancers of soft tissues and bone Cancers of the urinary system Reproductive system diseases Reproductive system diseases Urinary system diseases Kidney diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014)
Show all
GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000976[transcription cis-regulatory region binding] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0001570[vasculogenesis] GO:0001657[ureteric bud development] GO:0001658[branching involved in ureteric bud morphogenesis] GO:0001822[kidney development] GO:0003156[regulation of animal organ formation] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0003723[RNA binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005730[nucleolus] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0007281[germ cell development] GO:0007356[thorax and anterior abdomen determination] GO:0007507[heart development] GO:0007530[sex determination] GO:0008270[zinc ion binding] GO:0008285[negative regulation of cell population proliferation] GO:0008380[RNA splicing] GO:0008406[gonad development] GO:0008584[male gonad development] GO:0009888[tissue development] GO:0010385[double-stranded methylated DNA binding] GO:0010628[positive regulation of gene expression] GO:0016607[nuclear speck] GO:0030308[negative regulation of cell growth] GO:0030325[adrenal gland development] GO:0030539[male genitalia development] GO:0030855[epithelial cell differentiation] GO:0032835[glomerulus development] GO:0032836[glomerular basement membrane development] GO:0035802[adrenal cortex formation] GO:0043010[camera-type eye development] GO:0043066[negative regulation of apoptotic process] GO:0043565[sequence-specific DNA binding] GO:0044729[hemi-methylated DNA-binding] GO:0045892[negative regulation of DNA-templated transcription] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046872[metal ion binding] GO:0060231[mesenchymal to epithelial transition] GO:0060421[positive regulation of heart growth] GO:0060539[diaphragm development] GO:0060923[cardiac muscle cell fate commitment] GO:0061032[visceral serous pericardium development] GO:0070742[C2H2 zinc finger domain binding] GO:0071320[cellular response to cAMP] GO:0071371[cellular response to gonadotropin stimulus] GO:0072075[metanephric mesenchyme development] GO:0072112[podocyte differentiation] GO:0072166[posterior mesonephric tubule development] GO:0072207[metanephric epithelium development] GO:0072284[metanephric S-shaped body morphogenesis] GO:0072302[negative regulation of metanephric glomerular mesangial cell proliferation] GO:1902895[positive regulation of miRNA transcription] GO:1905643[positive regulation of DNA methylation] GO:2000020[positive regulation of male gonad development] GO:2000195[negative regulation of female gonad development] GO:2001076[positive regulation of metanephric ureteric bud development]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Zinc-coordinating DNA-binding domains Cancer-related genes Candidate cancer biomarkers Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations COSMIC Translocations Disease related genes Human disease related genes Cancers Cancers of soft tissues and bone Cancers of the urinary system Reproductive system diseases Reproductive system diseases Urinary system diseases Kidney diseases Mapped to neXtProt neXtProt - Evidence at protein level
Show all
GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000976[transcription cis-regulatory region binding] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0001570[vasculogenesis] GO:0001657[ureteric bud development] GO:0001658[branching involved in ureteric bud morphogenesis] GO:0001822[kidney development] GO:0003156[regulation of animal organ formation] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0003723[RNA binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005730[nucleolus] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0007281[germ cell development] GO:0007356[thorax and anterior abdomen determination] GO:0007507[heart development] GO:0007530[sex determination] GO:0008270[zinc ion binding] GO:0008285[negative regulation of cell population proliferation] GO:0008380[RNA splicing] GO:0008406[gonad development] GO:0008584[male gonad development] GO:0009888[tissue development] GO:0010385[double-stranded methylated DNA binding] GO:0010628[positive regulation of gene expression] GO:0016607[nuclear speck] GO:0030308[negative regulation of cell growth] GO:0030325[adrenal gland development] GO:0030539[male genitalia development] GO:0030855[epithelial cell differentiation] GO:0032835[glomerulus development] GO:0032836[glomerular basement membrane development] GO:0035802[adrenal cortex formation] GO:0043010[camera-type eye development] GO:0043066[negative regulation of apoptotic process] GO:0043565[sequence-specific DNA binding] GO:0044729[hemi-methylated DNA-binding] GO:0045892[negative regulation of DNA-templated transcription] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046872[metal ion binding] GO:0060231[mesenchymal to epithelial transition] GO:0060421[positive regulation of heart growth] GO:0060539[diaphragm development] GO:0060923[cardiac muscle cell fate commitment] GO:0061032[visceral serous pericardium development] GO:0070742[C2H2 zinc finger domain binding] GO:0071320[cellular response to cAMP] GO:0071371[cellular response to gonadotropin stimulus] GO:0072075[metanephric mesenchyme development] GO:0072112[podocyte differentiation] GO:0072166[posterior mesonephric tubule development] GO:0072207[metanephric epithelium development] GO:0072284[metanephric S-shaped body morphogenesis] GO:0072302[negative regulation of metanephric glomerular mesangial cell proliferation] GO:1902895[positive regulation of miRNA transcription] GO:1905643[positive regulation of DNA methylation] GO:2000020[positive regulation of male gonad development] GO:2000195[negative regulation of female gonad development] GO:2001076[positive regulation of metanephric ureteric bud development]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations COSMIC Translocations Human disease related genes Cancers Cancers of soft tissues and bone Cancers of the urinary system Reproductive system diseases Reproductive system diseases Urinary system diseases Kidney diseases
The Human Protein Atlas project is funded
