Endometriosis Knowledgebase

Search Result

Gene id

7490

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

WT1 Gene UCSC Ensembl

Aliases

AWT1, EWS-WT1, GUD, NPHS4, WAGR, WIT-2, WT33

Gene name

Wilms tumor 1

Alternate names

Wilms tumor protein, Wilms tumor protein isoform Ex4a(+),

Gene location

11p13 (32435534: 32387774) Exons: 11 NC_000011.10

Gene summary(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]

OMIM

607102

Protein Summary

Protein general information

P19544

Name: Wilms tumor protein (WT33)

Length: 449 Mass: 49,188

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

Sequence

MGSDVRDLNALLPAVPSLGGGGGCALPVSGAAQWAPVLDFAPPGASAYGSLGGPAPPPAPPPPPPPPPHSFIKQE
PSWGGAEPHEEQCLSAFTVHFSGQFTGTAGACRYGPFGPPPPSQASSGQARMFPNAPYLPSCLESQPAIRNQGYS
TVTFDGTPSYGHTPSHHAAQFPNHSFKHEDPMGQQGSLGEQQYSVPPPVYGCHTPTDSCTGSQALLLRTPYSSDN
LYQMTSQLECMTWNQMNLGATLKGVAAGSSSSVKWTEGQSNHSTGYESDNHTTPILCGAQYRIHTHGVFRGIQDV
RRVPGVAPTLVRSASETSEKRPFMCAYPGCNKRYFKLSHLQMHSRKHTGEKPYQCDFKDCERRFSRSDQLKRHQR
RHTGVKPFQCKTCQRKFSRSDHLKTHTRTHTGKTSEKPFSCRWPSCQKKFARSDELVRHHNMHQRNMTKLQLAL

Structural information

Motifs	KTS motif.(408-410)
Interpro:	IPR017987 IPR000976 IPR013087
Prosite:	PS00028 PS50157
Pfam:	PF02165
PDB:	1LU6 1XF7 2G7T 2G7V 2G7W 2G7X 2JP9 2JPA 2PRT 3HPJ 3MYJ 4R2E 4R2P 4R2Q 4R2R 4R2S 4WUU 5KL2 5KL3 5KL4 5KL5 5KL6 5KL7
PDBsum:	1LU6 1XF7 2G7T 2G7V 2G7W 2G7X 2JP9 2JPA 2PRT 3HPJ 3MYJ 4R2E 4R2P 4R2Q 4R2R 4R2S 4WUU 5KL2 5KL3 5KL4 5KL5 5KL6 5KL7
MINT:	105556
STRING:	ENSP00000331327;

Other Databases

GeneCards: WT1; Malacards: WT1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	IDA	biological_process
GO:0001077	transcriptional activator activity, RNA polymerase II core promoter proxima l region sequence-specifi c binding	ISS	molecular_function
GO:0001570	vasculogenesis	ISS	biological_process
GO:0001657	ureteric bud development	ISS	biological_process
GO:0001658	branching involved in ure teric bud morphogenesis	IGI	biological_process
GO:0001822	kidney development	IGI	biological_process
GO:0003156	regulation of animal orga n formation	ISS	biological_process
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	ISS	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	NAS	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	NAS	molecular_function
GO:0003723	RNA binding	IEA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005654	nucleoplasm	IDA	cellular_component
GO:0005730	nucleolus	IEA	cellular_component
GO:0005737	cytoplasm	ISS	cellular_component
GO:0006355	regulation of transcripti on, DNA-templated	ISS	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	NAS	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	NAS	biological_process
GO:0006357	regulation of transcripti on from RNA polymerase II promoter	ISS	biological_process
GO:0006366	transcription from RNA po lymerase II promoter	IEA	biological_process
GO:0007281	germ cell development	ISS	biological_process
GO:0007356	thorax and anterior abdom en determination	ISS	biological_process
GO:0007507	heart development	IGI	biological_process
GO:0007530	sex determination	IDA	biological_process
GO:0008270	zinc ion binding	IDA	molecular_function
GO:0008285	negative regulation of ce ll proliferation	IDA	biological_process
GO:0008285	negative regulation of ce ll proliferation	IDA	biological_process
GO:0008380	RNA splicing	ISS	biological_process
GO:0008406	gonad development	ISS	biological_process
GO:0008584	male gonad development	IEP	biological_process
GO:0009888	tissue development	ISS	biological_process
GO:0016607	nuclear speck	IDA	cellular_component
GO:0016607	nuclear speck	IDA	cellular_component
GO:0016607	nuclear speck	IDA	cellular_component
GO:0017148	negative regulation of tr anslation	IDA	biological_process
GO:0030308	negative regulation of ce ll growth	IDA	biological_process
GO:0030308	negative regulation of ce ll growth	IDA	biological_process
GO:0030308	negative regulation of ce ll growth	IDA	biological_process
GO:0030325	adrenal gland development	IGI	biological_process
GO:0030539	male genitalia developmen t	ISS	biological_process
GO:0030855	epithelial cell different iation	ISS	biological_process
GO:0032835	glomerulus development	IGI	biological_process
GO:0032836	glomerular basement membr ane development	IMP	biological_process
GO:0035802	adrenal cortex formation	ISS	biological_process
GO:0043010	camera-type eye developme nt	ISS	biological_process
GO:0043065	positive regulation of ap optotic process	IDA	biological_process
GO:0043066	negative regulation of ap optotic process	IGI	biological_process
GO:0043565	sequence-specific DNA bin ding	IDA	molecular_function
GO:0043565	sequence-specific DNA bin ding	IDA	molecular_function
GO:0043565	sequence-specific DNA bin ding	IDA	molecular_function
GO:0044212	transcription regulatory region DNA binding	IDA	molecular_function
GO:0044212	transcription regulatory region DNA binding	IDA	molecular_function
GO:0044212	transcription regulatory region DNA binding	IDA	molecular_function
GO:0044212	transcription regulatory region DNA binding	IDA	molecular_function
GO:0044212	transcription regulatory region DNA binding	IDA	molecular_function
GO:0045892	negative regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IGI	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IEA	biological_process
GO:0060231	mesenchymal to epithelial transition	ISS	biological_process
GO:0060421	positive regulation of he art growth	ISS	biological_process
GO:0060539	diaphragm development	ISS	biological_process
GO:0060923	cardiac muscle cell fate commitment	ISS	biological_process
GO:0061032	visceral serous pericardi um development	IGI	biological_process
GO:0070742	C2H2 zinc finger domain b inding	IPI	molecular_function
GO:0071320	cellular response to cAMP	IEP	biological_process
GO:0071371	cellular response to gona dotropin stimulus	IDA	biological_process
GO:0072075	metanephric mesenchyme de velopment	ISS	biological_process
GO:0072112	glomerular visceral epith elial cell differentiatio n	ISS	biological_process
GO:0072166	posterior mesonephric tub ule development	ISS	biological_process
GO:0072207	metanephric epithelium de velopment	IEP	biological_process
GO:0072284	metanephric S-shaped body morphogenesis	IGI	biological_process
GO:0072302	negative regulation of me tanephric glomerular mesa ngial cell proliferation	ISS	biological_process
GO:2000020	positive regulation of ma le gonad development	ISS	biological_process
GO:2000195	negative regulation of fe male gonad development	ISS	biological_process
GO:2001076	positive regulation of me tanephric ureteric bud de velopment	ISS	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	IDA	biological_process
GO:0001077	transcriptional activator activity, RNA polymerase II core promoter proxima l region sequence-specifi c binding	ISS	molecular_function
GO:0001570	vasculogenesis	ISS	biological_process
GO:0001657	ureteric bud development	ISS	biological_process
GO:0001658	branching involved in ure teric bud morphogenesis	IGI	biological_process
GO:0001822	kidney development	IGI	biological_process
GO:0003156	regulation of animal orga n formation	ISS	biological_process
GO:0003676	nucleic acid binding	IEA	molecular_function
GO:0003677	DNA binding	IEA	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	ISS	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	NAS	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	NAS	molecular_function
GO:0003723	RNA binding	IEA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005654	nucleoplasm	IEA	cellular_component
GO:0005654	nucleoplasm	IDA	cellular_component
GO:0005730	nucleolus	IEA	cellular_component
GO:0005737	cytoplasm	ISS	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0006351	transcription, DNA-templa ted	IEA	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	IEA	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	ISS	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	IEA	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	NAS	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	NAS	biological_process
GO:0006357	regulation of transcripti on from RNA polymerase II promoter	ISS	biological_process
GO:0006366	transcription from RNA po lymerase II promoter	IEA	biological_process
GO:0007281	germ cell development	ISS	biological_process
GO:0007356	thorax and anterior abdom en determination	ISS	biological_process
GO:0007507	heart development	IGI	biological_process
GO:0007530	sex determination	IDA	biological_process
GO:0008270	zinc ion binding	IDA	molecular_function
GO:0008285	negative regulation of ce ll proliferation	IDA	biological_process
GO:0008285	negative regulation of ce ll proliferation	IDA	biological_process
GO:0008380	RNA splicing	ISS	biological_process
GO:0008406	gonad development	ISS	biological_process
GO:0008584	male gonad development	IEP	biological_process
GO:0009888	tissue development	ISS	biological_process
GO:0016607	nuclear speck	IEA	cellular_component
GO:0016607	nuclear speck	IDA	cellular_component
GO:0016607	nuclear speck	IDA	cellular_component
GO:0016607	nuclear speck	IDA	cellular_component
GO:0017148	negative regulation of tr anslation	IDA	biological_process
GO:0030308	negative regulation of ce ll growth	IDA	biological_process
GO:0030308	negative regulation of ce ll growth	IDA	biological_process
GO:0030308	negative regulation of ce ll growth	IDA	biological_process
GO:0030325	adrenal gland development	IGI	biological_process
GO:0030539	male genitalia developmen t	ISS	biological_process
GO:0030855	epithelial cell different iation	ISS	biological_process
GO:0032835	glomerulus development	IGI	biological_process
GO:0032836	glomerular basement membr ane development	IMP	biological_process
GO:0035802	adrenal cortex formation	ISS	biological_process
GO:0043010	camera-type eye developme nt	ISS	biological_process
GO:0043065	positive regulation of ap optotic process	IDA	biological_process
GO:0043066	negative regulation of ap optotic process	IGI	biological_process
GO:0043565	sequence-specific DNA bin ding	IDA	molecular_function
GO:0043565	sequence-specific DNA bin ding	IDA	molecular_function
GO:0043565	sequence-specific DNA bin ding	IDA	molecular_function
GO:0044212	transcription regulatory region DNA binding	IDA	molecular_function
GO:0044212	transcription regulatory region DNA binding	IDA	molecular_function
GO:0044212	transcription regulatory region DNA binding	IDA	molecular_function
GO:0044212	transcription regulatory region DNA binding	IDA	molecular_function
GO:0044212	transcription regulatory region DNA binding	IDA	molecular_function
GO:0045892	negative regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IGI	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IEA	biological_process
GO:0046872	metal ion binding	IEA	molecular_function
GO:0046872	metal ion binding	IEA	molecular_function
GO:0060231	mesenchymal to epithelial transition	ISS	biological_process
GO:0060421	positive regulation of he art growth	ISS	biological_process
GO:0060539	diaphragm development	ISS	biological_process
GO:0060923	cardiac muscle cell fate commitment	ISS	biological_process
GO:0061032	visceral serous pericardi um development	IGI	biological_process
GO:0070742	C2H2 zinc finger domain b inding	IPI	molecular_function
GO:0071320	cellular response to cAMP	IEP	biological_process
GO:0071371	cellular response to gona dotropin stimulus	IDA	biological_process
GO:0072075	metanephric mesenchyme de velopment	ISS	biological_process
GO:0072112	glomerular visceral epith elial cell differentiatio n	ISS	biological_process
GO:0072166	posterior mesonephric tub ule development	ISS	biological_process
GO:0072207	metanephric epithelium de velopment	IEP	biological_process
GO:0072284	metanephric S-shaped body morphogenesis	IGI	biological_process
GO:0072302	negative regulation of me tanephric glomerular mesa ngial cell proliferation	ISS	biological_process
GO:2000020	positive regulation of ma le gonad development	ISS	biological_process
GO:2000195	negative regulation of fe male gonad development	ISS	biological_process
GO:2001076	positive regulation of me tanephric ureteric bud de velopment	ISS	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	IDA	biological_process
GO:0001077	transcriptional activator activity, RNA polymerase II core promoter proxima l region sequence-specifi c binding	ISS	molecular_function
GO:0001570	vasculogenesis	ISS	biological_process
GO:0001657	ureteric bud development	ISS	biological_process
GO:0001658	branching involved in ure teric bud morphogenesis	IGI	biological_process
GO:0001822	kidney development	IGI	biological_process
GO:0003156	regulation of animal orga n formation	ISS	biological_process
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	ISS	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	NAS	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	NAS	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005654	nucleoplasm	IDA	cellular_component
GO:0005737	cytoplasm	ISS	cellular_component
GO:0006355	regulation of transcripti on, DNA-templated	ISS	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	NAS	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	NAS	biological_process
GO:0006357	regulation of transcripti on from RNA polymerase II promoter	ISS	biological_process
GO:0007281	germ cell development	ISS	biological_process
GO:0007356	thorax and anterior abdom en determination	ISS	biological_process
GO:0007507	heart development	IGI	biological_process
GO:0007530	sex determination	IDA	biological_process
GO:0008270	zinc ion binding	IDA	molecular_function
GO:0008285	negative regulation of ce ll proliferation	IDA	biological_process
GO:0008285	negative regulation of ce ll proliferation	IDA	biological_process
GO:0008380	RNA splicing	ISS	biological_process
GO:0008406	gonad development	ISS	biological_process
GO:0008584	male gonad development	IEP	biological_process
GO:0009888	tissue development	ISS	biological_process
GO:0016607	nuclear speck	IDA	cellular_component
GO:0016607	nuclear speck	IDA	cellular_component
GO:0016607	nuclear speck	IDA	cellular_component
GO:0017148	negative regulation of tr anslation	IDA	biological_process
GO:0030308	negative regulation of ce ll growth	IDA	biological_process
GO:0030308	negative regulation of ce ll growth	IDA	biological_process
GO:0030308	negative regulation of ce ll growth	IDA	biological_process
GO:0030325	adrenal gland development	IGI	biological_process
GO:0030539	male genitalia developmen t	ISS	biological_process
GO:0030855	epithelial cell different iation	ISS	biological_process
GO:0032835	glomerulus development	IGI	biological_process
GO:0032836	glomerular basement membr ane development	IMP	biological_process
GO:0035802	adrenal cortex formation	ISS	biological_process
GO:0043010	camera-type eye developme nt	ISS	biological_process
GO:0043065	positive regulation of ap optotic process	IDA	biological_process
GO:0043066	negative regulation of ap optotic process	IGI	biological_process
GO:0043565	sequence-specific DNA bin ding	IDA	molecular_function
GO:0043565	sequence-specific DNA bin ding	IDA	molecular_function
GO:0043565	sequence-specific DNA bin ding	IDA	molecular_function
GO:0044212	transcription regulatory region DNA binding	IDA	molecular_function
GO:0044212	transcription regulatory region DNA binding	IDA	molecular_function
GO:0044212	transcription regulatory region DNA binding	IDA	molecular_function
GO:0044212	transcription regulatory region DNA binding	IDA	molecular_function
GO:0044212	transcription regulatory region DNA binding	IDA	molecular_function
GO:0045892	negative regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IGI	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0060231	mesenchymal to epithelial transition	ISS	biological_process
GO:0060421	positive regulation of he art growth	ISS	biological_process
GO:0060539	diaphragm development	ISS	biological_process
GO:0060923	cardiac muscle cell fate commitment	ISS	biological_process
GO:0061032	visceral serous pericardi um development	IGI	biological_process
GO:0070742	C2H2 zinc finger domain b inding	IPI	molecular_function
GO:0071320	cellular response to cAMP	IEP	biological_process
GO:0071371	cellular response to gona dotropin stimulus	IDA	biological_process
GO:0072075	metanephric mesenchyme de velopment	ISS	biological_process
GO:0072112	glomerular visceral epith elial cell differentiatio n	ISS	biological_process
GO:0072166	posterior mesonephric tub ule development	ISS	biological_process
GO:0072207	metanephric epithelium de velopment	IEP	biological_process
GO:0072284	metanephric S-shaped body morphogenesis	IGI	biological_process
GO:0072302	negative regulation of me tanephric glomerular mesa ngial cell proliferation	ISS	biological_process
GO:2000020	positive regulation of ma le gonad development	ISS	biological_process
GO:2000195	negative regulation of fe male gonad development	ISS	biological_process
GO:2001076	positive regulation of me tanephric ureteric bud de velopment	ISS	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process

KEGG pathways

hsa05202 Transcriptional misregulation in cancer

Diseases

Associated diseases	References
46 XY disorders of sex development (DSD)	PMID: 21508141
46 XY is gonadal dysgenesis	PMID: 7607640
Abnormal urogenital development	PMID: 1655284
Alzheimer's disease	PMID: 12914969
Ambiguous genitalia	PMID: 12050205
Azoospermia	PMID: 24912414
Bilateral cryptorchidism	PMID: 19048299
Complete androgen insensitivity syndrome (CAIS)	PMID: 10092153
Congenital absence of the uterus and vagina (CAUV)	PMID: 9757958
Cryptorchidism	PMID: 24912414
Denys-Drash syndrome	PMID: 8956030
Endometrial cancer	PMID: 15297187
Endometrial cancer	PMID: 20032452
Endometriosis	PMID: 18722603
Eye diseases	PMID: 18058136
Frasier syndrome	OMIM: 607102
Glomerulosclerosis	KEGG: H00626
Hyperandrogenism	PMID: 22238403
Hypergonadotropic hypogonadism	PMID: 16476716
Hypospadias	PMID: 10092153
Endometriosis	INFBASE19001523
Deeply infiltrating endometriosis	INFBASE18722603
Macrosomia	PMID: 22801570
Male infertility	PMID: 25451826
Meacham syndrome	OMIM: 607102
Mesangial sclerosis	PMID: 7794729
Mesothelioma	OMIM: 607102
Nephrotic syndrome	OMIM: 607102, KEGG: H01657
Non-obstructive azoospermia (NOA)	PMID: 23935527
Polycystic ovary syndrome (PCOS)	PMID: 22238403
Premature ovarian failure ( POF)	PMID: 26358501
WAGR syndrome	PMID: 7687865
Wilms tumor	OMIM: 607102

PubMed references

PMID	Condition	Population details	Infertility_type	Associated_genes	Abstract
18722603	Endometrio sis			WT1	Show abstract
24018808	Endometrio sis	67 ovarian endo metrioid adenoc arcinoma(35 ass ociated with en dometriosis, 32 without endome triosis)	Female infertility	?-catenin cyclin D1 BAF250a PTEN p53 WT1	Show abstract
19001523	Endometrio sis			StAR side chain cleavage P450 3beta-hydroxysteroid-dehydrogenase-2 17-hydroxylase/17-20-lyase aromatase SF1 COUP-TFII WT1	Show abstract