Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7490
Gene name Gene Name - the full gene name approved by the HGNC.
WT1 transcription factor
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
WT1
Synonyms (NCBI Gene) Gene synonyms aliases
AWT1, GUD, NPHS4, WAGR, WIT-2, WT-1, WT33
Disease Acronyms (UniProt) Disease acronyms from UniProt database
NPHS4
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11p13
Summary Summary of gene provided in NCBI Entrez 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 muta
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs28941777 A>G Pathogenic Coding sequence variant, missense variant, non coding transcript variant
rs28941778 C>A,T Pathogenic, likely-pathogenic Coding sequence variant, missense variant, non coding transcript variant
rs28941779 A>G,T Pathogenic Coding sequence variant, missense variant, non coding transcript variant
rs28942089 G>A Pathogenic Coding sequence variant, missense variant, non coding transcript variant
rs121907900 G>A Likely-pathogenic, pathogenic Coding sequence variant, non coding transcript variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT000817 hsa-miR-15a-5p qRT-PCR, proteomics analysis 18362358
MIRT000816 hsa-miR-16-5p qRT-PCR, proteomics analysis 18362358
MIRT003966 hsa-miR-212-3p Microarray 17875710
MIRT610238 hsa-miR-8485 HITS-CLIP 19536157
MIRT610238 hsa-miR-8485 HITS-CLIP 19536157
Transcription factors
Transcription factor Regulation Reference
CTCF Unknown 24534946
EP300 Activation 15752709;18064385
ETS1 Activation 18064385
GATA1 Activation 19212333
GATA1 Unknown 10360378
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 7585606
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IMP 23042785
GO:0000976 Function Transcription regulatory region sequence-specific DNA binding IDA 1332065, 7585606, 7588596, 9815658, 16467207, 23042785
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
607102 12796 ENSG00000184937
Protein
UniProt ID P19544
Protein name Wilms tumor protein (WT33)
Protein 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:17716689, PubMed:25258363, PubMed:7862533). Regulates the expressi
PDB 1XF7 , 2JP9 , 2JPA , 2PRT , 3HPJ , 3MYJ , 4R2E , 4R2P , 4R2Q , 4R2R , 4R2S , 4WUU , 5KL2 , 5KL3 , 5KL4 , 5KL5 , 5KL6 , 5KL7 , 6B0O , 6B0P , 6B0Q , 6B0R , 6BLW , 6RSY , 6WLH , 7BBG , 8ISN
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02165 WT1 1 321 Family
PF00096 zf-C2H2 353 377 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 383 405 Zinc finger, C2H2 type Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in the kidney and a subset of hematopoietic cells.
Sequence
Sequence length 449
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  
  Transcriptional misregulation in cancer  
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
46, xy partial gonadal dysgenesis 46,XY partial gonadal dysgenesis rs193922688 25613702
Anemia Anemia rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966
View all (89 more)
Aniridia Aniridia, Aniridia type 1 rs1565200471, rs121907912, rs121907915, rs121907913, rs121907914, rs1131692318, rs121907916, rs121907917, rs794726661, rs121907918, rs121907920, rs121907922, rs121907927, rs121907928, rs878852979
View all (159 more)
Atrial septal defect Atrial Septal Defects rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074
View all (25 more)
Unknown
Disease term Disease name Evidence References Source
Ambiguous genitalia Ambiguous Genitalia, Ambiguous genitalia, female ClinVar
Desmoplastic tumor Desmoplastic Small Round Cell Tumor ClinVar
Ptosis Blepharoptosis, Ptosis ClinVar
Nephrotic Syndrome familial idiopathic steroid-resistant nephrotic syndrome GenCC
Associations from Text Mining
Disease Name Relationship Type References
46 XX Disorders of Sex Development Associate 30294972
46 XX Testicular Disorders of Sex Development Associate 30294972
Adenocarcinoma Associate 11570906, 23706170, 7856747
Adenocarcinoma Mucinous Associate 18469795
Adenocarcinoma of Lung Associate 16547468, 33540574, 35011587
Adenoma Associate 12841869, 12890744, 26248896
Adenoma Pleomorphic Associate 21057459, 21063414
Adenomatoid Tumor Associate 19543245
Albuminuria Associate 34246281, 34608521
Alzheimer Disease Associate 24005853, 25391383