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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

WT1 Gene

protein-coding GIFtS: 69
GCID: GC11M032365

Wilms tumor 1

(Previous symbol: GUD)

Explore 192 diseases affiliated with
WT1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Wilms Tumor 1¹ ²		NPHS4² ⁵
AWT1¹ ²		EWS-WT1²
GUD¹ ²		Amino-Terminal Domain Of EWS²
WAGR¹ ²		Last Three Zinc Fingers Of The DNA-Binding Domain Of WT1²
WIT-2¹ ²		Wilms Tumor Protein²
WT33² ³

External Ids:	HGNC: 12796¹	Entrez Gene: 7490²	Ensembl: ENSG00000184937⁷	OMIM: 607102⁵	UniProtKB: P19544³

Export aliases for WT1 gene to outside databases

Previous GC identifers: GC11M034005 GC11U900002 GC11M032448 GC11M032373 GC11M032104

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for WT1:

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 Wilm's tumors. 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 site 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, Oct 2010)

UniProtKB/Swiss-Prot: WT1_HUMAN, P19544

Function: Transcription factor that plays an important role in cellular development and cell survival. Regulates the

expression of numerous target genes, including EPO. Plays an essential role for development of the urogenital system.

Recognizes and binds to the DNA sequence 5'-CGCCCCCGC-3'. 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.

Isoforms containing the KTS motif may bind mRNA and play a role in mRNA metabolism or splicing. Isoform 1 has lower

affinity for DNA, and can bind RNA

Gene Wiki entry for WT1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000011.9 NC_018922.1 NT_009237.18

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the WT1 gene promoter:
TBP GATA-1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): WT1 promoter sequence

Search SABiosciences Chromatin IP Primers for WT1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat WT1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11p13 Ensembl cytogenetic band: 11p13 HGNC cytogenetic band: 11p13

WT1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
WT1 gene location

GeneLoc information about chromosome 11 GeneLoc Exon Structure

GeneLoc location for GC11M032365: view genomic region (about GC identifiers)

Start:	32,409,321 bp from pter	End:	32,457,176 bp from pter
Size:	47,856 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: WT1_HUMAN, P19544 (See protein sequence)

Recommended Name: Wilms tumor protein

Size: 449 amino acids; 49188 Da

Subunit: 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

Subcellular location: Nucleus. Nucleus, nucleolus. Cytoplasm (By similarity). Note=Shuttles between nucleus and

cytoplasm (By similarity)

Subcellular location: Isoform 1: Nucleus speckle

Subcellular location: Isoform 4: Nucleus, nucleoplasm

Rna editing: Modified_positions=281; Note=Partially edited

Miscellaneous: Presence of the KTS motif hinders interactions between DNA and zinc-finger 4

Sequence caution: Sequence=AAB33443.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown

origin in the N-terminal part; Sequence=CAA35956.1; Type=Erroneous initiation; Note=Translation N-terminally

shortened; Sequence=CAA35956.1; Type=Miscellaneous discrepancy; Note=Unusual initiator. The initiator methionine is

coded by a non-canonical CTG leucine codon; Sequence=CAC39220.3; Type=Erroneous initiation; Note=Translation

N-terminally shortened; Sequence=CAI95758.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;

Sequence=CAI95759.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;

6/11 PDB 3D structures from and Proteopedia for WT1 (see all 11):

1LU6 (3D)

1XF7 (3D)

2G7T (3D)

2G7V (3D)

2G7W (3D)

2G7X (3D)

Secondary accessions: A8K6S1 B3KSA5 Q15881 Q16256 Q16575 Q4VXV4 Q4VXV5 Q4VXV6 Q8IYZ5

Alternative splicing, Alternative initiation: 8 isoforms: P19544-1 P19544-2 P19544-3 P19544-4 P19544-6 P19544-7 P19544-8 P19544-9

(No experimental confirmation available)

Explore the universe of human proteins at neXtProt for WT1: NX_P19544

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P19544

WT1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (5 alternative transcripts):

NP_000369.3 NP_001185480.1 NP_001185481.1 NP_077742.2 NP_077744.3

ENSEMBL proteins:

ENSP00000368370 ENSP00000368368 ENSP00000331327 ENSP00000435307 ENSP00000415516

ENSP00000413452 ENSP00000435624 ENSP00000436292 ENSP00000435351

Human Recombinant Protein Products:

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	GenScript Custom Purified and Recombinant Proteins Services for WT1
	Novus Biologicals WT1 Proteins Novus Biologicals WT1 Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for WT1

Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IDA	16934801
GO:0005654	nucleoplasm	IDA	15520190
GO:0005730	nucleolus	IEA	--
GO:0005737	cytoplasm	ISS	--
GO:0016607	nuclear speck	IDA	16934801

WT1 for ontologies About GeneDecksing

WT1 Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of WT1
	R&D Systems Antibodies for WT1
	OriGene Antibodies (see all 4): WT1 OriGene Custom Antibody Services for WT1
	GenScript Custom Superior Antibodies Services for WT1
	Novus Biologicals WT1 Antibodies
	Abcam antibodies for WT1
	Uscn Antibodies for WT1
	ThermoFisher Antibodies for WT1

Assay Products for WT1:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for WT1
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for WT1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

WT1 for domains About GeneDecksing

5 InterPro domains/families:

IPR015880 Znf_C2H2-like

IPR000976 Wilms_tumour_N

IPR017987 Wilms_tumour

IPR013087 Znf_C2H2/integrase_DNA-bd

IPR007087 Znf_C2H2

Graphical View of Domain Structure for InterPro Entry P19544

ProtoNet protein and cluster: P19544

2 Blocks protein families:

IPB000976 Wilm's tumour protein signature

IPB007086 C2H2-type zinc finger signature

UniProtKB/Swiss-Prot: WT1_HUMAN, P19544

Similarity: Belongs to the EGR C2H2-type zinc-finger protein family

Similarity: Contains 4 C2H2-type zinc fingers

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: WT1_HUMAN, P19544

Function: Transcription factor that plays an important role in cellular development and cell survival. Regulates the

expression of numerous target genes, including EPO. Plays an essential role for development of the urogenital system.

Recognizes and binds to the DNA sequence 5'-CGCCCCCGC-3'. 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.

Isoforms containing the KTS motif may bind mRNA and play a role in mRNA metabolism or splicing. Isoform 1 has lower

affinity for DNA, and can bind RNA

Genatlas biochemistry entry for WT1:

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

miRNA Products:		miRTarBase miRNAs that target WT1: hsa-mir-212 (MIRT003966)

		OriGene 3'-UTR Clone (see all 4): WT1 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat WT1
		6 QIAGEN miScript miRNA Assays for microRNAs that regulate WT1:
		hsa-miR-498 hsa-miR-3690 hsa-miR-361-5p hsa-miR-657 hsa-miR-29a* hsa-miR-590-3p
		SwitchGear 3'UTR luciferase reporter plasmid: WT1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for WT1 (see all 7) OriGene shRNA RFP: WT1 OriGene siRNA: WT1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat WT1

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for WT1

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for WT1 (see all 8) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for WT1 (see all 4) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 5): WT1 (NM_000378)
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		DNA2.0 Custom Codon Optimized Gene Synthesis Service for WT1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat WT1

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for WT1
		Search LifeMap BioReagents cell lines for WT1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for WT1

Gene Ontology (GO): 5/11 molecular function terms (GO ID links to tree view) (see all 11): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001077	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	ISS	--
GO:0003676	nucleic acid binding	--	--
GO:0003690	double-stranded DNA binding	--	--
GO:0003700	sequence-specific DNA binding transcription factor activity	NAS	7862533
GO:0003723	RNA binding	IEA	--

WT1 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for WT1:

Decreased sensitivity to pacli

Animal Models:
Mouse knock-outs for WT1: Wt1^tm2Hst Wt1^tm1.1Jak Wt1^tm2.1Vih Wt1^tm1Jak Wt1^tm1Jae Wt1^tm1Hst
15/16 MGI mutant phenotypes (inferred from 16 alleles) (MGI details for Wt1) (see all 16):

cardiovascular system	cellular	embryogenesis	endocrine/exocrine gland	growth/size
hematopoietic system	homeostasis/metabolism	immune system	liver/biliary system	mortality/aging
muscle	no phenotypic analysis	normal	renal/urinary system	reproductive system

WT1 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Integrated Pancreatic Cancer Pathway

Integrated Pancreatic Cancer Pathway

1.00

Integrated Pancreatic Cancer Pathway

0.99

Regulation of Telomerase

Regulation of Telomerase

1.00

3 BioSystems Pathways for WT1

	Integrated Pancreatic Cancer Pathway
	Integrated Pancreatic Cancer Pathway
	Regulation of Telomerase

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for WT1

STRING Interaction Network Preview (showing 5 interactants - click image to see 24)

5/27 Interacting proteins for WT1 (P19544^{2, 3} ENSP00000331327⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 27)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ZNF205	O95201²^,³	MINT-8277163 I2D: score=2
AREG	P15514³, ENSP00000264487⁴	I2D: score=1 STRING: ENSP00000264487
DVL3	Q92997²^,³, ENSP00000316054⁴	MINT-8277130 I2D: score=3 STRING: ENSP00000316054
NPM3	O75607²^,³, ENSP00000359128⁴	MINT-8277141 I2D: score=2 STRING: ENSP00000359128
TAOK1	Q7L7X3²^,³, ENSP00000261716⁴	MINT-8277152 I2D: score=2 STRING: ENSP00000261716

About this table

Gene Ontology (GO): 5/49 biological process terms (GO ID links to tree view) (see all 49): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IDA	7585606
GO:0001570	vasculogenesis	ISS	--
GO:0001656	metanephros development	--	--
GO:0001657	ureteric bud development	ISS	--
GO:0001658	branching involved in ureteric bud morphogenesis	IGI	10101119

WT1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

WT1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for WT1
10/49 Novoseek chemical compound relationships for WT1 gene (see all 49) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
zinc	73.4	250	8196623 (6), 8875984 (6), 12640038 (6), 19123921 (4) (see all 99)
b 723	53.5	11	12883236 (3), 16415794 (2), 14652817 (1), 18318582 (1) (see all 8)
dmrt	49.2	1	16868052 (1)
gemtuzumab ozogamicin	44.6	2	17562618 (1), 18621416 (1)
estrogen	26	33	20204298 (3), 16087727 (2), 18567994 (2), 18469708 (1) (see all 25)
progesterone	24.7	24	14662165 (6), 17182656 (2), 11739471 (1), 18469708 (1) (see all 15)
paraffin	21.6	10	15648285 (2), 11954027 (1), 11688464 (1), 17115439 (1) (see all 8)
imatinib	21.3	35	15329907 (5), 19580340 (4), 19624538 (3), 17728783 (3) (see all 7)
retinoic acid	15.4	23	8875981 (3), 15855632 (3), 7700638 (2), 8142654 (2) (see all 12)
oligonucleotide	13.4	20	11721364 (4), 8649791 (3), 11601276 (1), 10607714 (1) (see all 8)

Search CenterWatch for drugs/clinical trials and news about WT1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for WT1 gene (6 alternative transcripts):

NM_000378.4 NM_001198551.1 NM_001198552.1 NM_024424.3 NM_024426.4 NM_024425.2

Unigene Cluster for WT1:

Wilms tumor 1

Hs.591980 [show with all ESTs]

Unigene Representative Sequence: BC046461

9 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000379079(uc001mtl.2) ENST00000379077(uc009yjs.2) ENST00000332351(uc001mtn.2 uc001mto.2 uc001mtq.2)

ENST00000530998(uc001mtm.2) ENST00000452863 ENST00000448076 ENST00000527882

ENST00000526685 ENST00000527775

miRNA Products:		OriGene 3'-UTR Clone (see all 4): WT1 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat WT1
		6 QIAGEN miScript miRNA Assays for microRNAs that regulate WT1:
		hsa-miR-498 hsa-miR-3690 hsa-miR-361-5p hsa-miR-657 hsa-miR-29a* hsa-miR-590-3p
		SwitchGear 3'UTR luciferase reporter plasmid: WT1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for WT1 (see all 7) OriGene shRNA RFP: WT1 OriGene siRNA: WT1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat WT1

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for WT1 (see all 8) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for WT1 (see all 4) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 5): WT1 (NM_000378)
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		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat WT1

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat WT1

Additional cDNA sequence:

AK093168.1 AK291736.1 BC032861.2 BC046461.1 M30393.1 S74529.1 S75264.1 X51630.1

10 DOTS entries:

DT.100018186 DT.412611 DT.95346595 DT.100741611 DT.102836170 DT.100765578 DT.91944366 DT.120758147

DT.95361679 DT.97793050

24/27 AceView cDNA sequences (see all 27):

NM_015855 BU633051 CR604547 AI648530 BM906117 BC002734 BV196067 BM545678

M60614 BE394437 AW028595 T54801 AI951613 BX394943 CB267195 BX110205

BM543913 CA430691 L25110 BI837715 AA912908 AI803567 BX390192 AW194904

GeneLoc Exon Structure

5/6 Alternative Splicing Database (ASD) splice patterns (SP) for WT1 (see all 6) About this scheme

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

ECgene alternative splicing isoforms for WT1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

WT1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CTGGTATATG

About this image

WT1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

10/25 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 25)

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Heart

Epicardium

Epicardial Progenitors Cells

Selective marker (cell-identifying gene)

Epicardium

Intermediate Mesoderm

Intermediate Mesoderm Cells

Mesoderm

Kidney

Metanephric Mesenchyme

Metanephric Mesenchyme Cells

Kidney

Podocyte Layer

Podocytes

Kidney

Renal Vesicle

Proximal Renal Vesicle Cells

Kidney

Lateral Plate Mesoderm

Proepicardium

Proepicardial Progenitor cells

Epicardium

Kidney

Podocyte Layer

Presumptive Podocytes

Kidney

S-shaped Body Proximal Segment

S-shaped Body Proximal Cells

Kidney

Lateral Plate Mesoderm

Intraembryonic Coelom

Coelomic Epithelial Cells

Reproductive System

Liver

Hepatic Mesenchyme

Mesothelial Cells

Liver

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 10/11 LifeMap Cells (see all 11)

Name

Category

mK4 (Cell line)

Kidney

mK3 (Cell line)

Kidney

Sclerotome cells (Primary Cell)

Bone, Cartilage, Somite

Secondary follicles (Primary Cell)

Ovary, Reproductive System

Podocalyxin+, CD24+, GCTM2- (Derivation and sorti...)

Podocalyxin+, CD24+, GCTM2 (low) (Derivation and sorti...)

Renal-like cells (Derivation of renal-...)

Renal progenitor cells (Metanephric Mesenchyme-like cells) (Stepwise renal linea...)

Intermediate mesoderm-like cells (Generation of interm...)

Beating cell clusters (Spontaneous differen...)

See WT1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for WT1

SOURCE GeneReport for Unigene cluster: Hs.591980

UniProtKB/Swiss-Prot: WT1_HUMAN, P19544

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

SABiosciences Expression via Pathway-Focused PCR Arrays including WT1 (see all 6):

Oncogenes & Tumor Suppressor Genes in human mouse rat

Stem Cell Transcription Factors in human mouse rat

Angiogenic Growth Factors in human mouse rat

p53 Signaling Pathway in human mouse rat

Embryonic Stem Cells in human mouse rat

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for WT1 gene from 6/19 species (see all 19) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	WT1¹	Wilms tumor 1	83.37(n) 91.33(a)		396139 NM_205216.1 NP_990547.1
lizard (Anolis carolinensis)	Reptilia	WT1⁶	--	89(a)	1 ↔ 1	1(61119052-61162080)
African clawed frog (Xenopus laevis)	Amphibia	wt1-A²	Wilms tumor 1	77.48(n)		U42011.1
zebrafish (Danio rerio)	Actinopterygii	wt1²	wilms tumor	75.54(n)		30245 AF144550.1
fruit fly (Drosophila melanogaster)	Insecta	klu⁶	klumpfuss	9(a)	1 ↔ 1	3L(10974271-11001933)
worm (Caenorhabditis elegans)	Secernentea	ZC328.2⁶ ZK337.2⁶	Protein ZK337.2	16(a) 13(a)	1 ↔ many 1 ↔ many	I(6386150-6392526) I(14975408-14980575)

ENSEMBL Gene Tree for WT1 (if available)
TreeFam Gene Tree for WT1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for WT1 gene

EGR3² EGR1² EGR4² EGR2²

18/97 SIMAP similar genes for WT1 using alignment to 14 protein entries: WT1_HUMAN (see all proteins) (see all similar genes):

ZNF235 ZNF224 EGR4 ZNF653 KLF6 Sp1

ZNF180 SP3 ZNF582 SP1 DKFZp686N0199 KLF7

A-328A3.4 KLF13 KLF4 DKFZp313F0536 ZNF778 ZNF234

WT1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 11 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs121907909^1,2	C	pathogenic	69123576(-)	`GTCAGC/TGAAAG`	10	R *	stg¹		0	--	--	--	--
rs5030334^1,2	C,H,	--	32103811(-)	`TTGCTA/GTAAAT`	5	--	ds500¹		5		NS EA	592
rs5030333^1,2	C,F,H,	--	32103988(-)	`ATTATG/ATTTTA`	5	--	ds500¹		9		NS EA NA	734
rs5030332^1,2	C,F,	--	32104015(-)	`TGAATG/CGGGTT`	5	--	ds500¹		7		NS	838
rs5030331^1,2	C,F,	--	32104061(-)	`AATATC/ATTCAC`	5	--	ds500¹		2		NS NA	294
rs5030330^1,2	H	--	32104221(-)	`ATTGTG/ATTCAA`	5	--	ds500¹		5		NS EA	590
rs5030329^1,2	C,F,H,	--	32104323(-)	`ACAAGA/GTATTG`	5	--	ut3¹		14		NS EA NA WA	1522
rs5030328^1,2	C,F,H,	--	32104400(-)	`GTCTGA/TTAATG`	5	--	ut3¹ ese³		17		NS EA NA	1516
rs5030327^1,2	C,F,H,	--	32104434(-)	`TTTACC/TGTTGC`	5	--	ut3¹		12		NS EA NA WA	1474
rs5030325^1,2	C,H,	--	32104629(-)	`GGATGG/ATCCAG`	5	--	ut3¹		5		NS EA	586

HapMap Linkage Disequilibrium report for WT1 (32409321 - 32457176 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for WT1
1 CNV: 4735
Human Gene Mutation Database (HGMD): WT1

4 SABiosciences Cancer Mutation PCR Assays for WT1:

Cosmic Id	AA Change
21392	p.A314fs*4
21418	p.V303fs*14
27307	p.S313*
21397	p.R390*

4 SABiosciences Cancer Mutation PCR Arrays containing WT1:

Hematopoietic Neoplasms

Acute Myeloid Leukemia

Cancer Comprehensive Panel 384HT

Tumor Suppressor Panel 384HT

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DNA2.0 Custom Variant and Variant Library Synthesis for WT1

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

WT1 for disorders           About GeneDecksing

OMIM gene information: 607102
OMIM disorders: 194070  194080  256370  136680  608978
UniProtKB/Swiss-Prot: WT1_HUMAN, P19544

Defects in WT1 are the cause of Frasier syndrome (FS) [MIM:136680]. FS is 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

Defects in WT1 are the cause of Wilms tumor 1 (WT1) [MIM:194070]. WT is an embryonal malignancy of the kidney

that affects approximately 1 in 10'000 infants and young children. It occurs both in sporadic and hereditary forms

Defects in WT1 are the cause of Denys-Drash syndrome (DDS) [MIM:194080]. DDS is a 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

Defects in WT1 are the cause of nephrotic syndrome type 4 (NPHS4) [MIM:256370]. A renal disease characterized

clinically by proteinuria, 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

Defects in WT1 are a cause of Meacham syndrome (MEACHS) [MIM:608978]. Meacham syndrome is a 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

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

Defects in WT1 may be a cause of 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

20/192 diseases for WT1 (see all 192): About MalaCards

wilms tumor denys-drash syndrome desmoplastic small round cell tumor succinic semialdehyde dehydrogenase deficiency

alpha-thalassemia/mental retardation syndrome 46, xy disorders of sex development sertoli-leydig cell tumor beckwith-wiedemann syndrome

steroid-resistant nephrotic syndrome nephrotic syndrome, type 4 paroxysmal nocturnal hemoglobinuria diffuse mesangial sclerosis

mesangial sclerosis caudal regression syndrome congenital mesoblastic nephroma mixed gonadal dysgenesis

gonadal dysgenesis disorders of sex development lymphogranuloma venereum end stage renal failure

15 diseases from the University of Copenhagen DISEASES database for WT1:

Nephroblastoma Denys-Drash syndrome Frasier syndrome WAGR syndrome

Aniridia Leukemia Pseudohermaphroditism Gonadoblastoma

Kidney disease Benign mesothelioma Gonadal dysgenesis Malignant mesothelioma

Hypospadias Metanephric adenoma Carcinoma

10/89 Novoseek disease relationships for WT1 gene (see all 89) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
wilms tumor	98.2	1174	18231640 (6), 18311776 (6), 18564415 (6), 8393432 (5) (see all 99)
denys-drash syndrome	96.9	110	1327525 (3), 8810912 (3), 18197048 (3), 1655284 (2) (see all 81)
frasier syndrome	95.4	55	10670748 (3), 16440249 (3), 9499425 (3), 10762296 (3) (see all 37)
wagr syndrome	92.2	36	15779010 (2), 7687865 (2), 8396067 (2), 17533022 (2) (see all 23)
mesangial sclerosis, diffuse	91.4	26	9529364 (2), 9916932 (2), 15682315 (1), 20150449 (1) (see all 20)
aniridia	85.2	40	17630404 (4), 8616775 (2), 18402324 (2), 15779010 (1) (see all 31)
pseudohermaphroditism	84.3	11	14671061 (2), 10505700 (2), 9529364 (1), 12970737 (1) (see all 8)
minimal residual disease	82.6	89	12357365 (3), 9535047 (2), 12007019 (2), 18801058 (2) (see all 59)
nphs1	80	23	17371932 (5), 15504938 (3), 16912710 (2), 18443213 (2) (see all 14)
genitourinary anomaly	79.6	24	9817285 (3), 15779010 (2), 7700638 (1), 19096215 (1) (see all 19)

GeneTests: WT1

Wilms Tumor

Genetic Association Database (GAD): WT1
Human Genome Epidemiology (HuGE) Navigator: WT1 (45 documents)
Tumor Gene Database (TGDB): WT1

Export disorders for WT1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for WT1 gene, integrated from 9 sources (see all 1238):
(articles sorted by number of sources associating them with WT1)

Utopia: connect your pdf to the dynamic
world of online information

Prevalence of WT1 mutations in a large cohort of patients with steroid-resistant and steroid-sensitive nephrotic syndrome. (PubMed id 15253707)^{1, 2, 4, 9} Ruf R.G.... Hildebrandt F. (2004)
Mutation analysis of five candidate genes in Chinese patients with hypospadias. (PubMed id 15266301)^{1, 2, 4, 9} Wang Y....Shen Y. (2004)
Twenty-four new cases of WT1 germline mutations and review of the literature: genotype/phenotype correlations for Wilms tumor development. (PubMed id 15150775)^{1, 2, 4, 9} Royer-Pokora B.... Huff V. (2004)
A novel mutation H373Y in the Wilms' tumor suppressor gene, WT1, associated with Denys-Drash syndrome. (PubMed id 8956030)^{1, 2, 4, 9} Ghahremani M....Pelletier J. (1996)
Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome. (PubMed id 1655284)^{1, 2, 4, 9} Pelletier J.... Housman D.E. (1991)
Inhibition of Wilms tumor 1 transactivation by bone marrow zinc finger 2, a novel transcriptional repressor. (PubMed id 12239212)^{1, 2, 9} Lee T.H.... Pelletier J. (2002)
Zinc finger point mutations within the WT1 gene in Wilms tumor patients. (PubMed id 1317572)^{1, 2, 9} Little M.H....Hastie N.D. (1992)
Structure of the Wilms tumor suppressor protein zinc finger domain bound to DNA. (PubMed id 17716689)^{1, 2, 9} Stoll R....Wright P.E. (2007)
Identification of WTAP, a novel Wilms' tumour 1-associating protein. (PubMed id 11001926)^{1, 2, 9} Little N.A....Davies R.C. (2000)
Correlation of germ-line mutations and two-hit inactivation of the WT1 gene with Wilms tumors of stromal-predominant histology. (PubMed id 9108089)^{1, 2, 9} Schumacher V.... Royer-Pokora B. (1997)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 7490	HGNC: 12796	AceView: WIT-1	Ensembl:ENSG00000184937	euGenes: HUgn7490
ECgene: WT1	H-InvDB: WT1

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for WT1	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for WT1	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/WT1
NIEHS-SNPs	http://egp.gs.washington.edu/data/wt1/

Intellectual Property for WT1 gene
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Patent Information for WT1 gene:
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GeneCards and IP:
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Beckwith-Wiedemann Syndrome
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WT1 Gene

Wilms tumor 1

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