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Gene id 7490
Gene Summary    Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed    

Gene Summary

Gene Symbol WT1   Gene   UCSC   Ensembl
Aliases AWT1, GUD, NPHS4, WAGR, WIT-2, WT33
Gene name Wilms tumor 1
Alternate names Wilms tumor protein,
Gene location 11p13 (32435538: 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 muta
OMIM 607102

Protein Summary

Protein general information P19544  

Name: Wilms tumor protein (WT33)

Length: 449  Mass: 49,188

Tissue specificity: Expressed in the seminal plasma, endometrial fluid and follicular fluid (at protein level). Small intestine, colon, testis, prostate, heart, brain, lung, skeletal muscle, kidney and pancreas. Most abundant in the brain and heart. {ECO

Sequence MGSDVRDLNALLPAVPSLGGGGGCALPVSGAAQWAPVLDFAPPGASAYGSLGGPAPPPAPPPPPPPPPHSFIKQE
PSWGGAEPHEEQCLSAFTVHFSGQFTGTAGACRYGPFGPPPPSQASSGQARMFPNAPYLPSCLESQPAIRNQGYS
TVTFDGTPSYGHTPSHHAAQFPNHSFKHEDPMGQQGSLGEQQYSVPPPVYGCHTPTDSCTGSQALLLRTPYSSDN
LYQMTSQLECMTWNQMNLGATLKGVAAGSSSSVKWTEGQSNHSTGYESDNHTTPILCGAQYRIHTHGVFRGIQDV
RRVPGVAPTLVRSASETSEKRPFMCAYPGCNKRYFKLSHLQMHSRKHTGEKPYQCDFKDCERRFSRSDQLKRHQR
RHTGVKPFQCKTCQRKFSRSDHLKTHTRTHTGKTSEKPFSCRWPSCQKKFARSDELVRHHNMHQRNMTKLQLAL
Structural information
Interpro:  IPR017987  IPR000976  IPR036236  IPR013087  
Prosite:   PS00028 PS50157

PDB:  
1LU6 1XF7 2G7T 2G7V 2G7W 2G7X 2JP9 2JPA 2PRT 3HPJ 3MYJ 4R2E 4R2P 4R2Q 4R2R 4R2S 4WUU 5KL2 5KL3 5KL4 5KL5 5KL6 5KL7 6B0O 6B0P 6B0Q 6B0R 6BLW
PDBsum:   1LU6 1XF7 2G7T 2G7V 2G7W 2G7X 2JP9 2JPA 2PRT 3HPJ 3MYJ 4R2E 4R2P 4R2Q 4R2R 4R2S 4WUU 5KL2 5KL3 5KL4 5KL5 5KL6 5KL7 6B0O 6B0P 6B0Q 6B0R 6BLW
MINT:  
STRING:   ENSP00000331327
Other Databases GeneCards:  WT1  Malacards:  WT1

Gene ontology

Expand All | Collapse All

GO accessionTerm nameEvidence codeGo 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

Expand All | Collapse All

Pathway idPathway name
hsa05202Transcriptional misregulation in cancer
Associated diseases References
Cancer GAD: 11518820
Cancer (kidney) GAD: 18618575
Cancer (leukemia) GAD: 20959405
Cancer (myeloid leukemia) GAD: 20038731
Cancer (pancreatic) GAD: 19351817
Cancer (thyroid) GAD: 19730683
Mesothelioma OMIM: 607102
Cancer (endometrial) INFBASE: 15297187
WAGR syndrome GAD: 7687865
Wilms tumor MIK: 19048299
Wilms tumor OMIM: 607102
Denys-Drash syndrome OMIM: 607102
Frasier syndrome OMIM: 607102
Abnormal urogenital development GAD: 1655284
Eye diseases GAD: 18058136
Alzheimer's disease GAD: 12914969
Chronic renal failure GAD: 20507940
Premature ovarian failure (POF) INFBASE: 26358501
Polycystic ovary syndrome (PCOS) INFBASE: 22238403
XY gonadal dysgenesis INFBASE: 7607640
46,XY Disorders of sex development MIK: 21508141
Hypospadias MIK: 21508141
Cryptorchidism MIK: 21508141
Ambiguous genitalia MIK: 12050205
Absence of gonadal dysgenesis MIK: 12050205
Bilateral cryptorchidism MIK: 19048299
Macrosomia MIK: 22801570
Hypospadias MIK: 10092153
Hypergonadotropic hypogonadism MIK: 16476716
Male factor infertility MIK: 25451826
Non obstructive azoospermia MIK: 23935527
Complete androgen insensitivity syndrome (CAIS) MIK: 10092153
Ambiguous genitalia INFBASE: 22801570
Congenital absence of the uterus and vagina (CAUV) MIK: 9757958
Azoospermia MIK: 24912414
Deep infiltrating endometriosis INFBASE: 18722603
Endometriosis INFBASE: 24018808
Meacham syndrome OMIM: 607102
Focal segmental glomerulosclerosis KEGG: H00626
Nephrotic syndrome KEGG: H01657
46,XY Disorders in sex development MIK: 21508141
Hypospadias MIK: 21508141
Cryptorchidism MIK: 21508141
Aberrant CpGs in Low Motility Sperm MIK: 21674046
Ambiguous genitalia MIK: 15191353
Absence of gonadal dysgenesis MIK: 12050205
Bilateral cryptorchidism MIK: 19048299
Wilms tumor MIK: 19048299
Could be involved in the regulation by Sertoli cells of germ cell maturation MIK: 8950512
Azoospermia MIK: 24912414
Hypergonadotropic hypogonadism MIK: 16476716
Hypospadias MIK: 10092153
Complete androgen insensitivity syndrome (CAIS) MIK: 10092153
Idiopathic nonobstructive azoospermia (INOA) MIK: 27990711
Macrosomia MIK: 22801570
Ambiguous genitalia MIK: 22801570
Male infertility MIK: 25451826
Non-obstructive azoospermia(NOA) MIK: 23935527
Teratozoospermia MIK: 17327269
Unexplained infertility MIK: 25753583

PubMed references

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PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
15191353 Ambiguous
genitalia
WT1 mutation (P181S) 
1 ambiguous gen
italia
Male infertiltiy
Show abstract
10092153 Hypospadia
s, CAIS

35 boys with hy
popadias, 1 gir
l CAIS
Male infertility AR
WT1
5alpha-reductase
Show abstract
25451826 Male infer
tility,
p.Pro130Leu, pCys350Arg Portugu
ese
414 (194 patien
ts with nonobst
ructive azoospe
rmia, 188 with
severe oligozoo
spermia, 31 inf
ertile males, 1
patient with a
norchia)
Male infertility
Show abstract
24912414 Cryptorchi
dism, azoo
spermia.
Portugu
ese
32 patients wit
h isolated uni-
or bilateral c
ryptorchidism
Male infertility
Show abstract
21508141 46,XY DSD,
severe hy
pospadias,
cryptorch
idism

210 (150 males
with severe hyp
ospadias (70 wi
thout cryptorch
idism, 80 with
at least one cr
yptorchid testi
s), 10 males wi
th vanishing te
stes syndrome,
and 50 raised f
emales with par
tial to complet
e 46,XY gonadal
dysgenesis)
Male infertility
Show abstract
19048299 Bilateral 
cryptorchi
dism, Wilm
s tumor
WT1 nonsense mutation (c.1105C>T), introducing a premature stop codon in exon 8 (p.Q369X)

Male infertility
Show abstract
16476716 Hypergonad
otropic hy
pogonadism


Male infertility
Show abstract
12050205 Ambiguous
genitalia,
absence o
f gonadal
dysgenesis
IVS9 +4C>T
1
Male infertility
Show abstract
10092153 Hypospadia
s

36 (35 boys wit
h hypopadias, 1
girl diagnosed
as with CAIS)
Male infertility
Show abstract
22801570 Macrosomia
, ambiguou
s genitali
a

1 case of macro
somia and genit
al ambiguity
Male infertility
Show abstract
23935527 Non-obstru
ctive azoo
spermia(NO
A)

529 human patie
nts with non-ob
structive azoos
permia(NOA), in
dicating a stro
ng association
between WT1 mut
ation and NOA
Male infertility
Show abstract
8950512 Could be i
nvolved in
the regul
ation by S
ertoli cel
ls of germ
cell matu
ration


Male infertility
Show abstract
27990711 Idiopathic
nonobstru
ctive azoo
spermia (I
NOA), Male
infertili
ty
p.Phe435Leu (p.F435L)
400 (200 patien
ts diagnosed wi
th INOA, 200 pr
oven-fertile me
n)
Male infertility
Show abstract
17327269 Teratozoos
permia

19 (6 controls
, 13 cases)
Male infertility GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
Show abstract
21674046 Aberrant C
pGs in Low
Motility
Sperm

18
Male infertility GSE26881
Show abstract
25753583 Unexplaine
d infertil
ity

46 (17 fertile
men, 29 male pa
tients)
Male infertility Microarray
Show abstract