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Aliases for WNT4 Gene

Aliases for WNT4 Gene

  • Wnt Family Member 4 2 3 5
  • Wingless-Type MMTV Integration Site Family, Member 4 2 3
  • Protein Wnt-4 3
  • SERKAL 3
  • WNT-4 3

External Ids for WNT4 Gene

Previous GeneCards Identifiers for WNT4 Gene

  • GC01M022016
  • GC01M021481
  • GC01M021592
  • GC01M021915
  • GC01M022318
  • GC01M022443
  • GC01M020688

Summaries for WNT4 Gene

Entrez Gene Summary for WNT4 Gene

  • The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family, and is the first signaling molecule shown to influence the sex-determination cascade. It encodes a protein which shows 98% amino acid identity to the Wnt4 protein of mouse and rat. This gene and a nuclear receptor known to antagonize the testis-determining factor play a concerted role in both the control of female development and the prevention of testes formation. This gene and another two family members, WNT2 and WNT7B, may be associated with abnormal proliferation in breast tissue. Mutations in this gene can result in Rokitansky-Kuster-Hauser syndrome and in SERKAL syndrome. [provided by RefSeq, Jul 2008]

GeneCards Summary for WNT4 Gene

WNT4 (Wnt Family Member 4) is a Protein Coding gene. Diseases associated with WNT4 include Mullerian Aplasia And Hyperandrogenism and Serkal Syndrome. Among its related pathways are Wnt Signaling Pathways: beta-Catenin-dependent Wnt Signaling and HTLV-I infection. GO annotations related to this gene include receptor binding and frizzled binding. An important paralog of this gene is WNT3.

UniProtKB/Swiss-Prot for WNT4 Gene

  • Ligand for members of the frizzled family of seven transmembrane receptors. Probable developmental protein. May be a signaling molecule which affects the development of discrete regions of tissues. Is likely to signal over only few cell diameters (By similarity). Overexpression may be associated with abnormal proliferation in human breast tissue.

Gene Wiki entry for WNT4 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for WNT4 Gene

Genomics for WNT4 Gene

Regulatory Elements for WNT4 Gene

Enhancers for WNT4 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F022018 1.6 FANTOM5 Ensembl ENCODE 10.3 +124.3 124281 2.6 HDGF PKNOX1 ATF1 WRNIP1 SIN3A ELK1 FOS KDM4B JUNB NCOA1 LINC00339 HSPG2 WNT4 NBPF2P CDC42 ZBTB40 LINC01635 RNU6-776P
GH01F022285 1.3 FANTOM5 ENCODE 11.2 -141.9 -141924 1.1 ZNF766 GLIS2 ZNF263 NCOA1 REST SMARCA4 GLIS1 KDM1A BACH1 UBTF WNT4 MIR4418 LOC101060363
GH01F022088 1.3 Ensembl ENCODE 10.6 +54.3 54256 1.9 ATF1 ARID4B SIN3A DMAP1 ZNF2 ZNF48 ZNF121 ZNF143 KLF13 DEK WNT4 CDC42 LINC01635 GC01P022090 PIR57871 GC01P022081
GH01F022023 1.2 ENCODE 10.3 +118.2 118243 3.8 HDGF PKNOX1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF143 LINC00339 CDC42-IT1 ZBTB40-IT1 ENSG00000271428 HSPG2 WNT4 NBPF2P LINC01635
GH01F022450 1.2 ENCODE 10.1 -307.9 -307851 3.3 CREB3L1 MLX DMAP1 YY1 ZNF143 SP3 NFYC TBX21 MEF2D ZNF610 LINC01355 LDLRAD2 ZNF436-AS1 CDC42-IT1 ZBTB40 ZBTB40-IT1 ENSG00000271428 WNT4 TCEA3 PIR59957
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around WNT4 on UCSC Golden Path with GeneCards custom track

Promoters for WNT4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001742564 781 1601 CTCF KLF1 KLF17 ZIC2 RAD21 ZNF121 CTBP1 GATA3 ZFHX2 GLIS2

Genomic Location for WNT4 Gene

Chromosome:
1
Start:
22,117,305 bp from pter
End:
22,143,981 bp from pter
Size:
26,677 bases
Orientation:
Minus strand

Genomic View for WNT4 Gene

Genes around WNT4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
WNT4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for WNT4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for WNT4 Gene

Proteins for WNT4 Gene

  • Protein details for WNT4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P56705-WNT4_HUMAN
    Recommended name:
    Protein Wnt-4
    Protein Accession:
    P56705
    Secondary Accessions:
    • B4DJF9
    • Q5TZQ0
    • Q96T81
    • Q9BXF5
    • Q9H1J8
    • Q9UJM2

    Protein attributes for WNT4 Gene

    Size:
    351 amino acids
    Molecular mass:
    39052 Da
    Quaternary structure:
    • Interacts with PORCN.

    Alternative splice isoforms for WNT4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for WNT4 Gene

Post-translational modifications for WNT4 Gene

  • Palmitoleylation is required for efficient binding to frizzled receptors. Depalmitoleylation leads to Wnt signaling pathway inhibition.
  • Glycosylation at Asn 88 and Asn 297
  • Modification sites at PhosphoSitePlus

Other Protein References for WNT4 Gene

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for WNT4

No data available for DME Specific Peptides for WNT4 Gene

Domains & Families for WNT4 Gene

Gene Families for WNT4 Gene

Protein Domains for WNT4 Gene

Suggested Antigen Peptide Sequences for WNT4 Gene

Graphical View of Domain Structure for InterPro Entry

P56705

UniProtKB/Swiss-Prot:

WNT4_HUMAN :
  • Belongs to the Wnt family.
Family:
  • Belongs to the Wnt family.
genes like me logo Genes that share domains with WNT4: view

Function for WNT4 Gene

Molecular function for WNT4 Gene

UniProtKB/Swiss-Prot Function:
Ligand for members of the frizzled family of seven transmembrane receptors. Probable developmental protein. May be a signaling molecule which affects the development of discrete regions of tissues. Is likely to signal over only few cell diameters (By similarity). Overexpression may be associated with abnormal proliferation in human breast tissue.

Gene Ontology (GO) - Molecular Function for WNT4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003714 transcription corepressor activity IEA,ISS --
GO:0005102 receptor binding IEA --
GO:0005109 frizzled binding IEA,IBA --
GO:0048018 receptor agonist activity IC 16959810
genes like me logo Genes that share ontologies with WNT4: view
genes like me logo Genes that share phenotypes with WNT4: view

Human Phenotype Ontology for WNT4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for WNT4 Gene

MGI Knock Outs for WNT4:

Animal Model Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for WNT4

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for WNT4 Gene

Localization for WNT4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for WNT4 Gene

Secreted, extracellular space, extracellular matrix.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for WNT4 gene
Compartment Confidence
plasma membrane 5
extracellular 5
endoplasmic reticulum 4
golgi apparatus 4
nucleus 2
cytoskeleton 1
mitochondrion 1
lysosome 1

Gene Ontology (GO) - Cellular Components for WNT4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA,TAS --
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0005615 extracellular space IDA 16959810
GO:0005737 cytoplasm IDA 16959810
GO:0005788 endoplasmic reticulum lumen TAS --
genes like me logo Genes that share ontologies with WNT4: view

Pathways & Interactions for WNT4 Gene

genes like me logo Genes that share pathways with WNT4: view

SIGNOR curated interactions for WNT4 Gene

Activates:
Is inactivated by:

Gene Ontology (GO) - Biological Process for WNT4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001658 branching involved in ureteric bud morphogenesis IEA --
GO:0001822 kidney development IEP 15312687
GO:0001823 mesonephros development IEA --
GO:0001837 epithelial to mesenchymal transition IEP 12841867
GO:0001838 embryonic epithelial tube formation IEA --
genes like me logo Genes that share ontologies with WNT4: view

Drugs & Compounds for WNT4 Gene

(2) Drugs for WNT4 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with WNT4: view

Transcripts for WNT4 Gene

Unigene Clusters for WNT4 Gene

Wingless-type MMTV integration site family, member 4:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for WNT4

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for WNT4 Gene

No ASD Table

Relevant External Links for WNT4 Gene

GeneLoc Exon Structure for
WNT4
ECgene alternative splicing isoforms for
WNT4

Expression for WNT4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for WNT4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for WNT4 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x7.6), Ovary (x6.3), and Skin - Sun Exposed (Lower leg) (x6.2).

Protein differential expression in normal tissues from HIPED for WNT4 Gene

This gene is overexpressed in Prostate (27.5), Testis (11.4), Islet of Langerhans (10.5), Ovary (6.7), and Peripheral blood mononuclear cells (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for WNT4 Gene



Protein tissue co-expression partners for WNT4 Gene

NURSA nuclear receptor signaling pathways regulating expression of WNT4 Gene:

WNT4

SOURCE GeneReport for Unigene cluster for WNT4 Gene:

Hs.25766
genes like me logo Genes that share expression patterns with WNT4: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for WNT4 Gene

Orthologs for WNT4 Gene

This gene was present in the common ancestor of animals.

Orthologs for WNT4 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia WNT4 34 35
  • 94.36 (n)
oppossum
(Monodelphis domestica)
Mammalia WNT4 35
  • 93 (a)
OneToOne
cow
(Bos Taurus)
Mammalia WNT4 34 35
  • 92.72 (n)
chimpanzee
(Pan troglodytes)
Mammalia WNT4 34 35
  • 91.95 (n)
rat
(Rattus norvegicus)
Mammalia Wnt4 34
  • 90.5 (n)
mouse
(Mus musculus)
Mammalia Wnt4 34 16 35
  • 90.22 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia WNT4 35
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves WNT4 34 35
  • 81.2 (n)
lizard
(Anolis carolinensis)
Reptilia WNT4 35
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia wnt4 34
  • 73.79 (n)
Str.17939 34
African clawed frog
(Xenopus laevis)
Amphibia Xwnt-4 34
zebrafish
(Danio rerio)
Actinopterygii wnt4a 34 35
  • 75.88 (n)
fruit fly
(Drosophila melanogaster)
Insecta Wnt5 36 34
  • 52.97 (n)
Wnt6 36
  • 44 (a)
worm
(Caenorhabditis elegans)
Secernentea cwn-1 36 34
  • 50.54 (n)
cwn-2 36
  • 42 (a)
mom-2 36
  • 36 (a)
egl-20 36
  • 35 (a)
lin-44 36
  • 29 (a)
Species where no ortholog for WNT4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for WNT4 Gene

ENSEMBL:
Gene Tree for WNT4 (if available)
TreeFam:
Gene Tree for WNT4 (if available)

Paralogs for WNT4 Gene

Paralogs for WNT4 Gene

genes like me logo Genes that share paralogs with WNT4: view

Variants for WNT4 Gene

Sequence variations from dbSNP and Humsavar for WNT4 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs121908650 Mullerian aplasia and hyperandrogenism (MULLAPL) [MIM:158330], Pathogenic 22,120,459(-) CTGTG(A/G)GGTAA reference, missense
rs121908651 46,XX sex reversal with dysgenesis of kidneys, adrenals, and lungs (SERKAL) [MIM:611812], Pathogenic 22,121,549(-) GTACG(C/T)CATCT reference, missense
rs121908653 Mullerian aplasia and hyperandrogenism (MULLAPL) [MIM:158330], Pathogenic 22,142,888(-) GCGCC(C/T)CCTCG intron-variant, upstream-variant-2KB, reference, missense
VAR_043498 Mullerian aplasia and hyperandrogenism (MULLAPL) [MIM:158330]
rs121908652 Pathogenic 22,129,682(-) AGTTC(C/T)GGAAC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for WNT4 Gene

Variant ID Type Subtype PubMed ID
nsv950284 CNV deletion 24416366
nsv6076 CNV insertion 18451855
nsv545747 CNV loss 21841781
nsv460806 CNV loss 19166990
nsv1075319 CNV deletion 25765185
esv3585463 CNV loss 21293372
dgv57n106 CNV deletion 24896259

Variation tolerance for WNT4 Gene

Residual Variation Intolerance Score: 23.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.99; 20.42% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for WNT4 Gene

Human Gene Mutation Database (HGMD)
WNT4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
WNT4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for WNT4 Gene

Disorders for WNT4 Gene

MalaCards: The human disease database

(14) MalaCards diseases for WNT4 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mullerian aplasia and hyperandrogenism
  • müllerian aplasia and hyperandrogenism
serkal syndrome
  • 46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs
46,xy disorder of sex development and 46,xy complete gonadal dysgenesis
  • xy disorder of sex development and xy complete gonadal dysgenesis
wnt4-related 46,xy dsd and 46,xy cgd
hyperandrogenism
  • hyperandrogenization syndrome
- elite association - COSMIC cancer census association via MalaCards
Search WNT4 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

WNT4_HUMAN
  • 46,XX sex reversal with dysgenesis of kidneys, adrenals, and lungs (SERKAL) [MIM:611812]: A disease characterized by the association of female-to-male sex reversal with dysgenesis of kidneys, adrenals, and lungs. {ECO:0000269 PubMed:18179883}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Mullerian aplasia and hyperandrogenism (MULLAPL) [MIM:158330]: A disorder of sex development. Affected females manifest dysgenesis of Mullerian duct derivatives absent or rudimentary uterus and vagina, functional ovaries, primary amenorrhea, hyperandrogenism and hirsutism. {ECO:0000269 PubMed:15317892, ECO:0000269 PubMed:16959810, ECO:0000269 PubMed:18182450}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for WNT4

Genetic Association Database (GAD)
WNT4
Human Genome Epidemiology (HuGE) Navigator
WNT4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
WNT4
genes like me logo Genes that share disorders with WNT4: view

No data available for Genatlas for WNT4 Gene

Publications for WNT4 Gene

  1. Differential expression of human Wnt genes 2, 3, 4, and 7B in human breast cell lines and normal and disease states of human breast tissue. (PMID: 8168088) Huguet E.L. … Harris A.L. (Cancer Res. 1994) 2 3 4 22 64
  2. WNT4 deficiency-a clinical phenotype distinct from the classic Mayer- Rokitansky-Kuster-Hauser syndrome: a case report. (PMID: 16959810) Biason-Lauber A. … Schoenle E.J. (Hum. Reprod. 2007) 3 4 22 64
  3. A WNT4 mutation associated with Muellerian-duct regression and virilization in a 46,XX woman. (PMID: 15317892) Biason-Lauber A. … Schoenle E.J. (N. Engl. J. Med. 2004) 3 4 22 64
  4. Up-regulation of wnt-4 signaling and dosage-sensitive sex reversal in humans. (PMID: 11283799) Jordan B.K. … Vilain E. (Am. J. Hum. Genet. 2001) 3 4 22 64
  5. Wnt signaling and Dupuytren's disease. (PMID: 21732829) Dolmans G.H. … . (N. Engl. J. Med. 2011) 3 46 64

Products for WNT4 Gene

Sources for WNT4 Gene

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