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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 46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs and Mullerian Aplasia And Hyperandrogenism. Among its related pathways are DNA Damage Response (only ATM dependent) and Thyroid hormone signaling pathway. Gene Ontology (GO) annotations related to this gene include receptor binding and frizzled binding. An important paralog of this gene is WNT5A.

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

Additional gene information for WNT4 Gene

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

Genomics for WNT4 Gene

GeneHancer (GH) Regulatory Elements for WNT4 Gene

Promoters and enhancers for WNT4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I022142 Promoter/Enhancer 1.2 Ensembl dbSUPER 550.8 +0.8 780 1.2 CTCF KLF1 ZNF449 KLF17 SIN3A ZNF335 ZNF121 POLR2A ZBTB48 PATZ1 GC01P022144 WNT4 LINC00339 LOC105376845
GH01I022450 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 10.1 -307.9 -307850 3.3 CLOCK MLX DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 ZNF263 SP3 ZBTB40 PIR59957 KDM1A CDC42-IT1 ENSG00000271428 WNT4 USP48
GH01I022023 Promoter/Enhancer 1.8 Ensembl ENCODE dbSUPER 10.3 +118.2 118243 3.8 FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 ZNF263 SP3 MEF2D LINC00339 LINC01635 ZBTB40 CDC42-IT1 ENSG00000271428 KDM1A HSPG2 NBPF3 CDC42 WNT4
GH01I022018 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 10.3 +124.6 124555 1.9 HDGF PKNOX1 ATF1 SMAD1 ARNT ZNF766 E2F8 FOS ATF7 RUNX3 LINC00339 HSPG2 WNT4 CDC42 ZBTB40 LINC01635 RNU6-776P
GH01I022285 Enhancer 1.1 FANTOM5 ENCODE 11.2 -141.9 -141923 1.1 HDGF ATF1 GLIS2 ZNF263 REST ZNF592 GMEB1 SMARCA4 GLIS1 NBN WNT4 MIR4418 PPIAP34
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around WNT4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the WNT4 gene promoter:

Genomic Locations for WNT4 Gene

Genomic Locations for WNT4 Gene
chr1:22,117,305-22,143,981
(GRCh38/hg38)
Size:
26,677 bases
Orientation:
Minus strand
chr1:22,443,798-22,470,462
(GRCh37/hg19)

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

  • Palmitoleoylation is required for efficient binding to frizzled receptors. Depalmitoleoylation leads to Wnt signaling pathway inhibition.
  • Glycosylation at posLast=8888 and isoforms=2297
  • Modification sites at PhosphoSitePlus

Other Protein References for WNT4 Gene

No data available for DME Specific Peptides for WNT4 Gene

Domains & Families for WNT4 Gene

Gene Families for WNT4 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted membrane proteins

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.

Phenotypes From GWAS Catalog for WNT4 Gene

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 ligand 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:

Clone Products

  • Addgene plasmids for WNT4

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

Subcellular locations from the

Human Protein Atlas (HPA)

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,IEA 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:

Clone Products

  • Addgene plasmids for WNT4

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 CGAP 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

Evidence on tissue expression from TISSUES for WNT4 Gene

  • Nervous system(4.3)
  • Kidney(2.6)
  • Lung(2.1)
  • Skin(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for WNT4 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • endocrine
  • integumentary
  • reproductive
  • respiratory
  • urinary
Regions:
Head and neck:
  • face
  • head
Thorax:
  • lung
Abdomen:
  • adrenal gland
  • kidney
Pelvis:
  • fallopian tube
  • ovary
  • penis
  • prostate
  • testicle
  • ureter
  • uterus
  • vagina
  • vas deferens
  • vulva
General:
  • hair
  • skin
genes like me logo Genes that share expression patterns with WNT4: view

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 33 34
  • 94.36 (n)
oppossum
(Monodelphis domestica)
Mammalia WNT4 34
  • 93 (a)
OneToOne
cow
(Bos Taurus)
Mammalia WNT4 33 34
  • 92.72 (n)
chimpanzee
(Pan troglodytes)
Mammalia WNT4 33 34
  • 91.95 (n)
rat
(Rattus norvegicus)
Mammalia Wnt4 33
  • 90.5 (n)
mouse
(Mus musculus)
Mammalia Wnt4 33 16 34
  • 90.22 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia WNT4 34
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves WNT4 33 34
  • 81.2 (n)
lizard
(Anolis carolinensis)
Reptilia WNT4 34
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia wnt4 33
  • 73.79 (n)
Str.17939 33
African clawed frog
(Xenopus laevis)
Amphibia Xwnt-4 33
zebrafish
(Danio rerio)
Actinopterygii wnt4a 33 34
  • 75.88 (n)
fruit fly
(Drosophila melanogaster)
Insecta Wnt5 35 33
  • 52.97 (n)
Wnt6 35
  • 44 (a)
worm
(Caenorhabditis elegans)
Secernentea cwn-1 35 33
  • 50.54 (n)
cwn-2 35
  • 42 (a)
mom-2 35
  • 36 (a)
egl-20 35
  • 35 (a)
lin-44 35
  • 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 Variation AA Info Type
rs121908650 pathogenic, Mullerian aplasia and hyperandrogenism, Mullerian aplasia and hyperandrogenism (MULLAPL) [MIM:158330] 22,120,459(-) T/C coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs121908651 pathogenic, Serkal syndrome, 46,XX sex reversal with dysgenesis of kidneys, adrenals, and lungs (SERKAL) [MIM:611812] 22,121,549(-) G/A coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs121908652 pathogenic, Mullerian aplasia and hyperandrogenism 22,129,682(-) G/A coding_sequence_variant, missense_variant
rs121908653 pathogenic, Mullerian aplasia and hyperandrogenism, Mullerian aplasia and hyperandrogenism (MULLAPL) [MIM:158330] 22,142,888(-) A/G coding_sequence_variant, genic_upstream_transcript_variant, intron_variant, missense_variant, upstream_transcript_variant
VAR_043498 Mullerian aplasia and hyperandrogenism (MULLAPL) [MIM:158330] p.Arg83Cys

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

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

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)

Additional Variant Information for WNT4 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for WNT4 Gene

MalaCards: The human disease database

(9) MalaCards diseases for WNT4 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs
  • serkal
mullerian aplasia and hyperandrogenism
  • mullerian duct failure and hyperandrogenism
hyperandrogenism
  • hyperandrogenization syndrome
mullerian aplasia
  • mayer-rokitansky-kuster-hauser syndrome
mayer-rokitansky-kuster-hauser syndrome
  • mrkh 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.

Additional Disease Information for WNT4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 EL … Harris AL (Cancer research 1994) 2 3 4 22 58
  2. WNT4 deficiency--a clinical phenotype distinct from the classic Mayer-Rokitansky-Kuster-Hauser syndrome: a case report. (PMID: 16959810) Biason-Lauber A … Schoenle EJ (Human reproduction (Oxford, England) 2007) 3 4 22 58
  3. A WNT4 mutation associated with Müllerian-duct regression and virilization in a 46,XX woman. (PMID: 15317892) Biason-Lauber A … Schoenle EJ (The New England journal of medicine 2004) 3 4 22 58
  4. Up-regulation of WNT-4 signaling and dosage-sensitive sex reversal in humans. (PMID: 11283799) Jordan BK … Vilain E (American journal of human genetics 2001) 3 4 22 58
  5. Wnt signaling and Dupuytren's disease. (PMID: 21732829) Dolmans GH … BSSH-GODD Consortium (The New England journal of medicine 2011) 3 44 58

Products for WNT4 Gene

  • Addgene plasmids for WNT4

Sources for WNT4 Gene

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