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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

WNT4 Gene

protein-coding   GIFtS: 65
GCID: GC01M022443

wingless-type MMTV integration site family, member 4
 Explore 36 diseases affiliated with
WNT4 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for WNT4    

Aliases
for WNT4 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Wingless-Type MMTV Integration Site Family, Member 41 2
WNT-41 2
SERKAL2 5
Protein Wnt-42

External Ids:    HGNC: 127831   Entrez Gene: 543612   Ensembl: ENSG000001625527   OMIM: 6034905   UniProtKB: P567053   

Export aliases for WNT4 gene to outside databases

Previous GC identifers: GC01M022016 GC01M021481 GC01M021592 GC01M021915 GC01M022190 GC01M022318 GC01M020688


Summaries
for WNT4 gene

(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 WNT4:
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)

UniProtKB/Swiss-Prot: WNT4_HUMAN, P56705
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 Wiki entry for WNT4


Genomic Views
for WNT4 gene

(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_000001.10  NC_018912.1  NT_004610.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the WNT4 gene promoter:
         AhR   Spz1   p53   FOXO3   MyoD   FOXO3b   HEN1   FOXO3a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: WNT4 promoter sequence
   Search SABiosciences Chromatin IP Primers for WNT4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat WNT4


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

Entrez Gene cytogenetic band: 1p36.23-p35.1   Ensembl cytogenetic band:  1p36.12   HGNC cytogenetic band: 1p36.23-p35.1

WNT4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
WNT4 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M022443:  view genomic region     (about GC identifiers)

Start:
 22,443,798 bp from pter      End:
 22,470,462 bp from pter
Size:
 26,665 bases      Orientation:
 minus strand

Proteins
for WNT4 gene

(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: WNT4_HUMAN, P56705 (See protein sequence)
Recommended Name: Protein Wnt-4 precursor  
Size: 351 amino acids; 39052 Da
Subunit: Interacts with PORCN (By similarity)
Subcellular location: Secreted, extracellular space, extracellular matrix
Secondary accessions: Q5TZQ0 Q96T81 Q9BXF5 Q9H1J8 Q9UJM2

Explore the universe of human proteins at neXtProt for WNT4: NX_P56705

Post-translational modifications:

  • Palmitoylation at Ser-212 is required for efficient binding to frizzled receptors. It is also required for subsequent
    • palmitoylation at Cys-78. Palmitoylation is necessary for proper trafficking to cell surface (By similarity)1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P56705

    • WNT4 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_110388.2  
    ENSEMBL proteins: 
     ENSP00000290167   ENSP00000403334   ENSP00000388925   ENSP00000441033  
    Reactome Protein details: P56705
    Human Recombinant Protein Products: 
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    OriGene Protein Over-expression Lysate: WNT4
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    Novus Biologicals WNT4 Protein
    Novus Biologicals WNT4 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for WNT4

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005578proteinaceous extracellular matrix IEA--
    GO:0005615extracellular space IDA16959810
    GO:0005737cytoplasm IDA16959810
    GO:0005794Golgi apparatus IBA--
    GO:0005886plasma membrane IBA--


    WNT4 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for WNT4

    Protein Domains /
    Families
    for WNT4 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    WNT4 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR009142 Wnt4
     IPR005817 Wnt
     IPR018161 Wnt_CS

    Graphical View of Domain Structure for InterPro Entry P56705

    ProtoNet protein and cluster: P56705

    1 Blocks protein family: IPB005816 Secreted growth factor Wnt protein

    UniProtKB/Swiss-Prot: WNT4_HUMAN, P56705
    Similarity: Belongs to the Wnt family


    Function
    for WNT4 gene

    (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: WNT4_HUMAN, P56705
    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

         Summary:  

    During embryonic development, WNT4 as signaling molecule is secreted from the following cells: Interzone Cells in Stylopod Synovial Joint, Interzone Cells in Zeugopod Synovial Joint (see all 4).

    It affects the following cells: Articular Cartilage Cells in Autopod Articular Cartilage, Articular Cartilage Cells in Zeugopod Articular Cartilage (see all 4).

    miRNA
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    8/47 QIAGEN miScript miRNA Assays for microRNAs that regulate WNT4 (see all 47):
    hsa-miR-194* hsa-miR-517a hsa-miR-15a hsa-miR-517c hsa-miR-503 hsa-miR-650 hsa-miR-29b-1* hsa-miR-424
    SwitchGear 3'UTR luciferase reporter plasmid: WNT4 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for WNT4 (see all 7)
    OriGene shRNA RFP: WNT4
    OriGene siRNA: WNT4
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    Gene Editing
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    Clone
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    Cell Line
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    Search LifeMap BioReagents cell lines for WNT4

    In Situ Assay
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    Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001664G-protein coupled receptor binding IBA--
    GO:0003714transcription corepressor activity ISS--
    GO:0005102receptor binding ----
    GO:0005109frizzled binding IEA--
    GO:0005201extracellular matrix structural constituent NAS--


    WNT4 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-outs for WNT4: Wnt4tm1.2Boer Wnt4tm1Amc Wnt4tm1.2Bhr
         14 MGI mutant phenotypes (inferred from 10 alleles) (MGI details for Wnt4):
     cellular  embryogenesis  endocrine/exocrine gland  growth/size  hematopoietic system 
     immune system  integument  limbs/digits/tail  mortality/aging  nervous system 
     no phenotypic analysis  normal  renal/urinary system  reproductive system 

    WNT4 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for WNT4 gene

    (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 - 5/14 super-pathways (see all 14) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Wnt Signaling Pathway
    		Wnt Signaling Pathway1.00
    		Wnt Signaling Pathway0.33
    		Wnt Signaling Pathway and Pluripotency0.55
    		Wnt signaling pathway0.30
    		DNA damage response (only ATM dependent)0.35
    		Wnt Signaling Pathway NetPath0.22
    2Basal cell carcinoma
    		Basal cell carcinoma1.00
    		Wnt Pathway0.37
    		Hedgehog signaling pathway0.41
    		Melanogenesis0.32
    3Translation_Non-genomic (rapid) action of Androgen Receptor
    		Translation_Non-genomic (rapid) action of Androgen Receptor1.00
    		Translation Non-genomic (rapid) action of Androgen Receptor0.99
    4Transcription_Androgen Receptor nuclear signaling
    		Transcription_Androgen Receptor nuclear signaling1.00
    		Transcription Androgen Receptor nuclear signaling0.99
    5Nanog in Mammalian ESC Pluripotency
    		Nanog in Mammalian ESC Pluripotency1.00
    		GSK3 Signaling0.61

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    2 EMD Millipore Pathways for WNT4
        Transcription Androgen Receptor nuclear signaling
    Translation Non-genomic (rapid) action of Androgen Receptor

    1 R&D Systems Pathway for WNT4
        Wnt Signaling Pathway

    5/7 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for WNT4 (see all 7)
        GSK3 Signaling
    Presenilin-Mediated Signaling
    Colorectal Cancer Metastasis
    Human Embryonic Stem Cell Pluripotency
    Nanog in Mammalian ESC Pluripotency

    1 Tocris Bioscience Pathway for WNT4
        Wnt Pathway

    2 GeneGo (Thomson Reuters) Pathways for WNT4
        Transcription Androgen Receptor nuclear signaling
    Translation Non-genomic (rapid) action of Androgen Receptor

    4 BioSystems Pathways for WNT4 
        DNA damage response (only ATM dependent)
    Wnt Signaling Pathway and Pluripotency
    Wnt Signaling Pathway
    Wnt Signaling Pathway NetPath

    4        Reactome Pathways for WNT4
        Signal Transduction
    Signaling by GPCR
    GPCR ligand binding
    Class B/2 (Secretin family receptors)


    5         Kegg Pathways  (Kegg details for WNT4):
        Wnt signaling pathway
    Hedgehog signaling pathway
    Melanogenesis
    Pathways in cancer
    Basal cell carcinoma


    WNT4 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for WNT4

    STRING Interaction Network Preview (showing 5 interactants - click image to see 19)

    5/45 Interacting proteins for WNT4 (P567053 ENSP000002901674) via UniProtKB, MINT, STRING, and/or I2D (see all 45)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FZD1Q9UP383, ENSP000002879344I2D: score=2 STRING: ENSP00000287934
    FZD5Q134673, ENSP000003546074I2D: score=2 STRING: ENSP00000354607
    FZD6O603533, ENSP000003516054I2D: score=2 STRING: ENSP00000351605
    PTENP604843, ENSP000003610214I2D: score=1 STRING: ENSP00000361021
    PORCNQ9H2373, ENSP000003223044I2D: score=5 STRING: ENSP00000322304
    About this table

    Gene Ontology (GO): 5/71 biological process terms (GO ID links to tree view) (see all 71):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001656metanephros development IBA--
    GO:0001658branching involved in ureteric bud morphogenesis IBA--
    GO:0001822kidney development IEP15312687
    GO:0001823mesonephros development ----
    GO:0001837epithelial to mesenchymal transition IEP12841867


    WNT4 for ontologies           About GeneDecksing



    Drugs & Compounds
    for WNT4 gene

    (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

    WNT4 for compounds           About GeneDecksing

    EMD Millipore small molecules for WNT4:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for WNT4
    2 Novoseek chemical compound relationships for WNT4 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    testosterone 13.4 2 15317892 (1), 12949260 (1)
    progesterone 6.8 2 17711857 (1), 12949260 (1)

    Search CenterWatch for drugs/clinical trials and news about WNT4 

    Transcripts
    for WNT4 gene

    (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 WNT4 gene: 
    NM_030761.4  

    Unigene Cluster for WNT4:

    Wingless-type MMTV integration site family, member 4
    Hs.25766  [show with all ESTs]
    Unigene Representative Sequence: NM_030761
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000290167(uc001bfs.4) ENST00000415567 ENST00000441048 ENST00000542383(uc010odt.2)


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    Inhib. RNA
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    Clone
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    Primer
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    Additional cDNA sequence: 

    AB061675.1 AF316543.1 AK296058.1 AY009398.1 AY358947.1 BC007386.2 BC057781.1 BT020125.1 

    3 DOTS entries:

    DT.70104953  DT.70105154  DT.97800841 

    24/50 AceView cDNA sequences (see all 50):

    NM_030761 BQ268938 AI139742 BC057781 CK821661 BE218554 AI634496 BM128213 
    CK821662 AW137060 AF316543 BQ269212 BF448386 AY009398 BM894135 AY358947 
    AI971394 AI871742 BE549894 BU947973 BM673340 BM544112 AI267902 AI634480 

    GeneLoc Exon Structure


    Expression
    for WNT4 gene

    (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

    WNT4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CAACAAGACG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    WNT4 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 CellCategory (developmental path)
    KidneyPretubular AggregatesPretubular Aggregate CellsKidney
    OvaryOvigerous CordOvarian Somatic CellsOvary
    CartilageAutopod Articular CartilageArticular Cartilage CellsCartilage
    CartilageStylopod Articular CartilageArticular Cartilage CellsCartilage
    CartilageZeugopod Articular CartilageArticular Cartilage CellsCartilage
    KidneyRenal VesicleDistal Renal Vesicle CellsKidney
    KidneyRenal VesicleProximal Renal Vesicle CellsKidney
    KidneyS-shaped Body Medial SegmentS-shaped Body Medial CellsKidney
    Lateral Plate MesodermIntraembryonic CoelomCoelomic Epithelial CellsReproductive System
    LimbAutopod Synovial JointInterzone CellsCartilage
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 4 LifeMap Cells 
    NameCategory
    mK4 (Cell line)Kidney
    mK3 (Cell line)Kidney
    Secondary follicles (Primary Cell)Ovary, Reproductive System
    Renal-like cells (Derivation of renal-...)

    See WNT4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for WNT4

    SOURCE GeneReport for Unigene cluster: Hs.25766
        SABiosciences Expression via Pathway-Focused PCR Arrays including WNT4: 
              Notch Signaling Targets in human mouse rat
              Estrogen Receptor Signaling in human mouse rat
              Hedgehog Signaling Pathway in human mouse rat
              WNT Signaling Pathway in human mouse rat

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    In Situ
    Assay Products:     
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    Orthologs
    for WNT4 gene

    (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 WNT4 gene from 6/20 species (see all 20)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves WNT41 wingless-type MMTV integration site family, member more 81.2(n)
    85.47(a)    		   395561  NM_204783.1  NP_990114.1 
    lizard
    (Anolis carolinensis)    		 Reptilia WNT46
    		 --
    		 87(a)
    		 1 ↔ 1
    		 AAWZ02037479(11289-12989)
    African clawed frog
    (Xenopus laevis)    		 Amphibia Xwnt-42 (Xwnt-4) 77.18(n)    U13183.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii wnt4a2 wnt4a 80.56(n)   30123  U25141.1 
    honey bee
    (Apis mellifera)    		 Insecta --
    		 --
    		 40(a)
    		 1 ↔ 1
    		 Group1.29(123474-142553)
    worm
    (Caenorhabditis elegans)    		 Secernentea cwn-11 , 3 Expression: embryo, L1 larva, L2 larva, L3
    larva, more3
    Protein CWN-11    		 46(a)
    (best of 5)3
    50.64(n)1
    46.88(a)1    		   II(131165-133577)3
    1733991  NM_061267.31  NP_493668.11 


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

    Paralogs
    for WNT4 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for WNT4 gene
    WNT5B2  WNT162  WNT5A2  WNT62  WNT112  WNT22  WNT2B2  WNT3A2  
    WNT12  WNT10B2  WNT7A2  WNT7B2  WNT10A2  WNT32  
    18 SIMAP similar genes for WNT4 using alignment to 5 protein entries:     WNT4_HUMAN (see all proteins):
    WNT2    WNT2B    WNT3A    WNT3    WNT7A    WNT5A
    WNT7B    WNT16    WNT5B    WNT11    WNT10B    WNT1
    WNT9B    WNT9A    WNT6    WNT8B    WNT8A    WNT10A

    WNT4 for paralogs           About GeneDecksing



    Genomic Variants
    for WNT4 gene

    (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

    10/460 NCBI SNPs in WNT4 are shown (see all 460)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 1 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs350083901,2
    		C,--22443317(+) GATCTC/-CCCAT 1 -- ds50011Minor allele frequency- -:0.50NA 2
    rs581190531,2
    		C--22443319(+) TCCCA-/CTCAGC 1 -- ds50010--------
    rs124064951,2
    		H--22443465(+) AGAAAA/CTAAGT 1 -- ds50010--------
    rs728792911,2
    		C,F,--22443482(+) CCCTCA/TTCCCC 1 -- ds50014Minor allele frequency- T:0.11WA CSA NA 242
    rs1447424301,2
    		--22443587(+) AGCTGA/GTCATG 1 -- ds50010--------
    rs22355301,2
    		C,F,H,--22443760(-) GAAGAG/AACTTG 1 -- ds500117Minor allele frequency- A:0.12EA NS NA CSA 3416
    rs1143733491,2
    		F,--22443763(+) GTCTCT/GTCTCC 1 -- ds50011Minor allele frequency- G:0.02WA 118
    rs1481065701,2
    		--22443796(+) GTCACA/GATTGC 1 -- ds50010--------
    rs1902319921,2
    		C,--22443827(+) TTATCA/GTGCAT 1 -- ut310--------
    rs1418833801,2
    		--22443862(+) ATGGCA/CAAGAG 1 -- ut310--------

    HapMap Linkage Disequilibrium report for WNT4 (22443798 - 22470462 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for WNT4: --
    Human Gene Mutation Database (HGMD): WNT4

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing WNT4
    DNA2.0 Custom Variant and Variant Library Synthesis for WNT4

    Disorders / Diseases
    for WNT4 gene

    (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
    WNT4 for disorders           About GeneDecksing

    OMIM gene information: 603490   
    OMIM disorders: 611812  158330  
    UniProtKB/Swiss-Prot: WNT4_HUMAN, P56705
  • Defects in WNT4 are a cause of Rokitansky-Kuster-Hauser syndrome (RKH syndrome) [MIM:277000]; also called
    • Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH syndrome or MRKH anomaly). RKH syndrome is characterized by
    utero-vaginal atresia in otherwise phenotypically normal female with a normal 46,XX karyotype. Anomalies of the
    genital tract range from upper vaginal atresia to total Muellerian agenesis with urinary tract abnormalities. It has
    an incidence of approximately 1 in 5'000 newborn girls
  • Defects in WNT4 are the cause of female sex reversal with dysgenesis of kidneys, adrenals, and lungs (SERKAL)
    • [MIM:611812]; also known as SERKAL syndrome
  • Defects in WNT4 are the cause of Muellerian aplasia (MULLAPL) [MIM:158330]

    • 20/36 diseases for WNT4 (see all 36):    About MalaCards
    rokitansky-kuster-hauser syndrome    mayer-rokitansky-kuster-hauser syndrome    46, xy disorders of sex development    serkal syndrome
    dosage-sensitive sex reversal    disorders of sex development    gonadal dysgenesis    mullerian aplasia
    sex reversal    mullerian aplasia and hyperandrogenism    premature ovarian failure    virilization
    polycystic ovary syndrome    hyperandrogenism    basal cell carcinoma    chronic lymphocytic leukemia
    breast-ovarian cancer    eaf    lymphocytic leukemia    pituitary adenoma

    3 Novoseek disease relationships for WNT4 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    virilization 60.8 4 15317892 (1), 15988165 (1), 15581876 (1), 11283799 (1)
    tumors 6.47 1 8168088 (1)
    breast cancer 0 1 16501043 (1)

    GeneTests: WNT4
    46,XY Disorder of Sex Development and 46,XY Complete Gonadal Dysgenesis

    Human Genome Epidemiology (HuGE) Navigator: WNT4 (4 documents)

    Export disorders for WNT4 gene to outside databases

    Publications
    for WNT4 gene

    (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 WNT4 gene, integrated from 9 sources (see all 110):
    (articles sorted by number of sources associating them with WNT4)    		    Utopia: connect your pdf to the dynamic
    world of online information

    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. (PubMed id 8168088)1, 2, 3, 9 Huguet E.L.... Harris A.L. (1994)
    2. WNT4 deficiency-a clinical phenotype distinct from the classic Mayer- Rokitansky-Kuster-Hauser syndrome: a case report. (PubMed id 16959810)1, 2, 9 Biason-Lauber A....Schoenle E.J. (2007)
    3. A WNT4 mutation associated with Muellerian-duct regression and virilization in a 46,XX woman. (PubMed id 15317892)1, 2, 9 Biason-Lauber A.... Schoenle E.J. (2004)
    4. Up-regulation of wnt-4 signaling and dosage-sensitive sex reversal in humans. (PubMed id 11283799)1, 2, 9 Jordan B.K.... Vilain E. (2001)
    5. Identification and functional analysis of a new WNT4 gene mutation among 28 adolescent girls with primary amenorrhea and Muellerian duct abnormalities: a French collaborative study. (PubMed id 18182450)1, 2 Philibert P.... Sultan C. (2008)
    6. SERKAL syndrome: an autosomal-recessive disorder caused by a loss-of- function mutation in WNT4. (PubMed id 18179883)1, 2 Mandel H....Sprecher E. (2008)
    7. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    9. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (2003)
    10. Down-regulation of Wnt-4 and up-regulation of Wnt-5a expression by epithelial-mesenchymal transition in human squamous carcinoma cells. (PubMed id 12841867)1, 9 Taki M....Nagayama M. (2003)

    External Searches for WNT4 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing WNT4 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 54361 HGNC: 12783 AceView: WNT4 Ensembl:ENSG00000162552 euGenes: HUgn54361
    ECgene: WNT4 Kegg: 54361 H-InvDB: WNT4

    Other Databases showing WNT4 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing WNT4 gene

    (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
    NameDescription
    PharmGKB entry for WNT4 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for WNT4 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/WNT4

    Intellectual Property
    for WNT4 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for WNT4 gene:
    Search GeneIP for patents involving WNT4

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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