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    WNT4 Wnt family member 4 [ Homo sapiens (human) ]

    Gene ID: 54361, updated on 1-Mar-2024

    Summary

    Official Symbol
    WNT4provided by HGNC
    Official Full Name
    Wnt family member 4provided by HGNC
    Primary source
    HGNC:HGNC:12783
    See related
    Ensembl:ENSG00000162552 MIM:603490; AllianceGenome:HGNC:12783
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    WNT-4; SERKAL
    Summary
    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]
    Expression
    Biased expression in skin (RPKM 8.0), ovary (RPKM 4.5) and 13 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See WNT4 in Genome Data Viewer
    Location:
    1p36.12
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (22117313..22143097, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (21941071..21966860, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (22443806..22469590, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 3950 Neighboring gene long intergenic non-protein coding RNA 1635 Neighboring gene long intergenic non-protein coding RNA 339 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 347 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_5374 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 394 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:22379623-22380190 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:22380191-22380759 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:22387820-22388320 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:22388321-22388821 Neighboring gene MPHOSPH6 pseudogene 1 Neighboring gene cell division cycle 42 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 397 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 348 Neighboring gene Sharpr-MPRA regulatory region 8542 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_5416 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 349 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 398 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:22446773-22447390 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:22448010-22448627 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_5420 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:22457824-22458584 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:22458585-22459343 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:22459683-22460408 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:22462663-22463176 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:22465050-22466004 Neighboring gene uncharacterized LOC105376845 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 399 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 400 Neighboring gene uncharacterized LOC105376850 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 350 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 351 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:22498925-22499424 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:22555405-22556038 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:22558878-22559426 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:22559427-22559973 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:22562845-22563345 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:22574593-22575302 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:22575303-22576012 Neighboring gene uncharacterized LOC107985377 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:22580206-22581110 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:22581111-22582013

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Mullerian aplasia and hyperandrogenism
    MedGen: C2675014 OMIM: 158330 GeneReviews: Not available
    Compare labs
    SERKAL syndrome
    MedGen: C2678492 OMIM: 611812 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    A genome-wide association study identifies genetic variants in the CDKN2BAS locus associated with endometriosis in Japanese.
    EBI GWAS Catalog
    Genome-wide association meta-analysis identifies new endometriosis risk loci.
    EBI GWAS Catalog
    Genome-wide association study link novel loci to endometriosis.
    EBI GWAS Catalog
    Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog
    Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment.
    EBI GWAS Catalog
    Wnt signaling and Dupuytren's disease.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cytokine activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables frizzled binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables receptor ligand activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables transcription corepressor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    involved_in Sertoli cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in adrenal gland development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in apoptotic signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in branching involved in ureteric bud morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in canonical Wnt signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in canonical Wnt signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cell fate commitment IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cellular response to starvation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to transforming growth factor beta stimulus IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in embryonic epithelial tube formation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in epithelial to mesenchymal transition IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in female gonad development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in female sex determination IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in fibroblast growth factor receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in hormone metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in immature T cell proliferation in thymus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in kidney development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in liver development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in male gonad development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in male gonad development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in mammary gland epithelium development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in meiotic nuclear division IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mesenchymal to epithelial transition IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in metanephric mesenchymal cell differentiation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in metanephric nephron morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in metanephric tubule formation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of DNA-templated transcription IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of DNA-templated transcription ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of androgen biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of apoptotic signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of cell migration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of fibroblast growth factor receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of gene expression IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of male gonad development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of steroid biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of testicular blood vessel morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of testosterone biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of wound healing IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neuron differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in non-canonical Wnt signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in oocyte development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in paramesonephric duct development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in pericyte cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of DNA-templated transcription ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in positive regulation of MAPK cascade IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of aldosterone biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of bone mineralization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of collagen biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of cortisol biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of dermatome development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of focal adhesion assembly IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of meiotic nuclear division IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of osteoblast differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of stress fiber assembly IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of cell-cell adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in renal vesicle formation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in renal vesicle induction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in smooth muscle cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in somatotropin secreting cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in tertiary branching involved in mammary gland duct morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in thyroid-stimulating hormone-secreting cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in Golgi lumen TAS
    Traceable Author Statement
    more info
     
    located_in cell surface ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endocytic vesicle membrane TAS
    Traceable Author Statement
    more info
     
    located_in endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
     
    located_in extracellular exosome TAS
    Traceable Author Statement
    more info
     
    located_in extracellular matrix IEA
    Inferred from Electronic Annotation
    more info
     
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    protein Wnt-4
    Names
    wingless-type MMTV integration site family, member 4

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008974.1 RefSeqGene

      Range
      4930..30714
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_030761.5NP_110388.2  protein Wnt-4 precursor

      See identical proteins and their annotated locations for NP_110388.2

      Status: REVIEWED

      Source sequence(s)
      AF316543, AL031281, AL445253, BC057781
      Consensus CDS
      CCDS223.1
      UniProtKB/Swiss-Prot
      B4DJF9, P56705, Q5TZQ0, Q96T81, Q9BXF5, Q9H1J8, Q9UJM2
      UniProtKB/TrEMBL
      Q8IUM6
      Related
      ENSP00000290167.5, ENST00000290167.11
      Conserved Domains (1) summary
      cd19336
      Location:43351
      Wnt_Wnt4; Wnt domain found in protein Wnt-4 and similar proteins

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      22117313..22143097 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011541597.3XP_011539899.1  protein Wnt-4 isoform X1

      UniProtKB/TrEMBL
      Q8IUM6
      Conserved Domains (1) summary
      pfam00110
      Location:71373
      wnt; wnt family
    2. XM_011541599.2XP_011539901.1  protein Wnt-4 isoform X2

      Conserved Domains (1) summary
      cl19568
      Location:67127
      wnt; wnt family

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      21941071..21966860 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054337105.1XP_054193080.1  protein Wnt-4 isoform X1

      UniProtKB/TrEMBL
      Q8IUM6
    2. XM_054337106.1XP_054193081.1  protein Wnt-4 isoform X2