Format

Send to:

Choose Destination

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

Gene ID: 54361, updated on 3-May-2020

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
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

Genomic context

See WNT4 in Genome Data Viewer
Location:
1p36.12
Exon count:
8
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (22117308..22143981, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (22443798..22470474, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 339 Neighboring gene CDC42 antisense RNA 1 Neighboring gene MPHOSPH6 pseudogene 1 Neighboring gene cell division cycle 42 Neighboring gene uncharacterized LOC105376845 Neighboring gene uncharacterized LOC105376850 Neighboring gene uncharacterized LOC107985377

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

NHGRI GWAS Catalog

Description
A genome-wide association study identifies genetic variants in the CDKN2BAS locus associated with endometriosis in Japanese.
NHGRI GWA Catalog
Genome-wide association meta-analysis identifies new endometriosis risk loci.
NHGRI GWA Catalog
Genome-wide association study link novel loci to endometriosis.
NHGRI GWA Catalog
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA 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.
NHGRI GWA Catalog
Wnt signaling and Dupuytren's disease.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

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
    P56705
    Related
    ENSP00000290167.5, ENST00000290167.11
    Conserved Domains (1) summary
    pfam00110
    Location:45351
    wnt; wnt family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    22117308..22143981 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011541598.2XP_011539900.1  protein Wnt-4 isoform X2

    See identical proteins and their annotated locations for XP_011539900.1

    UniProtKB/Swiss-Prot
    P56705
    Conserved Domains (1) summary
    pfam00110
    Location:1296
    wnt; wnt family
  2. XM_011541597.2XP_011539899.1  protein Wnt-4 isoform X1

    Conserved Domains (1) summary
    pfam00110
    Location:71373
    wnt; wnt family
  3. XM_011541599.1XP_011539901.1  protein Wnt-4 isoform X3

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