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

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: mouse all
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Genomic context

Location:: 1p36.12

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (22117313..22143097, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (21941071..21966860, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (22443806..22469590, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

WNT4 (rs7521902 and rs16826658) polymorphism and its association with endometriosis - A systematic review and meta-analysis.
Title: WNT4 (rs7521902 and rs16826658) polymorphism and its association with endometriosis - A systematic review and meta-analysis.
WNT4 promotes macrophage polarization via granulosa cell M-CSF and reduces granulosa cell apoptosis in endometriosis.
Title: WNT4 promotes macrophage polarization via granulosa cell M-CSF and reduces granulosa cell apoptosis in endometriosis.
WNT4 Regulates Cellular Metabolism via Intracellular Activity at the Mitochondria in Breast and Gynecologic Cancers.
Title: WNT4 Regulates Cellular Metabolism via Intracellular Activity at the Mitochondria in Breast and Gynecologic Cancers.
Mutation analysis of WNT4 gene in SRY negative 46,XX DSD patients with Mullerian agenesis and/or gonadal dysgenesis- An Indian study.
Title: Mutation analysis of WNT4 gene in SRY negative 46,XX DSD patients with Mullerian agenesis and/or gonadal dysgenesis- An Indian study.
Serum WNT4 protein as an indicator of chronic glomerulonephritis but not a marker of inflammatory cell infiltration and fibrosis: A preliminary study.
Title: Serum WNT4 protein as an indicator of chronic glomerulonephritis but not a marker of inflammatory cell infiltration and fibrosis: A preliminary study.
Wnt4, Wnt6 and beta-catenin expression in human placental tissue - is there a link with first trimester miscarriage? Results from a pilot study.
Title: Wnt4, Wnt6 and β-catenin expression in human placental tissue - is there a link with first trimester miscarriage? Results from a pilot study.
A circular RNA, circUSP36, accelerates endothelial cell dysfunction in atherosclerosis by adsorbing miR-637 to enhance WNT4 expression.
Title: A circular RNA, circUSP36, accelerates endothelial cell dysfunction in atherosclerosis by adsorbing miR-637 to enhance WNT4 expression.
Genetic analyses of gynecological disease identify genetic relationships between uterine fibroids and endometrial cancer, and a novel endometrial cancer genetic risk region at the WNT4 1p36.12 locus.
Title: Genetic analyses of gynecological disease identify genetic relationships between uterine fibroids and endometrial cancer, and a novel endometrial cancer genetic risk region at the WNT4 1p36.12 locus.
WNT4 secreted by tumor tissues promotes tumor progression in colorectal cancer by activation of the Wnt/beta-catenin signalling pathway.
Title: WNT4 secreted by tumor tissues promotes tumor progression in colorectal cancer by activation of the Wnt/β-catenin signalling pathway.
Analysis of copy number variations of WNT4 gene in a Chinese population with Mullerian anomalies.
Title: Analysis of copy number variations of WNT4 gene in a Chinese population with Müllerian anomalies.

Submit: New GeneRIF Correction See all GeneRIFs (79)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

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

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Wnt4 (e-PCR), detects polymorphism
- UniSTS:526100

D1S1386 (e-PCR)
- UniSTS:149582

SHGC-74348 (e-PCR)
- UniSTS:74584

SHGC-106323 (e-PCR)
- UniSTS:169817

SHGC-74353 (e-PCR)
- UniSTS:71618

NoName (e-PCR)
- UniSTS:480465

WNT4_1928 (e-PCR)
- UniSTS:281079

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

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Preferred Names: protein Wnt-4

Names: wingless-type MMTV integration site family, member 4

NCBI Reference Sequences (RefSeq)

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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

NG_008974.1 RefSeqGene

Range

4930..30714

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_030761.5 → NP_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:43 → 351

Wnt_Wnt4; Wnt domain found in protein Wnt-4 and similar proteins

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

22117313..22143097 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

Q8IUM6

Conserved Domains (1) summary

pfam00110
Location:71 → 373

wnt; wnt family
XM_011541599.2 → XP_011539901.1 protein Wnt-4 isoform X2

Conserved Domains (1) summary

cl19568
Location:67 → 127

wnt; wnt family