Gene Gene information from NCBI Gene database.
Entrez ID 54361
Gene name Wnt family member 4
Gene symbol WNT4
Synonyms (NCBI Gene)
SERKALWNT-4
Chromosome 1
Chromosome location 1p36.12
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 embryog
SNPs SNP information provided by dbSNP.
3
SNP ID Visualize variation Clinical significance Consequence
rs121908650 T>C Pathogenic Genic downstream transcript variant, missense variant, coding sequence variant
rs121908651 G>A Pathogenic Genic downstream transcript variant, missense variant, coding sequence variant
rs121908652 G>A Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
209
miRTarBase ID miRNA Experiments Reference
MIRT006385 hsa-miR-29c-3p Luciferase reporter assay 21436257
MIRT006385 hsa-miR-29c-3p Luciferase reporter assay 21436257
MIRT006385 hsa-miR-29c-3p Luciferase reporter assay 21436257
MIRT438738 hsa-miR-16-5p qRT-PCRWestern blotYFP expression 24130753
MIRT438608 hsa-miR-24-3p Luciferase reporter assay 23027131
Transcription factors Transcription factors information provided by TRRUST V2 database.
4
Transcription factor Regulation Reference
EGR1 Repression 18281035
EGR1 Unknown 21436631
RUNX3 Repression 22171134
TCF4 Unknown 21436631
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
107
GO ID Ontology Definition Evidence Reference
GO:0001656 Process Metanephros development IEA
GO:0001658 Process Branching involved in ureteric bud morphogenesis IEA
GO:0001822 Process Kidney development IEP 15312687
GO:0001823 Process Mesonephros development IEA
GO:0001837 Process Epithelial to mesenchymal transition IEP 12841867
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603490 12783 ENSG00000162552
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P56705
Protein name Protein Wnt-4
Protein function Ligand for members of the frizzled family of seven transmembrane receptors (Probable). Plays an important role in the embryonic development of the urogenital tract and the lung (PubMed:15317892, PubMed:16959810, PubMed:18179883, PubMed:18182450)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00110 wnt 45 351 wnt family Family
Sequence
Sequence length 351
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  mTOR signaling pathway
Wnt signaling pathway
Axon guidance
Hippo signaling pathway
Signaling pathways regulating pluripotency of stem cells
Melanogenesis
Thyroid hormone signaling pathway
Cushing syndrome
Alzheimer disease
Pathways of neurodegeneration - multiple diseases
Human papillomavirus infection
Pathways in cancer
Proteoglycans in cancer
Basal cell carcinoma
Breast cancer
Hepatocellular carcinoma
Gastric cancer
  WNT ligand biogenesis and trafficking
PCP/CE pathway
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
49
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Mullerian aplasia and hyperandrogenism Pathogenic rs121908650, rs121908652, rs121908653 RCV000006688
RCV000006690
RCV000006691
SERKAL syndrome Pathogenic rs121908651 RCV000006689
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Mayer-Rokitansky-Kuster-Hauser syndrome Uncertain significance rs1334778982 RCV000714700
WNT4-related disorder Likely benign; Uncertain significance; Benign rs201963772, rs924091975, rs557427439, rs372735339, rs143835757, rs779327911, rs2522465430, rs774167732 RCV003906286
RCV003399648
RCV003404197
RCV003909017
RCV003956467
RCV003982711
RCV003896380
RCV003954700
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abortion Spontaneous Associate 35300692
Acquired ichthyosis Associate 36303457
Amyotrophic Lateral Sclerosis Stimulate 30924074
Asthma Associate 29505605
Breast Neoplasms Associate 31740580, 38112643
Carcinoma Basal Cell Inhibit 11348463
Carcinoma Hepatocellular Associate 18577996
Carcinoma Lobular Associate 27650553, 38112643
Carcinoma Renal Cell Associate 33804101
Carcinoma Squamous Cell Associate 12841867, 25901368