WNT4 Chromosome 1
Wnt family member 4
Upload your DNA to see your personal genotypes for variants in WNT4.
What This Gene Does
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]
Gene Info
Gene Group
Wnt family
Locus Type
gene with protein product
Location
1p36.12
Ensembl
ENSG00000162552
Associated Conditions (2)
Mullerian aplasia and hyperandrogenism
SERKAL syndrome
Key Variants
RS150242481
Conflicting classifications of pathogenicity
Mullerian aplasia and hyperandrogenism, SERKAL syndrome, Mullerian aplasia and hyperandrogenism
Health Risk
RS368885409
Conflicting classifications of pathogenicity
Mullerian aplasia and hyperandrogenism, SERKAL syndrome, Mullerian aplasia and hyperandrogenism
Health Risk
RS121908650
Pathogenic
Mullerian aplasia and hyperandrogenism, Mullerian aplasia and hyperandrogenism
Health Risk
RS121908651
Pathogenic
SERKAL syndrome, SERKAL syndrome
Health Risk
RS121908652
Pathogenic
Mullerian aplasia and hyperandrogenism, Mullerian aplasia and hyperandrogenism
Health Risk
RS121908653
Pathogenic
Mullerian aplasia and hyperandrogenism, Mullerian aplasia and hyperandrogenism
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS150242481 | Health Risk | Conflicting classifications of pathogenicity | Mullerian aplasia and hyperandrogenism, SERKAL syndrome, Mullerian aplasia and hyperandrogenism |
| RS368885409 | Health Risk | Conflicting classifications of pathogenicity | Mullerian aplasia and hyperandrogenism, SERKAL syndrome, Mullerian aplasia and hyperandrogenism |
| RS121908650 | Health Risk | Pathogenic | Mullerian aplasia and hyperandrogenism, Mullerian aplasia and hyperandrogenism |
| RS121908651 | Health Risk | Pathogenic | SERKAL syndrome, SERKAL syndrome |
| RS121908652 | Health Risk | Pathogenic | Mullerian aplasia and hyperandrogenism, Mullerian aplasia and hyperandrogenism |
| RS121908653 | Health Risk | Pathogenic | Mullerian aplasia and hyperandrogenism, Mullerian aplasia and hyperandrogenism |