WNT3 Chromosome 17
Wnt family member 3
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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. It encodes a protein which shows 98% amino acid identity to mouse Wnt3 protein, and 84% to human WNT3A protein, another WNT gene product. The mouse studies show the requirement of Wnt3 in primary axis formation in the mouse. Studies of the gene expression suggest that this gene may play a key role in some cases of human breast, rectal, lung, and gastric cancer through activation of the WNT-beta-catenin-TCF signaling pathway. This gene is clustered with WNT15, another family member, in the chromosome 17q21 region. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Wnt family
Locus Type
gene with protein product
Location
17q21.31-q21.32
Ensembl
ENSG00000108379
Associated Conditions (2)
Bladder exstrophy-epispadias-cloacal extrophy complex
Tetraamelia syndrome 1
Key Variants
RS749737942
Conflicting classifications of pathogenicity
Health Risk
RS786205887
Likely pathogenic
Bladder exstrophy-epispadias-cloacal extrophy complex, Bladder exstrophy-epispadias-cloacal extrophy complex
Health Risk
RS104894653
Pathogenic
Tetraamelia syndrome 1, Tetraamelia syndrome 1
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS749737942 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS786205887 | Health Risk | Likely pathogenic | Bladder exstrophy-epispadias-cloacal extrophy complex, Bladder exstrophy-epispadias-cloacal extrophy complex |
| RS104894653 | Health Risk | Pathogenic | Tetraamelia syndrome 1, Tetraamelia syndrome 1 |