Gene: WNT5A

Alternate names for this Gene: hWNT5A

Gene 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 encodes a member of the WNT family that signals through both the canonical and non-canonical WNT pathways. This protein is a ligand for the seven transmembrane receptor frizzled-5 and the tyrosine kinase orphan receptor 2. This protein plays an essential role in regulating developmental pathways during embryogenesis. This protein may also play a role in oncogenesis. Mutations in this gene are the cause of autosomal dominant Robinow syndrome. Alternate splicing results in multiple transcript variants.

Gene is located in Chromosome: 3

Location in Chromosome : 3p14.3

Description of this Gene: Wnt family member 5A

Type of Gene: protein-coding

rs815540 in WNT5A gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs387906663 in WNT5A gene and ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1 PMID 19918918 2010 WNT5A mutations in patients with autosomal dominant Robinow syndrome.

rs786200925 in WNT5A gene and Robinow Syndrome PMID 19918918 2010 WNT5A mutations in patients with autosomal dominant Robinow syndrome.

PMID 24716670 2015 De novo WNT5A-associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype.