WNT5B

Chr 12

Wnt family member 5B

NCBI Gene: 81029 ENSG00000111186 UniProt: Q9H1J7

WNT5B encodes a secreted signaling protein that serves as a ligand for frizzled receptors and functions as a developmental signaling molecule affecting tissue regionalization over short distances. This gene is highly constrained against loss-of-function variants (LOEUF 0.494), suggesting mutations would likely cause severe developmental disorders, though specific associated phenotypes have not yet been clearly established in humans. The inheritance pattern for WNT5B-related disorders remains to be determined as clinical cases are identified.

ResearchSummary from RefSeq, UniProt

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 94% and 80% amino acid identity to the mouse Wnt5b protein and the human WNT5A protein, respectively. Alternative splicing of this gene generates 2 transcript variants. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.49

LOEUF

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Mechanism

Some data sources returned errors (1)

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