WNT2

Chr 7

Wnt family member 2

Also known as: INT1L1, IRP

NCBI Gene: 7472 ENSG00000105989 UniProt: P09544

WNT2 encodes a secreted signaling protein that functions as a ligand for frizzled receptors in the canonical Wnt signaling pathway and plays important roles in embryonic lung and brain development, including regulation of dopaminergic neuron proliferation. Pathogenic variants cause developmental abnormalities affecting multiple organ systems. The gene shows tolerance to loss-of-function variants (low pLI score), suggesting that developmental phenotypes may involve complex mechanisms.

ResearchSummary from RefSeq, UniProt

This gene is a member of the WNT gene family. 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. Alternatively spliced transcript variants have been identified for this gene. [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

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Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.69

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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