FAM3C

Chr 7

FAM3 metabolism regulating signaling molecule C

Also known as: GS3786, ILEI

NCBI Gene: 10447 ENSG00000196937 UniProt: Q92520 OMIM: 608618

The protein is secreted and contains a GG domain, and may be involved in retinal laminar formation and promotion of epithelial to mesenchymal transition. Based on the provided information, no specific diseases have been definitively linked to FAM3C mutations, though the predicted dominant negative mechanism suggests potential pathogenicity. The relatively low pLI score (0.097) indicates this gene is more tolerant to loss-of-function variants than highly constrained disease genes.

OMIM ResearchSummary from RefSeq, UniProt, Mechanism

This gene is a member of the family with sequence similarity 3 (FAM3) family and encodes a secreted protein with a GG domain. A change in expression of this protein has been noted in pancreatic cancer-derived cells. [provided by RefSeq, Mar 2010]

OMIM 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

0.69

LOEUF

Mechanism· predicted