GP2

Chr 16

glycoprotein 2

ENSG00000169347 UniProt: P55259 OMIM: 602977

GP2 encodes a GPI-anchored membrane protein that functions as an intestinal M-cell receptor for type I-piliated bacteria, binding pathogens like E. coli and S. typhimurium to facilitate mucosal immune responses. Mutations cause autosomal recessive early-onset inflammatory bowel disease, typically presenting in infancy or early childhood. The gene shows very low constraint against loss-of-function variants (high LOEUF score), consistent with its recessive inheritance pattern.

OMIM ResearchSummary from RefSeq, UniProt

Functions as an intestinal M-cell transcytotic receptor specific for type-I-piliated bacteria that participates in the mucosal immune response toward these bacteria. At the apical membrane of M-cells it binds fimH, a protein of the bacteria type I pilus tip. Internalizes bound bacteria, like E.coli and S.typhimurium, from the lumen of the intestine and delivers them, through M-cells, to the underlying organized lymphoid follicles where they are captured by antigen-presenting dendritic cells to elicit a mucosal immune response

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.42

LOEUF

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Mechanism

Some data sources returned errors (1)