GP2

Chr 16

glycoprotein 2

Also known as: ZAP75

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.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 1.42
Clinical SummaryGP2
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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Clinical Trials
2 active or recruiting trials — potential therapeutic options may be available

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
1.42LOEUF
pLI 0.000
Z-score -0.25
OE 1.05 (0.791.42)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.70Z-score
OE missense 0.89 (0.800.98)
274 obs / 308.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE1.05 (0.791.42)
00.351.4
Missense OE0.89 (0.800.98)
00.61.4
Synonymous OE1.14
01.21.6
LoF obs/exp: 31 / 29.5Missense obs/exp: 274 / 308.4Syn Z: -1.23

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

GP2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold
Clinical Literature
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