PRG2

Chr 11

proteoglycan 2, pro eosinophil major basic protein

Also known as: BMPG, MBP, MBP1, proMBP

The protein encoded by this gene is the predominant constituent of the crystalline core of the eosinophil granule. High levels of the proform of this protein are also present in placenta and pregnancy serum, where it exists as a complex with several other proteins including pregnancy-associated plasma protein A (PAPPA), angiotensinogen (AGT), and C3dg. This protein may be involved in antiparasitic defense mechanisms as a cytotoxin and helminthotoxin, and in immune hypersensitivity reactions. The encoded protein contains a peptide that displays potent antimicrobial activity against Gram-positive bacteria, Gram-negative bacteria, and fungi. It is directly implicated in epithelial cell damage, exfoliation, and bronchospasm in allergic diseases. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2014]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtAnterior segment dysgenesis 7
0
Active trials
11
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.27
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.27LOEUF
pLI 0.000
Z-score 0.97
OE 0.68 (0.38–1.27)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.31Z-score
OE missense 0.92 (0.79–1.07)
115 obs / 124.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.68 (0.38–1.27)
0≤0.351.4
Missense OE?0.92 (0.79–1.07)
0≤0.61.4
Synonymous OE?1.00
0≤1.21.6
LoF obs/exp: 7 / 10.4Missense obs/exp: 115 / 124.9Syn Z: 0.02

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

PRG2 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →