MMRN2

Chr 10

multimerin 2

Also known as: EMILIN-3, EMILIN3, ENDOGLYX-1

NCBI Gene: 79812ENSG00000173269UniProt: Q9H8L6OMIM: 608925

This gene encodes a protein belonging to the member of elastin microfibril interface-located (EMILIN) protein family. This family member is an extracellular matrix glycoprotein that can interfere with tumor angiogenesis and growth. It serves as a transforming growth factor beta antagonist and can interfere with the VEGF-A/VEGFR2 pathway. A related pseudogene has been identified on chromosome 6. [provided by RefSeq, Aug 2012]

OMIMResearchGenerating clinical summary…
0
Active trials
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Pubs (1 yr)
—
P/LP submissions
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P/LP missense
0.97
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.97LOEUF
pLI 0.000
Z-score 1.70
OE 0.67 (0.48–0.97)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.05Z-score
OE missense 0.87 (0.81–0.94)
489 obs / 558.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.67 (0.48–0.97)
0≤0.351.4
Missense OE?0.87 (0.81–0.94)
0≤0.61.4
Synonymous OE?0.82
0≤1.21.6
LoF obs/exp: 21 / 31.2Missense obs/exp: 489 / 558.9Syn Z: 2.20

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

MMRN2 · 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

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients