ERMP1

Chr 9

endoplasmic reticulum metallopeptidase 1

Also known as: FXNA, KIAA1815, bA207C16.3

NCBI Gene: 79956ENSG00000099219UniProt: Q7Z2K6

Predicted to enable metal ion binding activity and metalloexopeptidase activity. Involved in cellular response to oxidative stress. Acts upstream of or within endoplasmic reticulum unfolded protein response. Located in membrane. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
6
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.89
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.89LOEUF
pLI 0.000
Z-score 2.12
OE 0.63 (0.46–0.89)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
-0.84Z-score
OE missense 1.11 (1.03–1.19)
519 obs / 467.8 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.63 (0.46–0.89)
0≤0.351.4
Missense OE?1.11 (1.03–1.19)
0≤0.61.4
Synonymous OE?1.25
0≤1.21.6
LoF obs/exp: 25 / 39.4Missense obs/exp: 519 / 467.8Syn Z: -2.59

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ERMP1 · 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