MGARP

Chr 4

mitochondria localized glutamic acid rich protein

Also known as: C4orf49, CESP-1, HUMMR, OSAP

NCBI Gene: 84709ENSG00000137463UniProt: Q8TDB4OMIM: 619684

Predicted to be involved in several processes, including axonal transport; negative regulation of dendrite development; and nervous system development. Located in mitochondrion. [provided by Alliance of Genome Resources, Jun 2026]

OMIMResearchGenerating clinical summary…
0
Active trials
6
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.89
LOEUF
—
Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.89LOEUF
pLI 0.000
Z-score -0.51
OE 1.25 (0.66–1.89)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.23Z-score
OE missense 0.94 (0.81–1.09)
124 obs / 131.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?1.25 (0.66–1.89)
0≤0.351.4
Missense OE?0.94 (0.81–1.09)
0≤0.61.4
Synonymous OE?1.04
0≤1.21.6
LoF obs/exp: 6 / 4.8Missense obs/exp: 124 / 131.5Syn Z: -0.23

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

MGARP · 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