GRPEL2

Chr 5

GrpE like 2, mitochondrial

Also known as: Mt-GrpE#2

NCBI Gene: 134266ENSG00000164284UniProt: Q8TAA5

Predicted to enable adenyl-nucleotide exchange factor activity and unfolded protein binding activity. Predicted to be involved in protein import into mitochondrial matrix. Located in mitochondrion. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
7
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.13
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?
1.13LOEUF
pLI 0.000
Z-score 1.26
OE 0.60 (0.34–1.13)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.36Z-score
OE missense 0.91 (0.78–1.06)
112 obs / 123.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.60 (0.34–1.13)
0≤0.351.4
Missense OE?0.91 (0.78–1.06)
0≤0.61.4
Synonymous OE?0.87
0≤1.21.6
LoF obs/exp: 7 / 11.7Missense obs/exp: 112 / 123.3Syn Z: 0.70

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

GRPEL2 · 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