MIEF2

Chr 17AR

mitochondrial elongation factor 2

Mitochondrial outer membrane protein involved in the regulation of mitochondrial organization (PubMed:29361167). It is required for mitochondrial fission and promotes the recruitment and association of the fission mediator dynamin-related protein 1 (DNM1L) to the mitochondrial surface independently of the mitochondrial fission FIS1 and MFF proteins. Regulates DNM1L GTPase activity

OMIMResearchGenerating clinical summary…
GOFmechanismARLOEUF 0.831 OMIM phenotype
Clinical SummaryMIEF2
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Gene-Disease Validity (ClinGen)
mitochondrial disease · ARLimited

Limited evidence — not for standalone diagnostic reporting

Population Constraint (gnomAD)
Low constraint (pLI 0.02) — loss-of-function variants are relatively tolerated in the population.
Some data sources returned errors (1)

ncbi: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.83LOEUF
pLI 0.016
Z-score 1.99
OE 0.40 (0.210.83)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.51Z-score
OE missense 0.92 (0.831.01)
269 obs / 293.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.40 (0.210.83)
00.351.4
Missense OE?0.92 (0.831.01)
00.61.4
Synonymous OE?0.94
01.21.6
LoF obs/exp: 5 / 12.7Missense obs/exp: 269 / 293.7Syn Z: 0.57

This gene — mechanism propensity

DN
0.5574th %ile
GOF
0.6833th %ile
LOF
0.2777th %ile

The highest-scoring mechanism for this gene is gain-of-function.

GOFprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

MIEF2 · 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.

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