MIEF2
Chr 17ARmitochondrial elongation factor 2
Also known as: COXPD49, D3B, MID49, SMCR7
The protein is a mitochondrial outer membrane protein that regulates mitochondrial organization by recruiting dynamin-related protein 1 (DNM1L) to promote mitochondrial fission. Mutations cause combined oxidative phosphorylation deficiency 49, which follows autosomal recessive inheritance. The gene is located within the Smith-Magenis syndrome region on chromosome 17.
Limited evidence — not for standalone diagnostic reporting
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
The highest-scoring mechanism for this gene is gain-of-function.
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.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools