MTERF4
Chr 2mitochondrial transcription termination factor 4
Also known as: MTERFD2
The protein regulates mitochondrial ribosome biogenesis and translation by binding to mitochondrial ribosomal RNAs and targeting the NSUN4 methyltransferase to the large ribosomal subunit. Mutations cause autosomal recessive combined oxidative phosphorylation deficiency with severe intellectual disability, growth retardation, and metabolic abnormalities. The gene shows low constraint against loss-of-function variants, suggesting haploinsufficiency is tolerated.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
397 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 93 | 0 | 93 |
Likely Pathogenic | 0 | 0 | 10 | 0 | 10 |
VUS | 0 | 207 | 17 | 0 | 224 |
Likely Benign | 0 | 13 | 1 | 6 | 20 |
Benign | 0 | 2 | 1 | 2 | 5 |
| Total | 0 | 222 | 122 | 8 | 352 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
MTERF4 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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