MTERF4

Chr 2

mitochondrial transcription termination factor 4

Also known as: MTERFD2

NCBI Gene: 130916 ENSG00000122085 UniProt: Q7Z6M4 OMIM: 615393

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.

OMIM ResearchSummary from RefSeq, UniProt

Enables RNA folding chaperone; protein-RNA adaptor activity; and rRNA binding activity. Involved in mitochondrial large ribosomal subunit assembly and rRNA processing. Located in mitochondrion. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Active trials

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Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.10

LOEUF

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Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.10LOEUF

pLI 0.000

Z-score 1.29

OE 0.63 (0.38–1.10)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.56Z-score

OE missense 0.89 (0.79–1.01)

188 obs / 210.9 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.63 (0.38–1.10)

0≤0.351.4

Missense OE?0.89 (0.79–1.01)

0≤0.61.4

Synonymous OE?1.06

0≤1.21.6

LoF obs/exp: 9 / 14.2Missense obs/exp: 188 / 210.9Syn Z: -0.43

Background carrier burden — how many people carry a rare variant somewhere in MTERF4?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 68

634 rare PASS variants

Rare truncating (LoF)

1 in 300

129 rare PASS variants

Rare synonymous (reference)

1 in 210

225 rare PASS variants

Rare missense and truncating variants are carried at similar rates in MTERF4; this gene does not show strong loss-of-function constraint by this measure. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 110	1 in 660
South Asian	~43k	1 in 78	1 in 420
Remaining (unassigned)	~30k	1 in 71	1 in 320
European (Finnish)	~27k	1 in 270	1 in 1,500
Admixed American	~22k	1 in 97	1 in 470
African / African American	~21k	1 in 69	1 in 430
East Asian	~20k	1 in 78	1 in 1,200
Ashkenazi Jewish	~13k	1 in 360	≈ 1 in 6,400
Middle Eastern	~2,884	1 in 64	none seen

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): All 4 coding exons well covered in gnomAD exomes and genomes.? see exons ↓