MTERF3

Chr 8

mitochondrial transcription termination factor 3

Also known as: CGI-12, MTERFD1

NCBI Gene: 51001ENSG00000156469UniProt: Q96E29

Enables transcription cis-regulatory region binding activity. Involved in negative regulation of DNA-templated transcription. Located in cytosol and mitochondrial matrix. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
7
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.28
LOEUF
Multiple*
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?
1.28LOEUF
pLI 0.000
Z-score 0.70
OE 0.82 (0.54–1.28)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.12Z-score
OE missense 1.02 (0.91–1.15)
215 obs / 210.2 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.82 (0.54–1.28)
0≤0.351.4
Missense OE?1.02 (0.91–1.15)
0≤0.61.4
Synonymous OE?0.91
0≤1.21.6
LoF obs/exp: 14 / 17.1Missense obs/exp: 215 / 210.2Syn Z: 0.63

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

MTERF3 · 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