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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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MTERF3
mitochondrial transcription termination factor 3
Chromosome 8 · 8q22.1
NCBI Gene: 51001Ensembl: ENSG00000156469.10HGNC: HGNC:24258UniProt: E5RIK9
48PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
transcription cis-regulatory region bindingmitochondrial matrixprotein bindingmitochondrionsmoking initiationhepatocellular carcinomabreast cancercolorectal carcinoma
✦AI Summary

MTERF3 (mitochondrial transcription termination factor 3) is a negative regulator of mammalian mitochondrial DNA (mtDNA) transcription that plays critical roles in mitochondrial bioenergetics and cellular homeostasis. MTERF3 binds to mtDNA promoter regions and represses transcription initiation on both mtDNA strands, thereby regulating the expression of oxidative phosphorylation (OXPHOS) complexes and maintaining appropriate levels of mitochondrial transcripts 1. The protein is essential for normal mitochondrial function, maintaining 16S rRNA levels and facilitating mitochondrial ribosome assembly through regulation of 39S ribosomal subunit biogenesis. MTERF3 dysregulation is implicated in multiple disease contexts. In hyperglycemic stress, elevated MTERF3 expression via the NR2F2 pathway suppresses OXPHOS and impairs skin integrity and collagen biosynthesis 2. Loss-of-function MTERF3 mutations cause developmental delay, intermittent hypoglycemia, and metabolic acidosis through impaired mitochondrial respiration and reduced OXPHOS complex assembly 3. In cancer, MTERF3 expression patterns vary by tumor type: overexpression correlates with poor prognosis in hepatocellular carcinoma and lung adenocarcinoma by promoting cell proliferation, while decreased expression associates with poor outcomes in thyroid carcinoma 4, 5, 6. Additionally, MTERF3 contributes to mitochondrial dysfunction in Parkinson's disease models and modulates mitophagy in chr8 obstructive pulmonary disease 7, 8.

Sources cited
1
MTERF3 is a negative regulator of mtDNA transcription initiation; binds mtDNA promoter region and is essential for normal mitochondrial function
PMID: 17662942
2
Glucose stress elevates MTERF3 expression via NR2F2, suppressing OXPHOS and impairing collagen biosynthesis in skin fibroblasts
PMID: 40174478
3
MTERF3 mutations cause developmental delay, hypoglycemia, and metabolic acidosis through impaired mitochondrial respiration and reduced OXPHOS complex expression
PMID: 40543543
4
Decreased MTERF3 expression in thyroid carcinoma associates with poor prognosis and enhanced cancer stemness
PMID: 38156906
5
MTERF3 overexpression in hepatocellular carcinoma promotes cell proliferation; knockdown induces mitochondrial dysfunction and ROS-mediated p38 MAPK activation
PMID: 38177713
6
MTERF3 knockdown in lung adenocarcinoma suppresses proliferation, enhances mitophagy, and increases mitochondrial superoxide production
PMID: 38397465
7
MTERF3 expression is reduced in MPP+-induced cellular models of Parkinson's disease; plays a protective role against mitochondrial dysfunction
PMID: 35904214
8
MTERF3 is identified as a signature gene in chronic obstructive pulmonary disease; MTERF3 knockdown promotes mitophagy in cigarette smoke-exposed bronchial epithelial cells
PMID: 39950319
Disease Associationsⓘ20
smoking initiationOpen Targets
0.12Weak
hepatocellular carcinomaOpen Targets
0.07Suggestive
breast cancerOpen Targets
0.07Suggestive
colorectal carcinomaOpen Targets
0.07Suggestive
mouth diseaseOpen Targets
0.06Suggestive
neoplasmOpen Targets
0.05Suggestive
cholelithiasisOpen Targets
0.03Suggestive
brain gliomaOpen Targets
0.03Suggestive
atrial fibrillationOpen Targets
0.02Suggestive
HypercholesterolemiaOpen Targets
0.02Suggestive
osteoarthritis, hipOpen Targets
0.02Suggestive
total hip arthroplastyOpen Targets
0.02Suggestive
corneal edemaOpen Targets
0.02Suggestive
colorectal cancerOpen Targets
0.02Suggestive
lung adenocarcinomaOpen Targets
0.02Suggestive
HerniaOpen Targets
0.02Suggestive
Inguinal herniaOpen Targets
0.02Suggestive
cancerOpen Targets
0.01Suggestive
breast carcinomaOpen Targets
0.01Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
FASTKD2Protein interaction94%TFB2MProtein interaction86%POLRMTProtein interaction86%MTERF1Protein interaction86%TRUB2Protein interaction86%MTERF2Protein interaction85%
Tissue Expression6 tissues
Heart
100%
Liver
73%
Ovary
47%
Lung
44%
Bone Marrow
37%
Brain
33%
Gene Interaction Network
Click a node to explore
MTERF3FASTKD2TFB2MPOLRMTMTERF1TRUB2MTERF2
PROTEIN STRUCTURE
Preparing viewer…
PDB3M66 · 1.60 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.21LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.92 [0.71–1.21]
RankingsWhere MTERF3 stands among ~20K protein-coding genes
  • #9,102of 20,598
    Most Researched48
  • #12,742of 17,882
    Most Constrained (LOEUF)1.21
Genes detectedMTERF3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Repression of oxidative phosphorylation by NR2F2, MTERF3 and GDF15 in human skin under high-glucose stress.
PMID: 40174478
Redox Biol · 2025
1.00
2
Prognostic Role of Mitochondrial Transcription Termination Factor 3 in Thyroid Carcinoma.
PMID: 38156906
Genet Test Mol Biomarkers · 2023
0.90
3
Suppressing MTERF3 inhibits proliferation of human hepatocellular carcinoma via ROS-mediated p38 MAPK activation.
PMID: 38177713
Commun Biol · 2024
0.80
4
Novel mutations in MTERF3: First report of a new genetic cause in two Chinese patients with developmental delay, intermittent hypoglycemia and metabolic acidosis.
PMID: 40543543
Mitochondrion · 2025
0.70
5
Identification and validation of biomarkers related to mitophagy in chronic obstructive pulmonary disease.
PMID: 39950319
Mol Med Rep · 2025
0.60