MTERF2
Mitochondrial Transcription Termination Factor 2
Gene Information Card
| Symbol | MTERF2 |
|---|---|
| Full Name | Mitochondrial Transcription Termination Factor 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q24.31 |
| NCBI Gene ID | 80298 ncbi.nlm.nih.gov/gene/80298 |
| Ensembl ID | ENSG00000111247 |
| UniProt ID | Q9H061 |
| OMIM ID | 614820 |
| HGNC ID | 24705 |
| Aliases | COXPD31, MTERFD2, MTERF domain containing 2 |
Description
MTERF2 encodes a member of the mitochondrial transcription termination factor (MTERF) family. The protein localizes to mitochondria and is involved in the termination of mitochondrial DNA transcription. It binds to specific sequences within the mitochondrial genome to regulate gene expression. Mutations in MTERF2 are associated with mitochondrial complex IV deficiency and combined oxidative phosphorylation deficiency.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Combined oxidative phosphorylation deficiency 31 (COXPD31) | Loss-of-function mutations impair mitochondrial transcription termination, leading to reduced complex IV activity and ATP production. | ClinVar, OMIM |
| Mitochondrial complex IV deficiency | Defective MTERF2 disrupts mitochondrial gene expression, causing cytochrome c oxidase deficiency. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal muscle | 10.8 | Medium |
| Liver | 6.2 | Low |
| Brain | 5.1 | Low |
| Kidney | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 8.9 | Cervical adenocarcinoma |
| HEK293 | 7.4 | Embryonic kidney |
| HepG2 | 5.6 | Hepatocellular carcinoma |
| K562 | 4.1 | Leukemia |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of protein expression; associated with COXPD31 |
| c.424C>T (p.Arg142*) | Nonsense | Rare | Premature truncation; loss of function |
| c.617G>A (p.Arg206Gln) | Missense | Rare | Impaired DNA binding; reduced transcription termination |
Mutation functional classification
Loss of Function (LOF)
Nonsense and start-loss mutations lead to absent or truncated protein, impairing mitochondrial transcription termination.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • Mitochondrial transcription termination (GO:0006393) | • DNA binding (GO:0003677) |
| • Mitochondrion (GO:0005739) | • Regulation of mitochondrial transcription (GO:0042775) |
Pathways
• Mitochondrial transcription termination (Reactome: R-HSA-166200)
• Mitochondrial gene expression (Reactome: R-HSA-5368287)
Protein Summary
MTERF2 is a 385-amino acid mitochondrial protein that binds to specific DNA sequences in the mitochondrial genome to terminate transcription. It contains three MTERF motifs and is essential for proper expression of mitochondrial genes, particularly those encoding subunits of complex IV. Loss of MTERF2 function leads to mitochondrial respiratory chain defects.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MTERF2 Knockout HEK293 Cell Line | EDJ-KQ9514 | Human | 80298 | Details Get a Quote |
| MTERF2 Knockout A-549 Cell Line | EDJ-KQ35011 | Human | 80298 | Details Get a Quote |
| MTERF2 Knockout HCT 116 Cell Line | EDJ-KQ36266 | Human | 80298 | Details Get a Quote |
| MTERF2 Knockout HeLa Cell Line | EDJ-KQ36267 | Human | 80298 | Details Get a Quote |
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