MTERF4
Mitochondrial Transcription Termination Factor 4
Gene Information Card
| Symbol | MTERF4 |
|---|---|
| Full Name | Mitochondrial Transcription Termination Factor 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q37.3 |
| NCBI Gene ID | 130916 ncbi.nlm.nih.gov/gene/130916 |
| Ensembl ID | ENSG00000162910 |
| UniProt ID | Q96ES7 |
| OMIM ID | 611033 |
| HGNC ID | 28817 |
| Aliases | MTERF domain containing 4, FLJ12443 |
Description
MTERF4 encodes a member of the mitochondrial transcription termination factor (MTERF) family. The protein localizes to mitochondria and is involved in the termination of mitochondrial transcription. It plays a role in regulating mitochondrial gene expression and is essential for normal mitochondrial function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial respiratory chain disorders | Impaired transcription termination leads to defective mitochondrial gene expression and energy production | ClinVar, OMIM |
| Leigh syndrome | Disruption of mitochondrial transcription may contribute to neurodegeneration | ClinVar |
| Mitochondrial encephalopathy | Altered MTERF4 function affects mitochondrial RNA processing | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Liver | 8.3 | Low |
| Brain | 6.7 | Low |
| Skeletal Muscle | 10.1 | Medium |
| Kidney | 7.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 9.2 | Cervical cancer cell line |
| HEK293 | 8.5 | Embryonic kidney cell line |
| HepG2 | 7.8 | Hepatocellular carcinoma cell line |
| K562 | 6.4 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Potential loss of function |
| c.245C>T | Nonsense | <0.01% | Premature truncation |
| c.367G>A | Missense | <0.01% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations likely lead to loss of MTERF4 function, 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:0006392) | • Mitochondrion (GO:0005739) |
| • DNA binding (GO:0003677) | • RNA binding (GO:0003723) |
Pathways
• Mitochondrial transcription termination
• Mitochondrial gene expression
Protein Summary
MTERF4 is a 362-amino acid protein that contains an MTERF domain. It binds to mitochondrial DNA and RNA, facilitating transcription termination. The protein is essential for proper mitochondrial function and is expressed in various tissues, with highest levels in heart and skeletal muscle.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MTERF4 Knockout HEK293 Cell Line | EDJ-KQ9256 | Human | 130916 | Details Get a Quote |
| MTERF4 Knockout A-549 Cell Line | EDJ-KQ35857 | Human | 130916 | Details Get a Quote |
| MTERF4 Knockout HCT 116 Cell Line | EDJ-KQ35858 | Human | 130916 | Details Get a Quote |
| MTERF4 Knockout HeLa Cell Line | EDJ-KQ35859 | Human | 130916 | Details Get a Quote |
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