MTFR2: Mitochondrial Fission Regulator 2
A key regulator of mitochondrial dynamics and potential biomarker in cancer
Gene Information Card
| Symbol | MTFR2 |
|---|---|
| Full Name | Mitochondrial Fission Regulator 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 6q23.3 |
| NCBI Gene ID | 113115 ncbi.nlm.nih.gov/gene/113115 |
| Ensembl ID | ENSG00000112210 |
| UniProt ID | Q8N4N8 |
| OMIM ID | 615395 |
| HGNC ID | 26304 |
| Aliases | C6orf203, DUFD1, FAM54B |
Description
MTFR2 (Mitochondrial Fission Regulator 2) is a protein-coding gene involved in mitochondrial dynamics, specifically regulating mitochondrial fission. It is located on chromosome 6q23.3 and encodes a protein that localizes to mitochondria. MTFR2 is associated with various cancers and may play a role in cellular proliferation and apoptosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression promotes mitochondrial fission and cell proliferation | PMID: 31570789 |
| Colorectal cancer | Upregulation associated with poor prognosis and metastasis | PMID: 32015556 |
| Hepatocellular carcinoma | High expression linked to tumor progression and immune infiltration | PMID: 33020297 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Heart | 8.3 | Medium |
| Liver | 4.1 | Low |
| Brain | 2.0 | Low |
| Lung | 3.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | High expression |
| HeLa | 10.8 | Moderate expression |
| MCF7 | 7.5 | Moderate expression |
| HepG2 | 5.0 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.437C>T | Missense | 0.01% | p.Pro146Leu; uncertain significance |
| c.562G>A | Missense | 0.005% | p.Gly188Arg; uncertain significance |
| c.784_785insA | Frameshift | <0.001% | Loss of function; rare |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.784_785insA) are predicted to cause loss of function by truncating the protein.
Gain of Function (GOF)
No gain-of-function mutations have been reported in MTFR2.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for MTFR2.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrial fission (GO:0000266) | • mitochondrion (GO:0005739) |
| • protein binding (GO:0005515) |
Pathways
• Mitochondrial dynamics
• Apoptosis
Protein Summary
The MTFR2 protein is a mitochondrial membrane-associated regulator of fission. It contains a DUF domain of unknown function and is involved in maintaining mitochondrial morphology. Overexpression in cancer cells promotes mitochondrial fragmentation and enhances cell growth.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MTFR2 Knockout HEK293 Cell Line | EDJ-KQ7408 | Human | 113115 | Details Get a Quote |
| MTFR2 Knockout A-549 Cell Line | EDJ-KQ32576 | Human | 113115 | Details Get a Quote |
| MTFR2 Knockout HCT 116 Cell Line | EDJ-KQ32577 | Human | 113115 | Details Get a Quote |
| MTFR2 Knockout HeLa Cell Line | EDJ-KQ32578 | Human | 113115 | Details Get a Quote |
