MIEF2
Mitochondrial Elongation Factor 2
Gene Information Card
| Symbol | MIEF2 |
|---|---|
| Full Name | Mitochondrial Elongation Factor 2 |
| Gene Type | Protein-coding |
| Chromosomal Location | 17p11.2 |
| NCBI Gene ID | 125170 ncbi.nlm.nih.gov/gene/125170 |
| Ensembl ID | ENSG00000108556 |
| UniProt ID | Q96C03 |
| OMIM ID | 615494 |
| HGNC ID | 28498 |
| Aliases | SMCR7L, SMCR7L1, MID49 |
Description
MIEF2 (mitochondrial elongation factor 2) encodes a protein that localizes to the mitochondrial outer membrane and regulates mitochondrial fission. It recruits the dynamin-related protein DNM1L/DRP1 to the mitochondrial surface, promoting mitochondrial elongation. MIEF2 is also known as SMCR7L and MID49.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Smith-Magenis Syndrome (SMS) | Deletion of 17p11.2 including MIEF2 may contribute to neurodevelopmental features | OMIM #182290 |
| Mitochondrial Disorders | Altered MIEF2 expression disrupts mitochondrial dynamics, potentially linked to metabolic and neurodegenerative conditions | PubMed studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal Muscle | 10.3 | Medium |
| Liver | 6.8 | Low |
| Brain | 5.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 8.1 | Moderate expression |
| HEK293 | 7.4 | Moderate expression |
| SH-SY5Y | 6.0 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Unknown |
| c.100C>T | Nonsense | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations leading to truncated protein and impaired mitochondrial fission regulation.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrion (GO:0005739) | • integral component of membrane (GO:0016021) |
| • mitochondrial fission (GO:0043653) | • protein binding (GO:0005515) |
Pathways
• Mitochondrial dynamics (Reactome: R-HSA-5205647)
• DRP1-mediated mitochondrial fission
Protein Summary
MIEF2 is a 49 kDa mitochondrial outer membrane protein that acts as a receptor for DRP1, regulating mitochondrial fission. It contains a transmembrane domain and a coiled-coil region. The protein is involved in maintaining mitochondrial morphology and function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MIEF2 Knockout HEK293 Cell Line | EDJ-KQ8761 | Human | 125170 | Details Get a Quote |
| MIEF2 Knockout A-549 Cell Line | EDJ-KQ35020 | Human | 125170 | Details Get a Quote |
| MIEF2 Knockout HCT 116 Cell Line | EDJ-KQ35021 | Human | 125170 | Details Get a Quote |
| MIEF2 Knockout HeLa Cell Line | EDJ-KQ35022 | Human | 125170 | Details Get a Quote |
