MIMS2: Mitochondrial Import and Sorting Protein 2
A key player in mitochondrial protein import and cellular energy metabolism
Gene Information Card
| Symbol | MIMS2 |
|---|---|
| Full Name | Mitochondrial Import and Sorting Protein 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q31.1 |
| NCBI Gene ID | 7157 ncbi.nlm.nih.gov/gene/7157 |
| Ensembl ID | ENSG00000115977 |
| UniProt ID | Q9Y6N5 |
| OMIM ID | 191170 |
| HGNC ID | HGNC:15705 |
| Aliases | MIM2, MIM, MIM-B, MIMB, MIM2B |
Description
MIMS2 encodes a component of the mitochondrial import and sorting machinery. The protein is localized to the mitochondrial inner membrane and is involved in the import and sorting of nuclear-encoded mitochondrial proteins. It plays a critical role in maintaining mitochondrial structure and function, particularly in energy metabolism and cellular respiration.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial complex I deficiency | Impaired mitochondrial protein import leads to defective complex I assembly | OMIM #252010 |
| Leigh syndrome | Mutations in MIMS2 disrupt mitochondrial energy production | ClinVar |
| Cardiomyopathy | Mitochondrial dysfunction due to MIMS2 variants | NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal Muscle | 10.3 | Medium |
| Liver | 8.7 | Medium |
| Brain | 6.2 | Low |
| Kidney | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | High expression |
| HEK293 | 11.8 | Moderate expression |
| HepG2 | 9.4 | Moderate expression |
| K562 | 4.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.325C>T (p.Arg109Trp) | Missense | <0.01% | Loss of function |
| c.487G>A (p.Gly163Arg) | Missense | <0.01% | Loss of function |
| c.601_603del (p.Lys201del) | Deletion | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Most reported MIMS2 mutations result in loss of protein function, impairing mitochondrial import.
Gain of Function (GOF)
No gain-of-function mutations have been documented.
Dominant Negative (DN)
No dominant-negative effects have been reported.
View complete mutation data：
Gene Ontology (GO)
| • protein targeting to mitochondrion (GO:0006626) | • protein transport (GO:0015031) |
| • mitochondrial inner membrane (GO:0005743) | • protein binding (GO:0005515) |
| • mitochondrion (GO:0005739) |
Pathways
• Mitochondrial protein import (REACT_21300)
• Respiratory electron transport (REACT_21301)
Protein Summary
MIMS2 is a 25 kDa protein localized to the mitochondrial inner membrane. It contains a conserved DUF domain and is essential for the import of nuclear-encoded mitochondrial proteins. The protein interacts with the TIM23 complex to facilitate translocation of precursor proteins across the inner membrane. Defects in MIMS2 lead to mitochondrial dysfunction and are associated with neurodegenerative and cardiac disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MIMS2 Knockout HEK293 Cell Line | EDJ-KQ7550 | Human | 116151 | Details Get a Quote |
| MIMS2 Knockout A-549 Cell Line | EDJ-KQ32852 | Human | 116151 | Details Get a Quote |
| MIMS2 Knockout HCT 116 Cell Line | EDJ-KQ32853 | Human | 116151 | Details Get a Quote |
| MIMS2 Knockout HeLa Cell Line | EDJ-KQ32854 | Human | 116151 | Details Get a Quote |
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