MTX2: Metaxin 2 Gene
Mitochondrial import receptor and component of the SAM complex
Gene Information Card
| Symbol | MTX2 |
|---|---|
| Full Name | metaxin 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 2q31.1 |
| NCBI Gene ID | 10651 ncbi.nlm.nih.gov/gene/10651 |
| Ensembl ID | ENSG00000115970 |
| UniProt ID | O75431 |
| OMIM ID | 616603 |
| HGNC ID | 7502 |
| Aliases | MGC138499, MGC138500, metaxin-2 |
Description
MTX2 encodes metaxin 2, a component of the mitochondrial import receptor complex (SAM complex) that facilitates the import of beta-barrel proteins into the mitochondrial outer membrane. It interacts with MTX1 and SAMM50 to form the sorting and assembly machinery (SAM) complex, essential for mitochondrial protein biogenesis and cristae organization.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial disease with developmental delay and cardiomyopathy | Loss-of-function mutations in MTX2 impair mitochondrial protein import, leading to defective cristae morphology and respiratory chain dysfunction | ClinVar, PMID: 30581155 |
| Mandibuloacral dysplasia with type B lipodystrophy (MADB) | Biallelic MTX2 mutations disrupt SAM complex assembly, causing aberrant mitochondrial morphology and premature aging features | OMIM 616603, PMID: 30581155 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Liver | 9.8 | Medium |
| Skeletal Muscle | 8.3 | Medium |
| Brain | 6.1 | Low |
| Kidney | 7.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | Cervical carcinoma cell line |
| HEK293 | 13.8 | Embryonic kidney cells |
| HepG2 | 11.5 | Hepatocellular carcinoma |
| K562 | 9.1 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | Rare | Loss of start codon, likely loss of function |
| c.283C>T (p.Arg95*) | nonsense | Rare | Premature stop, loss of function |
| c.494G>A (p.Trp165*) | nonsense | Rare | Premature stop, loss of function |
Mutation functional classification
Loss of Function (LOF)
Biallelic loss-of-function mutations in MTX2 cause mandibuloacral dysplasia with type B lipodystrophy (MADB) and mitochondrial disease.
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)
| • mitochondrion (GO:0005739) | • mitochondrial outer membrane (GO:0005741) |
| • integral component of membrane (GO:0016021) | • protein import into mitochondrial outer membrane (GO:0045040) |
| • mitochondrion organization (GO:0007005) |
Pathways
• Mitochondrial protein import (SAM complex)
• Sorting and assembly machinery (SAM) complex
Protein Summary
Metaxin 2 is a 263-amino acid protein localized to the mitochondrial outer membrane. It forms a complex with metaxin 1 (MTX1) and SAMM50, functioning as a receptor for the import of beta-barrel proteins. The protein contains a single transmembrane domain and is highly conserved across eukaryotes. Defects in MTX2 lead to mitochondrial dysfunction and are associated with progeroid syndromes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MTX2 Knockout HEK293 Cell Line | EDJ-KQ7118 | Human | 10651 | Details Get a Quote |
| MTX2 Knockout HCT 116 Cell Line | EDJ-KQ31992 | Human | 10651 | Details Get a Quote |
| MTX2 Knockout HeLa Cell Line | EDJ-KQ31993 | Human | 10651 | Details Get a Quote |
| MTX2 Knockout A-549 Cell Line | EDJ-KQ63937 | Human | 10651 | Details Get a Quote |
