MTX2 Gene Summary [Human]
The protein encoded by this gene is highly similar to the metaxin 2 protein from mouse, which has been shown to interact with the mitochondrial membrane protein metaxin 1. Because of this similarity, it is thought that the encoded protein is peripherally associated with the cytosolic face of the outer mitochondrial membrane, and that it is involved in the import of proteins into the mitochondrion. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 7. [provided by RefSeq, Jun 2009]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | MTX2 |
| Official Name | metaxin 2 [Source:HGNC Symbol;Acc:HGNC:7506] |
| Ensembl ID | ENSG00000128654 |
| Bio databases IDs | |
| Aliases | metaxin 2 |
| Synonyms | 1500012G02Rik, MDPS, METAXIN 2 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human MTX2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Outer mitochondrial membrane transport complex protein
- Glutathione S-transferase, C-terminal domain
- C-terminal, alpha helical domain of the Glutathione S-transferase family
- Glutathione S-transferase N-terminal domain
- Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold
- protein binding
- transporter
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- ischemic stroke
- anemia
- liver disease
- microalbuminuria
- hypertension
- hyperplasia
- mandibuloacral dysplasia progeroid syndrome
- hypoalbuminemia
- edema
- alopecia
role in cell
- production in
- expression in
- assembly in
- morphology
- function
- fusion
- function in
- adherence
- endocytic capacity
- migratory capacity
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Mitochondria
- mitochondrial outer membrane
- nucleoli
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MTX2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- protein import into mitochondrial outer membrane
- mitochondrial transport
- inner mitochondrial membrane organization
- mitochondrion organization
Cellular Component
Where in the cell the gene product is active
- cytoplasm
- mitochondrion
- mitochondrial outer membrane
- nucleolus
- mitochondrial sorting and assembly machinery complex
Molecular Function
What the gene product does at the molecular level
- protein binding