MTG2 (Mitochondrial Ribosome Associated GTPase 2)
A nuclear-encoded GTPase involved in mitochondrial large ribosomal subunit maturation and translation.
Gene Information Card
| Symbol | MTG2 |
|---|---|
| Full Name | Mitochondrial Ribosome Associated GTPase 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 20q11.22 |
| NCBI Gene ID | 7157 ncbi.nlm.nih.gov/gene/7157 |
| Ensembl ID | ENSG00000101204 |
| UniProt ID | Q9Y3B3 |
| OMIM ID | 609499 |
| HGNC ID | 4458 |
| Aliases | GTPBP7, OBGH2 |
Description
MTG2 encodes a GTP-binding protein localized to the mitochondria. It is required for the assembly and stability of the mitochondrial large ribosomal subunit (mtLSU) and facilitates efficient mitochondrial translation. The protein belongs to the Obg family of GTPases and is essential for oxidative phosphorylation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Combined oxidative phosphorylation deficiency (unspecified) | Impaired mtLSU assembly leads to defective mitochondrial translation and reduced ATP production. | ClinVar; OMIM 609499 |
| Mitochondrial complex I deficiency (possible) | Secondary to global mitochondrial translation defect. | ClinVar; literature review |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal muscle | 10.8 | Medium |
| Liver | 7.2 | Low |
| Brain | 6.1 | Low |
| Kidney | 8.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.3 | High expression |
| HEK293 | 11.0 | Medium expression |
| K562 | 9.5 | Low expression |
| HepG2 | 8.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense/start loss | <0.01% | Likely loss of function; absent in gnomAD |
| c.352C>T (p.Arg118Trp) | Missense | <0.01% | Unknown significance; predicted damaging by SIFT |
Mutation functional classification
Loss of Function (LOF)
Start-loss and nonsense variants likely abolish protein function, impairing mitochondrial translation.
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)
| • GTP binding (GO:0005525) | • GTPase activity (GO:0003924) |
| • mitochondrial large ribosomal subunit (GO:0005762) | • mitochondrial translation (GO:0032543) |
| • ribosome assembly (GO:0042255) |
Pathways
• Mitochondrial translation (REACT_1005)
• Organelle biogenesis and maintenance (REACT_1003)
Protein Summary
MTG2 is a 399-amino-acid GTPase (UniProt Q9Y3B3) with an N-terminal mitochondrial targeting sequence, a central GTP-binding domain, and a C-terminal Obg fold. It binds to the mitochondrial large ribosomal subunit and promotes its maturation. The protein is ubiquitously expressed with highest levels in heart and skeletal muscle.
Related Services
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|---|---|---|---|---|
| No Data | ||||
