MRPL2: Mitochondrial Ribosomal Protein L2
A core component of the mitochondrial large ribosomal subunit essential for intra-mitochondrial protein synthesis
Gene Information Card
| Symbol | MRPL2 |
|---|---|
| Full Name | Mitochondrial Ribosomal Protein L2 |
| Gene Type | Protein coding |
| Chromosomal Location | 6p21.1 |
| NCBI Gene ID | 51073 ncbi.nlm.nih.gov/gene/51073 |
| Ensembl ID | ENSG00000111817 |
| UniProt ID | Q5T653 |
| OMIM ID | 611844 |
| HGNC ID | 14484 |
| Aliases | MRP-L2, L2mt, COXPD38 |
Description
MRPL2 encodes a 39S subunit protein of the mitochondrial ribosome. This protein is a component of the large ribosomal subunit (mt-LSU) and is essential for mitochondrial translation. It is one of several mitochondrial ribosomal proteins that are encoded by the nuclear genome and imported into the mitochondria. Mutations in MRPL2 have been associated with combined oxidative phosphorylation deficiency type 38 (COXPD38), a disorder characterized by mitochondrial dysfunction.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Combined Oxidative Phosphorylation Deficiency 38 (COXPD38) | Loss-of-function mutations impair mitochondrial ribosome assembly, reducing translation of mtDNA-encoded OXPHOS subunits. | ClinVar, OMIM #611844 |
| Mitochondrial Complex I Deficiency | Secondary deficiency due to impaired translation of mtDNA-encoded complex I subunits. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal Muscle | 10.8 | Medium |
| Liver | 9.2 | Medium |
| Kidney | 8.7 | Medium |
| Brain | 7.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.3 | High expression |
| HEK293 | 12.1 | High expression |
| HepG2 | 10.5 | Medium expression |
| K562 | 8.9 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.424C>T (p.Arg142Trp) | Missense | Rare | Loss of function; reduced mitochondrial translation |
| c.545G>A (p.Arg182Gln) | Missense | Rare | Loss of function; impaired ribosome assembly |
| c.1A>G (p.Met1Val) | Start loss | Very rare | Complete loss of protein |
Mutation functional classification
Loss of Function (LOF)
Missense and start-loss mutations reduce or abolish MRPL2 function, leading to defective mitochondrial translation and OXPHOS deficiency.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported; disease is recessive.
View complete mutation data：
Gene Ontology (GO)
| • structural constituent of ribosome (GO:0003735) | • mitochondrial large ribosomal subunit (GO:0005763) |
| • mitochondrial translation (GO:0032543) | • mitochondrion (GO:0005739) |
Pathways
• Mitochondrial translation (Reactome: R-HSA-5368287)
• Organelle biogenesis and maintenance (Reactome: R-HSA-1852241)
Protein Summary
MRPL2 is a 305-amino-acid protein (UniProt Q5T653) that localizes to the mitochondrial matrix. It is a core component of the mitochondrial large ribosomal subunit (mt-LSU) and directly participates in the decoding of mitochondrial mRNAs. The protein contains a conserved ribosomal L2 domain and is essential for the structural integrity and function of the mitochondrial ribosome. Defects in MRPL2 lead to impaired synthesis of 13 mtDNA-encoded OXPHOS subunits, resulting in mitochondrial respiratory chain deficiencies.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MRPL2 Knockout HEK293 Cell Line | EDJ-KQ10184 | Human | 51069 | Details Get a Quote |
| MRPL2 Knockout A-549 Cell Line | EDJ-KQ38607 | Human | 51069 | Details Get a Quote |
| MRPL2 Knockout HCT 116 Cell Line | EDJ-KQ38609 | Human | 51069 | Details Get a Quote |
| MRPL2 Knockout HeLa Cell Line | EDJ-KQ38610 | Human | 51069 | Details Get a Quote |
| MRPL23 Knockout HEK293 Cell Line | EDJ-KQ50579 | Human | 6150 | Details Get a Quote |
| MRPL24 Knockout HEK293 Cell Line | EDJ-KQ51682 | Human | 79590 | Details Get a Quote |
| MRPL23 Knockout HeLa Cell Line | EDJ-KQ54347 | Human | 6150 | Details Get a Quote |
| MRPL24 Knockout HeLa Cell Line | EDJ-KQ57187 | Human | 79590 | Details Get a Quote |
| MRPL23 Knockout A-549 Cell Line | EDJ-KQ62843 | Human | 6150 | Details Get a Quote |
| MRPL24 Knockout A-549 Cell Line | EDJ-KQ65699 | Human | 79590 | Details Get a Quote |
| MRPL23 Knockout HCT 116 Cell Line | EDJ-KQ71309 | Human | 6150 | Details Get a Quote |
| MRPL24 Knockout HCT 116 Cell Line | EDJ-KQ74119 | Human | 79590 | Details Get a Quote |
