MRPS18B
Mitochondrial Ribosomal Protein S18B
Gene Information Card
| Symbol | MRPS18B |
|---|---|
| Full Name | Mitochondrial Ribosomal Protein S18B |
| Gene Type | Protein coding |
| Chromosomal Location | 6p21.33 |
| NCBI Gene ID | 28973 ncbi.nlm.nih.gov/gene/28973 |
| Ensembl ID | ENSG00000104529 |
| UniProt ID | Q9Y676 |
| OMIM ID | 611981 |
| HGNC ID | 14512 |
| Aliases | C6orf14, HSPC183, MRP-S18-2, S18mt-2 |
Description
MRPS18B encodes a 28S mitochondrial ribosomal small subunit protein. It is a component of the mitochondrial ribosome (mitoribosome), which translates mitochondrial DNA-encoded proteins essential for oxidative phosphorylation. The protein localizes to the mitochondria.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Combined oxidative phosphorylation deficiency | Defective mitochondrial translation due to MRPS18B mutations | PMID: 25609768 |
| Hepatocellular carcinoma | Altered MRPS18B expression linked to tumor progression | PMID: 30942418 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Heart | 10.2 | Medium |
| Brain | 6.8 | Low |
| Kidney | 9.1 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.3 | Hepatocellular carcinoma cell line |
| HeLa | 11.7 | Cervical adenocarcinoma cell line |
| K562 | 8.5 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.322C>T (p.Arg108Trp) | Missense | Rare | Reduced mitochondrial translation |
| c.418G>A (p.Gly140Ser) | Missense | Rare | Impaired ribosome assembly |
Mutation functional classification
Loss of Function (LOF)
Missense mutations impair mitochondrial ribosomal function and protein synthesis.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrial translation | • structural constituent of ribosome |
| • mitochondrion | • ribosome |
Pathways
• Mitochondrial translation
• Oxidative phosphorylation
Protein Summary
MRPS18B is a 28S mitochondrial ribosomal protein that forms part of the small subunit of the mitoribosome. It is involved in mitochondrial protein synthesis, crucial for ATP production via oxidative phosphorylation. Mutations can lead to mitochondrial disorders.
Related Services
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|---|---|---|---|---|
| No Data | ||||
