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GeneE
2 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
MRPL30
mitochondrial ribosomal protein L30
Chromosome 2 Β· 2q11.2
NCBI Gene: 51263Ensembl: ENSG00000185414.21HGNC: HGNC:14036UniProt: Q8TCC3
45PubMed Papers
18Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
mitochondrionmitochondrial large ribosomal subunitmitochondrial translationmitochondrial inner membraneneurodegenerative diseaseliver diseasedevice complicationmale reproductive organ cancer
✦AI Summary

MRPL30 encodes a mitochondrial ribosomal protein component of the large ribosomal subunit, functioning in mitochondrial translation. Based on limited published evidence, MRPL30 has been identified as a candidate biomarker gene associated with asymptomatic Alzheimer's Disease through differential expression analysis across multiple brain cohorts 1, and as a differentially expressed gene in Type 2 Diabetes Mellitus studies 2. However, its specific molecular mechanisms in these disease contexts remain unclear and require further investigation.

Sources cited
1
MRPL30 identified as biomarker candidate gene for asymptomatic Alzheimer's Disease through RNA-seq analysis across ROSMAP and MSBB cohorts
PMID: 41723778
2
MRPL30 identified as differentially expressed candidate gene in Type 2 Diabetes Mellitus expression profiling study
PMID: 24455749
⚠Limited data available β€” This gene has 2 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜18
neurodegenerative diseaseOpen Targets
0.52Moderate
liver diseaseOpen Targets
0.30Weak
device complicationOpen Targets
0.28Weak
male reproductive organ cancerOpen Targets
0.03Suggestive
inflammatory bowel diseaseOpen Targets
0.03Suggestive
corneal ulcerOpen Targets
0.02Suggestive
obesityOpen Targets
0.02Suggestive
type 2 diabetes mellitusOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.00Suggestive
glioblastoma multiformeOpen Targets
0.00Suggestive
Miyoshi myopathyOpen Targets
0.00Suggestive
cervical cancerOpen Targets
0.00Suggestive
Hereditary breast cancerOpen Targets
0.00Suggestive
hereditary breast carcinomaOpen Targets
0.00Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.00Suggestive
ovarian serous cystadenocarcinomaOpen Targets
0.00Suggestive
thyroid cancer, nonmedullary, 1Open Targets
0.00Suggestive
uterine corpus endometrial carcinomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
MRPL21Shared pathway100%MRPL24Shared pathway100%MRPL9Shared pathway100%MRPS6Protein interaction100%MRPS9Protein interaction100%MRPL36Protein interaction100%
Tissue Expression6 tissues
Brain
100%
Heart
92%
Liver
52%
Ovary
37%
Lung
30%
Bone Marrow
26%
Gene Interaction Network
Click a node to explore
MRPL30MRPL21MRPL24MRPL9MRPS6MRPS9MRPL36
PROTEIN STRUCTURE
Preparing viewer…
PDB7OF0 Β· 2.20 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.10LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.66 [0.42–1.10]
RankingsWhere MRPL30 stands among ~20K protein-coding genes
  • #9,481of 20,598
    Most Researched45
  • #11,184of 17,882
    Most Constrained (LOEUF)1.10
Genes detectedMRPL30
Sources retrieved2 papers
Response timeβ€”
πŸ“„ Sources
2
1
Unravelling Synaptic and Metabolic Mechanisms of Cognitive Resilience in Asymptomatic Alzheimer's Disease Across Two Alzheimer's Disease Cohorts.
PMID: 41723778
Cell Mol Neurobiol Β· 2026
1.00
2
Identifying candidate genes for Type 2 Diabetes Mellitus and obesity through gene expression profiling in multiple tissues or cells.
PMID: 24455749
J Diabetes Res Β· 2013
0.50