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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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MRPL19
mitochondrial ribosomal protein L19
Chromosome 2 · 2p12
NCBI Gene: 9801Ensembl: ENSG00000115364.15HGNC: HGNC:14052UniProt: P49406
83PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
mitochondrial large ribosomal subunitprotein bindingnucleusmitochondrionneurodegenerative diseasecontact dermatitislung adenocarcinomapolyarteritis nodosa
✦AI Summary

MRPL19 (mitochondrial ribosomal protein L19) is a structural component of the mitochondrial large ribosomal subunit that functions in mitochondrial protein synthesis 1. The gene is located on chromosome 2 and plays a role in mitochondrial translation processes essential for cellular energy production 2. MRPL19 has been implicated in neurodevelopmental disorders, particularly reading disabilities and dyslexia, where it acts as a susceptibility gene within the DYX3 locus 23. The gene shows co-regulated expression with C2ORF3, and carriers of risk haplotypes demonstrate significantly reduced MRPL19 expression compared to non-carriers 2. In autism spectrum disorders, MRPL19 variants are associated with language skill variations, suggesting shared genetic contributions across neurodevelopmental conditions 4. Functionally, MRPL19 appears to contribute to cellular stress responses, as knockout studies demonstrate that MRPL19 inhibition increases cell viability and reduces apoptosis following oxygen-glucose deprivation/reperfusion injury 1. The gene has also been studied in the context of diabetic retinopathy, though with variable association results across populations 5. Additionally, MRPL19 methylation patterns are affected by environmental toxins like methylmercury, suggesting epigenetic regulation mechanisms 6.

Sources cited
1
MRPL19 is a mitochondrial ribosomal protein involved in mitochondrial translation and cellular stress responses
PMID: 32618081
2
MRPL19 is located on chromosome 2p12 within the DYX3 dyslexia susceptibility locus and shows co-regulated expression with C2ORF3
PMID: 17309879
3
MRPL19 is implicated as a candidate gene for reading disability within the DYX3 locus
PMID: 19302769
4
MRPL19 variants are associated with language skills in children with autism spectrum disorders
PMID: 25448322
5
MRPL19 has been studied for association with diabetic retinopathy
PMID: 37066695
6
MRPL19 methylation is affected by methylmercury exposure
PMID: 36176303
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.52Moderate
contact dermatitisOpen Targets
0.29Weak
lung adenocarcinomaOpen Targets
0.08Suggestive
polyarteritis nodosaOpen Targets
0.04Suggestive
fungal infectious diseaseOpen Targets
0.04Suggestive
preeclampsiaOpen Targets
0.04Suggestive
ankylosing spondylitisOpen Targets
0.04Suggestive
sinusitisOpen Targets
0.03Suggestive
psoriatic arthritisOpen Targets
0.03Suggestive
male reproductive organ cancerOpen Targets
0.03Suggestive
male infertilityOpen Targets
0.03Suggestive
facial painOpen Targets
0.03Suggestive
restless legs syndromeOpen Targets
0.03Suggestive
Abruptio PlacentaeOpen Targets
0.03Suggestive
schizophreniaOpen Targets
0.03Suggestive
type 1 diabetes mellitusOpen Targets
0.03Suggestive
exostosisOpen Targets
0.03Suggestive
iron metabolism diseaseOpen Targets
0.03Suggestive
multiple sclerosisOpen Targets
0.02Suggestive
cancerOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
MRPL34Protein interaction100%MRPL43Protein interaction100%MRPL52Protein interaction100%MRPL10Protein interaction100%MRPL55Protein interaction100%ABCF1Protein interaction100%
Tissue Expression6 tissues
Heart
100%
Liver
93%
Brain
79%
Bone Marrow
33%
Lung
30%
Ovary
24%
Gene Interaction Network
Click a node to explore
MRPL19MRPL34MRPL43MRPL52MRPL10MRPL55ABCF1
PROTEIN STRUCTURE
Preparing viewer…
PDB7OF0 · 2.20 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.37LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.00 [0.73–1.37]
RankingsWhere MRPL19 stands among ~20K protein-coding genes
  • #5,741of 20,598
    Most Researched83
  • #14,310of 17,882
    Most Constrained (LOEUF)1.37
Genes detectedMRPL19
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services.
PMID: 24188901
Gene · 2014
1.00
2
The genetics of reading disability.
PMID: 19302769
Curr Psychiatry Rep · 2009
0.90
3
Methylmercury-induced DNA methylation-From epidemiological observations to experimental evidence.
PMID: 36176303
Front Genet · 2022
0.80
4
Language impairment and dyslexia genes influence language skills in children with autism spectrum disorders.
PMID: 25448322
Autism Res · 2015
0.70
5
A locus on 2p12 containing the co-regulated MRPL19 and C2ORF3 genes is associated to dyslexia.
PMID: 17309879
Hum Mol Genet · 2007
0.60