NSUN3 Chromosome 3
NOP2/Sun RNA methyltransferase 3
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What This Gene Does
Enables tRNA (cytidine-5-)-methyltransferase activity. Involved in regulation of mitochondrial translation and tRNA wobble base cytosine methylation. Located in mitochondrial matrix. Implicated in combined oxidative phosphorylation deficiency 48. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
"NOP2/Sun RNA methyltransferase family|DNA/RNA methyltransferases"
Locus Type
gene with protein product
Location
3q11.2
Ensembl
ENSG00000178694
Associated Conditions (2)
Combined oxidative phosphorylation deficiency 48
Inborn genetic diseases
Key Variants
RS765943080
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation deficiency 48, Combined oxidative phosphorylation deficiency 48
Health Risk
RS1576086329
Likely pathogenic
Health Risk
RS2077283982
Pathogenic
Combined oxidative phosphorylation deficiency 48, Combined oxidative phosphorylation deficiency 48
Health Risk
RS2077284206
Pathogenic
Combined oxidative phosphorylation deficiency 48, Combined oxidative phosphorylation deficiency 48
Health Risk
RS779924826
Pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS765943080 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation deficiency 48, Combined oxidative phosphorylation deficiency 48 |
| RS1576086329 | Health Risk | Likely pathogenic | — |
| RS2077283982 | Health Risk | Pathogenic | Combined oxidative phosphorylation deficiency 48, Combined oxidative phosphorylation deficiency 48 |
| RS2077284206 | Health Risk | Pathogenic | Combined oxidative phosphorylation deficiency 48, Combined oxidative phosphorylation deficiency 48 |
| RS779924826 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |