NSUN3 NOP2/Sun RNA methyltransferase 3
Gene ID: 63899, updated on 5-Mar-2024Gene type: protein coding
Also known as: MST077; COXPD48; MSTP077
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- Go to complete Gene record for NSUN3
- Go to Variation Viewer for NSUN3 variants
Summary
Enables tRNA (cytosine-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, Apr 2022]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Combined oxidative phosphorylation deficiency 48 | See labs |
| Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese. GeneReviews: Not available |
Genomic context
- Location:
- 3q11.2
- Sequence:
- Chromosome: 3; NC_000003.12 (94063061..94131832)
- Total number of exons:
- 7
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for NSUN3 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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