NSUN3 (NOP2/Sun RNA methyltransferase 3)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 63899 |
| Gene name | NOP2/Sun RNA methyltransferase 3 |
| Gene symbol | NSUN3 |
| Synonyms (NCBI Gene) |
COXPD48MST077MSTP077
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| Chromosome | 3 |
| Chromosome location | 3q11.2 |
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SNPs
SNP information provided by dbSNP.
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miRNA
miRNA information provided by mirtarbase database.
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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Q9H649 | ||||||||||
| Protein name | tRNA (cytosine(34)-C(5))-methyltransferase, mitochondrial (EC 2.1.1.-) (NOL1/NOP2/Sun domain family member 3) | ||||||||||
| Protein function | Mitochondrial tRNA methyltransferase that mediates methylation of cytosine to 5-methylcytosine (m5C) at position 34 of mt-tRNA(Met) (PubMed:27214402, PubMed:27356879, PubMed:27497299). mt-tRNA(Met) methylation at cytosine(34) takes place at the | ||||||||||
| Family and domains |
Pfam
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| Sequence |
MLTQLKAKSEGKLAKQICKVVLDHFEKQYSKELGDAWNTVREILTSPSCWQYAVLLNRFN |
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| Sequence length | 340 | ||||||||||
| Interactions | View interactions | ||||||||||
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Evidence Score:
★☆☆☆☆ Gene-disease association found in Text Mining only
★★☆☆☆ Found in Text Mining and Unknown/Other Associations
★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources
★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
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Related Genes
Genes most often co-reported with NSUN3 across shared curated disease and pathway associations.
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Diseases Linked via Similar Genes
Diseases curated for genes most similar to NSUN3 (see Related Genes above), that are NOT already directly curated for NSUN3 itself -- a lead worth checking, not a confirmed association.
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