TRMT2B (tRNA methyltransferase 2B)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 79979 |
| Gene name | TRNA methyltransferase 2B |
| Gene symbol | TRMT2B |
| Synonyms (NCBI Gene) |
CXorf34dJ341D10.3
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| Chromosome | X |
| Chromosome location | Xq22.1 |
| Summary | This gene encodes a homolog of the TRM2 gene in S. cerevisiae. The yeast gene encodes a tRNA methyltransferase that plays a role in tRNA maturation. The yeast protein also has endo-exonuclease activity and may be involved in DNA double strand break repair |
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miRNA
miRNA information provided by mirtarbase database.
234
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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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Q96GJ1 | ||||||||||
| Protein name | tRNA (uracil-5-)-methyltransferase homolog B (EC 2.1.1.35) (TRM2 homolog B) (rRNA (uracil-5-)-methyltransferase TRMT2B) (EC 2.1.1.-) | ||||||||||
| Protein function | Mitochondrial S-adenosyl-L-methionine-dependent methyltransferase that catalyzes the formation of 5-methyl-uridine in tRNAs and 12S rRNA (PubMed:31948311, PubMed:34556860). Catalyzes the methylation of uridine at position 54 (m5U54) in all tRNAs | ||||||||||
| Family and domains |
Pfam
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| Sequence |
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| Sequence length | 504 | ||||||||||
| Interactions | View interactions | ||||||||||
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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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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