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Gene Gene information from NCBI Gene database.
Entrez ID 63899
Gene name NOP2/Sun RNA methyltransferase 3
Gene symbol NSUN3
Synonyms (NCBI Gene)
COXPD48MST077MSTP077
Chromosome 3
Chromosome location 3q11.2
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs1576086329 ->A Likely-pathogenic Frameshift variant, coding sequence variant, genic upstream transcript variant
miRNA miRNA information provided by mirtarbase database.
626 Show/Hide all (626)
miRTarBase ID miRNA Experiments Reference
MIRT607994 hsa-miR-8485 HITS-CLIP 19536157
MIRT607990 hsa-miR-6767-3p HITS-CLIP 19536157
MIRT607989 hsa-miR-4536-3p HITS-CLIP 19536157
MIRT607988 hsa-miR-324-5p HITS-CLIP 19536157
MIRT607994 hsa-miR-8485 HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
21 Show/Hide all (21)
GO ID Ontology Definition Evidence Reference
GO:0000049 Function TRNA binding IEA
GO:0001510 Process RNA methylation IEA
GO:0002127 Process TRNA wobble base cytosine methylation IDA 27214402, 27356879, 27497299
GO:0003723 Function RNA binding IEA
GO:0005515 Function Protein binding IPI 33961781
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
617491 26208 ENSG00000178694
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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

Accession ID Position in sequence Description Type
PF01189 Methyltr_RsmB-F 124 → 332 16S rRNA methyltransferase RsmB/F Family
Sequence
Sequence length 340
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
15
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Combined oxidative phosphorylation deficiency 48 Pathogenic rs2077284206, rs2077283982 RCV001256013
RCV001256014
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Show/Hide Unknown Diseases (14)
Phenotype Name Clinical Significance Source Reference Evidence Score
ANOREXIA NERVOSA — GWAS catalog 36738649
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA — GWAS catalog 34594039
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER — GWAS catalog 34446935, 36738649
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHILDHOOD ONSET ASTHMA — GWAS catalog 34594039
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GASTRIC CANCER — GWAS catalog 31383772
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (6)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 21151896
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 37114236 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Mitochondrial Diseases Mitochondrial disease Pubtator 27356879, 32488845, 40465263 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Mitochondrial Encephalomyopathies Mitochondrial encephalomyopathy Pubtator 32488845 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Optic Atrophy Optic atrophy Pubtator 40465263 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Seizures Seizures Pubtator 32488845 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only