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Gene Gene information from NCBI Gene database.
Entrez ID 25917
Gene name THUMP domain 3 tRNA guanosine methyltransferase
Gene symbol THUMPD3
Synonyms (NCBI Gene)
-
Chromosome 3
Chromosome location 3p25.3
miRNA miRNA information provided by mirtarbase database.
321 Show/Hide all (321)
miRTarBase ID miRNA Experiments Reference
MIRT045895 hsa-miR-125b-5p CLASH 23622248
MIRT040410 hsa-miR-615-3p CLASH 23622248
MIRT038790 hsa-miR-93-3p CLASH 23622248
MIRT652691 hsa-miR-130a-5p HITS-CLIP 23824327
MIRT652690 hsa-miR-23a-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19 Show/Hide all (19)
GO ID Ontology Definition Evidence Reference
GO:0000049 Function TRNA binding IEA
GO:0003723 Function RNA binding IEA
GO:0005515 Function Protein binding IPI 28514442, 32296183, 33961781, 34669960, 34948388
GO:0005730 Component Nucleolus IDA
GO:0005737 Component Cytoplasm IDA 34669960, 34948388
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BV44
Protein name tRNA (guanine(6)-N(2))-methyltransferase THUMP3 (EC 2.1.1.256) (THUMP domain-containing protein 3) (tRNA(Trp) (guanine(7)-N(2))-methyltransferase THUMP3) (EC 2.1.1.-)
Protein function Catalytic subunit of the THUMPD3-TRM112 methyltransferase complex, that specifically mediates the S-adenosyl-L-methionine-dependent N(2)-methylation of guanosine nucleotide at position 6 (m2G6) in tRNAs (PubMed:34669960, PubMed:37283053). This i
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01170 UPF0020 292 → 478 Putative RNA methylase family UPF0020 Domain
PF02926 THUMP 134 → 285 THUMP domain Domain
Sequence
Sequence length 507
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
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)
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 (6)
Phenotype Name Clinical Significance Source Reference Evidence Score
Acute myeloid leukemia Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Lung cancer Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Melanoma Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer Disease Alzheimer disease Pubtator 38092781 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 34588321 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Lung Neoplasms Lung neoplasms Pubtator 39656728 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Prostatic Neoplasms Prostatic neoplasm Pubtator 36514044 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Urinary Bladder Neoplasms Urinary bladder neoplasms Pubtator 34414701 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only