TRMT10A (tRNA methyltransferase 10A)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 93587
Gene name TRNA methyltransferase 10A
Gene symbol TRMT10A
Synonyms (NCBI Gene)
HEL-S-88MSSGMMSSGM1RG9MTD2TRM10
Chromosome 4
Chromosome location 4q23
Summary This gene encodes a protein that belongs to the tRNA (Guanine-1)-methyltransferase family. A similar gene in yeast modifies several different tRNA species. Mutations in this gene are associated with microcephaly, short stature, and impaired glucose metabo
SNPs SNP information provided by dbSNP.
3
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (3)
SNP ID Visualize variation Clinical significance Consequence
rs142895837 C>A Pathogenic Stop gained, coding sequence variant
rs587777743 G>A Likely-pathogenic Stop gained, coding sequence variant
rs587777744 C>T Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
1
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (1)
miRTarBase ID miRNA Experiments Reference
MIRT019687 hsa-miR-375 Microarray 20215506
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (24)
GO ID Ontology Definition Evidence Reference
GO:0000049 Function TRNA binding IBA
GO:0000049 Function TRNA binding IDA 25053765
GO:0002939 Process TRNA N1-guanine methylation IBA
GO:0002939 Process TRNA N1-guanine methylation IMP 32392304
GO:0003723 Function RNA binding HDA 22658674
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
616013 28403 ENSG00000145331
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8TBZ6
Protein name tRNA methyltransferase 10 homolog A (EC 2.1.1.221) (RNA (guanine-9-)-methyltransferase domain-containing protein 2) (tRNA (guanine(9)-N(1))-methyltransferase TRMT10A)
Protein function S-adenosyl-L-methionine-dependent guanine N(1)-methyltransferase that catalyzes the formation of N(1)-methylguanine at position 9 (m1G9) in tRNAs (PubMed:23042678, PubMed:25053765). Probably not able to catalyze formation of N(1)-methyladenine a
PDB 4FMW
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01746 tRNA_m1G_MT 110 → 276 tRNA (Guanine-1)-methyltransferase Family
Tissue specificity TISSUE SPECIFICITY: Expressed in embryonic and fetal brain. It is expressed throughout the dorsal telencephalon at 8 and 11 weeks of gestation, with highest expression in ventricular zone and marginal zone. Detected in cerebellar cortex and nuclei, but no
Sequence 
MSSEMLPAFIETSNVDKKQGINEDQEESQKPRLGEGCEPISKRQMKKLIKQKQWEEQREL
RKQKRKEKRKRKKLERQCQMEPNSDGHDRKRVRRDVVHSTLRLIIDCSFDHLMVLKDIKK
LHKQIQRCYAENRRALHPVQFYLTSHGGQLKKNMDENDKGWVNWKDIHIKPEHYSELIKK
EDLIYLTSDSPNILKELDESKAYVIGGLVDHNHHKGLTYKQASDYGINHAQLPLGNFVKM
NSRKVLAVNHVFEIILEYLETRDWQEAFFTILPQRKGAVPTDKACESASHDNQSVRMEEG
GSDSDSSEEEYSRNELDSPHEEKQDKENHTESTVNSLPH
Sequence length 339
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (3)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Abnormality of the nervous system Likely pathogenic; Pathogenic rs1314619609 RCV001814306
Microcephaly, short stature, and impaired glucose metabolism 1 Pathogenic; Likely pathogenic rs1383664881, rs1724246827, rs587777743, rs587777744, rs748994888, rs2476032136, rs2476027546, rs1723938282 RCV001806433
RCV005868488
RCV000144247
RCV000144248
RCV002290853
RCV002289180
RCV003152861
RCV001251196
See cases Likely pathogenic; Pathogenic rs748994888 RCV002252973
Show/Hide Unknown Diseases (1)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
TRMT10A-related disorder Benign; Conflicting classifications of pathogenicity; Likely benign rs34135026, rs143207059, rs147815779, rs140905333, rs767807581 RCV003921171
RCV003935316
RCV003960185
RCV003950430
RCV003940411
Show/Hide Text Mining Associations (12)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Aphasia Associate 33067246
Colorectal Neoplasms Associate 20459617
Diabetes Mellitus Associate 26526202, 33067246, 33448213
Diabetes Mellitus Type 2 Associate 26526202, 33067246
Epilepsy Associate 26526202, 33067246
Glucose Metabolism Disorders Associate 37949221
Growth Disorders Associate 33448213
Insulin Resistance Associate 33067246
Intellectual Disability Associate 26526202, 33067246, 33448213, 37949221
Kidney Diseases Associate 33448213