TRMT10A (tRNA methyltransferase 10A)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
93587
Gene name Gene Name - the full gene name approved by the HGNC.
TRNA methyltransferase 10A
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TRMT10A
Synonyms (NCBI Gene) Gene synonyms aliases
HEL-S-88, MSSGM, MSSGM1, RG9MTD2, TRM10
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q23
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
616013 28403 ENSG00000145331
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Microcephaly, Short Stature, And Impaired Glucose Metabolism microcephaly, short stature, and impaired glucose metabolism 1 rs587777743, rs587777744 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Microcephaly-Mild Intellectual Disability Diabetes Syndrome primary microcephaly-mild intellectual disability-young-onset diabetes syndrome N/A N/A GenCC
Show/Hide Text Mining Associations (12)
Associations from Text Mining Disease 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