TRMT10A (tRNA methyltransferase 10A)

2003-05-01  

Identity

HGNC
TRMT10A
LOCATION
4q23
LOCUSID
93587
ALIAS
HEL-S-88,MSSGM,MSSGM1,RG9MTD2,TRM10

Other Information

Locus ID:

NCBI: 93587
MIM: 616013
HGNC: 28403
Ensembl: ENSG00000145331

Variants:

dbSNP: 93587
ClinVar: 93587
TCGA: ENSG00000145331
COSMIC: TRMT10A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000145331ENST00000273962Q8TBZ6
ENSG00000145331ENST00000273962V9HVY8
ENSG00000145331ENST00000394876Q8TBZ6
ENSG00000145331ENST00000394876V9HVY8
ENSG00000145331ENST00000394877Q8TBZ6
ENSG00000145331ENST00000394877V9HVY8
ENSG00000145331ENST00000455368X6REK4
ENSG00000145331ENST00000514547D6R954

Expression (GTEx)

0
1
2
3
4
5
6
7
8
9
10
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Gene ExpressionREACTOMER-HSA-74160
tRNA processingREACTOMER-HSA-72306
tRNA modification in the nucleus and cytosolREACTOMER-HSA-6782315

Protein levels (Protein atlas)

Not detected
Low
Medium
High
N/A

References

Pubmed IDYearTitleCitations
250537652014TRMT10A dysfunction is associated with abnormalities in glucose homeostasis, short stature and microcephaly.31
242043022013tRNA methyltransferase homolog gene TRMT10A mutation in young onset diabetes and primary microcephaly in humans.28
302477172018Pancreatic β-cell tRNA hypomethylation and fragmentation link TRMT10A deficiency with diabetes.11
265262022016tRNA methyltransferase homologue gene TRMT10A mutation in young adult-onset diabetes with intellectual disability, microcephaly and epilepsy.10
262978822015Homozygous deletion of TRMT10A as part of a contiguous gene deletion in a syndrome of failure to thrive, delayed puberty, intellectual disability and diabetes mellitus.9
312922612019Distinct substrate specificities of the human tRNA methyltransferases TRMT10A and TRMT10B.3

Citation

Dessen P

TRMT10A (tRNA methyltransferase 10A)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/42095/trmt10a