TRMT2B (tRNA methyltransferase 2 homolog B)

2014-08-01  

Identity

HGNC
TRMT2B
LOCATION
Xq22.1
LOCUSID
79979
ALIAS
CXorf34,dJ341D10.3
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 79979
HGNC: 25748
Ensembl: ENSG00000188917

Variants:

dbSNP: 79979
ClinVar: 79979
TCGA: ENSG00000188917
COSMIC: TRMT2B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000188917ENST00000372935Q96GJ1
ENSG00000188917ENST00000372935A0A024RCF5
ENSG00000188917ENST00000372936Q96GJ1
ENSG00000188917ENST00000372936A0A024RCF5
ENSG00000188917ENST00000372939Q96GJ1
ENSG00000188917ENST00000545398Q96GJ1
ENSG00000188917ENST00000545398A0A024RCF5

Expression (GTEx)

0
5
10
15
20
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

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
378744762024Association of TRMT2B gene variants with juvenile amyotrophic lateral sclerosis.2
378744762024Association of TRMT2B gene variants with juvenile amyotrophic lateral sclerosis.2
319483112020TRMT2B is responsible for both tRNA and rRNA m(5)U-methylation in human mitochondria.40
319483112020TRMT2B is responsible for both tRNA and rRNA m(5)U-methylation in human mitochondria.40

Citation

Dessen P

TRMT2B (tRNA methyltransferase 2 homolog B)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54725/gene-explorer/new-content/meetings/