NSUN2 (NOP2/Sun RNA methyltransferase 2)

2003-12-01  

Identity

HGNC
NSUN2
LOCATION
5p15.31
LOCUSID
54888
ALIAS
MISU,MRT5,SAKI,TRM4
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 54888
MIM: 610916
HGNC: 25994
Ensembl: ENSG00000037474

Variants:

dbSNP: 54888
ClinVar: 54888
TCGA: ENSG00000037474
COSMIC: NSUN2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000037474ENST00000264670Q08J23
ENSG00000037474ENST00000504374A0A140T9Y7
ENSG00000037474ENST00000506139Q08J23
ENSG00000037474ENST00000514127A0A140T9Z1

Expression (GTEx)

0
50
100
150
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
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
250636732014Aberrant methylation of tRNAs links cellular stress to neuro-developmental disorders.131
238716662013NSun2-mediated cytosine-5 methylation of vault noncoding RNA determines its processing into regulatory small RNAs.126
2841803820175-methylcytosine promotes mRNA export - NSUN2 as the methyltransferase and ALYREF as an m5C reader.93
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
225415592012Mutations in NSUN2 cause autosomal-recessive intellectual disability.75
225415622012Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disability.66
225772242012Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome.64
170717142006Identification of human tRNA:m5C methyltransferase catalysing intron-dependent m5C formation in the first position of the anticodon of the pre-tRNA Leu (CAA).62
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
195968472009The nucleolar RNA methyltransferase Misu (NSun2) is required for mitotic spindle stability.50

Citation

Dessen P

NSUN2 (NOP2/Sun RNA methyltransferase 2)

Atlas Genet Cytogenet Oncol Haematol. 2003-12-01

Online version: http://atlasgeneticsoncology.org/gene/40599/nsun2