NSUN3 (NOP2/Sun RNA methyltransferase 3)

2014-11-01  

Identity

HGNC
LOCATION
3q11.2
LOCUSID
ALIAS
COXPD48,MST077,MSTP077
FUSION GENES

Other Information

Locus ID:

NCBI: 63899
MIM: 617491
HGNC: 26208
Ensembl: ENSG00000178694

Variants:

dbSNP: 63899
ClinVar: 63899
TCGA: ENSG00000178694
COSMIC: NSUN3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000178694ENST00000314622Q9H649
ENSG00000178694ENST00000483378F8WF52

Expression (GTEx)

0
1
2
3
4
5
6
7
8
9

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
192400612009Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.75
274972992016NSUN3 and ABH1 modify the wobble position of mt-tRNAMet to expand codon recognition in mitochondrial translation.42
272144022016NSUN3 methylase initiates 5-formylcytidine biogenesis in human mitochondrial tRNA(Met).39

Citation

Dessen P

NSUN3 (NOP2/Sun RNA methyltransferase 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70990/nsun3