NSUN4 (NOP2/Sun RNA methyltransferase 4)

2014-08-01  

Identity

HGNC
LOCATION
1p33
LOCUSID
ALIAS
SHTAP
FUSION GENES

Other Information

Locus ID:

NCBI: 387338
MIM: 615394
HGNC: 31802
Ensembl: ENSG00000117481

Variants:

dbSNP: 387338
ClinVar: 387338
TCGA: ENSG00000117481
COSMIC: NSUN4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000117481ENST00000307089M0R1K5
ENSG00000117481ENST00000469918A0A087WUV3
ENSG00000117481ENST00000474844Q96CB9
ENSG00000117481ENST00000486270A0A087X0V6
ENSG00000117481ENST00000495427A0A087WT36
ENSG00000117481ENST00000498008Q6ZRQ1
ENSG00000117481ENST00000537428Q96CB9

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90

Pathways

PathwaySourceExternal ID
Gene ExpressionREACTOMER-HSA-74160
rRNA processingREACTOMER-HSA-72312
rRNA processing in the mitochondrionREACTOMER-HSA-8868766
rRNA modification in the mitochondrionREACTOMER-HSA-6793080

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
243879842014Global changes in DNA methylation and hydroxymethylation in Alzheimer's disease human brain.89
190860532009Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment.34
229496732012Structure of the human MTERF4-NSUN4 protein complex that regulates mitochondrial ribosome biogenesis.30

Citation

Dessen P

NSUN4 (NOP2/Sun RNA methyltransferase 4)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54510/nsun4