CTU2 (cytosolic thiouridylase subunit 2)

2014-11-01  

Identity

HGNC
LOCATION
16q24.3
LOCUSID
ALIAS
C16orf84,MFRG,NCS2,UPF0432
FUSION GENES

Other Information

Locus ID:

NCBI: 348180
MIM: 617057
HGNC: 28005
Ensembl: ENSG00000174177

Variants:

dbSNP: 348180
ClinVar: 348180
TCGA: ENSG00000174177
COSMIC: CTU2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000174177ENST00000312060Q2VPK5
ENSG00000174177ENST00000453996Q2VPK5
ENSG00000174177ENST00000564105H3BNM3
ENSG00000174177ENST00000564921H3BNU5
ENSG00000174177ENST00000567316H3BPG4
ENSG00000174177ENST00000567949H3BSW6

Expression (GTEx)

0
5
10
15
20

Pathways

PathwaySourceExternal ID
Sulfur relay systemKEGGko04122
Sulfur relay systemKEGGhsa04122
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

References

Pubmed IDYearTitleCitations
190178112008A functional proteomics approach links the ubiquitin-related modifier Urm1 to a tRNA modification pathway.61
313011552019Biallelic variants in CTU2 cause DREAM-PL syndrome and impair thiolation of tRNA wobble U34.0

Citation

Dessen P

CTU2 (cytosolic thiouridylase subunit 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62198/ctu2-(cytosolic-thiouridylase-subunit-2)