Cytosolic Thiouridylase, Subunit 2

Alternative Names

  • CTU2
  • Chromosome 16 Open Reading Frame 84
  • C16ORF84
  • UPF0432
  • NCS2, S. Cerevisiae, Homolog of
Back to search Result
OMIM Number

617057

NCBI Gene ID

348180

Uniprot ID

Q2VPK5

Length

8,916 bases

No. of Exons

15

No. of isoforms

3

Protein Name

Cytoplasmic tRNA 2-thiolation protein 2

Molecular Mass

56107 Da

Amino Acid Count

515

Genomic Location

chr16:88,706,480-88,715,395

Gene Map Locus
16q24.3

Description

This gene encodes a protein which is involved in the post-transcriptional modification of transfer RNAs (tRNAs). The encoded protein plays a role in thiolation of uridine residue present at the wobble position in a subset of tRNAs, resulting in enhanced codon reading accuracy. [From OMIM]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001012759.2:c.873G>ASaudi Arabia; United A...NC_000016.10:g.88713447G>APathogenicPathogenicMicrocephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia SyndromeNG_042229.1:g.76774C>T; NM_001012759.2:c.873G>A; NP_001012777.1:p.Thr291=769481947585016
© CAGS 2024. All rights reserved.