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CTU2

Chr 16q24.3

cytosolic thiouridylase subunit 2

Aliases:
NCS2
MANE:
ENST00000453996.7

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Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • CAKUT

    BIALLELIC, autosomal or pseudoautosomal
  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal
  • Differences in sex development

    BIALLELIC, autosomal or pseudoautosomal
  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal
  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal
  • Paediatric disorders - additional genes

    BIALLELIC, autosomal or pseudoautosomal
  • Severe microcephaly

    BIALLELIC, autosomal or pseudoautosomal
  • Early onset or syndromic epilepsy

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome

    0.75
  • Varicose veins

    0.41
  • microcephaly

    0.34
  • osteoarthritis, knee

    0.32
  • congenital anomaly of kidney and urinary tract

    0.29
  • vein disorder

    0.28
  • osteoarthritis, hip

    0.26
  • lymphatic system disorder

    0.24
  • cardiovascular disorder

    0.21
  • osteoarthritis

    0.21

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Cytoplasmic tRNA 2-thiolation protein 2

Plays a central role in 2-thiolation of mcm(5)S(2)U at tRNA wobble positions of tRNA(Lys), tRNA(Glu) and tRNA(Gln). May act by forming a heterodimer with CTU1/ATPBD3 that ligates sulfur from thiocarboxylated URM1 onto the uridine of tRNAs at wobble position

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.