CTU2

Chr 16AR

cytosolic thiouridylase subunit 2

Also known as: C16orf84, MFRG, NCS2, UPF0432

NCBI Gene: 348180 ENSG00000174177 UniProt: Q2VPK5 OMIM: 617057

This protein performs 2-thiolation of specific uridine residues at wobble positions in tRNAs, which enhances codon reading accuracy during protein synthesis. Biallelic mutations cause microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome with autosomal recessive inheritance. The gene is not highly constrained against loss-of-function variants, which is consistent with its recessive inheritance pattern.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

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. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndromeMIM #618142

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.50

LOEUF

LOF

Mechanism· G2P