CTU2 Chromosome 16
Cytosolic thiouridylase subunit 2
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What This Gene Does
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]
Associated Conditions (6)
Microcephaly
facial dysmorphism
renal agenesis
and ambiguous genitalia syndrome
CTU2-related disorder
Differences in sex development
Key Variants
RS141967170
Conflicting classifications of pathogenicity
Microcephaly, facial dysmorphism, renal agenesis
Health Risk
RS142662688
Conflicting classifications of pathogenicity
CTU2-related disorder, CTU2-related disorder
Health Risk
RS144903142
Conflicting classifications of pathogenicity
CTU2-related disorder, CTU2-related disorder
Health Risk
RS147948789
Conflicting classifications of pathogenicity
Microcephaly, facial dysmorphism, renal agenesis
Health Risk
RS148239801
Conflicting classifications of pathogenicity
CTU2-related disorder, CTU2-related disorder
Health Risk
RS200836148
Conflicting classifications of pathogenicity
Microcephaly, facial dysmorphism, renal agenesis
Health Risk
RS201111272
Conflicting classifications of pathogenicity
Differences in sex development, Differences in sex development
Health Risk
RS201215099
Conflicting classifications of pathogenicity
CTU2-related disorder, CTU2-related disorder
Health Risk
RS753392867
Conflicting classifications of pathogenicity
Health Risk
RS2142722780
Likely pathogenic
Health Risk
RS752916256
Likely pathogenic
Health Risk
RS1351549465
Pathogenic
Microcephaly, facial dysmorphism, renal agenesis
Health Risk
All Variants (16)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS141967170 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly, facial dysmorphism, renal agenesis |
| RS142662688 | Health Risk | Conflicting classifications of pathogenicity | CTU2-related disorder, CTU2-related disorder |
| RS144903142 | Health Risk | Conflicting classifications of pathogenicity | CTU2-related disorder, CTU2-related disorder |
| RS147948789 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly, facial dysmorphism, renal agenesis |
| RS148239801 | Health Risk | Conflicting classifications of pathogenicity | CTU2-related disorder, CTU2-related disorder |
| RS200836148 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly, facial dysmorphism, renal agenesis |
| RS201111272 | Health Risk | Conflicting classifications of pathogenicity | Differences in sex development, Differences in sex development |
| RS201215099 | Health Risk | Conflicting classifications of pathogenicity | CTU2-related disorder, CTU2-related disorder |
| RS753392867 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2142722780 | Health Risk | Likely pathogenic | — |
| RS752916256 | Health Risk | Likely pathogenic | — |
| RS1351549465 | Health Risk | Pathogenic | Microcephaly, facial dysmorphism, renal agenesis |
| RS1597434884 | Health Risk | Pathogenic | Microcephaly, facial dysmorphism, renal agenesis |
| RS769481947 | Health Risk | Pathogenic | Microcephaly, facial dysmorphism, renal agenesis |
| RS779980669 | Health Risk | Pathogenic | Microcephaly, facial dysmorphism, renal agenesis |
| RS201104411 | Health Risk | Pathogenic/Likely pathogenic | Microcephaly, facial dysmorphism, renal agenesis |