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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CTU2
cytosolic thiouridylase subunit 2
Chromosome 16 Β· 16q24.3
NCBI Gene: 348180Ensembl: ENSG00000174177.13HGNC: HGNC:28005UniProt: H3BSW6
27PubMed Papers
21Diseases
0Drugs
8Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein-containing complexcytosolprotein bindingtRNA wobble position uridine thiolationmicrocephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndromeVaricose veinsmicrocephalyvein disorder
✦AI Summary

CTU2 (cytosolic thiouridylase subunit 2) is an essential enzyme that catalyzes the thiolation modification of wobble uridine 34 (U34) in specific tRNAs, including tRNA-Lys, tRNA-Glu, and tRNA-Gln 1. CTU2 forms a functional complex with CTU1 to perform this critical tRNA modification, which is required for accurate codon-anticodon interactions during protein translation 1. The enzyme contains a [4Fe-4S] cluster that is essential for its catalytic activity, with three conserved cysteines coordinating the cluster 2. Functionally, CTU2-mediated tRNA modifications regulate translation of specific mRNAs, including HIF1A, thereby influencing cellular metabolism and glycolysis 3. Disease-wise, biallelic CTU2 variants cause DREAM-PL syndrome, characterized by microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia 1. In cancer, CTU2 is overexpressed across multiple tumor types and promotes oncogenesis through codon-specific translation reprogramming 34. CTU2 expression correlates with therapy resistance in melanoma and poor prognosis in various cancers, making it a potential therapeutic target and biomarker 345. The enzyme's role in immune microenvironment modulation further emphasizes its clinical significance in cancer immunotherapy 4.

Sources cited
1
CTU2 catalyzes wobble uridine thiolation in tRNAs and causes DREAM-PL syndrome when mutated
PMID: 31301155
2
CTU2 contains a [4Fe-4S] cluster coordinated by three cysteines essential for catalytic activity
PMID: 37005440
3
CTU2 regulates codon-specific translation of HIF1A and promotes melanoma therapy resistance
PMID: 29925953
4
CTU2 is overexpressed in multiple cancer types and correlates with immune microenvironment changes
PMID: 40375999
5
CTU2 is regulated by LXR and promotes hepatocellular carcinoma development through lipogenesis
PMID: 38630355
Disease Associationsβ“˜21
microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndromeOpen Targets
0.75Strong
Varicose veinsOpen Targets
0.39Weak
microcephalyOpen Targets
0.34Weak
vein disorderOpen Targets
0.32Weak
congenital anomaly of kidney and urinary tractOpen Targets
0.29Weak
congenital hydronephrosisOpen Targets
0.29Weak
osteoarthritis, kneeOpen Targets
0.27Weak
lymphatic system diseaseOpen Targets
0.25Weak
osteoarthritis, hipOpen Targets
0.21Weak
SeizureOpen Targets
0.18Weak
type 2 diabetes mellitusOpen Targets
0.18Weak
osteoarthritisOpen Targets
0.17Weak
cardiovascular diseaseOpen Targets
0.17Weak
joint diseaseOpen Targets
0.14Weak
neoplasmOpen Targets
0.09Suggestive
cancerOpen Targets
0.08Suggestive
squamous cell carcinomaOpen Targets
0.07Suggestive
skin neoplasmOpen Targets
0.07Suggestive
immunodeficiency 88Open Targets
0.06Suggestive
hepatocellular carcinomaOpen Targets
0.06Suggestive
Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndromeUniProt
Pathogenic Variants8
NM_001012759.3(CTU2):c.727C>T (p.Gln243Ter)Pathogenic
Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 243
NM_001012759.3(CTU2):c.873G>A (p.Thr291=)Pathogenic
Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome|Microcephaly|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 291
NM_001012759.3(CTU2):c.1420-1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2023
NM_001012759.3(CTU2):c.453+1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2023
NM_001012759.3(CTU2):c.1206dup (p.Ala403fs)Pathogenic
Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome
β˜…β˜†β˜†β˜†β†’ Residue 403
NM_001012759.3(CTU2):c.1514_1517del (p.Ile505fs)Pathogenic
Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome
β˜…β˜†β˜†β˜†β†’ Residue 505
NM_001012759.3(CTU2):c.282+5G>APathogenic
Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome
β˜…β˜†β˜†β˜†
NM_001012759.3(CTU2):c.898del (p.Asp300fs)Likely pathogenic
CTU2-related disorder
β˜†β˜†β˜†β˜†2024β†’ Residue 300
View on ClinVar β†—
Related Genes
KTI12Shared pathway100%URM1Protein interaction90%ELP3Protein interaction85%NCS1Protein interaction80%DOHHProtein interaction77%MOCS3Protein interaction72%
Tissue Expression6 tissues
Liver
100%
Ovary
96%
Lung
83%
Bone Marrow
74%
Brain
56%
Heart
47%
Gene Interaction Network
Click a node to explore
CTU2KTI12URM1ELP3NCS1DOHHMOCS3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q2VPK5
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.53LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.28 [1.06–1.53]
RankingsWhere CTU2 stands among ~20K protein-coding genes
  • #12,538of 20,598
    Most Researched27
  • #3,124of 5,498
    Most Pathogenic Variants8
  • #15,374of 17,882
    Most Constrained (LOEUF)1.53
Genes detectedCTU2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Codon-specific translation reprogramming promotes resistance to targeted therapy.
PMID: 29925953
Nature Β· 2018
1.00
2
Pan-cancer analysis identifies tRNA modification enzyme CTU2 as a novel tumor biomarker and its role in immune microenvironment.
PMID: 40375999
Front Immunol Β· 2025
0.90
3
Activation of CTU2 expression by LXR promotes the development of hepatocellular carcinoma.
PMID: 38630355
Cell Biol Toxicol Β· 2024
0.80
4
Biallelic variants in CTU2 cause DREAM-PL syndrome and impair thiolation of tRNA wobble U34.
PMID: 31301155
Hum Mutat Β· 2019
0.70
5
De Novo Design of Efficient NIR-II-Activated Heavy-Atom-Free Type-I Photosensitizer for Anti-Tumor Photoimmunotherapy.
PMID: 40465313
Adv Mater Β· 2025
0.60