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GeneE
8 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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TYW5
tRNA-yW synthesizing protein 5
Chromosome 2 · 2q33.1
NCBI Gene: 129450Ensembl: ENSG00000162971.12HGNC: HGNC:26754UniProt: A2RUC4
16PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
tRNA bindingiron ion bindingprotein bindingprotein homodimerization activityschizophreniaAbnormality of the skeletal systemchronic pancreatitisautism spectrum disorder
✦AI Summary

TYW5 is a tRNA hydroxylase that catalyzes the hydroxylation of 7-(α-amino-α-carboxypropyl)wyosine (yW-72) into undermodified hydroxywybutosine (OHyW*) as a component of the wybutosine biosynthesis pathway 1. The enzyme functions as a Fe(II)/2-oxoglutarate-dependent oxygenase containing a Jumonji C (JmjC) domain with a β-jellyroll catalytic fold and forms homodimers through C-terminal helix bundles for tRNA recognition 2. Wybutosine and its derivatives are hypermodified guanosines at position 37 of phenylalanine tRNA, essential for accurate codon translation 1. Beyond its canonical tRNA modification role, TYW5 has emerged as a significant schizophrenia risk gene. Genome-wide association studies combined with brain expression quantitative trait loci analyses identified TYW5 as associated with schizophrenia susceptibility 34. The schizophrenia risk variants rs796364 and rs281759 disrupt transcription factor binding and modulate TYW5 expression in the brain; increased TYW5 expression is observed in schizophrenia cases compared to controls 5. TYW5 overexpression alters neural stem cell proliferation and differentiation, as well as dendritic spine density, suggesting pathogenic mechanisms involving neurodevelopmental disruption 5. These findings identify TYW5 as a potential therapeutic target for schizophrenia.

Sources cited
1
TYW5 acts as an Fe(II)/2-oxoglutarate-dependent RNA hydroxylase catalyzing hydroxywybutosine biosynthesis in tRNA
PMID: 20739293
2
Crystal structure reveals TYW5 has a JmjC domain with β-jellyroll fold, forms homodimers, and is essential for tRNA binding and substrate recognition
PMID: 20972222
3
TYW5 mRNA expression is significantly associated with schizophrenia risk through genetic and brain expression analysis
PMID: 35527273
4
TYW5 reached transcriptome-wide significance in schizophrenia TWAS and is dysregulated in dorsolateral prefrontal cortex of schizophrenia cases
PMID: 37092861
5
Schizophrenia risk variants rs796364 and rs281759 regulate TYW5 expression; TYW5 overexpression alters neural stem cell proliferation and dendritic spine density
PMID: 34581804
6
TYW5 is classified among small JMJD proteins with diverse physiological functions and disease relevance
PMID: 31034925
Disease Associationsⓘ20
schizophreniaOpen Targets
0.42Moderate
Abnormality of the skeletal systemOpen Targets
0.34Weak
chronic pancreatitisOpen Targets
0.30Weak
autism spectrum disorderOpen Targets
0.30Weak
sleep apneaOpen Targets
0.23Weak
bipolar disorderOpen Targets
0.22Weak
smoking initiationOpen Targets
0.19Weak
attention deficit hyperactivity disorderOpen Targets
0.18Weak
major depressive disorderOpen Targets
0.16Weak
anorexia nervosaOpen Targets
0.16Weak
obsessive-compulsive disorderOpen Targets
0.16Weak
Tourette syndromeOpen Targets
0.16Weak
insomniaOpen Targets
0.16Weak
intelligenceOpen Targets
0.14Weak
placental retentionOpen Targets
0.10Weak
metabolic diseaseOpen Targets
0.10Suggestive
sinusitisOpen Targets
0.09Suggestive
substance abuseOpen Targets
0.09Suggestive
preeclampsiaOpen Targets
0.08Suggestive
drug allergyOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
TYW1Protein interaction79%TYW3Protein interaction79%RIOX2Protein interaction74%LCMT2Protein interaction73%TYW2Protein interaction73%RIOX1Protein interaction70%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
33%
Ovary
32%
Brain
30%
Lung
26%
Heart
15%
Gene Interaction Network
Click a node to explore
TYW5TYW1TYW3RIOX2LCMT2TYW2RIOX1
PROTEIN STRUCTURE
Preparing viewer…
PDB3AL5 · 2.50 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.17LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.87 [0.67–1.17]
RankingsWhere TYW5 stands among ~20K protein-coding genes
  • #15,432of 20,598
    Most Researched16
  • #12,185of 17,882
    Most Constrained (LOEUF)1.17
Genes detectedTYW5
Sources retrieved8 papers
Response time—
📄 Sources
8▼
1
Comprehensive and integrative analyses identify TYW5 as a schizophrenia risk gene.
PMID: 35527273
BMC Med · 2022
1.00
2
The small members of the JMJD protein family: Enzymatic jewels or jinxes?
PMID: 31034925
Biochim Biophys Acta Rev Cancer · 2019
0.88
3
Brain transcriptome-wide association study implicates novel risk genes underlying schizophrenia risk.
PMID: 37092861
Psychol Med · 2023
0.75
4
Crystal structure of a novel JmjC-domain-containing protein, TYW5, involved in tRNA modification.
PMID: 20972222
Nucleic Acids Res · 2011
0.63
5
Crystal structure and functional analysis of JMJD5 indicate an alternate specificity and function.
PMID: 22851697
Mol Cell Biol · 2012
0.50