HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
4 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
RPUSD2
RNA pseudouridine synthase domain containing 2
Chromosome 15 · 15q15.1
NCBI Gene: 27079Ensembl: ENSG00000166133.19HGNC: HGNC:24180UniProt: Q8IZ73
19PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
pseudouridine synthase activitymRNA pseudouridine synthesisRNA bindingenzyme-directed rRNA pseudouridine synthesishypertensionX-linked retinal dysplasiaStargardt diseasesevere early-childhood-onset retinal dystrophy
✦AI Summary

RPUSD2 is a pseudouridine synthase that catalyzes pseudouridylation of RNA molecules, a post-transcriptional modification abundant in human cells. As a member of the RluA family of stand-alone pseudouridine synthases, RPUSD2 exhibits substrate specificity for mitochondrial tRNAs, specifically pseudouridylating Ψ31 of mt-tRNALeu(CUN), Ψ32 of mt-tRNAPro, and mt-tRNACys 1. RPUSD2 functions alongside other PUS enzymes in tRNA anticodon stem-loop regions, where it participates in an unexpected interplay with enzymes like PUS1 and PUS7 that can influence each other's pseudouridylation activity 1. The enzyme contributes to comprehensive pseudouridine modification patterns across human tRNAs at distinct pre-tRNA processing stages 2. Clinically, RPUSD2 is significantly overexpressed in basal-subtype breast cancer, where its elevated levels are linked to poor survival outcomes 3. Additionally, RPUSD2 was identified as a target of the tumor-suppressive microRNA hsa-let-7i in colorectal cancer 4, suggesting dysregulation in cancer contexts. These findings position RPUSD2 as both a critical epitranscriptomic regulator and a potential cancer biomarker.

Sources cited
1
RPUSD2 pseudouridylates Ψ31 of mt-tRNALeu(CUN), Ψ32 of mt-tRNAPro and mt-tRNACys; participates in PUS interplay during Ψ formation
PMID: 41698914
2
RPUSD2 is a stand-alone PUS with previously unknown targets; contributes to comprehensive pseudouridine map in human tRNAs
PMID: 41136621
3
RPUSD2 is significantly overexpressed in basal breast cancer subtype and linked to poor survival
PMID: 40918643
4
RPUSD2 was identified as a target gene of hsa-let-7i microRNA in colorectal cancer metastasis
PMID: 21625861
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
hypertensionOpen Targets
0.06Suggestive
X-linked retinal dysplasiaOpen Targets
0.05Suggestive
severe early-childhood-onset retinal dystrophyOpen Targets
0.05Suggestive
Stargardt diseaseOpen Targets
0.05Suggestive
essential hypertensionOpen Targets
0.04Suggestive
glycoprotein storage diseaseOpen Targets
0.03Suggestive
hemoglobin H diseaseOpen Targets
0.03Suggestive
hereditary persistence of fetal hemoglobin-sickle cell disease syndromeOpen Targets
0.03Suggestive
Hemoglobin C - beta-thalassemiaOpen Targets
0.03Suggestive
hemoglobin C-beta-thalassemia syndromeOpen Targets
0.03Suggestive
Abnormality of refractionOpen Targets
0.03Suggestive
dominant beta-thalassemiaOpen Targets
0.03Suggestive
prostate carcinomaOpen Targets
0.03Suggestive
nontoxic goiterOpen Targets
0.02Suggestive
hepatocellular carcinomaOpen Targets
0.02Suggestive
cancerOpen Targets
0.01Suggestive
nervous system diseaseOpen Targets
0.01Suggestive
prostate adenocarcinomaOpen Targets
0.01Suggestive
breast cancerOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
MALSU1Protein interaction99%MRM3Protein interaction98%GTPBP3Protein interaction90%PUS7LProtein interaction82%MRPL17Protein interaction78%TRUB1Protein interaction73%
Tissue Expression6 tissues
Heart
100%
Bone Marrow
99%
Liver
97%
Ovary
66%
Lung
45%
Brain
44%
Gene Interaction Network
Click a node to explore
RPUSD2MALSU1MRM3GTPBP3PUS7LMRPL17TRUB1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8IZ73
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.05LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.76 [0.56–1.05]
RankingsWhere RPUSD2 stands among ~20K protein-coding genes
  • #14,522of 20,598
    Most Researched19
  • #10,555of 17,882
    Most Constrained (LOEUF)1.05
Genes detectedRPUSD2
Sources retrieved4 papers
Response time—
📄 Sources
4
1
A comprehensive tRNA pseudouridine map uncovers targets dependent on human stand-alone pseudouridine synthases.
PMID: 41136621
Nat Cell Biol · 2025
1.00
2
Quantitative analysis of small RNA pseudouridylation reveals interplay of PUS enzymes in tRNA anticodon stem-loop.
PMID: 41698914
Nat Commun · 2026
0.75
3
Analysis of the mRNA modification machinery alterations in breast cancer through the SCAN-B cohort.
PMID: 40918643
NAR Cancer · 2025
0.50
4
Comprehensive gene and microRNA expression profiling reveals the crucial role of hsa-let-7i and its target genes in colorectal cancer metastasis.
PMID: 21625861
Mol Biol Rep · 2012
0.25