RPUSD2: RNA Pseudouridine Synthase Domain Containing 2
A mitochondrial pseudouridine synthase involved in RNA modification and potential links to mitochondrial disease and cancer.
Gene Information Card
| Symbol | RPUSD2 |
|---|---|
| Full Name | RNA Pseudouridine Synthase Domain Containing 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 15q21.1 |
| NCBI Gene ID | 27079 ncbi.nlm.nih.gov/gene/27079 |
| Ensembl ID | ENSG00000137804 |
| UniProt ID | Q6NYC8 |
| OMIM ID | 617687 |
| HGNC ID | 28706 |
| Aliases | FLJ20297, dJ1181N3.1 |
Description
RPUSD2 (RNA Pseudouridine Synthase Domain Containing 2) encodes a mitochondrial pseudouridine synthase that catalyzes the isomerization of uridine to pseudouridine (Ψ) in RNA. This modification is critical for mitochondrial RNA stability and translation. The protein localizes to mitochondria and is involved in the pseudouridylation of specific mitochondrial tRNAs and rRNAs. Mutations in RPUSD2 have been implicated in mitochondrial dysfunction and are associated with neurodegenerative phenotypes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial disease (neurodegenerative) | Loss of pseudouridine synthase activity leads to impaired mitochondrial translation and oxidative phosphorylation deficiency. | ClinVar; OMIM #617687 |
| Combined oxidative phosphorylation deficiency | Defective pseudouridylation of mitochondrial tRNAs disrupts protein synthesis, causing energy metabolism failure. | OMIM; PubMed studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal Muscle | 10.8 | Medium |
| Liver | 7.2 | Low |
| Brain | 6.1 | Low |
| Kidney | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 8.3 | Moderate expression |
| HeLa | 6.7 | Low expression |
| K562 | 5.9 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense/Start loss | Rare | Loss of translation initiation; likely loss of function |
| c.325C>T (p.Arg109Trp) | Missense | <0.01% | Reduced pseudouridine synthase activity |
| c.502G>A (p.Gly168Arg) | Missense | <0.01% | Impaired mitochondrial localization |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Arg109Trp) reduce or abolish pseudouridine synthase activity, leading to mitochondrial translation defects.
Gain of Function (GOF)
No evidence of gain-of-function mutations reported.
Dominant Negative (DN)
Not documented; likely recessive inheritance pattern.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Mitochondrial tRNA modification
• Pseudouridine synthesis
Protein Summary
RPUSD2 is a 389-amino acid mitochondrial protein containing a pseudouridine synthase domain. It catalyzes the conversion of uridine to pseudouridine in mitochondrial RNAs, particularly tRNAs and rRNAs. This modification is essential for proper RNA folding, stability, and efficient mitochondrial translation. The protein is ubiquitously expressed with higher levels in metabolically active tissues such as heart and skeletal muscle. Loss-of-function mutations are associated with mitochondrial disease phenotypes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RPUSD2 Knockout HEK293 Cell Line | EDJ-KQ8672 | Human | 27079 | Details Get a Quote |
| RPUSD2 Knockout A-549 Cell Line | EDJ-KQ33585 | Human | 27079 | Details Get a Quote |
| RPUSD2 Knockout HCT 116 Cell Line | EDJ-KQ34858 | Human | 27079 | Details Get a Quote |
| RPUSD2 Knockout HeLa Cell Line | EDJ-KQ34859 | Human | 27079 | Details Get a Quote |
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