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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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TSR2
TSR2 ribosome maturation factor
Chromosome X · Xp11.22
NCBI Gene: 90121Ensembl: ENSG00000158526.9HGNC: HGNC:25455UniProt: Q969E8
25PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingmaturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)nucleusBlackfan-Diamond anemiaAarskog-Scott syndrome, X-linkedDiamond-Blackfan anemiaprostate carcinoma
✦AI Summary

TSR2 is a ribosomal protein chaperone involved in 40S ribosomal subunit maturation and rRNA processing. 1 TSR2 functions as a chaperone for the ribosomal protein RPS26, a component of the 40S subunit, and plays an important role in noncanonical translation mechanisms. 1 In normal physiology, TSR2 contributes to ribosome biogenesis through participation in SSU-rRNA maturation from the tricistronic rRNA transcript. Pathogenic mutations in TSR2 are associated with Diamond-Blackfan anemia (DBA), a rare congenital bone marrow failure disorder characterized by erythroid hypoplasia. 2 3 TSR2 mutations represent a non-ribosomal protein gene cause of DBA, contributing to disrupted erythropoiesis and impaired red blood cell production through mechanisms including translational dysfunction and autophagy dysregulation. 2 Beyond ribosomopathies, TSR2 demonstrates tumor-suppressive functions. TSR2 overexpression induces apoptosis in laryngeal squamous cell carcinoma cells through NF-κB pathway inhibition 4 and suppresses gastric cancer cell proliferation and invasion via PI3K/AKT pathway downregulation. 5 Conversely, elevated TSR2 expression correlates with hypertension development through PPAR signaling pathway activation. 6 Thus, TSR2 functions as both a ribosome maturation factor essential for hematopoiesis and a multifunctional protein with disease-specific regulatory roles in cancer and cardiovascular pathology.

Sources cited
1
TSR2 mutations are associated with Diamond-Blackfan anemia and contribute to disrupted erythropoiesis
PMID: 37973818
2
TSR2 is a ribosomal protein chaperone gene and a rare cause of Diamond-Blackfan anemia
PMID: 27550323
3
TSR2 is a chaperone for RPS26 (40S ribosomal protein) and plays a role in noncanonical translation
PMID: 40377206
4
TSR2 overexpression induces laryngeal cancer cell apoptosis through NF-κB signaling pathway inhibition
PMID: 29280495
5
TSR2 is lowly expressed in gastric cancer and its overexpression inhibits cancer cell proliferation and invasion via PI3K/AKT pathway downregulation
PMID: 38862449
6
Higher TSR2 expression aggravates hypertension through PPAR signaling pathway activation
PMID: 38814181
Disease Associationsⓘ21
Blackfan-Diamond anemiaOpen Targets
0.60Moderate
Aarskog-Scott syndrome, X-linkedOpen Targets
0.49Moderate
Diamond-Blackfan anemiaOpen Targets
0.46Moderate
prostate carcinomaOpen Targets
0.31Weak
genetic disorderOpen Targets
0.17Weak
spinal muscular atrophyOpen Targets
0.16Weak
Atrophy/Degeneration affecting the central nervous systemOpen Targets
0.10Weak
gastric cancerOpen Targets
0.03Suggestive
neoplasmOpen Targets
0.02Suggestive
hypertensionOpen Targets
0.02Suggestive
laryngeal squamous cell carcinomaOpen Targets
0.01Suggestive
laryngeal neoplasmOpen Targets
0.01Suggestive
microcephalyOpen Targets
0.00Suggestive
prostate cancerOpen Targets
0.00Suggestive
systemic lupus erythematosusOpen Targets
0.00Suggestive
pontocerebellar hypoplasiaOpen Targets
0.00Suggestive
Primary microcephalyOpen Targets
0.00Suggestive
colorectal carcinomaOpen Targets
0.00Suggestive
multiple system atrophyOpen Targets
0.00Suggestive
cancerOpen Targets
0.00Suggestive
Diamond-Blackfan anemia 14, with mandibulofacial dysostosisUniProt
Pathogenic Variants1
NM_058163.3(TSR2):c.191A>G (p.Glu64Gly)Pathogenic
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis|Diamond-Blackfan anemia 15 with mandibulofacial dysostosis
★☆☆☆2015→ Residue 64
View on ClinVar ↗
Related Genes
NOL10Shared pathway100%SLX9Shared pathway100%RPS26Protein interaction100%BYSLProtein interaction100%POLR1DProtein interaction100%LTV1Protein interaction99%
Tissue Expression6 tissues
Brain
100%
Heart
53%
Bone Marrow
45%
Liver
40%
Ovary
39%
Lung
35%
Gene Interaction Network
Click a node to explore
TSR2NOL10SLX9RPS26BYSLPOLR1DLTV1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q969E8
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.36Moderately Constrained
pLIⓘ
0.99Intolerant
Observed/Expected LoF0.08 [0.03–0.36]
RankingsWhere TSR2 stands among ~20K protein-coding genes
  • #13,108of 20,598
    Most Researched25
  • #5,322of 5,498
    Most Pathogenic Variants1
  • #1,586of 17,882
    Most Constrained (LOEUF)0.36 · top 10%
Genes detectedTSR2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Perspectives of current understanding and therapeutics of Diamond-Blackfan anemia.
PMID: 37973818
Leukemia · 2024
1.00
2
TSR2 Induces laryngeal cancer cell apoptosis through inhibiting NF-κB signaling pathway.
PMID: 29280495
Laryngoscope · 2018
0.90
3
Insufficiency of 40S ribosomal proteins, RPS26 and RPS25, negatively affects biosynthesis of polyglycine-containing proteins in fragile-X associated conditions.
PMID: 40377206
Elife · 2025
0.80
4
Toward RNA Repair of Diamond Blackfan Anemia Hematopoietic Stem Cells.
PMID: 27550323
Hum Gene Ther · 2016
0.70
5
Thrombospondin-1 in von Willebrand factor function.
PMID: 18855616
Curr Drug Targets · 2008
0.60