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GeneE
25 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.
RPS19
ribosomal protein S19
Chromosome 19 Β· 19q13.2
NCBI Gene: 6223Ensembl: ENSG00000105372.9HGNC: HGNC:10402UniProt: B0ZBD0
334PubMed Papers
21Diseases
6Drugs
81Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedHub Gene
RESEARCH IMPACT
Highly StudiedTrendingVariant-Rich
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
erythrocyte differentiationRNA bindingstructural constituent of ribosomeprotein bindingBlackfan-Diamond anemiaDiamond-Blackfan anemiainherited bone marrow failure syndromeTriphalangeal thumb
✦AI Summary

RPS19 is a structural component of the small ribosomal subunit (40S) essential for protein synthesis 1. It plays a critical role in pre-rRNA processing and maturation of ribosomal subunits, functioning as part of the small subunit (SSU) processome where it coordinates with ribosome biogenesis factors to enable RNA folding, modification, and cleavage 23. Beyond its canonical ribosomal function, RPS19 participates in intercellular signaling, notably through RPS19-C5AR1 axis interactions that mediate communication between stromal and tumor regions in colorectal cancer microenvironments 45. RPS19 dysfunction is particularly relevant to Diamond-Blackfan anemia (DBA), a rare congenital bone marrow failure disorder characterized by erythroid hypoplasia 6. RPS19 mutations account for approximately 25% of DBA cases and impair erythropoiesis through mechanisms including translational dysfunction and P53 activation 78. Recent therapeutic advances in gene therapy using lentiviral vectors targeting RPS19-deficient DBA have shown promise in restoring normal hematopoiesis 7, offering potential curative approaches for patients who become steroid-resistant or transfusion-dependent.

Sources cited
1
RPS19 is a component of the small ribosomal subunit and part of the ribosomal machinery responsible for protein synthesis
PMID: 23636399
2
RPS19 is required for pre-rRNA processing and maturation of 40S ribosomal subunits
PMID: 16990592
3
RPS19 functions as part of the SSU processome with roles in RNA folding, modifications, rearrangements and cleavage during ribosome biogenesis
PMID: 34516797
4
RPS19-C5AR1 is identified as a ligand-receptor pair playing key roles in crosstalk between stromal and tumor regions in colorectal cancer
PMID: 38729966
5
RPS19-C5AR1 signaling is part of extensive communication networks in fibrosis-related immune landscapes, including biliary atresia
PMID: 36333281
6
RPS19 gene mutations are identified in approximately 25% of Diamond-Blackfan anemia patients
PMID: 11176237
7
RPS19 deficiency contributes to disrupted erythropoiesis in DBA and gene therapy using lentiviral vectors shows promise in treating RPS19-deficient DBA
PMID: 37973818
8
RPS19 mutations account for approximately 25% of sporadic and familial Diamond-Blackfan anemia cases
PMID: 10698294
Disease Associationsβ“˜21
Blackfan-Diamond anemiaOpen Targets
0.85Strong
Diamond-Blackfan anemiaOpen Targets
0.79Strong
inherited bone marrow failure syndromeOpen Targets
0.50Moderate
influenzaOpen Targets
0.46Moderate
minimally differentiated acute myeloblastic leukemiaOpen Targets
0.46Moderate
Short thumbOpen Targets
0.46Moderate
Triphalangeal thumbOpen Targets
0.46Moderate
Duchenne muscular dystrophyOpen Targets
0.46Moderate
cystic fibrosisOpen Targets
0.39Weak
COVID-19Open Targets
0.37Weak
severe acute respiratory syndromeOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.30Weak
coronary atherosclerosisOpen Targets
0.22Weak
dementiaOpen Targets
0.14Weak
Alzheimer diseaseOpen Targets
0.11Weak
HepatoblastomaOpen Targets
0.11Weak
cystOpen Targets
0.10Weak
aniridiaOpen Targets
0.10Suggestive
Becker muscular dystrophyOpen Targets
0.10Suggestive
neoplasmOpen Targets
0.10Suggestive
Diamond-Blackfan anemia 1UniProt
Pathogenic Variants81
NM_001022.4(RPS19):c.48_49del (p.Arg16fs)Pathogenic
Diamond-Blackfan anemia 1|Diamond-Blackfan anemia
β˜…β˜…β˜†β˜†2026β†’ Residue 16
NM_001022.4(RPS19):c.280C>T (p.Arg94Ter)Pathogenic
Diamond-Blackfan anemia 1|not provided|Diamond-Blackfan anemia
β˜…β˜…β˜†β˜†2025β†’ Residue 94
NM_001022.4(RPS19):c.94G>T (p.Glu32Ter)Pathogenic
Diamond-Blackfan anemia|not provided|Diamond-Blackfan anemia 1
β˜…β˜…β˜†β˜†2025β†’ Residue 32
NM_001022.4(RPS19):c.376C>T (p.Gln126Ter)Pathogenic
Diamond-Blackfan anemia 1|Diamond-Blackfan anemia
β˜…β˜…β˜†β˜†2025β†’ Residue 126
NM_001022.4(RPS19):c.384_385del (p.Asp130fs)Pathogenic
Diamond-Blackfan anemia|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 130
NM_001022.4(RPS19):c.98G>A (p.Trp33Ter)Pathogenic
Diamond-Blackfan anemia 1|Diamond-Blackfan anemia
β˜…β˜…β˜†β˜†2025β†’ Residue 33
NM_001022.4(RPS19):c.185G>A (p.Arg62Gln)Pathogenic
Diamond-Blackfan anemia|not provided|RPS19-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 62
NM_001022.4(RPS19):c.3G>T (p.Met1Ile)Pathogenic
not provided|Diamond-Blackfan anemia|Diamond-Blackfan anemia 1
β˜…β˜…β˜†β˜†2024β†’ Residue 1
NM_001022.4(RPS19):c.302G>A (p.Arg101His)Pathogenic
not provided|Diamond-Blackfan anemia 1
β˜…β˜…β˜†β˜†2024β†’ Residue 101
NM_001022.4(RPS19):c.184C>T (p.Arg62Trp)Pathogenic
Diamond-Blackfan anemia 1|not provided|Diamond-Blackfan anemia|RPS19-related disorder
β˜…β˜…β˜†β˜†2024β†’ Residue 62
NM_001022.4(RPS19):c.3G>C (p.Met1Ile)Pathogenic
Diamond-Blackfan anemia
β˜…β˜…β˜†β˜†2024β†’ Residue 1
NM_001022.4(RPS19):c.3G>A (p.Met1Ile)Pathogenic
Diamond-Blackfan anemia
β˜…β˜…β˜†β˜†2024β†’ Residue 1
NM_001022.4(RPS19):c.412-2A>GPathogenic
Diamond-Blackfan anemia|Diamond-Blackfan anemia 1
β˜…β˜…β˜†β˜†2024
NM_001022.4(RPS19):c.385dup (p.Arg129fs)Pathogenic
Diamond-Blackfan anemia|Diamond-Blackfan anemia 1
β˜…β˜…β˜†β˜†2024β†’ Residue 129
NM_001022.4(RPS19):c.79A>T (p.Lys27Ter)Pathogenic
Diamond-Blackfan anemia|Diamond-Blackfan anemia 1
β˜…β˜…β˜†β˜†2023β†’ Residue 27
NM_001022.4(RPS19):c.406G>T (p.Gly136Ter)Pathogenic
not provided|Diamond-Blackfan anemia
β˜…β˜…β˜†β˜†2023β†’ Residue 136
NM_001022.4(RPS19):c.13dup (p.Thr5fs)Pathogenic
Diamond-Blackfan anemia
β˜…β˜…β˜†β˜†2019β†’ Residue 5
NM_001022.4(RPS19):c.335TGG[1] (p.Val113del)Likely pathogenic
not provided|Diamond-Blackfan anemia
β˜…β˜…β˜†β˜†2016β†’ Residue 113
NM_001022.4(RPS19):c.53T>C (p.Leu18Pro)Pathogenic
Diamond-Blackfan anemia
β˜…β˜†β˜†β˜†2026β†’ Residue 18
NM_001022.4(RPS19):c.172+1G>ALikely pathogenic
Diamond-Blackfan anemia
β˜…β˜†β˜†β˜†2025
View on ClinVar β†—
Drug Targets6
ATALURENApproved
80S Ribosome modulator
Duchenne muscular dystrophy
CITATUZUMAB BOGATOXPhase I
Epithelial cell adhesion molecule binding agent
ELX-02Phase II
80S Ribosome modulator
cystic fibrosis
MT-3724Phase II
80S Ribosome inhibitor
diffuse large B-cell lymphoma
TELIMOMAB ARITOXPhase II
T-cell surface glycoprotein CD5 binding agent
hepatitis B virus infection
ZOLIMOMAB ARITOXPhase II
T-cell surface glycoprotein CD5 binding agent
arthritis
Related Genes
BTF3Protein interaction100%EEF1A1Protein interaction100%EEF1DProtein interaction100%EEF1GProtein interaction100%EEF2Protein interaction100%EIF5AProtein interaction100%
Tissue Expression6 tissues
Ovary
100%
Liver
59%
Lung
55%
Bone Marrow
51%
Brain
26%
Heart
19%
Gene Interaction Network
Click a node to explore
RPS19BTF3EEF1A1EEF1DEEF1GEEF2EIF5A
PROTEIN STRUCTURE
Preparing viewer…
PDB8GLP Β· 1.67 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.24Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.05 [0.02–0.24]
RankingsWhere RPS19 stands among ~20K protein-coding genes
  • #971of 20,598
    Most Researched334 Β· top 5%
  • #775of 1,025
    FDA-Approved Drug Targets1
  • #917of 5,498
    Most Pathogenic Variants81 Β· top quartile
  • #692of 17,882
    Most Constrained (LOEUF)0.24 Β· top 5%
Genes detectedRPS19
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
Integrating spatial and single-cell transcriptomics reveals tumor heterogeneity and intercellular networks in colorectal cancer.
PMID: 38729966
Cell Death Dis Β· 2024
1.00
2
Perspectives of current understanding and therapeutics of Diamond-Blackfan anemia.
PMID: 37973818
Leukemia Β· 2024
0.90
3
Single-cell and spatial transcriptomics reveal the fibrosis-related immune landscape of biliary atresia.
PMID: 36333281
Clin Transl Med Β· 2022
0.80
4
Marrow failure.
PMID: 12446419
Hematology Am Soc Hematol Educ Program Β· 2002
0.70
5
Ten novel Diamond-Blackfan anemia mutations and three polymorphisms within the rps19 gene.
PMID: 12750732
Hematol J Β· 2003
0.64