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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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RPS29
ribosomal protein S29
Chromosome 14 Β· 14q21.3
NCBI Gene: 6235Ensembl: ENSG00000213741.11HGNC: HGNC:10419UniProt: A0A087WTT6
126PubMed Papers
21Diseases
6Drugs
4Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedHub Gene
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
structural constituent of ribosomezinc ion bindingcytoplasmic translationendoplasmic reticulumBlackfan-Diamond anemiaDiamond-Blackfan anemiainfluenzaminimally differentiated acute myeloblastic leukemia
✦AI Summary

RPS29 is a structural component of the small 40S ribosomal subunit essential for protein synthesis and ribosome biogenesis 1. The protein functions in rRNA processing and maintains accurate ribosomal translation in cells 12. RPS29 also contains zinc-binding capacity and localizes to the cytoplasm, endoplasmic reticulum, and nucleoplasm where it contributes to translation regulation. Germ-line mutations in RPS29 cause Diamond-Blackfan anemia (DBA-13), a cancer-prone inherited bone marrow failure syndrome affecting erythroid differentiation 1. Two distinct mutations (p.I31F and p.I50T) identified in DBA families result in haploinsufficiency and defective pre-rRNA processing, leading to erythropoiesis failure in zebrafish models 13. The RPS29-dependent p53 pathway appears central to DBA pathophysiology, with calmodulin inhibitors showing therapeutic promise by attenuating p53 activity in patient cells 3. Beyond DBA, RPS29 downregulation occurs in amyotrophic lateral sclerosis motor neurons, where it suppresses pathological protein translation and maintains levels of the essential neuronal protein STMN2, suggesting a quality control role 2. RPS29 transcription is also directly targeted for suppression by the tumor suppressor POGK in triple-negative breast cancer, contributing to growth inhibition 4. These findings establish RPS29 as a critical ribosomal protein with disease relevance spanning hematologic, neurologic, and malignant conditions.

Sources cited
1
RPS29 mutations cause Diamond-Blackfan anemia; p.I31F and p.I50T mutations cause haploinsufficiency, defective rRNA processing, and erythropoiesis failure
PMID: 24829207
2
RPS29 is downregulated in ALS; required for maintaining ribosome profiling, accurate translation, and suppressing pathological translation; maintains STMN2 levels
PMID: 40775435
3
RPS29 mutations in DBA cause p53-dependent anemia; calmodulin inhibitors rescue phenotypes by attenuating p53 activity
PMID: 33087503
4
POGK directly blocks RPS29 transcription in triple-negative breast cancer, causing ribosomal biogenesis restriction and tumor growth suppression
PMID: 39481384
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
Blackfan-Diamond anemiaOpen Targets
0.74Strong
Diamond-Blackfan anemiaOpen Targets
0.60Moderate
influenzaOpen Targets
0.46Moderate
minimally differentiated acute myeloblastic leukemiaOpen 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
myeloid leukemiaOpen Targets
0.25Weak
genetic disorderOpen Targets
0.20Weak
type 1 diabetes nephropathyOpen Targets
0.19Weak
Abnormality of the gastrointestinal tractOpen Targets
0.12Weak
autoimmune disorder of musculoskeletal systemOpen Targets
0.12Weak
corneal neovascularizationOpen Targets
0.12Weak
Alzheimer diseaseOpen Targets
0.12Weak
liver diseaseOpen Targets
0.12Weak
lagophthalmosOpen Targets
0.12Weak
aniridiaOpen Targets
0.10Suggestive
Becker muscular dystrophyOpen Targets
0.10Suggestive
non-Hodgkins lymphomaOpen Targets
0.09Suggestive
Diamond-Blackfan anemia 13UniProt
Pathogenic Variants4
NM_001032.5(RPS29):c.149T>C (p.Ile50Thr)Likely pathogenic
Diamond-Blackfan anemia 13
β˜…β˜†β˜†β˜†2019β†’ Residue 50
NM_001032.5(RPS29):c.63-3C>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2017
NM_001032.5(RPS29):c.73T>C (p.Ser25Pro)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2016β†’ Residue 25
NM_001032.5(RPS29):c.91A>T (p.Ile31Phe)Pathogenic
Diamond-Blackfan anemia 13
β˜†β˜†β˜†β˜†2014β†’ Residue 31
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
RPL22Shared pathway100%RPL36ALProtein interaction100%RPS10Protein interaction100%RPS18Protein interaction100%RPL26L1Protein interaction100%RPL22L1Protein interaction100%
Tissue Expression6 tissues
Ovary
100%
Bone Marrow
77%
Liver
59%
Lung
57%
Brain
47%
Heart
26%
Gene Interaction Network
Click a node to explore
RPS29RPL22RPL36ALRPS10RPS18RPL26L1RPL22L1
PROTEIN STRUCTURE
Preparing viewer…
PDB8GLP Β· 1.67 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.31Highly Constrained
pLIβ“˜
0.98Intolerant
Observed/Expected LoF0.00 [0.00–0.31]
RankingsWhere RPS29 stands among ~20K protein-coding genes
  • #3,743of 20,598
    Most Researched126 Β· top quartile
  • #924of 1,025
    FDA-Approved Drug Targets1
  • #3,725of 5,498
    Most Pathogenic Variants4
  • #1,204of 17,882
    Most Constrained (LOEUF)0.31 Β· top 10%
Genes detectedRPS29
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families.
PMID: 24829207
Blood Β· 2014
1.00
2
Machine learning-based proteomics profiling of ALS identifies downregulation of RPS29 that maintains protein homeostasis and STMN2 level.
PMID: 40775435
Commun Biol Β· 2025
0.90
3
Tumor-suppressive activities for pogo transposable element derived with KRAB domain via ribosome biogenesis restriction.
PMID: 39481384
Mol Cell Β· 2024
0.80
4
GWA meta-analysis of personality in Korean cohorts.
PMID: 25994864
J Hum Genet Β· 2015
0.70
5
The liver-specific long noncoding RNA FAM99B inhibits ribosome biogenesis and cancer progression through cleavage of dead-box Helicase 21.
PMID: 39952918
Cell Death Dis Β· 2025
0.60