RPS24

Summary

RPS24 (ribosomal protein S24, HGNC:10411) is a protein-coding gene on chromosome 10q22.3, encoding Small ribosomal subunit protein eS24 (P62847). Component of the small ribosomal subunit. It is a common-essential gene (DepMap: required in 100.0% of cancer cell lines) and haploinsufficient (ClinGen: sufficient evidence).

Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S24E family of ribosomal proteins. It is located in the cytoplasm. Multiple transcript variants encoding different isoforms have been found for this gene. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Mutations in this gene result in Diamond-Blackfan anemia.

Source: NCBI Gene 6229 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Diamond-Blackfan anemia (Definitive, ClinGen) — +1 more curated relationship
• GWAS associations: 3
• Clinical variants (ClinVar): 208 total — 9 pathogenic, 5 likely-pathogenic
• Phenotypes (HPO): 61
• Druggable target: yes — 1 molecules with ChEMBL bioactivity
• Cancer dependency (DepMap): dependent in 100.0% of screened cell lines (common-essential)
• Dosage sensitivity (ClinGen): haploinsufficiency sufficient evidence, triplosensitivity no evidence
• MANE Select transcript: NM_033022

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:10411
Approved symbol	RPS24
Name	ribosomal protein S24
Location	10q22.3
Locus type	gene with protein product
Status	Approved
Aliases	S24, eS24
Ensembl gene	ENSG00000138326
Ensembl biotype	protein_coding
OMIM	602412
Entrez	6229

Gene structure

Transcript identifiers

Ensembl transcripts: 26 — 16 protein_coding, 6 retained_intron, 3 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000360830, ENST00000372360, ENST00000435275, ENST00000440692, ENST00000464716, ENST00000465692, ENST00000466129, ENST00000475468, ENST00000476545, ENST00000478655, ENST00000480662, ENST00000482069, ENST00000485708, ENST00000613865, ENST00000645195, ENST00000645440, ENST00000645698, ENST00000646254, ENST00000913448, ENST00000913449, ENST00000913450, ENST00000913451, ENST00000913452, ENST00000913453, ENST00000913454, ENST00000961344

RefSeq mRNA: 6 — MANE Select: NM_033022 NM_001026, NM_001142282, NM_001142283, NM_001142284, NM_001142285, NM_033022

CCDS: CCDS44443, CCDS7355, CCDS7356, CCDS86122, CCDS86123, CCDS86124

Canonical transcript exons

ENST00000372360 — 6 exons

Exon	Start	End
ENSE00001559962	78033863	78033904
ENSE00003510001	78035352	78035417
ENSE00003545253	78040204	78040225
ENSE00003583122	78040615	78040697
ENSE00003647782	78037194	78037304
ENSE00003672081	78035511	78035720

Expression profiles

Bgee: expression breadth ubiquitous, 288 present calls, max score 99.99.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 2361.6578 / max 20222.1564, expressed in 1829 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
105672	2344.0346	1829
105674	12.8759	1671
105673	4.7473	1587

Top tissues by expression

288 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
ganglionic eminence	UBERON:0004023	99.99	gold quality
mucosa of sigmoid colon	UBERON:0004993	99.99	gold quality
colonic mucosa	UBERON:0000317	99.98	gold quality
embryo	UBERON:0000922	99.98	gold quality
mammary duct	UBERON:0001765	99.98	gold quality
cartilage tissue	UBERON:0002418	99.98	gold quality
caput epididymis	UBERON:0004358	99.98	gold quality
urethra	UBERON:0000057	99.97	gold quality
superficial temporal artery	UBERON:0001614	99.97	gold quality
trabecular bone tissue	UBERON:0002483	99.97	gold quality
ventricular zone	UBERON:0003053	99.97	gold quality
corpus epididymis	UBERON:0004359	99.97	gold quality
cauda epididymis	UBERON:0004360	99.97	gold quality
mucosa of paranasal sinus	UBERON:0005030	99.97	gold quality
penis	UBERON:0000989	99.96	gold quality
ovary	UBERON:0000992	99.96	gold quality
pylorus	UBERON:0001166	99.96	gold quality
right ovary	UBERON:0002118	99.96	gold quality
left ovary	UBERON:0002119	99.96	gold quality
pericardium	UBERON:0002407	99.96	gold quality
vena cava	UBERON:0004087	99.96	gold quality
upper arm skin	UBERON:0004263	99.96	gold quality
cortical plate	UBERON:0005343	99.96	gold quality
lower lobe of lung	UBERON:0008949	99.96	gold quality
type B pancreatic cell	CL:0000169	99.95	gold quality
oral cavity	UBERON:0000167	99.95	gold quality
mammalian vulva	UBERON:0000997	99.95	gold quality
cardia of stomach	UBERON:0001162	99.95	gold quality
mucosa of urinary bladder	UBERON:0001259	99.95	gold quality
synovial joint	UBERON:0002217	99.95	gold quality

Single-cell (SCXA)

Detected in 32 experiment(s), a significant marker in 11.

Experiment	Marker?	Max mean expression
E-MTAB-9221	yes	6302.57
E-CURD-122	yes	5239.30
E-CURD-88	yes	51.80
E-CURD-112	yes	36.07
E-HCAD-9	yes	32.01
E-MTAB-9067	yes	28.74
E-MTAB-10042	yes	16.75
E-MTAB-7316	yes	15.20
E-GEOD-137537	yes	6.46
E-HCAD-35	yes	5.30
E-HCAD-4	no	8472.88
E-HCAD-1	no	8092.83
E-GEOD-124263	no	7613.48
E-MTAB-10287	no	7201.38
E-MTAB-7407	no	7153.12

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): STAT1

Functional genomics

ClinGen dosage: haploinsufficiency 3 (sufficient evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map DepMap (CRISPR cell-line fitness): dependent in 100.0% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 10)

• Cells from Diamond-Blackfan anemia patients carrying mutations in RPS24 have defective pre-rRNA maturation, as in the case of RPS19 mutations. (PMID:18230666)
• Primary fibroblasts from Diamond-Blackfan anemia patients with truncating mutations in RPS19 or in RPS24 have a marked reduction in proliferative capacity. (PMID:19689926)
• findings suggest that two rare heterozygous truncating variations (RPS24 Q191X and CD300LF P261fsX266) are risk candidates for autism spectrum disorder. (PMID:25601189)
• RPS24 gene may be a promising biomarker for therapy in human colon cancer and may have a potential application in the diagnosis or treatment of human colon cancer. (PMID:26149657)
• The results show that RPS19, RPS21 or RPS24 are upregulated in malignant tissue and may serve as putative biomarkers for prostate cancer. (PMID:29016636)
• Three functional variants were identified to affect RPS24 expression and significantly associated with risk of colorectal cancer. (PMID:31642979)
• RPS24c Isoform Facilitates Tumor Angiogenesis Via Promoting the Stability of MVIH in Colorectal Cancer. (PMID:31797757)
• Downregulated long intergenic non-coding RNA 00,174 represses malignant biological behaviors of lung cancer cells by regulating microRNA-584-3p/ribosomal protein S24 axis. (PMID:35451652)
• Autophagy-dependent alternative splicing of ribosomal protein S24 produces a more stable isoform that aids in hypoxic cell survival. (PMID:38281767)
• RPS24 alternative splicing is a marker of cancer progression and epithelial-mesenchymal transition. (PMID:38853173)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	rps24	ENSDARG00000039347
rattus_norvegicus		ENSRNOG00000088739
drosophila_melanogaster	RpS24	FBGN0261596
caenorhabditis_elegans		WBGENE00044789

Protein

Protein identifiers

Small ribosomal subunit protein eS24 — P62847 (reviewed: P62847)

Alternative names: 40S ribosomal protein S24

All UniProt accessions (5): P62847, A0A2R8Y849, A0A2R8Y8A0, A0A2R8YD14, E7ETK0

UniProt curated annotations — full annotation on UniProt →

Function. Component of the small ribosomal subunit. The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell. Required for processing of pre-rRNA and maturation of 40S ribosomal subunits. Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. During the assembly of the SSU processome in the nucleolus, many ribosome biogenesis factors, an RNA chaperone and ribosomal proteins associate with the nascent pre-rRNA and work in concert to generate RNA folding, modifications, rearrangements and cleavage as well as targeted degradation of pre-ribosomal RNA by the RNA exosome.

Subunit / interactions. Component of the small ribosomal subunit. Part of the small subunit (SSU) processome, composed of more than 70 proteins and the RNA chaperone small nucleolar RNA (snoRNA) U3.

Subcellular location. Cytoplasm. Nucleus. Nucleolus.

Tissue specificity. Mature tissues, such as adult brain, skeletal muscle, heart, and kidney, express low levels, whereas tissues and organs with significant populations of proliferating cells, such as fetal brain, placenta, bone marrow, and various glandular organs, contain significantly higher levels.

Disease relevance. Diamond-Blackfan anemia 3 (DBA3) [MIM:610629] An autosomal dominant form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of developing leukemia. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the eukaryotic ribosomal protein eS24 family.

Isoforms (4)

UniProt ID	Names	Canonical?
P62847-1	1	yes
P62847-2	2
P62847-3	3
P62847-4	4

RefSeq proteins (6): NP_001017, NP_001135754, NP_001135755, NP_001135756, NP_001135757, NP_148982* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001976	Ribosomal_eS24	Family
IPR012678	Ribosomal_uL23/eL15/eS24_sf	Homologous_superfamily
IPR018098	Ribosomal_eS24_CS	Conserved_site
IPR053709	eRP_eS24_sf	Homologous_superfamily

Pfam: PF01282

UniProt features (23 total): strand 6, helix 6, splice variant 3, turn 2, modified residue 2, chain 1, region of interest 1, compositionally biased region 1, cross-link 1

Structure

Experimental structures (PDB)

214 structures, top 30 by resolution.

PDB	Method	Resolution (Å)
8GLP	ELECTRON MICROSCOPY	1.67
8QOI	ELECTRON MICROSCOPY	1.9
9O3W	ELECTRON MICROSCOPY	1.9
8YOO	ELECTRON MICROSCOPY	2
9C3H	ELECTRON MICROSCOPY	2
7R4X	ELECTRON MICROSCOPY	2.15
9I2D	ELECTRON MICROSCOPY	2.19
9PBE	ELECTRON MICROSCOPY	2.19
8YOP	ELECTRON MICROSCOPY	2.2
9O3V	ELECTRON MICROSCOPY	2.2
9O3Y	ELECTRON MICROSCOPY	2.2
8JDK	ELECTRON MICROSCOPY	2.26
8G5Y	ELECTRON MICROSCOPY	2.29
9S3D	ELECTRON MICROSCOPY	2.32
9RPV	ELECTRON MICROSCOPY	2.35
9S3B	ELECTRON MICROSCOPY	2.38
8K2C	ELECTRON MICROSCOPY	2.4
8XSX	ELECTRON MICROSCOPY	2.4
9SPF	ELECTRON MICROSCOPY	2.4
9SPI	ELECTRON MICROSCOPY	2.4
8JDL	ELECTRON MICROSCOPY	2.42
9S3C	ELECTRON MICROSCOPY	2.42
9QLO	ELECTRON MICROSCOPY	2.47
9P8B	ELECTRON MICROSCOPY	2.48
7XNY	ELECTRON MICROSCOPY	2.5
8JDJ	ELECTRON MICROSCOPY	2.5
9RUC	ELECTRON MICROSCOPY	2.5
8G60	ELECTRON MICROSCOPY	2.54
8IFE	ELECTRON MICROSCOPY	2.57
9P7D	ELECTRON MICROSCOPY	2.57

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P62847-F1	89.04	0.67

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (3): 1, 9, 37

Function

Pathways and Gene Ontology

Reactome pathways

50 pathways

ID	Pathway
R-HSA-156827	L13a-mediated translational silencing of Ceruloplasmin expression
R-HSA-156902	Peptide chain elongation
R-HSA-1799339	SRP-dependent cotranslational protein targeting to membrane
R-HSA-192823	Viral mRNA Translation
R-HSA-2408557	Selenocysteine synthesis
R-HSA-6791226	Major pathway of rRNA processing in the nucleolus and cytosol
R-HSA-72649	Translation initiation complex formation
R-HSA-72689	Formation of a pool of free 40S subunits
R-HSA-72695	Formation of the ternary complex, and subsequently, the 43S complex
R-HSA-72702	Ribosomal scanning and start codon recognition
R-HSA-72706	GTP hydrolysis and joining of the 60S ribosomal subunit
R-HSA-72764	Eukaryotic Translation Termination
R-HSA-9010553	Regulation of expression of SLITs and ROBOs
R-HSA-9633012	Response of EIF2AK4 (GCN2) to amino acid deficiency
R-HSA-9735869	SARS-CoV-1 modulates host translation machinery
R-HSA-9754678	SARS-CoV-2 modulates host translation machinery
R-HSA-975956	Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC)
R-HSA-975957	Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)
R-HSA-9954714	PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA
R-HSA-9954716	ZNF598 and the Ribosome-associated Quality Trigger (RQT) complex dissociate a ribosome stalled on a no-go mRNA
R-HSA-1266738	Developmental Biology
R-HSA-1430728	Metabolism
R-HSA-156842	Eukaryotic Translation Elongation
R-HSA-1643685	Disease
R-HSA-168255	Influenza Infection
R-HSA-168273	Influenza Viral RNA Transcription and Replication
R-HSA-2262752	Cellular responses to stress
R-HSA-2408522	Selenoamino acid metabolism
R-HSA-376176	Signaling by ROBO receptors
R-HSA-392499	Metabolism of proteins

MSigDB gene sets: 360 (showing top): GOBP_CYTOPLASMIC_TRANSLATION, GOBP_RIBOSOME_BIOGENESIS, GRUETZMANN_PANCREATIC_CANCER_DN, GOBP_MYELOID_CELL_HOMEOSTASIS, MODULE_151, GNF2_TPT1, GCM_NPM1, MORF_UBE2I, GOBP_ERYTHROCYTE_HOMEOSTASIS, GOBP_TRANSLATION, GCM_PSME1, MARTINEZ_RB1_TARGETS_DN, GOBP_RIBOSOMAL_SMALL_SUBUNIT_BIOGENESIS, GOMF_STRUCTURAL_CONSTITUENT_OF_RIBOSOME, DODD_NASOPHARYNGEAL_CARCINOMA_UP

GO Biological Process (5): cytoplasmic translation (GO:0002181), rRNA processing (GO:0006364), translation (GO:0006412), erythrocyte homeostasis (GO:0034101), ribosomal small subunit biogenesis (GO:0042274)

GO Molecular Function (3): RNA binding (GO:0003723), structural constituent of ribosome (GO:0003735), translation initiation factor binding (GO:0031369)

GO Cellular Component (14): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), endoplasmic reticulum (GO:0005783), cytosol (GO:0005829), small ribosomal subunit (GO:0015935), membrane (GO:0016020), cytosolic ribosome (GO:0022626), cytosolic small ribosomal subunit (GO:0022627), small-subunit processome (GO:0032040), nucleolus (GO:0005730), ribosome (GO:0005840), ribosomal subunit (GO:0044391), ribonucleoprotein complex (GO:1990904)

Reactome top-level categories

Rollup of top-14 pathways:

Category	Pathways
Cap-dependent Translation Initiation	4
Translation	2
Nonsense-Mediated Decay (NMD)	2
Ribosome-associated quality control	2
Eukaryotic Translation Initiation	1
Eukaryotic Translation Elongation	1
Influenza Viral RNA Transcription and Replication	1
Selenoamino acid metabolism	1
rRNA processing in the nucleus and cytosol	1
Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S	1
Signaling by ROBO receptors	1
Cellular response to starvation	1
SARS-CoV-1-host interactions	1
SARS-CoV-2-host interactions	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
ribosome	3
ribosome biogenesis	2
intracellular membrane-bounded organelle	2
nuclear lumen	2
cytoplasm	2
intracellular membraneless organelle	2
translation	1
RNA processing	1
rRNA metabolic process	1
peptidyltransferase activity	1
translational initiation	1
translational elongation	1
translational termination	1
macromolecule biosynthetic process	1
protein metabolic process	1
protein biosynthetic process	1
myeloid cell homeostasis	1
ribonucleoprotein complex biogenesis	1
nucleic acid binding	1
structural molecule activity	1
protein binding	1
intracellular anatomical structure	1
endomembrane system	1
ribosomal subunit	1
cytosol	1
small ribosomal subunit	1
cytosolic ribosome	1
nucleolus	1
preribosome	1
t-UTP complex	1
nuclear protein-containing complex	1
ribonucleoprotein complex	1
protein-containing complex	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

259 interactions, top by confidence:

A	B	Type	Score
MAP3K14	CHUK	psi-mi:“MI:0914”(association)	0.950
YBX1	HNRNPR	psi-mi:“MI:0914”(association)	0.770
N	HNRNPR	psi-mi:“MI:0914”(association)	0.730
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
DCC	NTN1	psi-mi:“MI:0914”(association)	0.700
RACK1	RPS17	psi-mi:“MI:0915”(physical association)	0.610
MAPT	KIF2A	psi-mi:“MI:0914”(association)	0.530
N	NOP56	psi-mi:“MI:0914”(association)	0.530
N	RBM47	psi-mi:“MI:0914”(association)	0.530
GATA2	BANF1	psi-mi:“MI:0914”(association)	0.530
DDX6	MCRIP1	psi-mi:“MI:0914”(association)	0.510
CFTR	CNOT1	psi-mi:“MI:0914”(association)	0.480
FUS	DDX3X	psi-mi:“MI:0914”(association)	0.430
ACTB	DDX3X	psi-mi:“MI:0915”(physical association)	0.400
STK17B	RPS24	psi-mi:“MI:0915”(physical association)	0.370
PAH	RPS24	psi-mi:“MI:0915”(physical association)	0.370
RPS24	PNISR	psi-mi:“MI:0915”(physical association)	0.370
Nup188	RPS3	psi-mi:“MI:0914”(association)	0.350
Rpl35	RPS6	psi-mi:“MI:0914”(association)	0.350
Cbx1		psi-mi:“MI:0914”(association)	0.350
Eif3a	RPSA	psi-mi:“MI:0914”(association)	0.350
RPL10	RPS6	psi-mi:“MI:0914”(association)	0.350
Srp72		psi-mi:“MI:0914”(association)	0.350
Rrbp1	PIPSL	psi-mi:“MI:0914”(association)	0.350
NOP56	C12orf43	psi-mi:“MI:0914”(association)	0.350
HNRNPU		psi-mi:“MI:0914”(association)	0.350
Ktn1	ESYT2	psi-mi:“MI:0914”(association)	0.350

BioGRID (715): RPS24 (Affinity Capture-MS), RPS24 (Affinity Capture-MS), RPS24 (Affinity Capture-MS), RPS24 (Affinity Capture-MS), RPS24 (Affinity Capture-MS), RPS24 (Affinity Capture-MS), RPS24 (Affinity Capture-MS), RPS24 (Affinity Capture-MS), RPS24 (Affinity Capture-MS), RPS24 (Affinity Capture-MS), RPS24 (Affinity Capture-MS), RPS24 (Affinity Capture-MS), RPS24 (Affinity Capture-MS), RPS24 (Affinity Capture-MS), RPS24 (Affinity Capture-MS)

ESM2 similar proteins: A0A5F9D2E6, A1XQU3, O13784, O42387, O43395, O59865, P02377, P12001, P16149, P21533, P35980, P47911, P62847, P62848, P62849, P62850, P69090, P69091, P82915, Q2HJ41, Q2KIA6, Q2YDN6, Q2YGT9, Q3T0U2, Q4R5H5, Q56JU9, Q58DQ3, Q5E973, Q5EAV6, Q5R5F1, Q5RAQ8, Q5REY4, Q5XGS8, Q5ZJ85, Q6Y263, Q8LC83, Q90YQ0, Q90YU3, Q922U1, Q943Z6

Diamond homologs: A0A5F9D2E6, C6A0F5, O13784, O42387, O59865, P02377, P0CU28, P0CX31, P0CX32, P14249, P58746, P62847, P62848, P62849, P62850, Q2FS46, Q4R5H5, Q56JU9, Q5A7K0, Q5JIY8, Q5RAQ8, Q75K27, Q8LC83, Q8U442, Q90YQ0, Q962Q6, Q9SS17, Q9UY20, Q9W6X9, A0B8S8, A4FZ58, A4WKS9, A4YIV8, A5UJM1, A6US52, A6UTQ0, A6VJ77, A8A953, A9A6J0, B6YW35

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
RPS24	“form complex”	“40S cytosolic small ribosomal subunit”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 175 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Eukaryotic Translation Initiation	7	17.7×	3e-06
Cap-dependent Translation Initiation	7	17.7×	3e-06
SARS-CoV-1 modulates host translation machinery	7	17.7×	3e-06
Formation of the ternary complex, and subsequently, the 43S complex	10	17.7×	6e-09
Ribosomal scanning and start codon recognition	11	17.2×	1e-09
Eukaryotic Translation Elongation	7	16.0×	5e-06
Translation initiation complex formation	10	15.6×	2e-08
Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S	7	15.6×	6e-06

GO biological processes:

GO term	Partners	Fold	FDR
cytoplasmic translation	17	20.7×	5e-15
stress granule assembly	5	19.8×	6e-04
translational initiation	7	16.5×	4e-05
ribosomal large subunit biogenesis	5	14.6×	2e-03
negative regulation of translation	11	14.2×	1e-07
mRNA stabilization	5	12.1×	5e-03
ribosomal small subunit biogenesis	8	12.0×	6e-05
intrinsic apoptotic signaling pathway	5	11.8×	5e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

208 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	9
Likely pathogenic	5
Uncertain significance	78
Likely benign	78
Benign	14

Top pathogenic / likely-pathogenic (14)

Variant ID	HGVS	Classification
1754419	NM_033022.4(RPS24):c.66_67del (p.Gln22fs)	Pathogenic
2698487	NM_033022.4(RPS24):c.292G>T (p.Glu98Ter)	Pathogenic
4730502	NM_033022.4(RPS24):c.192dup (p.Gly65fs)	Pathogenic
549764	NM_033022.4(RPS24):c.148A>C (p.Thr50Pro)	Pathogenic
662877	NM_033022.4(RPS24):c.13_14del (p.Val5fs)	Pathogenic
7245	NM_033022.4(RPS24):c.316C>T (p.Gln106Ter)	Pathogenic
7246	NM_033022.4(RPS24):c.46C>T (p.Arg16Ter)	Pathogenic
7247	NM_033022.4(RPS24):c.4_6delinsTACGGATAG (p.Asn2delinsTyrGlyTer)	Pathogenic
831866	NC_000010.11:g.(?78033902)(78033914_?)del	Pathogenic
1162257	NM_033022.4(RPS24):c.157del (p.Asp53fs)	Likely pathogenic
1180779	NM_033022.4(RPS24):c.69+1G>T	Likely pathogenic
1796034	NM_033022.4(RPS24):c.279+5G>T	Likely pathogenic
2504586	NM_033022.4(RPS24):c.273del (p.Ala92fs)	Likely pathogenic
3765329	NM_033022.4(RPS24):c.64C>T (p.Gln22Ter)	Likely pathogenic

SpliceAI

688 predictions. Top by Δscore:

Variant	Effect	Δscore
10:78035346:TTTCA:T	acceptor_loss	1.0000
10:78035347:TTCAG:T	acceptor_loss	1.0000
10:78035348:TCAG:T	acceptor_loss	1.0000
10:78035349:CAGA:C	acceptor_loss	1.0000
10:78035350:A:AC	acceptor_loss	1.0000
10:78035350:A:AG	acceptor_gain	1.0000
10:78035350:AGAAC:A	acceptor_gain	1.0000
10:78035351:G:A	acceptor_loss	1.0000
10:78035351:G:GC	acceptor_gain	1.0000
10:78035351:GA:G	acceptor_gain	1.0000
10:78035351:GAA:G	acceptor_gain	1.0000
10:78035351:GAAC:G	acceptor_gain	1.0000
10:78035351:GAACG:G	acceptor_gain	1.0000
10:78035414:AATG:A	donor_gain	1.0000
10:78035415:ATG:A	donor_gain	1.0000
10:78035415:ATGGT:A	donor_loss	1.0000
10:78035416:TG:T	donor_gain	1.0000
10:78035416:TGG:T	donor_loss	1.0000
10:78035417:GG:G	donor_gain	1.0000
10:78035418:G:GG	donor_gain	1.0000
10:78035418:GTAA:G	donor_loss	1.0000
10:78035419:T:G	donor_loss	1.0000
10:78035423:G:GT	donor_gain	1.0000
10:78035509:A:AG	acceptor_gain	1.0000
10:78035509:AG:A	acceptor_gain	1.0000
10:78035510:G:GG	acceptor_gain	1.0000
10:78035510:GG:G	acceptor_gain	1.0000
10:78035510:GGTC:G	acceptor_gain	1.0000
10:78035510:GGTCA:G	acceptor_gain	1.0000
10:78035598:G:GT	donor_gain	1.0000

AlphaMissense

854 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:78035377:G:T	R10I	1.000
10:78035407:G:C	R20T	1.000
10:78035407:G:T	R20M	1.000
10:78035408:G:C	R20S	1.000
10:78035408:G:T	R20S	1.000
10:78035613:T:C	F58L	1.000
10:78035615:T:A	F58L	1.000
10:78035615:T:G	F58L	1.000
10:78035631:T:C	F64L	1.000
10:78035633:T:A	F64L	1.000
10:78035633:T:G	F64L	1.000
10:78035635:G:A	G65D	1.000
10:78035635:G:T	G65V	1.000
10:78035647:C:T	T69I	1.000
10:78035652:G:C	G71R	1.000
10:78035653:G:A	G71D	1.000
10:78035655:T:C	F72L	1.000
10:78035657:T:A	F72L	1.000
10:78035657:T:G	F72L	1.000
10:78035658:G:C	G73R	1.000
10:78035659:G:A	G73D	1.000
10:78037253:A:C	R113S	1.000
10:78037253:A:T	R113S	1.000
10:78037269:G:T	G119W	1.000
10:78037270:G:A	G119E	1.000
10:78035370:C:A	R8S	0.999
10:78035377:G:C	R10T	0.999
10:78035378:A:C	R10S	0.999
10:78035378:A:T	R10S	0.999
10:78035382:T:C	F12L	0.999

dbSNP variants (sampled 300 via entrez): RS1000008038 (10:78043706 C>G), RS1000008423 (10:78055872 C>T), RS1000079968 (10:78054663 A>G), RS1000307044 (10:78034136 A>C,G), RS1000356305 (10:78044970 G>A), RS1000483107 (10:78039557 A>G), RS1000584941 (10:78050736 A>G), RS1000616476 (10:78033999 C>G,T), RS1000825155 (10:78041068 G>A,C), RS1000885658 (10:78040405 A>C), RS1001178190 (10:78040791 A>G), RS1001215724 (10:78045082 G>T), RS1001219681 (10:78036583 T>C), RS1001373938 (10:78031919 C>A,T), RS1001451610 (10:78035079 C>A,G,T)

Disease associations

OMIM: gene MIM:602412 | disease phenotypes: MIM:610629, MIM:105650

GenCC curated gene-disease

Disease	Classification	Inheritance
Diamond-Blackfan anemia	Definitive	Unknown
Diamond-Blackfan anemia 3	Definitive	Autosomal dominant

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
Diamond-Blackfan anemia	Definitive	AD

Mondo (2): Diamond-Blackfan anemia 3 (MONDO:0012529), Diamond-Blackfan anemia (MONDO:0015253)

Orphanet (1): Diamond-Blackfan anemia (Orphanet:124)

HPO phenotypes

61 total (30 of 61 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000047	Hypospadias
HP:0000085	Horseshoe kidney
HP:0000104	Renal agenesis
HP:0000119	Abnormality of the genitourinary system
HP:0000185	Cleft soft palate
HP:0000218	High palate
HP:0000234	Abnormality of the head
HP:0000252	Microcephaly
HP:0000286	Epicanthus
HP:0000294	Low anterior hairline
HP:0000316	Hypertelorism
HP:0000347	Micrognathia
HP:0000369	Low-set ears
HP:0000431	Wide nasal bridge
HP:0000465	Webbed neck
HP:0000470	Short neck
HP:0000486	Strabismus
HP:0000508	Ptosis
HP:0000519	Developmental cataract
HP:0000912	Sprengel anomaly
HP:0000980	Pallor
HP:0001087	Developmental glaucoma
HP:0001199	Triphalangeal thumb
HP:0001227	Abnormality of the thenar eminence
HP:0001254	Lethargy
HP:0001510	Growth delay
HP:0001518	Small for gestational age
HP:0001627	Abnormal heart morphology
HP:0001629	Ventricular septal defect

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST006479_25	Diverticular disease	9.000000e-06
GCST009305_16	California verbal learning test score	2.000000e-06
GCST009391_577	Metabolite levels	9.000000e-06

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0009959	diverticular disease
EFO:0004874	memory performance
EFO:0021604	hypoxanthine measurement

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D029503	Anemia, Diamond-Blackfan	C15.378.050.085.080.090; C15.378.050.750.500; C15.378.190.223.500.500.090; C16.320.077.090
C536355	Anemia, Diamond-Blackfan, 3 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (2): CHEMBL3987582 (PROTEIN NUCLEIC-ACID COMPLEX), CHEMBL6067563 (SINGLE PROTEIN)

Molecules with ChEMBL bioactivity

1 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds).

Molecule	Name	Phase	Patents
CHEMBL6067484	GENTAMICIN SULFATE	4

PharmGKB: 1 entry (VIP=true, CPIC=false)

ChEMBL bioactivities

50 potent at pChembl≥5 of 54 total, top 49 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
6.52	IC50	300	nM	CHEMBL4109308
6.50	Kd	313.9	nM	CHEMBL5653589
6.50	ED50	313.9	nM	CHEMBL5653589
6.45	Kd	357.4	nM	CHEMBL3752910
6.45	ED50	357.4	nM	CHEMBL3752910
6.42	IC50	380	nM	CHEMBL4109308
6.42	IC50	380	nM	CHEMBL4574496
6.41	IC50	390	nM	CHEMBL4126894
6.39	IC50	410	nM	CHEMBL4114159
6.35	IC50	450	nM	CHEMBL4126496
6.30	IC50	500	nM	CHEMBL4574496
6.30	IC50	500	nM	CHEMBL4560206
6.16	IC50	690	nM	CHEMBL4130157
6.15	IC50	710	nM	CHEMBL4108338
6.11	IC50	780	nM	CHEMBL4114159
6.09	IC50	820	nM	CHEMBL4109308
6.07	IC50	850	nM	CHEMBL4107559
6.07	IC50	850	nM	CHEMBL4533299
6.05	IC50	900	nM	CHEMBL4126894
6.05	IC50	900	nM	CHEMBL4126496
6.04	IC50	920	nM	CHEMBL4554909
5.97	IC50	1060	nM	CHEMBL4128388
5.89	IC50	1290	nM	CHEMBL4130157
5.86	IC50	1370	nM	CHEMBL4107559
5.84	IC50	1440	nM	CHEMBL4108338
5.81	IC50	1540	nM	CHEMBL4534859
5.76	IC50	1730	nM	CHEMBL4534859
5.69	IC50	2050	nM	CHEMBL4566239
5.68	IC50	2080	nM	CHEMBL4446635
5.66	IC50	2210	nM	CHEMBL4446635
5.66	EC50	2200	nM	CHEMBL4464929
5.64	IC50	2270	nM	CHEMBL4533299
5.63	IC50	2330	nM	CHEMBL4566239
5.62	IC50	2380	nM	CHEMBL4128388
5.58	IC50	2630	nM	CHEMBL4128250
5.55	IC50	2820	nM	CHEMBL4127458
5.53	IC50	2970	nM	CHEMBL4127311
5.51	IC50	3080	nM	CHEMBL4126072
5.46	IC50	3500	nM	CHEMBL4525277
5.44	IC50	3630	nM	CHEMBL4469712
5.39	IC50	4100	nM	CHEMBL4128560
5.37	IC50	4300	nM	CHEMBL4127016
5.36	IC50	4380	nM	CHEMBL4527910
5.16	IC50	7000	nM	CHEMBL4109308
5.13	IC50	7400	nM	CHLORAMPHENICOL SULFATE SALT
5.09	IC50	8040	nM	CHEMBL4128250
5.08	IC50	8370	nM	CHEMBL4128250
5.03	IC50	9320	nM	CHEMBL4127016
5.03	IC50	9240	nM	CHEMBL4128560

PubChem BioAssay actives

48 with measured affinity, of 209 total; 28 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
N-(3-chloro-2-pyridinyl)-N-[(3R)-piperidin-3-yl]-4-(triazolo[4,5-b]pyridin-3-yl)benzamide	1585498: Binding affinity to 80S ribosome in human HuH7 cells expressing human C-terminal V5/6-His-tagged PCSK9 assessed as inhibition of PCSK9 secretion after 16 to 24 hrs by AlphaLISA method	ic50	0.3000	uM
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2149297: Binding affinity to human RPS24 incubated for 45 mins by Kinobead based pull down assay	kd	0.3139	uM
4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2149297: Binding affinity to human RPS24 incubated for 45 mins by Kinobead based pull down assay	kd	0.3574	uM
N-(3-chloro-2-pyridinyl)-N-[(3R)-piperidin-3-yl]-3-[4-(triazolo[4,5-b]pyridin-3-yl)phenyl]propanamide	1532845: Binding affinity to 80S ribosome in human HuH7 cells harboring human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay	ic50	0.3800	uM
N-isoquinolin-1-yl-N-[(3R)-piperidin-3-yl]-4-(triazolo[4,5-b]pyridin-3-yl)benzamide	1497947: Binding affinity to 80S ribosome in human HuH7 cells harboring pCMV-truncated human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay	ic50	0.3900	uM
N-(3-chloro-2-pyridinyl)-4-(6-methyltriazolo[4,5-b]pyridin-3-yl)-N-[(3R)-piperidin-3-yl]benzamide	1497947: Binding affinity to 80S ribosome in human HuH7 cells harboring pCMV-truncated human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay	ic50	0.4100	uM
N-(3-chloro-2-pyridinyl)-4-(5-methyltriazolo[4,5-b]pyridin-3-yl)-N-[(3R)-piperidin-3-yl]benzamide	1497947: Binding affinity to 80S ribosome in human HuH7 cells harboring pCMV-truncated human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay	ic50	0.4500	uM
N-(1-methylpyrrolo[2,3-c]pyridin-7-yl)-4-phenyl-N-[(3R)-piperidin-3-yl]piperidine-1-carboxamide	1532846: Binding affinity to 80S ribosome in human HeLa cells lysates using human full length PCSK9 encoding mRNAs assessed as inhibition of PCSK9 mRNA translation after 45 mins by Steady-Glo luciferase reporter gene assay	ic50	0.5000	uM
N-isoquinolin-1-yl-N-[(3R)-piperidin-3-yl]-4-pyrazolo[1,5-a]pyrimidin-3-ylbenzamide	1497947: Binding affinity to 80S ribosome in human HuH7 cells harboring pCMV-truncated human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay	ic50	0.6900	uM
N-(3-chloro-2-pyridinyl)-N-[(3R)-piperidin-3-yl]-5-(triazolo[4,5-b]pyridin-3-yl)pyridine-2-carboxamide	1497947: Binding affinity to 80S ribosome in human HuH7 cells harboring pCMV-truncated human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay	ic50	0.7100	uM
N-(3-chloro-2-pyridinyl)-3-[5-(6-methyltriazolo[4,5-b]pyridin-3-yl)-2-pyridinyl]-N-[(3R)-piperidin-3-yl]propanamide	1532845: Binding affinity to 80S ribosome in human HuH7 cells harboring human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay	ic50	0.8500	uM
N-(3-chloro-2-pyridinyl)-5-(6-methyltriazolo[4,5-b]pyridin-3-yl)-N-[(3R)-piperidin-3-yl]pyridine-2-carboxamide	1497947: Binding affinity to 80S ribosome in human HuH7 cells harboring pCMV-truncated human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay	ic50	0.8500	uM
N-(3-methyl-2-pyridinyl)-N-[(3R)-piperidin-3-yl]-4-pyrazolo[1,5-a]pyrimidin-3-ylpiperidine-1-carboxamide	1532846: Binding affinity to 80S ribosome in human HeLa cells lysates using human full length PCSK9 encoding mRNAs assessed as inhibition of PCSK9 mRNA translation after 45 mins by Steady-Glo luciferase reporter gene assay	ic50	0.9200	uM
N-isoquinolin-1-yl-4-(1-methylpyrazol-4-yl)-N-[(3R)-piperidin-3-yl]benzamide	1497947: Binding affinity to 80S ribosome in human HuH7 cells harboring pCMV-truncated human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay	ic50	1.0600	uM
N-isoquinolin-1-yl-4-phenyl-N-[(3R)-piperidin-3-yl]piperidine-1-carboxamide	1532846: Binding affinity to 80S ribosome in human HeLa cells lysates using human full length PCSK9 encoding mRNAs assessed as inhibition of PCSK9 mRNA translation after 45 mins by Steady-Glo luciferase reporter gene assay	ic50	1.5400	uM
N-(3-methyl-2-pyridinyl)-4-phenyl-N-[(3R)-piperidin-3-yl]piperidine-1-carboxamide	1532845: Binding affinity to 80S ribosome in human HuH7 cells harboring human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay	ic50	2.0500	uM
N-(3-chloro-2-pyridinyl)-4-phenyl-N-[(3R)-piperidin-3-yl]piperidine-1-carboxamide	1532846: Binding affinity to 80S ribosome in human HeLa cells lysates using human full length PCSK9 encoding mRNAs assessed as inhibition of PCSK9 mRNA translation after 45 mins by Steady-Glo luciferase reporter gene assay	ic50	2.0800	uM
N-(5,8-dihydroisoquinolin-1-yl)-3-(4-methoxyphenyl)-N-[(3R)-piperidin-3-yl]propanamide	1584424: Inhibition of human 80S ribosome-mediated PCSK9 translation expressed in CHO-K1 cells assessed as reduction in PCSK9 secretion	ec50	2.2000	uM
N-isoquinolin-1-yl-3-(4-methoxyphenyl)-N-[(3R)-piperidin-3-yl]propanamide	1497947: Binding affinity to 80S ribosome in human HuH7 cells harboring pCMV-truncated human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay	ic50	2.6300	uM
N-(3-chloro-2-pyridinyl)-4-(6-methylpyrazin-2-yl)-N-[(3R)-piperidin-3-yl]benzamide	1497963: Binding affinity to 80S ribosome in human HuH7 cells assessed as inhibition of PCSK9 mRNA translation after overnight incubation by ELISA	ic50	2.8200	uM
N-(3-chloro-2-pyridinyl)-4-[6-(dimethylamino)pyrazin-2-yl]-N-[(3R)-piperidin-3-yl]benzamide	1497963: Binding affinity to 80S ribosome in human HuH7 cells assessed as inhibition of PCSK9 mRNA translation after overnight incubation by ELISA	ic50	2.9700	uM
N-(3-chloro-2-pyridinyl)-4-[6-(methylamino)pyrazin-2-yl]-N-[(3R)-piperidin-3-yl]benzamide	1497963: Binding affinity to 80S ribosome in human HuH7 cells assessed as inhibition of PCSK9 mRNA translation after overnight incubation by ELISA	ic50	3.0800	uM
N-isoquinolin-1-yl-4-(6-methyl-1,2-benzoxazol-3-yl)-N-[(3R)-piperidin-3-yl]piperazine-1-carboxamide	1532845: Binding affinity to 80S ribosome in human HuH7 cells harboring human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay	ic50	3.5000	uM
N-(3-methylpyrazin-2-yl)-4-phenyl-N-[(3R)-piperidin-3-yl]piperidine-1-carboxamide	1532846: Binding affinity to 80S ribosome in human HeLa cells lysates using human full length PCSK9 encoding mRNAs assessed as inhibition of PCSK9 mRNA translation after 45 mins by Steady-Glo luciferase reporter gene assay	ic50	3.6300	uM
N-(3-chloro-2-pyridinyl)-N-[(3R)-piperidin-3-yl]-6-(triazolo[4,5-b]pyridin-3-yl)pyridine-3-carboxamide	1497947: Binding affinity to 80S ribosome in human HuH7 cells harboring pCMV-truncated human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay	ic50	4.1000	uM
N-isoquinolin-1-yl-N-[(3R)-piperidin-3-yl]-4-pyrazin-2-ylbenzamide	1497947: Binding affinity to 80S ribosome in human HuH7 cells harboring pCMV-truncated human PCSK9 (1 to 152 residues)-proLuc assessed as inhibition of PCSK9 mRNA translation after overnight incubation by luciferase reporter gene assay	ic50	4.3000	uM
4-(2-fluorophenyl)-N-(3-methyl-2-pyridinyl)-N-[(3R)-piperidin-3-yl]piperidine-1-carboxamide	1532846: Binding affinity to 80S ribosome in human HeLa cells lysates using human full length PCSK9 encoding mRNAs assessed as inhibition of PCSK9 mRNA translation after 45 mins by Steady-Glo luciferase reporter gene assay	ic50	4.3800	uM
2,2-dichloro-N-[(1R,2R)-1,3-dihydroxy-1-(4-nitrophenyl)propan-2-yl]acetamide;sulfuric acid	717551: Inhibition of mitochondrial ribosome-mediated protein synthesis in human HeLa cells assessed as {35S]methionine incorporation by autoradiography	ic50	7.4000	uM

CTD chemical–gene interactions

50 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression	7
bisphenol A	affects expression, decreases expression, increases expression	6
sodium arsenite	affects binding, decreases reaction, decreases expression, affects cotreatment, increases abundance (+1 more)	4
trichostatin A	increases expression, affects cotreatment	3
Cadmium Chloride	decreases expression, increases expression	3
Particulate Matter	decreases expression, increases abundance, increases expression	3
entinostat	increases expression, affects cotreatment	2
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression, increases expression	2
Air Pollutants	affects expression, increases abundance, decreases expression	2
Arsenic	decreases expression, increases abundance, affects cotreatment, increases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
aristolochic acid I	decreases expression	1
bisphenol F	increases expression	1
TAK-243	increases sumoylation	1
triphenyl phosphate	affects expression	1
deoxynivalenol	increases expression	1
pyrogallol 1,3-dimethyl ether	affects cotreatment, affects localization, increases expression	1
arsenite	affects binding, increases reaction	1
methylparaben	decreases expression	1
potassium chromate(VI)	increases expression	1
arsenic trichloride	decreases expression, increases abundance, affects cotreatment	1
chromium hexavalent ion	increases expression	1
perfluoro-n-nonanoic acid	decreases expression	1
bisphenol B	increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
bisphenol S	increases expression	1
LDN 193189	affects cotreatment, decreases expression	1
bisphenol AF	increases expression	1
Vorinostat	increases expression	1
Panobinostat	increases expression	1

ChEMBL screening assays

90 unique, capped per target: 90 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL1920845	Binding	Induction of ribosome to readthrough in human A-T lymphoblastoid cells assessed as ATM ser1981 autophosphorylation at 30 uM after 4 days by PTT-ELISA assay	Synthesis and evaluation of compounds that induce readthrough of premature termination codons. — Bioorg Med Chem Lett

Clinical trials (associated diseases)

38 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT00673608	PHASE4	COMPLETED	Magnetic Resonance Imaging (MRI) Assessments of the Heart and Liver Iron Load in Patients With Transfusion Induced Iron Overload
NCT00235391	PHASE3	COMPLETED	Expanded Access of Deferasirox to Patients With Congenital Disorders of Red Blood Cells and Chronic Iron Overload
NCT00001962	PHASE2	TERMINATED	A Study to Determine Whether Therapy With Daclizumab Will Benefit Patients With Bone Marrow Failure
NCT00011505	PHASE2	COMPLETED	Mobilization of Stem Cells With G-CSF for Collection From Patients With Diamond-Blackfan Anemia
NCT00301834	PHASE2	COMPLETED	Alemtuzumab, Fludarabine, and Busulfan Followed By Donor Stem Cell Transplant in Treating Young Patients With Hematologic Disorders
NCT00957931	PHASE2	COMPLETED	Allo-HCT MUD for Non-malignant Red Blood Cell (RBC) Disorders: Sickle Cell, Thal, and DBA: Reduced Intensity Conditioning, Co-tx MSCs
NCT01529827	PHASE2	COMPLETED	Fludarabine Phosphate, Melphalan, and Low-Dose Total-Body Irradiation Followed by Donor Peripheral Blood Stem Cell Transplant in Treating Patients With Hematologic Malignancies
NCT02386267	PHASE2	UNKNOWN	L-leucine in Diamond Blackfan Anemia Patients
NCT02512679	PHASE2	TERMINATED	Related Hematopoietic Stem Cell Transplantation (HSCT) for Genetic Diseases of Blood Cells
NCT03333486	PHASE2	TERMINATED	Fludarabine Phosphate, Cyclophosphamide, Total Body Irradiation, and Donor Stem Cell Transplant in Treating Patients With Blood Cancer
NCT04099966	PHASE2	RECRUITING	AlloSCT for Malignant and Non-malignant Hematologic Diseases Utilizing Alpha/Beta T Cell and CD19+ B Cell Depletion
NCT04965597	PHASE2	COMPLETED	Treosulfan-Based Conditioning Regimen Before a Blood or Bone Marrow Transplant for the Treatment of Bone Marrow Failure Diseases (BMT CTN 1904)
NCT01586455	PHASE1	COMPLETED	Human Placental-Derived Stem Cell Transplantation
NCT01917708	PHASE1	COMPLETED	Bone Marrow Transplant With Abatacept for Non-Malignant Diseases
NCT00176852	PHASE2/PHASE3	COMPLETED	Stem Cell Transplant for Hemoglobinopathy
NCT00176878	PHASE2/PHASE3	COMPLETED	Stem Cell Transplant for Bone Marrow Failure Syndromes
NCT00305708	PHASE1/PHASE2	COMPLETED	Busulfan, Antithymocyte Globulin, and Fludarabine Followed By a Donor Stem Cell Transplant in Treating Young Patients With Blood Disorders, Bone Marrow Disorders, Chronic Myelogenous Leukemia in First Chronic Phase, or Acute Myeloid Leukemia in First Remission
NCT01362595	PHASE1/PHASE2	COMPLETED	Pilot Phase I/II Study of Amino Acid Leucine in Treatment of Patients With Transfusion-Dependent Diamond Blackfan Anemia
NCT01419704	PHASE1/PHASE2	WITHDRAWN	Phase I/II Pilot Study of Mixed Chimerism to Treat Hemoglobinopathies
NCT01464164	PHASE1/PHASE2	TERMINATED	Safety and Efficacy Study of Sotatercept in Adults With Transfusion Dependent Diamond Blackfan Anemia
NCT01966367	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	CD34+ (Non-Malignant) Stem Cell Selection for Patients Receiving Allogeneic Stem Cell Transplantation
NCT02065869	PHASE1/PHASE2	TERMINATED	Safety Study of Gene Modified Donor T-cells Following TCRαβ+ Depleted Stem Cell Transplant
NCT03513328	PHASE1/PHASE2	COMPLETED	Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell Transplantation
NCT03653338	PHASE1/PHASE2	RECRUITING	T-Cell Depleted Alternative Donor Bone Marrow Transplant for Sickle Cell Disease (SCD) and Other Anemias
NCT03733249	PHASE1/PHASE2	TERMINATED	Long Term Follow-up Study for Patients Enrolled on the BP-004 Clinical Study
NCT03966053	PHASE1/PHASE2	TERMINATED	The Use of Trifluoperazine in Transfusion Dependent DBA
NCT00027274	Not specified	RECRUITING	Cancer in Inherited Bone Marrow Failure Syndromes
NCT00244010	Not specified	COMPLETED	Partially Matched Stem Cell Transplantation for Patients With Refractory Severe Aplastic Anemia or Refractory Cytopenias
NCT00290628	Not specified	TERMINATED	Donor Umbilical Cord Blood Transplant in Treating Patients With Hematologic Cancer
NCT01114776	Not specified	COMPLETED	Multi-Center Study of Iron Overload: Pilot Study
NCT01319851	Not specified	TERMINATED	Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation
NCT01758042	Not specified	COMPLETED	Bone Marrow and Kidney Transplant for Patients With Chronic Kidney Disease and Blood Disorders
NCT01913548	Not specified	COMPLETED	Multi-Center Study of Iron Overload: Survey Study (MCSIO)
NCT02179359	Not specified	TERMINATED	Hematopoietic Stem Cell Transplant for High Risk Hemoglobinopathies
NCT02720679	Not specified	RECRUITING	Investigation of the Genetics of Hematologic Diseases
NCT03050268	Not specified	RECRUITING	Familial Investigations of Childhood Cancer Predisposition
NCT05687474	Not specified	COMPLETED	Baby Detect : Genomic Newborn Screening
NCT07186179	Not specified	RECRUITING	Mobilization of CD34+ Peripheral Blood Stem Cells in Patients With Diamond Blackfan Anemia Syndrome (DBAS)