RPS26

Summary

RPS26 (ribosomal protein S26, HGNC:10414) is a protein-coding gene on chromosome 12q13.2, encoding Small ribosomal subunit protein eS26 (P62854). Component of the small ribosomal subunit. It is haploinsufficient (ClinGen: sufficient evidence).

This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S26E family of ribosomal proteins. Mutations in this gene are found in Diamond-Blackfan anemia 10. There are multiple processed pseudogenes of this gene dispersed through the genome.

Source: NCBI Gene 6231 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Diamond-Blackfan anemia 10 (Definitive, GenCC) — +1 more curated relationship
• GWAS associations: 22
• Clinical variants (ClinVar): 188 total — 22 pathogenic, 8 likely-pathogenic
• Phenotypes (HPO): 82
• Druggable target: yes — 1 molecules with ChEMBL bioactivity
• Dosage sensitivity (ClinGen): haploinsufficiency sufficient evidence, triplosensitivity no evidence
• MANE Select transcript: NM_001029

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:10414
Approved symbol	RPS26
Name	ribosomal protein S26
Location	12q13.2
Locus type	gene with protein product
Status	Approved
Aliases	S26, eS26
Ensembl gene	ENSG00000197728
Ensembl biotype	protein_coding
OMIM	603701
Entrez	6231

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 4 protein_coding, 1 retained_intron

ENST00000356464, ENST00000548590, ENST00000552361, ENST00000646449, ENST00000925486

RefSeq mRNA: 1 — MANE Select: NM_001029 NM_001029

CCDS: CCDS31832

Canonical transcript exons

ENST00000646449 — 4 exons

Exon	Start	End
ENSE00001283785	56043363	56043493
ENSE00001424213	56042425	56042602
ENSE00003826907	56041918	56042169
ENSE00003832070	56044119	56044697

Expression profiles

Bgee: expression breadth ubiquitous, 140 present calls, max score 99.77.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 29.5372 / max 952.8712, expressed in 1806 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
126047	18.5642	1768
126049	9.9312	1772
126048	0.5490	317
126046	0.3764	181
126045	0.1164	58

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
granulocyte	CL:0000094	99.77	gold quality
left adrenal gland cortex	UBERON:0035825	99.65	gold quality
mucosa of transverse colon	UBERON:0004991	99.63	gold quality
mucosa of stomach	UBERON:0001199	99.62	gold quality
right ovary	UBERON:0002118	99.61	gold quality
right adrenal gland cortex	UBERON:0035827	99.61	gold quality
left adrenal gland	UBERON:0001234	99.59	gold quality
right uterine tube	UBERON:0001302	99.58	gold quality
right adrenal gland	UBERON:0001233	99.57	gold quality
adenohypophysis	UBERON:0002196	99.54	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	99.53	gold quality
left uterine tube	UBERON:0001303	99.49	gold quality
body of pancreas	UBERON:0001150	99.47	gold quality
adrenal gland	UBERON:0002369	99.43	gold quality
transverse colon	UBERON:0001157	99.40	gold quality
right lung	UBERON:0002167	99.40	gold quality
rectum	UBERON:0001052	99.37	gold quality
lymph node	UBERON:0000029	99.36	gold quality
skin of abdomen	UBERON:0001416	99.36	gold quality
small intestine Peyer’s patch	UBERON:0003454	99.36	gold quality
body of stomach	UBERON:0001161	99.35	gold quality
esophagus mucosa	UBERON:0002469	99.35	gold quality
right coronary artery	UBERON:0001625	99.34	gold quality
body of uterus	UBERON:0009853	99.34	gold quality
zone of skin	UBERON:0000014	99.29	gold quality
smooth muscle tissue	UBERON:0001135	99.29	gold quality
pituitary gland	UBERON:0000007	99.28	gold quality
muscle layer of sigmoid colon	UBERON:0035805	99.28	gold quality
esophagus	UBERON:0001043	99.27	gold quality
skin of leg	UBERON:0001511	99.27	gold quality

Single-cell (SCXA)

Detected in 44 experiment(s), a significant marker in 18.

Experiment	Marker?	Max mean expression
E-MTAB-11011	yes	7342.41
E-MTAB-8142	yes	5854.61
E-MTAB-9221	yes	5668.88
E-HCAD-36	yes	5037.63
E-MTAB-6653	yes	4761.92
E-GEOD-149689	yes	4618.83
E-HCAD-8	yes	4365.85
E-MTAB-10553	yes	3855.98
E-CURD-88	yes	2042.05
E-MTAB-6701	yes	119.00
E-HCAD-5	yes	48.87
E-MTAB-9067	yes	25.39
E-GEOD-135922	yes	25.31
E-ANND-3	yes	19.23
E-CURD-112	yes	16.73

Regulation

Is transcription factor: no

Functional genomics

ClinGen dosage: haploinsufficiency 3 (sufficient evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 15)

• Ribosomal protein binding with the first intron of the human rpS26 pre-mRNA stimulates its interaction with proteins extracted from Hela cells (PMID:12068637)
• Human recombinant ribosomal protein S26 (rpS26) was shown to interact with its pre-mRNA intron I and mRNA fragment. (PMID:15716004)
• Mutations in the RPS10 and RPS26 genes in DBA patients affect the function of the proteins in rRNA processing. (PMID:20116044)
• the Czech Diamond-Blackfan Anemia(DBA) Registry comprises patients with mutations in five different RPs: RPS 19,5,26,11,17, together amounting to 67.3% of resolved cases, and making RPS26 the third most mutated gene in Czech DBA patients. (PMID:21414820)
• Studies identified deletions at known Diamond-Blackfan anemia (DBA)-related ribosomal protein gene loci in 17% (9 of 51) of patients without an identifiable mutation, including RPS19, RPS17, RPS26, and RPL35A. (PMID:22045982)
• High frequency of RPS26 gene deletion is associated with Italian Diamond-Blackfan anemia. (PMID:22689679)
• RPS26 acts distinctively in different scenarios of p53 activation. (PMID:23728348)
• Suggest that for nuclear export, nucleophosmin could directly bind to pre-40S subunits in the mRNA exit site region where the C-terminus of eS26 is located. (PMID:29563070)
• eS26-ESS and Tsr2 are components of a nuclear sorting system that co-evolved with the emergence of the nucleocytoplasmic barrier and transport carriers (PMID:30201955)
• A novel insert mutation c.96dupG in RPS26 was identified by whole-exome sequencing, which caused neonatal DBA in a Chinese boy. This is the first case report of a Chinese DBA10 patient who carries a small insertion in the RPS26 gene. These findings expand the mutation diversity of RPS26 and demonstrate the clinical presentations of the Chinese DBA10 patient. (PMID:31277601)
• The final step of 40S ribosomal subunit maturation is controlled by a dual key lock. (PMID:33908345)
• Mendelian Randomization Analysis Identified Potential Genes Pleiotropically Associated with Polycystic Ovary Syndrome. (PMID:34704236)
• The functional role of the eukaryote-specific motif YxxPKxYxK of the human ribosomal protein eS26 in translation. (PMID:35817369)
• Identification of novel mutations in patients with Diamond-Blackfan anemia and literature review of RPS10 and RPS26 mutations. (PMID:37376976)
• Association of RPS26 gene polymorphism with different types of diabetes in Chinese individuals. (PMID:38041572)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	rps26l	ENSDARG00000030408
danio_rerio	rps26	ENSDARG00000037071
rattus_norvegicus	Rps26l6	ENSRNOG00000051310
drosophila_melanogaster	RpS26	FBGN0261597
caenorhabditis_elegans	rps-26	WBGENE00004495

Protein

Protein identifiers

Small ribosomal subunit protein eS26 — P62854 (reviewed: P62854)

Alternative names: 40S ribosomal protein S26

All UniProt accessions (1): P62854

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.

Subunit / interactions. Component of the 40S small ribosomal subunit.

Subcellular location. Cytoplasm. Cytosol. Rough endoplasmic reticulum.

Disease relevance. Diamond-Blackfan anemia 10 (DBA10) [MIM:613309] 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 malignancy. 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 eS26 family.

RefSeq proteins (1): NP_001020* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000892	Ribosomal_eS26	Family
IPR038551	Ribosomal_eS26_sf	Homologous_superfamily
IPR047864	Ribosomal_eS26_CS	Conserved_site

Pfam: PF01283

UniProt features (20 total): strand 5, turn 3, helix 3, sequence variant 2, sequence conflict 2, initiator methionine 1, chain 1, region of interest 1, compositionally biased region 1, modified residue 1

Structure

Experimental structures (PDB)

190 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-P62854-F1	86.09	0.55

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 (1): 54

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: 415 (showing top): GOBP_CYTOPLASMIC_TRANSLATION, MODULE_52, BASSO_B_LYMPHOCYTE_NETWORK, GOBP_NEGATIVE_REGULATION_OF_RNA_SPLICING, HSIAO_HOUSEKEEPING_GENES, MODULE_16, GOBP_TRANSLATION, GOMF_STRUCTURAL_CONSTITUENT_OF_RIBOSOME, GOBP_RNA_SPLICING, MODULE_18, MODULE_60, DANG_BOUND_BY_MYC, MODULE_29, GOERING_BLOOD_HDL_CHOLESTEROL_QTL_CIS, GOBP_REGULATION_OF_RNA_SPLICING

GO Biological Process (3): cytoplasmic translation (GO:0002181), translation (GO:0006412), negative regulation of RNA splicing (GO:0033119)

GO Molecular Function (5): RNA binding (GO:0003723), mRNA binding (GO:0003729), structural constituent of ribosome (GO:0003735), cadherin binding (GO:0045296), protein binding (GO:0005515)

GO Cellular Component (14): nucleoplasm (GO:0005654), cytoplasm (GO:0005737), cytosol (GO:0005829), ribosome (GO:0005840), small ribosomal subunit (GO:0015935), membrane (GO:0016020), cytosolic small ribosomal subunit (GO:0022627), synapse (GO:0045202), extracellular exosome (GO:0070062), cytoplasmic side of rough endoplasmic reticulum membrane (GO:0098556), endoplasmic reticulum (GO:0005783), rough endoplasmic reticulum (GO:0005791), cytosolic ribosome (GO:0022626), 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	2
cytoplasm	2
translation	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
RNA splicing	1
negative regulation of gene expression	1
regulation of RNA splicing	1
nucleic acid binding	1
RNA binding	1
structural molecule activity	1
cell adhesion molecule binding	1
binding	1
nuclear lumen	1
intracellular anatomical structure	1
intracellular membraneless organelle	1
ribosomal subunit	1
small ribosomal subunit	1
cytosolic ribosome	1
cell junction	1
extracellular vesicle	1
rough endoplasmic reticulum membrane	1
cytoplasmic side of endoplasmic reticulum membrane	1
endomembrane system	1
intracellular membrane-bounded organelle	1
endoplasmic reticulum	1
cytosol	1
protein-containing complex	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

250 interactions, top by confidence:

A	B	Type	Score
MAP3K14	CHUK	psi-mi:“MI:0914”(association)	0.950
TSR2	RPS26	psi-mi:“MI:0915”(physical association)	0.880
RPS26	TSR2	psi-mi:“MI:0915”(physical association)	0.880
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
RACK1	RPS17	psi-mi:“MI:0915”(physical association)	0.610
OTX2	RPS26	psi-mi:“MI:0915”(physical association)	0.560
SDCBP	RPS26	psi-mi:“MI:0915”(physical association)	0.560
MAPT	KIF2A	psi-mi:“MI:0914”(association)	0.530
UBE3A	HERC2	psi-mi:“MI:0914”(association)	0.500
CFTR	CNOT1	psi-mi:“MI:0914”(association)	0.480
ESR1		psi-mi:“MI:0914”(association)	0.460
ESR2	FBLL1	psi-mi:“MI:0914”(association)	0.460
FUS	DDX3X	psi-mi:“MI:0914”(association)	0.430
NDRG1	RPS26	psi-mi:“MI:0915”(physical association)	0.400
	GNAT3	psi-mi:“MI:0915”(physical association)	0.400
RPS26	E7	psi-mi:“MI:0915”(physical association)	0.370

BioGRID (579): TSR2 (Two-hybrid), RPS26 (Affinity Capture-MS), RPS26 (Affinity Capture-MS), RPS26 (Affinity Capture-MS), TSR2 (Two-hybrid), ARID4B (Co-fractionation), ARID4B (Co-fractionation), RPL10A (Co-fractionation), RPL10A (Co-fractionation), RPL12 (Co-fractionation), RPL12 (Co-fractionation), RPL15 (Co-fractionation), RPL15 (Co-fractionation), RPL23A (Co-fractionation), RPL23A (Co-fractionation)

ESM2 similar proteins: A5JSS2, A6H769, E2RKA8, G1SHQ2, G1SNY0, G1SQH0, G1SVB0, O09167, O14602, P12749, P14115, P18445, P20280, P30742, P41567, P46776, P46778, P47813, P47832, P49171, P49666, P61251, P61254, P61255, P61256, P61257, P62081, P62082, P62083, P62854, P62855, P62856, P62910, P62911, P62912, Q3SZQ6, Q4R723, Q56JV1, Q56K03, Q5E938

Diamond homologs: G1TFE8, O45499, O93931, P13008, P21772, P27085, P30742, P39938, P39939, P41692, P41959, P49171, P49206, P49216, P61251, P62854, P62855, P62856, Q54TL8, Q56JV1, Q5ALV6, Q5JNZ5, Q6Q312, Q8LPJ7, Q8SRN2, Q9BHU1, Q9GT45, Q9LYK9, Q9UT56, Q9UTG4

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
RPS26	“form complex”	“40S cytosolic small ribosomal subunit”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 152 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
Formation of the ternary complex, and subsequently, the 43S complex	8	15.2×	2e-06
Ribosomal scanning and start codon recognition	9	15.2×	3e-07
SRP-dependent cotranslational protein targeting to membrane	17	15.1×	3e-13
GTP hydrolysis and joining of the 60S ribosomal subunit	17	15.1×	3e-13
Formation of a pool of free 40S subunits	15	14.9×	9e-12
L13a-mediated translational silencing of Ceruloplasmin expression	16	14.3×	3e-12
Eukaryotic Translation Termination	13	13.8×	8e-10
Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC)	13	13.5×	9e-10

GO biological processes:

GO term	Partners	Fold	FDR
formation of cytoplasmic translation initiation complex	5	41.0×	2e-05
stress granule assembly	5	22.0×	3e-04
cytoplasmic translation	16	21.6×	2e-14
translational initiation	8	20.9×	1e-06
ribosomal large subunit biogenesis	5	16.2×	1e-03
stem cell population maintenance	5	15.4×	2e-03
mRNA stabilization	5	13.4×	2e-03
negative regulation of translation	9	12.9×	8e-06

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	22
Likely pathogenic	8
Uncertain significance	58
Likely benign	75
Benign	13

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1076796	NM_001029.5(RPS26):c.9_12del (p.Lys4fs)	Pathogenic
1765045	NM_001029.5(RPS26):c.88del (p.Val30fs)	Pathogenic
1798678	NM_001029.5(RPS26):c.2T>C (p.Met1Thr)	Pathogenic
187849	NM_001029.5(RPS26):c.259C>T (p.Arg87Ter)	Pathogenic
187850	NM_001029.5(RPS26):c.4-2A>T	Pathogenic
2027475	NM_001029.5(RPS26):c.78_79del (p.Ala27fs)	Pathogenic
2697519	NM_001029.5(RPS26):c.4-1_6del	Pathogenic
3232371	NM_001029.5(RPS26):c.19_25dup (p.Gly9fs)	Pathogenic
3358915	NM_001029.5(RPS26):c.82C>T (p.Arg28Ter)	Pathogenic
3643952	NM_001029.5(RPS26):c.17_20del (p.Arg6fs)	Pathogenic
3721946	NM_001029.5(RPS26):c.103del (p.Ala35fs)	Pathogenic
470476	NM_001029.5(RPS26):c.224_225del (p.Val75fs)	Pathogenic
489313	NM_001029.5(RPS26):c.219C>G (p.Tyr73Ter)	Pathogenic
598993	NM_001029.5(RPS26):c.1A>C (p.Met1Leu)	Pathogenic
6122	NM_001029.5(RPS26):c.1A>G (p.Met1Val)	Pathogenic
6123	NM_001029.5(RPS26):c.1A>T (p.Met1Leu)	Pathogenic
6124	NM_001029.5(RPS26):c.97G>A (p.Asp33Asn)	Pathogenic
6125	NM_001029.5(RPS26):c.31dup (p.Ala11fs)	Pathogenic
6126	NM_001029.5(RPS26):c.3+1G>A	Pathogenic
929406	NM_001029.5(RPS26):c.181+1del	Pathogenic
933891	NM_001029.5(RPS26):c.2T>G (p.Met1Arg)	Pathogenic
934123	NM_001029.5(RPS26):c.196A>T (p.Lys66Ter)	Pathogenic
1325016	NM_001029.5(RPS26):c.3+2T>G	Likely pathogenic
1727856	NM_001029.5(RPS26):c.312+1G>C	Likely pathogenic
1727981	NM_001029.5(RPS26):c.313-2A>G	Likely pathogenic
1787909	NM_001029.5(RPS26):c.221G>A (p.Cys74Tyr)	Likely pathogenic
2433019	NM_001029.5(RPS26):c.181+1G>A	Likely pathogenic
2690689	NM_001029.5(RPS26):c.2T>A (p.Met1Lys)	Likely pathogenic
4077475	NM_001029.5(RPS26):c.182-1G>C	Likely pathogenic
812897	NM_001029.5(RPS26):c.312+2T>A	Likely pathogenic

SpliceAI

399 predictions. Top by Δscore:

Variant	Effect	Δscore
12:56042166:GATG:G	donor_gain	1.0000
12:56042420:CGCA:C	acceptor_loss	1.0000
12:56042421:GCAG:G	acceptor_loss	1.0000
12:56042422:CAGA:C	acceptor_loss	1.0000
12:56042423:A:AG	acceptor_gain	1.0000
12:56042424:G:A	acceptor_loss	1.0000
12:56042424:G:GG	acceptor_gain	1.0000
12:56042424:GA:G	acceptor_gain	1.0000
12:56042424:GACAA:G	acceptor_gain	1.0000
12:56042599:GATG:G	donor_gain	1.0000
12:56042600:ATG:A	donor_gain	1.0000
12:56042600:ATGGT:A	donor_loss	1.0000
12:56042601:TG:T	donor_gain	1.0000
12:56042602:GG:G	donor_gain	1.0000
12:56042603:G:GG	donor_gain	1.0000
12:56042603:G:T	donor_loss	1.0000
12:56042604:T:A	donor_loss	1.0000
12:56043358:CTTA:C	acceptor_loss	1.0000
12:56043360:TA:T	acceptor_loss	1.0000
12:56043361:A:AG	acceptor_gain	1.0000
12:56043362:G:GA	acceptor_gain	1.0000
12:56043362:GC:G	acceptor_gain	1.0000
12:56043362:GCC:G	acceptor_gain	1.0000
12:56043362:GCCT:G	acceptor_gain	1.0000
12:56043362:GCCTA:G	acceptor_gain	1.0000
12:56043489:CTGCG:C	donor_gain	1.0000
12:56043490:TGCG:T	donor_gain	1.0000
12:56043490:TGCGG:T	donor_loss	1.0000
12:56043491:GCG:G	donor_gain	1.0000
12:56043491:GCGG:G	donor_gain	1.0000

AlphaMissense

742 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:56042488:T:C	C23R	1.000
12:56042519:A:T	D33V	1.000
12:56042525:C:A	A35D	1.000
12:56042528:T:A	I36N	1.000
12:56042558:A:T	E46V	1.000
12:56042567:C:A	A49E	1.000
12:56042575:G:C	D52H	1.000
12:56042576:A:C	D52A	1.000
12:56042576:A:T	D52V	1.000
12:56043414:C:A	A78E	1.000
12:56043432:T:A	V84D	1.000
12:56043435:G:C	R85T	1.000
12:56043435:G:T	R85M	1.000
12:56042435:G:C	R5T	0.999
12:56042435:G:T	R5I	0.999
12:56042438:G:T	R6M	0.999
12:56042446:G:C	G9R	0.999
12:56042447:G:A	G9D	0.999
12:56042447:G:T	G9V	0.999
12:56042467:G:C	G16R	0.999
12:56042468:G:T	G16V	0.999
12:56042488:T:A	C23S	0.999
12:56042489:G:A	C23Y	0.999
12:56042489:G:C	C23S	0.999
12:56042489:G:T	C23F	0.999
12:56042490:C:G	C23W	0.999
12:56042497:T:C	C26R	0.999
12:56042498:G:A	C26Y	0.999
12:56042498:G:T	C26F	0.999
12:56042499:T:G	C26W	0.999

dbSNP variants (sampled 300 via entrez): RS1000432413 (12:56040082 C>G,T), RS1000569422 (12:56041548 T>C), RS1002429970 (12:56041418 A>T), RS1002926309 (12:56044544 A>G), RS1003654086 (12:56040010 C>T), RS1003929122 (12:56039954 A>G), RS1004550196 (12:56041179 C>T), RS1004936086 (12:56041609 G>A), RS1005910101 (12:56042377 C>G,T), RS1007041064 (12:56045029 G>A), RS1007150564 (12:56045184 G>A,T), RS1007204149 (12:56041713 AAGGGGGGG>A), RS1008008847 (12:56040112 G>A), RS1008067637 (12:56040684 G>A), RS1008828778 (12:56043676 A>G,T)

Disease associations

OMIM: gene MIM:603701 | disease phenotypes: MIM:613309, MIM:105650, MIM:606164

GenCC curated gene-disease

Disease	Classification	Inheritance
Diamond-Blackfan anemia 10	Definitive	Autosomal dominant
Diamond-Blackfan anemia	Supportive	Autosomal dominant

Mondo (5): Diamond-Blackfan anemia 10 (MONDO:0013217), Diamond-Blackfan anemia (MONDO:0015253), Diamond-Blackfan anemia 15 with mandibulofacial dysostosis (MONDO:0011639), pure red-cell aplasia (MONDO:0001705), anemia (MONDO:0002280)

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

HPO phenotypes

82 total (30 of 82 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000047	Hypospadias
HP:0000075	Renal duplication
HP:0000085	Horseshoe kidney
HP:0000086	Ectopic kidney
HP:0000104	Renal agenesis
HP:0000119	Abnormality of the genitourinary system
HP:0000175	Cleft palate
HP:0000185	Cleft soft palate
HP:0000218	High palate
HP:0000234	Abnormality of the head
HP:0000252	Microcephaly
HP:0000272	Malar flattening
HP:0000286	Epicanthus
HP:0000294	Low anterior hairline
HP:0000316	Hypertelorism
HP:0000347	Micrognathia
HP:0000358	Posteriorly rotated ears
HP:0000365	Hearing impairment
HP:0000369	Low-set ears
HP:0000405	Conductive hearing impairment
HP:0000413	Atresia of the external auditory canal
HP:0000431	Wide nasal bridge
HP:0000453	Choanal atresia
HP:0000465	Webbed neck
HP:0000470	Short neck
HP:0000475	Broad neck
HP:0000486	Strabismus
HP:0000508	Ptosis
HP:0000519	Developmental cataract

GWAS associations

22 associations (top):

Study	Trait	p-value
GCST000834_8	Psoriasis	1.000000e-06
GCST001670_1	Vitiligo	8.000000e-12
GCST002738_1	Psoriasis	1.000000e-07
GCST002740_72	Inflammatory skin disease	4.000000e-08
GCST002774_24	Cognitive function	3.000000e-07
GCST003988_25	Hypothyroidism	8.000000e-08
GCST004166_45	Nonsyndromic cleft lip with cleft palate	1.000000e-09
GCST004367_1	Anorexia nervosa	4.000000e-09
GCST006911_22	Asthma (moderate or severe)	1.000000e-09
GCST007563_23	Allergic disease (asthma, hay fever or eczema)	4.000000e-10
GCST007564_9	Asthma or allergic disease (pleiotropy)	1.000000e-13
GCST007798_148	Asthma	8.000000e-25
GCST007799_4	Asthma (adult onset)	4.000000e-15
GCST007932_123	Medication use (thyroid preparations)	1.000000e-14
GCST007941_4	Medication use (adrenergics, inhalants)	5.000000e-17
GCST008595_119	Cognitive ability, years of educational attainment or schizophrenia (pleiotropy)	1.000000e-14
GCST008916_124	Asthma	1.000000e-16
GCST009798_45	Asthma	1.000000e-15
GCST010002_217	Refractive error	6.000000e-174
GCST010703_297	Brain morphology (MOSTest)	4.000000e-10
GCST90002388_434	Lymphocyte count	1.000000e-11
GCST90013405_25	Liver enzyme levels (alanine transaminase)	3.000000e-11

EFO canonical traits (8, from GWAS)

EFO ID	Trait name
EFO:0004337	intelligence
EFO:0003959	cleft lip
EFO:1002011	adult onset asthma
EFO:0009933	Thyroid preparation use measurement
EFO:0009941	Inhalant adrenergic use measurement
EFO:0004784	self reported educational attainment
EFO:0004346	neuroimaging measurement
EFO:0004587	lymphocyte count

MeSH disease descriptors (4)

Descriptor	Name	Tree numbers
D000740	Anemia	C15.378.050
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
D012010	Red-Cell Aplasia, Pure	C15.378.050.750
C567649	Diamond-Blackfan Anemia 10 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL3987582 (PROTEIN NUCLEIC-ACID COMPLEX)

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

46 potent at pChembl≥5 of 50 total, top 45 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
6.52	IC50	300	nM	CHEMBL4109308
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

46 with measured affinity, of 205 total; 26 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
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

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects expression, decreases expression	4
sodium arsenite	affects cotreatment, increases abundance, increases expression, affects binding, decreases reaction (+1 more)	2
Copper Sulfate	decreases expression, increases expression	2
Particulate Matter	decreases expression, increases abundance	2
2,4,6-tribromophenol	decreases expression	1
triphenyl phosphate	affects expression	1
pyrogallol 1,3-dimethyl ether	affects cotreatment, affects localization, increases expression	1
decabromobiphenyl ether	decreases expression	1
arsenite	affects binding, increases reaction	1
methylparaben	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
tetrabromobisphenol A	decreases expression	1
manganese chloride	affects cotreatment, increases abundance, increases expression	1
3-(4’-hydroxy-3’-adamantylbiphenyl-4-yl)acrylic acid	decreases expression	1
nutlin 3	affects cotreatment, increases secretion	1
bisphenol B	increases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
Grape Seed Proanthocyanidins	increases expression, affects cotreatment	1
pentabrominated diphenyl ether 100	decreases expression	1
hexabrominated diphenyl ether 153	decreases expression	1
bisphenol AF	increases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	decreases expression	1
Leflunomide	decreases expression	1
Air Pollutants	increases abundance, decreases expression	1
Air Pollutants, Occupational	decreases expression	1
Arsenic	affects cotreatment, increases abundance, increases expression	1
Benzo(a)pyrene	decreases expression	1
Caffeine	increases expression	1
Catechin	increases expression, affects cotreatment	1
Dactinomycin	affects cotreatment, increases secretion	1

ChEMBL screening assays

89 unique, capped per target: 89 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)

300 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
NCT03364764	PHASE4	COMPLETED	Sirolimus Treatment for Refractory PRCA
NCT03540472	PHASE4	UNKNOWN	Tacrolimus Treatment for Refractory PRCA
NCT03918265	PHASE4	UNKNOWN	Tacrolimus Treatment for Refractory Autoimmune Cytopenia
NCT04470804	PHASE4	COMPLETED	Sirolimus Treatment for Newly Diagnosed Primary Acquired PRCA
NCT00003398	PHASE4	COMPLETED	Bone Marrow Transplantation in Treating Patients With Hematologic Cancer
NCT00022386	PHASE4	COMPLETED	Epoetin Alfa in Treating Chemotherapy-Related Anemia in Women With Stage I, Stage II, or Stage III Breast Cancer
NCT00046969	PHASE4	COMPLETED	Epoetin Beta in Treating Anemia in Patients With Cervical Cancer
NCT00111995	PHASE4	COMPLETED	Evaluating Aranesp® for the Treatment of Anemia in African-American Subjects With Chronic Renal Failure (CRF) Receiving Hemodialysis
NCT00117039	PHASE4	COMPLETED	A Study to Evaluate the Effectiveness of Aranesp® for Cancer Patients With Anemia
NCT00117065	PHASE4	COMPLETED	Study of Transplant Related Anemia Treated With Aranesp® (STRATA)
NCT00117117	PHASE4	COMPLETED	A Study to Assess Symptom Burden in Subjects With Nonmyeloid Malignancies Receiving Chemotherapy and Aranesp®
NCT00126334	PHASE4	COMPLETED	Conservative Versus Liberal Red Cell Transfusion in Myocardial Infarction Trial: The CRIT Pilot
NCT00153868	PHASE4	COMPLETED	A Web-based Study of Quality of Life Benefits Associated Aranesp in Anemic Patients With Cancer
NCT00168948	PHASE4	UNKNOWN	Intermittent Antimalaria Treatment With SP in African Children
NCT00173706	PHASE4	UNKNOWN	Evaluation of the Effects of L-Carnitine Injection in Patients Undergoing Hemodialysis
NCT00194857	PHASE4	TERMINATED	Treatment of Anemia and Neutropenia in HIV/HCV Coinfected Patients Treated With Pegylated Interferon and Ribavirin
NCT00204334	PHASE4	COMPLETED	Effects of Anemia Correction on Vascular and Monocyte Function in Renal Transplant Recipients
NCT00206739	PHASE4	COMPLETED	Intermittent Treatment With Sulfadoxine-pyrimethamine for Malaria Control in Infants
NCT00211120	PHASE4	TERMINATED	Correction of Hemoglobin and Outcomes in Renal Insufficiency (CHOIR)
NCT00216541	PHASE4	COMPLETED	A Study of the Safety and Effectiveness of Epoetin Alfa on Hemoglobin Levels and Blood Transfusions in Cancer Patients Receiving Chemotherapy
NCT00223938	PHASE4	TERMINATED	Study of the Efficacy and Safety of Ferrlecit in the Maintenance Dosing in Hemodialysis Patients.
NCT00223964	PHASE4	COMPLETED	Study of the Efficacy of Two Doses of Ferrlecit in the Treatment of Iron Deficiency in Pediatric Hemodialysis Patients
NCT00224003	PHASE4	COMPLETED	Study of the Safety and Efficacy of Ferrlecit® Maintenance Dosing in Pediatric Hemodialysis Patients
NCT00224068	PHASE4	COMPLETED	Effect of Iron Therapy as an Adjunct to Epoetin Alfa in the Anemia of Cancer Chemotherapy
NCT00239642	PHASE4	COMPLETED	Safety and Efficacy of Iron Sucrose in Children
NCT00247507	PHASE4	UNKNOWN	The Effects of Acetylcysteine on Alleviating Damage of Oxidative Stress in Hemodialysis Patients
NCT00248716	PHASE4	UNKNOWN	Treatment of Anemia in the 2nd Year of Life. Comparison of the Efficacy of Two Different Iron Preparations.
NCT00283465	PHASE4	COMPLETED	A Study of the Effectiveness and Safety of Treatment With Epoetin Alfa on Hemoglobin Levels, Red Blood Cell Transfusions, and Quality of Life in Patients With Cancer Receiving Platinum-containing Chemotherapy
NCT00312871	PHASE4	TERMINATED	Effects of Early Correction of Anemia in Patients With Chronic Renal Insufficiency
NCT00315484	PHASE4	COMPLETED	Hematologic Response of Epoetin Alfa (PROCRIT) Versus Darbepoetin Alfa (ARANESP) in Chemotherapy Induced Anemia
NCT00317902	PHASE4	COMPLETED	An Open-Label Study to Evaluate the Effect of Every Other Week PROCRIT� (Epoetin Alfa) Dosing (40,000-60,000 Units) On Maintaining Quality of Life and Target Hemoglobin Levels in Anemic HIV-Infected Patients (CHAMPS II)
NCT00335023	PHASE4	COMPLETED	Well Being of Obstetric Patients on Minimal Blood Transfusions
NCT00338468	PHASE4	TERMINATED	A Study to Assess Disability in Anemic Elderly Patients With Kidney Disease Receiving PROCRIT (Epoetin Alfa)
NCT00377481	PHASE4	COMPLETED	COMFORT Study: A Crossover Study of NeoRecormon (Epoetin Beta) and Darbepoetin Alfa in Patients With Renal Anemia.
NCT00396435	PHASE4	COMPLETED	Correction of Anaemia and Progression of Renal Failure on Transplanted Patients
NCT00401869	PHASE4	COMPLETED	The Effect of PROCRIT (Epoetin Alfa) on Postoperative Vigor and Handgrip Strength (VIGOR Study)
NCT00413101	PHASE4	COMPLETED	A Study of NeoRecormon (Epoetin Beta) in Patients With End Stage Renal Disease.
NCT00431496	PHASE4	COMPLETED	A Study of Cinacalcet to Improve Achievement of National Kidney Foundation Kidney Disease Outcomes Quality Initiative (K/DOQI) Targets in Patients With End Stage Renal Disease (ESRD)
NCT00437723	PHASE4	COMPLETED	A Study of NeoRecormon in Patients With Chronic Kidney Disease.