RPL26

Summary

RPL26 (ribosomal protein L26, HGNC:10327) is a protein-coding gene on chromosome 17p13.1, encoding Large ribosomal subunit protein uL24 (P61254). Component of the large ribosomal subunit. It is a common-essential gene (DepMap: required in 100.0% of cancer cell lines).

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 60S subunit. The protein belongs to the L24P family of ribosomal proteins. It is located in the cytoplasm. 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. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 6154 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Diamond-Blackfan anemia 11 (Strong, GenCC) — +1 more curated relationship
• Clinical variants (ClinVar): 101 total — 3 pathogenic, 3 likely-pathogenic
• Phenotypes (HPO): 76
• Druggable target: yes — 1 molecules with ChEMBL bioactivity
• Cancer dependency (DepMap): dependent in 100.0% of screened cell lines (common-essential)
• MANE Select transcript: NM_000987

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:10327
Approved symbol	RPL26
Name	ribosomal protein L26
Location	17p13.1
Locus type	gene with protein product
Status	Approved
Aliases	L26, uL24
Ensembl gene	ENSG00000161970
Ensembl biotype	protein_coding
OMIM	603704
Entrez	6154

Gene structure

Transcript identifiers

Ensembl transcripts: 50 — 45 protein_coding, 3 retained_intron, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000578069, ENST00000578115, ENST00000578812, ENST00000582485, ENST00000582556, ENST00000583011, ENST00000583515, ENST00000584164, ENST00000584343, ENST00000584441, ENST00000584906, ENST00000585176, ENST00000648839, ENST00000851389, ENST00000851390, ENST00000851391, ENST00000851392, ENST00000851393, ENST00000851394, ENST00000913688, ENST00000913689, ENST00000913690, ENST00000913691, ENST00000913692, ENST00000913693, ENST00000913694, ENST00000913695, ENST00000913696, ENST00000913697, ENST00000913698, ENST00000913699, ENST00000913700, ENST00000913701, ENST00000913702, ENST00000913703, ENST00000913704, ENST00000913705, ENST00000913706, ENST00000913707, ENST00000913708, ENST00000913709, ENST00000913710, ENST00000913711, ENST00000913712, ENST00000913713, ENST00000913714, ENST00000942087, ENST00000942088, ENST00000942089, ENST00000942090

RefSeq mRNA: 3 — MANE Select: NM_000987 NM_000987, NM_001315530, NM_001315531

CCDS: CCDS11142

Canonical transcript exons

ENST00000648839 — 4 exons

Exon	Start	End
ENSE00001278148	8377516	8377692
ENSE00002728802	8383157	8383193
ENSE00003527039	8382143	8382315
ENSE00003572151	8379796	8379936

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 99.96.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 176.0092 / max 1837.9763, expressed in 1814 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
164431	176.0092	1814

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cortical plate	UBERON:0005343	99.96	gold quality
calcaneal tendon	UBERON:0003701	99.95	gold quality
ganglionic eminence	UBERON:0004023	99.94	gold quality
ovary	UBERON:0000992	99.92	gold quality
left ovary	UBERON:0002119	99.92	gold quality
granulocyte	CL:0000094	99.91	gold quality
monocyte	CL:0000576	99.91	gold quality
leukocyte	CL:0000738	99.91	gold quality
lymph node	UBERON:0000029	99.91	gold quality
right ovary	UBERON:0002118	99.91	gold quality
endocervix	UBERON:0000458	99.90	gold quality
corpus callosum	UBERON:0002336	99.90	gold quality
fallopian tube	UBERON:0003889	99.90	gold quality
colonic epithelium	UBERON:0000397	99.89	gold quality
rectum	UBERON:0001052	99.89	gold quality
right uterine tube	UBERON:0001302	99.89	gold quality
gall bladder	UBERON:0002110	99.89	gold quality
thoracic mammary gland	UBERON:0005200	99.89	gold quality
body of uterus	UBERON:0009853	99.89	gold quality
ectocervix	UBERON:0012249	99.89	gold quality
uterine cervix	UBERON:0000002	99.88	gold quality
islet of Langerhans	UBERON:0000006	99.88	gold quality
vagina	UBERON:0000996	99.88	gold quality
adipose tissue	UBERON:0001013	99.88	gold quality
myometrium	UBERON:0001296	99.88	gold quality
thyroid gland	UBERON:0002046	99.88	gold quality
subcutaneous adipose tissue	UBERON:0002190	99.88	gold quality
omental fat pad	UBERON:0010414	99.88	gold quality
left lobe of thyroid gland	UBERON:0001120	99.87	gold quality
smooth muscle tissue	UBERON:0001135	99.87	gold quality

Single-cell (SCXA)

Detected in 27 experiment(s), a significant marker in 11.

Experiment	Marker?	Max mean expression
E-HCAD-25	yes	922.84
E-CURD-122	yes	93.60
E-CURD-88	yes	56.86
E-MTAB-9221	yes	53.54
E-MTAB-6678	yes	36.31
E-CURD-112	yes	34.94
E-MTAB-9067	yes	26.60
E-MTAB-10042	yes	16.33
E-GEOD-137537	yes	6.09
E-HCAD-35	yes	5.55
E-GEOD-114530	no	7476.80
E-MTAB-9435	no	6365.27
E-HCAD-23	no	5574.36
E-HCAD-9	no	5385.15
E-HCAD-38	no	5375.48

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): FOXI3, MYC, STAT6

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 100.0% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 7)

• Mdm2 binds L26 and drives its polyubiquitylation and proteasomal degradation. (PMID:18951086)
• Northern Blot Together with RPL5, RPL11, and RPS7, RPL26 is the fourth RP regulating p53 activity that is linked to diamond-blackfan anemia. (PMID:22431104)
• suggest a model in which the base pairings in the p53 UTR interaction regions are critical for both translational repression and stress induction of p53 by NCL and RPL26 (PMID:22433872)
• The results showed that knockdown of RPL26 or RPL29 expression significantly suppressed cell proliferation, induced cell arrest at G0/G1 phase and enhanced cell apoptosis (PMID:22868929)
• Six1 regulates p53 via a dual mechanism involving upregulation of microRNA-27a and downregulation of RPL26. (PMID:26687066)
• In colorectal tumor cells RPL26 regulates p73 expression via two distinct mechanisms: protein stability and mRNA translation. (PMID:27825141)
• ionizing radiation (IR) inhibits the activity of SMG1, a phosphoinositide-3-kinase-like kinase family member, reducing the binding of SMG1 to a specific region near exon 9 of p53 precursor mRNA and promoting the binding of ribosomal protein L26 (RPL26) to p53 pre-mRNA (PMID:28288992)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	rpl26	ENSDARG00000102317
mus_musculus	Rpl26	ENSMUSG00000060938
rattus_norvegicus	Rpl26-ps1	ENSRNOG00000032777
drosophila_melanogaster	RpL26	FBGN0036825
caenorhabditis_elegans		WBGENE00004440

Paralogs (1): RPL26L1 (ENSG00000037241)

Protein

Protein identifiers

Large ribosomal subunit protein uL24 — P61254 (reviewed: P61254)

Alternative names: 60S ribosomal protein L26

All UniProt accessions (6): P61254, J3KS10, J3KSS0, J3QQV1, J3QRC4, J3QRI7

UniProt curated annotations — full annotation on UniProt →

Function. Component of the large ribosomal subunit. The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell.

Subunit / interactions. Component of the large ribosomal subunit. Interacts with DHX33.

Subcellular location. Cytoplasm.

Post-translational modifications. Ufmylated by UFL1 in response to endoplasmic reticulum stress, promoting reticulophagy of endoplasmic reticulum sheets.

Disease relevance. Diamond-Blackfan anemia 11 (DBA11) [MIM:614900] 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 universal ribosomal protein uL24 family.

RefSeq proteins (3): NP_000978, NP_001302459, NP_001302460 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR005756	Ribosomal_uL24_euk_arc	Family
IPR005824	KOW	Domain
IPR005825	Ribosomal_uL24_CS	Conserved_site
IPR008991	Translation_prot_SH3-like_sf	Homologous_superfamily
IPR014722	Rib_uL2_dom2	Homologous_superfamily
IPR041988	Ribosomal_uL24_KOW	Domain

Pfam: PF00467, PF16906

UniProt features (6 total): region of interest 2, chain 1, modified residue 1, cross-link 1, sequence conflict 1

Structure

Experimental structures (PDB)

197 structures, top 30 by resolution.

PDB	Method	Resolution (Å)
8A3D	ELECTRON MICROSCOPY	1.67
8GLP	ELECTRON MICROSCOPY	1.67
8QYX	ELECTRON MICROSCOPY	1.78
8QOI	ELECTRON MICROSCOPY	1.9
9O3W	ELECTRON MICROSCOPY	1.9
8YOO	ELECTRON MICROSCOPY	2
9C3H	ELECTRON MICROSCOPY	2
9I2D	ELECTRON MICROSCOPY	2.19
9PBE	ELECTRON MICROSCOPY	2.19
8QFD	ELECTRON MICROSCOPY	2.2
8YOP	ELECTRON MICROSCOPY	2.2
9GUL	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
7OW7	ELECTRON MICROSCOPY	2.4
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
8FKV	ELECTRON MICROSCOPY	2.47
9QLO	ELECTRON MICROSCOPY	2.47
8FLE	ELECTRON MICROSCOPY	2.48
9P8B	ELECTRON MICROSCOPY	2.48

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P61254-F1	92.77	0.84

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 (2): 139, 136

Function

Pathways and Gene Ontology

Reactome pathways

16 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-72689	Formation of a pool of free 40S subunits
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-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-9954709	Ribosome Quality Control (RQC) complex extracts and degrades nascent peptide
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

MSigDB gene sets: 437 (showing top): GOBP_CYTOPLASMIC_TRANSLATION, GOBP_RIBOSOME_BIOGENESIS, GOBP_RESPONSE_TO_IONIZING_RADIATION, GOBP_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY_IN_RESPONSE_TO_DNA_DAMAGE_BY_P53_CLASS_MEDIATOR, GOBP_POSITIVE_REGULATION_OF_DNA_DAMAGE_RESPONSE_SIGNAL_TRANSDUCTION_BY_P53_CLASS_MEDIATOR, GOBP_CELLULAR_RESPONSE_TO_UV, MODULE_151, BHATI_G2M_ARREST_BY_2METHOXYESTRADIOL_DN, GOBP_CELLULAR_RESPONSE_TO_LIGHT_STIMULUS, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GOBP_CELLULAR_RESPONSE_TO_GAMMA_RADIATION, GOBP_REGULATION_OF_DNA_DAMAGE_RESPONSE_SIGNAL_TRANSDUCTION_BY_P53_CLASS_MEDIATOR, GOBP_TRANSLATION, GOBP_POST_TRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION, GOBP_POSITIVE_REGULATION_OF_SIGNAL_TRANSDUCTION_BY_P53_CLASS_MEDIATOR

GO Biological Process (11): cytoplasmic translation (GO:0002181), rRNA processing (GO:0006364), translation (GO:0006412), DNA damage response, signal transduction by p53 class mediator (GO:0030330), cellular response to UV (GO:0034644), ribosomal large subunit biogenesis (GO:0042273), positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517), positive regulation of translation (GO:0045727), cellular response to gamma radiation (GO:0071480), positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167), regulation of translation involved in cellular response to UV (GO:1904803)

GO Molecular Function (4): RNA binding (GO:0003723), structural constituent of ribosome (GO:0003735), mRNA 5’-UTR binding (GO:0048027), protein binding (GO:0005515)

GO Cellular Component (11): nucleoplasm (GO:0005654), nucleolus (GO:0005730), cytoplasm (GO:0005737), cytosol (GO:0005829), membrane (GO:0016020), cytosolic large ribosomal subunit (GO:0022625), cytosolic ribosome (GO:0022626), extracellular exosome (GO:0070062), ribonucleoprotein complex (GO:1990904), ribosome (GO:0005840), large ribosomal subunit (GO:0015934)

Reactome top-level categories

Rollup of top-11 pathways:

Category	Pathways
Ribosome-associated quality control	3
Translation	2
Cap-dependent Translation Initiation	2
Nonsense-Mediated Decay (NMD)	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
Signaling by ROBO receptors	1
Cellular response to starvation	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
translation	2
ribosome biogenesis	2
regulation of translation	2
ribosome	2
nuclear lumen	2
intracellular membraneless organelle	2
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
signal transduction in response to DNA damage	1
signal transduction by p53 class mediator	1
response to UV	1
cellular response to light stimulus	1
ribonucleoprotein complex biogenesis	1
DNA damage response, signal transduction by p53 class mediator	1
regulation of DNA damage response, signal transduction by p53 class mediator	1
positive regulation of signal transduction by p53 class mediator	1
positive regulation of gene expression	1
positive regulation of protein metabolic process	1
response to gamma radiation	1
cellular response to ionizing radiation	1
intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	1
regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	1
positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage	1
positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator	1
cellular response to UV	1
nucleic acid binding	1
structural molecule activity	1
mRNA binding	1
binding	1
intracellular anatomical structure	1
cytoplasm	1
large ribosomal subunit	1

Protein interactions and networks

STRING

3949 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RPL26	MDM2	Q00987	971
RPL26	RPL5	P46777	876
RPL26	RPL11	P25121	873
RPL26	RPL31	P12947	842
RPL26	RPS19	P39019	838
RPL26	TP53	P04637	809
RPL26	RPL35	P42766	799
RPL26	RPL27	P08526	794
RPL26	RPS6	P08227	792
RPL26	RPS24	P16632	791
RPL26	RPL35A	P18077	781
RPL26	RPL6	Q02878	779
RPL26	RPL37	P02403	777
RPL26	RPL14	P50914	762
RPL26	NUCLEOLIN	P19338	758
RPL26	RPS26	P02383	758

IntAct

177 interactions, top by confidence:

A	B	Type	Score
RICTOR	MTOR	psi-mi:“MI:0914”(association)	0.970
FBL	NOP56	psi-mi:“MI:0914”(association)	0.800
XPC	CETN3	psi-mi:“MI:0914”(association)	0.730
RACK1	RPL7	psi-mi:“MI:0403”(colocalization)	0.730
DDRGK1	UFL1	psi-mi:“MI:0914”(association)	0.710
RACK1	RPS17	psi-mi:“MI:0915”(physical association)	0.610
RPS6	IPO7	psi-mi:“MI:0914”(association)	0.530
RPL37A	MPHOSPH10	psi-mi:“MI:0914”(association)	0.530
RPL30	RRP8	psi-mi:“MI:0914”(association)	0.530
RPL7	ZBTB24	psi-mi:“MI:0914”(association)	0.530
E4F1	ZBTB24	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
RPL26	RPL7	psi-mi:“MI:0914”(association)	0.530
SYNGAP1	IGF2BP3	psi-mi:“MI:0914”(association)	0.530
PA2G4	RPL35	psi-mi:“MI:0915”(physical association)	0.500
RPL26	MTOR	psi-mi:“MI:0914”(association)	0.460
KCNK16	RPL26	psi-mi:“MI:0915”(physical association)	0.400
NFATC2IP	RPL26	psi-mi:“MI:0915”(physical association)	0.400
SDC1	ILVBL	psi-mi:“MI:0915”(physical association)	0.400
RETREG1	RPL26	psi-mi:“MI:0915”(physical association)	0.370
PCNA	RPL26	psi-mi:“MI:0915”(physical association)	0.370
APLP2	RPL26	psi-mi:“MI:0915”(physical association)	0.370
MDM2	RPL26	psi-mi:“MI:0915”(physical association)	0.370
	DKC1	psi-mi:“MI:0914”(association)	0.350
Brwd3	WDR91	psi-mi:“MI:0914”(association)	0.350
Srp72		psi-mi:“MI:0914”(association)	0.350

BioGRID (525): RPL26 (Affinity Capture-Western), RPL26 (Affinity Capture-MS), RPL26 (Affinity Capture-MS), RPL26 (Affinity Capture-MS), RPL26 (Affinity Capture-MS), RPL26 (Affinity Capture-MS), RPL26 (Affinity Capture-MS), RPL26 (Affinity Capture-MS), RPL26 (Affinity Capture-MS), RPL14 (Co-fractionation), RPL15 (Co-fractionation), RPL17 (Co-fractionation), RPL26 (Co-fractionation), RPL26 (Co-fractionation), RPL26 (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: A0A1D8PCQ5, A0B9V9, A0RVY4, A1RS05, A1RWS4, A2BMD0, A2SPL3, A3DNB8, A3MWZ8, A4FWB0, A4WLL3, A4YCX7, A5UL77, A6UQ55, A6UWU9, A6VGZ6, A7I5Q0, A8ACD3, A8MB21, A9A5I4, B1L777, G1SQH0, O05633, O26122, O28365, O59429, P05743, P10972, P12749, P14034, P41960, P47832, P49629, P51414, P53221, P54038, P60663, P60746, P61254, P61255

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
MDM2	“down-regulates quantity by destabilization”	RPL26	ubiquitination
RPL26	“form complex”	“60S cytosolic large 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
SARS-CoV-1 modulates host translation machinery	7	20.2×	2e-06
Eukaryotic Translation Termination	17	19.1×	3e-15
Peptide chain elongation	16	19.0×	1e-14
Viral mRNA Translation	16	19.0×	1e-14
PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA	16	18.8×	1e-14
Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC)	17	18.7×	3e-15
Selenocysteine synthesis	16	18.0×	2e-14
Formation of a pool of free 40S subunits	17	17.8×	5e-15

GO biological processes:

GO term	Partners	Fold	FDR
cytoplasmic translation	20	28.3×	6e-21
stress granule assembly	5	23.0×	4e-04
translational initiation	6	16.4×	3e-04
rRNA processing	15	16.2×	7e-12
translation	18	14.1×	3e-13
ribosomal small subunit biogenesis	8	13.9×	3e-05
negative regulation of translation	7	10.5×	7e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	3
Likely pathogenic	3
Uncertain significance	39
Likely benign	38
Benign	8

Top pathogenic / likely-pathogenic (6)

Variant ID	HGVS	Classification
1339822	NM_000987.5(RPL26):c.341del (p.Asp114fs)	Pathogenic
2627100	NM_000987.5(RPL26):c.87del (p.Met30fs)	Pathogenic
39740	NM_000987.5(RPL26):c.120_121del (p.Lys41fs)	Pathogenic
2627098	NM_000987.5(RPL26):c.-6+3_-6+25del	Likely pathogenic
2627099	NM_000987.5(RPL26):c.-5-2A>G	Likely pathogenic
4072391	NM_000987.5(RPL26):c.36_39del (p.Ser12fs)	Likely pathogenic

SpliceAI

764 predictions. Top by Δscore:

Variant	Effect	Δscore
17:8377561:A:AC	donor_gain	1.0000
17:8377562:C:CC	donor_gain	1.0000
17:8377566:ATT:A	donor_gain	1.0000
17:8377568:T:A	donor_gain	1.0000
17:8377592:T:TA	donor_gain	1.0000
17:8379792:CTACC:C	donor_loss	1.0000
17:8379793:TACC:T	donor_loss	1.0000
17:8379794:ACC:A	donor_loss	1.0000
17:8379795:CCTTG:C	donor_gain	1.0000
17:8379933:CAAC:C	acceptor_gain	1.0000
17:8379936:CCTAA:C	acceptor_loss	1.0000
17:8379938:T:C	acceptor_loss	1.0000
17:8382139:ACACC:A	donor_loss	1.0000
17:8382140:CA:C	donor_loss	1.0000
17:8382140:CACC:C	donor_loss	1.0000
17:8382141:A:T	donor_loss	1.0000
17:8382142:C:A	donor_loss	1.0000
17:8382142:CCT:C	donor_loss	1.0000
17:8382311:TTTGG:T	acceptor_gain	1.0000
17:8382312:TTGG:T	acceptor_gain	1.0000
17:8382313:TGG:T	acceptor_gain	1.0000
17:8382314:GG:G	acceptor_gain	1.0000
17:8382315:GC:G	acceptor_loss	1.0000
17:8382316:C:CC	acceptor_gain	1.0000
17:8382316:CTAA:C	acceptor_loss	1.0000
17:8383045:T:TA	donor_gain	1.0000
17:8377575:T:C	donor_gain	0.9900
17:8377688:ACCAC:A	acceptor_gain	0.9900
17:8377689:CCAC:C	acceptor_gain	0.9900
17:8377689:CCACC:C	acceptor_gain	0.9900

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000341371 (17:8377729 A>G,T), RS1000390023 (17:8383203 C>G,T), RS1000610630 (17:8383122 T>G), RS1000860551 (17:8377945 A>G), RS1001291879 (17:8377887 C>A,T), RS1001460331 (17:8379111 TAGG>T), RS1001498080 (17:8383674 G>A), RS1001614030 (17:8384043 T>G), RS1001753398 (17:8382771 C>T), RS1002143680 (17:8377431 A>C), RS1002347414 (17:8380045 TAAA>T,TA,TAA,TAAAA), RS1002502436 (17:8384913 C>A), RS1002747692 (17:8378851 G>A), RS1002871984 (17:8380411 T>C), RS1003754454 (17:8381398 T>C)

Disease associations

OMIM: gene MIM:603704 | disease phenotypes: MIM:105650, MIM:614900

GenCC curated gene-disease

Disease	Classification	Inheritance
Diamond-Blackfan anemia 11	Strong	Autosomal dominant
Diamond-Blackfan anemia	Supportive	Autosomal dominant

Mondo (2): Diamond-Blackfan anemia (MONDO:0015253), Diamond-Blackfan anemia 11 (MONDO:0013964)

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

HPO phenotypes

76 total (30 of 76 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:0000122	Unilateral renal agenesis
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:0000402	Stenosis of the external auditory canal
HP:0000413	Atresia of the external auditory canal
HP:0000431	Wide nasal bridge
HP:0000465	Webbed neck
HP:0000470	Short neck
HP:0000486	Strabismus
HP:0000508	Ptosis
HP:0000519	Developmental cataract
HP:0000625	Eyelid coloboma
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

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

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

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (2): CHEMBL3987582 (PROTEIN NUCLEIC-ACID COMPLEX), CHEMBL6067573 (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
7.79	Kd	16.24	nM	CHEMBL5653589
7.79	ED50	16.24	nM	CHEMBL5653589
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
5.21	Kd	6181	nM	CHEMBL3752910
5.21	ED50	6181	nM	CHEMBL3752910
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
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2149256: Binding affinity to human RPL26 incubated for 45 mins by Kinobead based pull down assay	kd	0.0162	uM
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
4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2149256: Binding affinity to human RPL26 incubated for 45 mins by Kinobead based pull down assay	kd	6.1813	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

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases activity, increases expression, increases methylation	3
Particulate Matter	affects cotreatment, increases abundance, increases expression, decreases expression	3
bisphenol A	affects expression, decreases expression	2
Arsenic Trioxide	increases expression	2
Air Pollutants	affects expression, increases abundance, decreases expression	2
Valproic Acid	affects cotreatment, increases expression	2
Cadmium Chloride	affects localization, increases expression	2
FR900359	increases phosphorylation	1
bisphenol F	increases expression	1
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
pyrogallol 1,3-dimethyl ether	decreases expression, affects cotreatment, affects localization, increases expression	1
beta-lapachone	increases expression	1
arsenite	affects binding, increases reaction	1
coumarin	decreases phosphorylation	1
azoxystrobin	increases expression	1
chloropicrin	decreases expression	1
deguelin	increases expression	1
4-chloro-N-((4-(1,1-dimethylethyl)phenyl)methyl)-3-ethyl-1-methyl-1H-pyrazole-5-carboxamide	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
pyrimidifen	increases expression	1
ICG 001	decreases expression	1
bisphenol B	increases expression	1
abrine	decreases expression	1
pyrachlostrobin	increases expression	1
bisphenol S	increases expression	1
LDN 193189	affects cotreatment, decreases expression	1
picoxystrobin	increases expression	1
MT19c compound	increases expression	1
bisphenol AF	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)