RPL8

Summary

RPL8 (ribosomal protein L8, HGNC:10368) is a protein-coding gene on chromosome 8q24.3, encoding Large ribosomal subunit protein uL2 (P62917). 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 L2P family of ribosomal proteins. It is located in the cytoplasm. In rat, the protein associates with the 5.8S rRNA, very likely participates in the binding of aminoacyl-tRNA, and is a constituent of the elongation factor 2-binding site at the ribosomal subunit interface. Alternatively spliced transcript variants encoding the same protein exist. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome.

Source: NCBI Gene 6132 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Diamond-Blackfan anemia (Moderate, GenCC)
• GWAS associations: 5
• Clinical variants (ClinVar): 36 total
• Phenotypes (HPO): 59
• 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_001317782

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:10368
Approved symbol	RPL8
Name	ribosomal protein L8
Location	8q24.3
Locus type	gene with protein product
Status	Approved
Aliases	L8, uL2
Ensembl gene	ENSG00000161016
Ensembl biotype	protein_coding
OMIM	604177
Entrez	6132

Gene structure

Transcript identifiers

Ensembl transcripts: 15 — 7 protein_coding, 4 retained_intron, 2 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay

ENST00000262584, ENST00000394920, ENST00000525232, ENST00000526668, ENST00000527914, ENST00000528296, ENST00000528957, ENST00000529163, ENST00000529920, ENST00000531767, ENST00000531975, ENST00000532702, ENST00000533397, ENST00000534781, ENST00000913745

RefSeq mRNA: 4 — MANE Select: NM_001317782 NM_000973, NM_001317771, NM_001317782, NM_033301

CCDS: CCDS6433

Canonical transcript exons

ENST00000528957 — 5 exons

Exon	Start	End
ENSE00001131931	144791773	144791914
ENSE00002196410	144791992	144792390
ENSE00003575507	144789769	144789962
ENSE00003686489	144791277	144791495
ENSE00003789859	144790355	144790470

Expression profiles

Bgee: expression breadth ubiquitous, 153 present calls, max score 99.92.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 834.0082 / max 3723.8383, expressed in 1828 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
95719	815.3878	1828
95718	12.8372	1744
95717	3.5523	1442
95716	2.2309	1140

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
endometrium epithelium	UBERON:0004811	99.92	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	99.88	gold quality
ovary	UBERON:0000992	99.88	gold quality
right ovary	UBERON:0002118	99.88	gold quality
left ovary	UBERON:0002119	99.88	gold quality
trachea	UBERON:0003126	99.88	gold quality
thymus	UBERON:0002370	99.87	gold quality
mucosa of transverse colon	UBERON:0004991	99.87	gold quality
pituitary gland	UBERON:0000007	99.86	gold quality
zone of skin	UBERON:0000014	99.86	gold quality
skin of abdomen	UBERON:0001416	99.86	gold quality
skin of leg	UBERON:0001511	99.86	gold quality
ventricular zone	UBERON:0003053	99.86	gold quality
stromal cell of endometrium	CL:0002255	99.85	gold quality
endocervix	UBERON:0000458	99.85	gold quality
right uterine tube	UBERON:0001302	99.85	gold quality
adenohypophysis	UBERON:0002196	99.85	gold quality
fallopian tube	UBERON:0003889	99.85	gold quality
ganglionic eminence	UBERON:0004023	99.85	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	99.85	gold quality
body of uterus	UBERON:0009853	99.85	gold quality
lower esophagus mucosa	UBERON:0035834	99.85	gold quality
vermiform appendix	UBERON:0001154	99.84	gold quality
fundus of stomach	UBERON:0001160	99.84	gold quality
placenta	UBERON:0001987	99.84	gold quality
apex of heart	UBERON:0002098	99.84	gold quality
prostate gland	UBERON:0002367	99.84	gold quality
ectocervix	UBERON:0012249	99.84	gold quality
uterine cervix	UBERON:0000002	99.83	gold quality
right lobe of thyroid gland	UBERON:0001119	99.83	gold quality

Single-cell (SCXA)

Detected in 27 experiment(s), a significant marker in 7.

Experiment	Marker?	Max mean expression
E-MTAB-10042	yes	6226.18
E-CURD-122	yes	95.08
E-HCAD-9	yes	24.29
E-MTAB-9221	yes	21.45
E-MTAB-9543	yes	18.69
E-HCAD-35	yes	9.51
E-MTAB-9801	yes	7.67
E-MTAB-6653	no	8111.16
E-MTAB-8559	no	7271.47
E-MTAB-8410	no	7155.00
E-CURD-98	no	6928.13
E-CURD-55	no	6564.41
E-MTAB-8142	no	6519.31
E-MTAB-7606	no	5749.40
E-MTAB-11121	no	5129.16

Regulation

Is transcription factor: no

Functional genomics

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

Literature-anchored findings (GeneRIF, showing 5)

• gain of RPL8 is associated with good response to chemotherapy in conventional osteosarcomas. (PMID:19449377)
• Report dysregulated expression of RPL8 in disc degeneration. (PMID:25893343)
• confirmed the hydroxylase activity of NO66 and showed that oligomerization is required for NO66 to efficiently catalyze the hydroxylation of Rpl8 (PMID:26327385)
• Integrative Multi-Omics Analysis of Identified Ferroptosis-Marker RPL8 as a Candidate Oncogene Correlates with Poor Prognosis and Immune Infiltration in Liver Cancer. (PMID:36017842)
• Silencing RPL8 inhibits the progression of hepatocellular carcinoma by down-regulating the mTORC1 signalling pathway. (PMID:36577883)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	rpl8	ENSDARG00000014867
mus_musculus	Rpl8	ENSMUSG00000003970
rattus_norvegicus	AC129049.1	ENSRNOG00000031381
drosophila_melanogaster	RpL8	FBGN0261602
caenorhabditis_elegans		WBGENE00004413

Paralogs (1): MRPL2 (ENSG00000112651)

Protein

Protein identifiers

Large ribosomal subunit protein uL2 — P62917 (reviewed: P62917)

Alternative names: 60S ribosomal protein L8

All UniProt accessions (6): P62917, E9PKU4, E9PKZ0, E9PP36, G3V1A1, H0YF23

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 CRY1.

Subcellular location. Cytoplasm.

Post-translational modifications. Hydroxylated on His-216 by RIOX1. The modification is impaired by hypoxia.

Miscellaneous. This protein can be partially incorporated into E.coli polysomes in vivo, indicating it can replace the endogenous protein.

Similarity. Belongs to the universal ribosomal protein uL2 family.

RefSeq proteins (4): NP_000964, NP_001304700, NP_001304711, NP_150644 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002171	Ribosomal_uL2	Family
IPR008991	Translation_prot_SH3-like_sf	Homologous_superfamily
IPR012340	NA-bd_OB-fold	Homologous_superfamily
IPR014722	Rib_uL2_dom2	Homologous_superfamily
IPR014726	Ribosomal_uL2_dom3	Homologous_superfamily
IPR022666	Ribosomal_uL2_RNA-bd_dom	Domain
IPR022669	Ribosomal_uL2_C	Domain
IPR022671	Ribosomal_uL2_CS	Conserved_site
IPR023672	Ribosomal_uL2_arc_euk	Family

Pfam: PF00181, PF03947

UniProt features (10 total): cross-link 4, initiator methionine 1, chain 1, region of interest 1, modified residue 1, sequence variant 1, mutagenesis site 1

Structure

Experimental structures (PDB)

181 structures, top 30 by resolution.

PDB	Method	Resolution (Å)
8A3D	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
4Y3O	X-RAY DIFFRACTION	2.2
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
4CCN	X-RAY DIFFRACTION	2.23
8JDK	ELECTRON MICROSCOPY	2.26
4CCO	X-RAY DIFFRACTION	2.3
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
9QLO	ELECTRON MICROSCOPY	2.47
8FLE	ELECTRON MICROSCOPY	2.48
9P8B	ELECTRON MICROSCOPY	2.48

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P62917-F1	95.22	0.94

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 (5): 216, 42, 149, 234, 250

Mutagenesis-validated functional residues (1):

Position	Phenotype
209	no incorporation into translating e.coli polysomes; ribosomes assembled normally. significantly reduced translational ac

Function

Pathways and Gene Ontology

Reactome pathways

17 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-9629569	Protein hydroxylation
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: 360 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_DN, GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_DN, GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_DN, GSE45365_CTRL_VS_MCMV_INFECTION_NK_CELL_DN, GOBP_CYTOPLASMIC_TRANSLATION, SWEET_KRAS_ONCOGENIC_SIGNATURE, XU_GH1_AUTOCRINE_TARGETS_UP, MODULE_151, ENK_UV_RESPONSE_KERATINOCYTE_UP, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GOBP_STRIATED_MUSCLE_CELL_DIFFERENTIATION, HSIAO_HOUSEKEEPING_GENES, GOBP_MALE_GAMETE_GENERATION, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION, GOBP_TRANSLATION

GO Biological Process (2): cytoplasmic translation (GO:0002181), translation (GO:0006412)

GO Molecular Function (4): RNA binding (GO:0003723), structural constituent of ribosome (GO:0003735), rRNA binding (GO:0019843), protein binding (GO:0005515)

GO Cellular Component (13): nucleoplasm (GO:0005654), cytoplasm (GO:0005737), cytosol (GO:0005829), focal adhesion (GO:0005925), postsynaptic density (GO:0014069), membrane (GO:0016020), cytosolic large ribosomal subunit (GO:0022625), cytosolic ribosome (GO:0022626), postsynapse (GO:0098794), ribosome (GO:0005840), large ribosomal subunit (GO:0015934), synapse (GO:0045202), ribonucleoprotein complex (GO:1990904)

Reactome top-level categories

Rollup of top-12 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
Gamma carboxylation, hypusinylation, hydroxylation, and arylsulfatase activation	1
Cellular response to starvation	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	5
ribosome	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
nucleic acid binding	1
structural molecule activity	1
RNA binding	1
binding	1
nuclear lumen	1
intracellular anatomical structure	1
cytoplasm	1
cell-substrate junction	1
asymmetric synapse	1
postsynaptic specialization	1
large ribosomal subunit	1
cytosolic ribosome	1
cytosol	1
synapse	1
intracellular membraneless organelle	1
ribosomal subunit	1
cell junction	1
protein-containing complex	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

335 interactions, top by confidence:

A	B	Type	Score
MAP3K14	CHUK	psi-mi:“MI:0914”(association)	0.950
PPP1CC	CCDC85C	psi-mi:“MI:0914”(association)	0.740
PPP1CC	CCDC85C	psi-mi:“MI:2364”(proximity)	0.740
H2AX	PPM1G	psi-mi:“MI:0914”(association)	0.730
XPC	CETN3	psi-mi:“MI:0914”(association)	0.730
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
FAM90A1	KPNA3	psi-mi:“MI:0914”(association)	0.670
RACK1	RPS17	psi-mi:“MI:0915”(physical association)	0.610
NOM1	RPLP0	psi-mi:“MI:0914”(association)	0.530
MECP2	GTPBP10	psi-mi:“MI:0914”(association)	0.530
RPL37A	MPHOSPH10	psi-mi:“MI:0914”(association)	0.530
RPL18	NOP56	psi-mi:“MI:0914”(association)	0.530
MACROH2A2	PPM1G	psi-mi:“MI:0914”(association)	0.530
RPL8	RRP8	psi-mi:“MI:0914”(association)	0.530
DDX6	MCRIP1	psi-mi:“MI:0914”(association)	0.510
CFTR	PLEKHG3	psi-mi:“MI:0914”(association)	0.480

BioGRID (860): RPL8 (Affinity Capture-MS), RPL8 (Affinity Capture-MS), RPL8 (Affinity Capture-MS), RPL8 (Affinity Capture-MS), RPL8 (Affinity Capture-MS), RPL8 (Biochemical Activity), RPL8 (Affinity Capture-MS), RPL8 (Affinity Capture-MS), RPL26L1 (Affinity Capture-MS), RPLP2 (Affinity Capture-MS), RPL4 (Affinity Capture-MS), CCDC137 (Affinity Capture-MS), RBM28 (Affinity Capture-MS), POP1 (Affinity Capture-MS), DDX24 (Affinity Capture-MS)

ESM2 similar proteins: A0A1D8PF08, A0RZ09, A1RWQ7, A4YCW9, A8AC70, A8ME99, A9A141, B1L707, C3MQ62, C3MVI1, C3N5T0, C3NEE6, C3NHA6, C4KHF9, G1TT27, O15574, P0CT70, P0CT71, P0CT72, P0CX45, P0CX46, P0DJ52, P13023, P25998, P29766, P41116, P41569, P46286, P60408, P62917, P62918, P62919, Q3T0S6, Q42064, Q4JB43, Q4PSL7, Q5R7Y8, Q6FPN7, Q6L1C4, Q6P0V6

Diamond homologs: A0A1D8PF08, A0B9W7, A0RZ09, A1RTI4, A1RWQ7, A2BMB2, A2SPK6, A3CT00, A3DNA7, A3MS41, A4FVX9, A4WH02, A4YCW9, A5UL86, A6UQJ3, A6UV65, A6VHD5, A7I5P2, A8AC70, A8ME99, A9A141, A9A9B5, A9W4Q4, B0R659, B1L707, B1YA33, B1ZLK7, B6YSL6, B7L0R4, B8D5W9, B8GKD6, B9LSS4, C3MQ62, C3MVI1, C3N5T0, C3NEE6, C3NHA6, C4KHF9, C5A283, G1TT27

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
RPL8	“form complex”	“60S cytosolic large ribosomal subunit”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 219 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
SRP-dependent cotranslational protein targeting to membrane	23	15.3×	2e-18
Eukaryotic Translation Termination	19	15.1×	2e-15
Peptide chain elongation	18	15.1×	8e-15
Viral mRNA Translation	18	15.1×	8e-15
PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA	18	15.0×	8e-15
Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC)	19	14.8×	2e-15
Selenocysteine synthesis	18	14.3×	2e-14
ZNF598 and the Ribosome-associated Quality Trigger (RQT) complex dissociate a ribosome stalled on a no-go mRNA	18	14.0×	2e-14

GO biological processes:

GO term	Partners	Fold	FDR
ribosomal large subunit biogenesis	9	20.8×	1e-07
cytoplasmic translation	21	20.2×	7e-19
negative regulation of mRNA splicing, via spliceosome	5	19.9×	6e-04
stress granule assembly	5	15.7×	2e-03
ribosomal small subunit biogenesis	10	11.9×	3e-06
translation	22	11.8×	8e-15
rRNA processing	15	11.1×	2e-09
mitophagy	6	9.9×	3e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	26
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

799 predictions. Top by Δscore:

Variant	Effect	Δscore
8:144789958:ACAGG:A	acceptor_gain	1.0000
8:144789959:CAGG:C	acceptor_gain	1.0000
8:144789959:CAGGC:C	acceptor_gain	1.0000
8:144789960:AGG:A	acceptor_gain	1.0000
8:144789961:GG:G	acceptor_gain	1.0000
8:144789961:GGC:G	acceptor_loss	1.0000
8:144789962:GCTGC:G	acceptor_loss	1.0000
8:144789963:C:CA	acceptor_loss	1.0000
8:144789963:C:CC	acceptor_gain	1.0000
8:144789970:C:CT	acceptor_gain	1.0000
8:144790350:CT:C	donor_loss	1.0000
8:144790351:TT:T	donor_loss	1.0000
8:144790352:TACAT:T	donor_loss	1.0000
8:144790353:A:AC	donor_gain	1.0000
8:144790353:ACATT:A	donor_gain	1.0000
8:144790354:C:CT	donor_gain	1.0000
8:144790354:CA:C	donor_gain	1.0000
8:144790354:CAT:C	donor_gain	1.0000
8:144790354:CATT:C	donor_gain	1.0000
8:144790354:CATTC:C	donor_gain	1.0000
8:144790468:CAC:C	acceptor_gain	1.0000
8:144790470:CCTG:C	acceptor_loss	1.0000
8:144790471:CTGT:C	acceptor_loss	1.0000
8:144791274:CAC:C	donor_loss	1.0000
8:144791275:A:AC	donor_gain	1.0000
8:144791275:AC:A	donor_gain	1.0000
8:144791276:C:CT	donor_gain	1.0000
8:144791276:C:G	donor_loss	1.0000
8:144791276:CC:C	donor_gain	1.0000
8:144791276:CCA:C	donor_gain	1.0000

AlphaMissense

1644 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:144789943:C:T	G212E	1.000
8:144789847:C:T	G244E	0.999
8:144789859:G:T	A240D	0.999
8:144789871:C:T	G236D	0.999
8:144789872:C:G	G236R	0.999
8:144789919:C:T	G220D	0.999
8:144789932:G:C	H216D	0.999
8:144789937:C:A	G214V	0.999
8:144789937:C:T	G214D	0.999
8:144789943:C:A	G212V	0.999
8:144789944:C:G	G212R	0.999
8:144789944:C:T	G212R	0.999
8:144789945:A:C	F211L	0.999
8:144789945:A:T	F211L	0.999
8:144789947:A:G	F211L	0.999
8:144789951:A:C	H209Q	0.999
8:144789951:A:T	H209Q	0.999
8:144789952:T:C	H209R	0.999
8:144790355:A:C	N205K	0.999
8:144790355:A:T	N205K	0.999
8:144790384:A:G	W196R	0.999
8:144790384:A:T	W196R	0.999
8:144790458:C:T	G171E	0.999
8:144790461:G:T	A170D	0.999
8:144791277:C:G	G167R	0.999
8:144791327:A:G	L150P	0.999
8:144791369:A:T	V136D	0.999
8:144791384:C:A	G131V	0.999
8:144791384:C:T	G131E	0.999
8:144791385:C:A	G131W	0.999

dbSNP variants (sampled 300 via entrez): RS1000119275 (8:144790231 C>A,G), RS1002056004 (8:144792813 G>T), RS1002820317 (8:144790714 A>G), RS1002823533 (8:144793907 C>T), RS1002893912 (8:144790858 T>C), RS1003032910 (8:144790038 A>G), RS1003653628 (8:144793579 A>T), RS1004132367 (8:144793850 C>G,T), RS1004369356 (8:144791953 G>C), RS1004494023 (8:144791620 G>A,C,T), RS1004569162 (8:144791808 A>G), RS1005645837 (8:144793459 G>A), RS1006209661 (8:144793714 C>G,T), RS1006234631 (8:144792560 C>T), RS1006240819 (8:144793874 A>C,G)

Disease associations

OMIM: gene MIM:604177 | disease phenotypes: MIM:105650

GenCC curated gene-disease

Disease	Classification	Inheritance
Diamond-Blackfan anemia	Moderate	Autosomal dominant

Mondo (1): Diamond-Blackfan anemia (MONDO:0015253)

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

HPO phenotypes

59 total (30 of 59 shown, HPO-id order):

HPO	Term
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
HP:0001631	Atrial septal defect

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST006879_12	Blood metabolite levels	4.000000e-10
GCST006879_13	Blood metabolite levels	2.000000e-09
GCST006879_14	Blood metabolite levels	2.000000e-11
GCST006879_5	Blood metabolite levels	2.000000e-12
GCST007005_4	Logical memory (immediate recall) in normal cognition	2.000000e-07

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004874	memory performance

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), CHEMBL6067550 (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
7.30	Kd	50.25	nM	CHEMBL3752910
7.30	ED50	50.25	nM	CHEMBL3752910
6.92	Kd	120.7	nM	CHEMBL5653589
6.92	ED50	120.7	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
5.16	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-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2149275: Binding affinity to human RPL8 incubated for 45 mins by Kinobead based pull down assay	kd	0.0503	uM
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2149275: Binding affinity to human RPL8 incubated for 45 mins by Kinobead based pull down assay	kd	0.1207	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
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

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects expression, affects cotreatment, increases methylation, decreases expression	4
arsenite	affects binding, increases reaction, increases methylation	2
sodium arsenite	decreases expression	2
perfluorooctanoic acid	increases expression, decreases expression	2
perfluorooctane sulfonic acid	decreases expression, increases expression	2
aristolochic acid I	decreases expression	1
TAK-243	increases sumoylation	1
beauvericin	affects cotreatment, decreases expression	1
deoxynivalenol	increases expression	1
pyrogallol 1,3-dimethyl ether	affects cotreatment, affects localization, increases expression	1
ochratoxin A	increases expression	1
azoxystrobin	increases expression	1
CD 437	decreases expression	1
chloropicrin	increases expression	1
enniatins	affects cotreatment, decreases expression	1
perfluoro-n-nonanoic acid	decreases expression	1
deguelin	increases expression	1
poly(propyleneimine)	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
perfluorohexanesulfonic acid	decreases expression	1
3-(4’-hydroxy-3’-adamantylbiphenyl-4-yl)acrylic acid	decreases expression	1
pyrimidifen	increases 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
bisphenol AF	increases expression	1
Sunitinib	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)