HEATR3

Summary

HEATR3 (HEAT repeat containing 3, HGNC:26087) is a protein-coding gene on chromosome 16q12.1, encoding HEAT repeat-containing protein 3 (Q7Z4Q2). Plays a role in ribosome biogenesis and in nuclear import of the 60S ribosomal protein L5/large ribosomal subunit protein uL18 (RPL5). It is a selective cancer dependency (DepMap: 25.8% of cell lines).

The protein encoded by this gene plays a role in ribosomal protein transport and in the assembly of the 5S ribonucleoprotein particle (5S RNP). The encoded protein also may be involved in NOD2-mediated NF-kappaB signaling.

Source: NCBI Gene 55027 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Diamond-Blackfan anemia 21 (Strong, GenCC) — +1 more curated relationship
• GWAS associations: 13
• Clinical variants (ClinVar): 112 total — 4 pathogenic
• Phenotypes (HPO): 89
• Cancer dependency (DepMap): dependent in 25.8% of screened cell lines
• MANE Select transcript: NM_182922

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26087
Approved symbol	HEATR3
Name	HEAT repeat containing 3
Location	16q12.1
Locus type	gene with protein product
Status	Approved
Aliases	FLJ20718
Ensembl gene	ENSG00000155393
Ensembl biotype	protein_coding
OMIM	614951
Entrez	55027

Gene structure

Transcript identifiers

Ensembl transcripts: 19 — 7 retained_intron, 5 protein_coding, 4 protein_coding_CDS_not_defined, 3 nonsense_mediated_decay

ENST00000299192, ENST00000561525, ENST00000561819, ENST00000564942, ENST00000569324, ENST00000685571, ENST00000688981, ENST00000689598, ENST00000690683, ENST00000691120, ENST00000691270, ENST00000691604, ENST00000692328, ENST00000693174, ENST00000693352, ENST00000693599, ENST00000887923, ENST00000887924, ENST00000948334

RefSeq mRNA: 4 — MANE Select: NM_182922 NM_001329729, NM_001329730, NM_001329731, NM_182922

CCDS: CCDS10739

Canonical transcript exons

ENST00000299192 — 15 exons

Exon	Start	End
ENSE00000683138	50100230	50100373
ENSE00000683146	50102259	50102435
ENSE00000945056	50094705	50094793
ENSE00001020708	50070178	50070290
ENSE00001020709	50072605	50072714
ENSE00001100302	50066367	50066539
ENSE00001142015	50078741	50079018
ENSE00001142026	50075571	50075711
ENSE00001550935	50104939	50107272
ENSE00002612757	50065970	50066269
ENSE00003465098	50084569	50084651
ENSE00003466557	50083937	50084027
ENSE00003514217	50068780	50068867
ENSE00003530435	50086215	50086351
ENSE00003607188	50084134	50084291

Expression profiles

Bgee: expression breadth ubiquitous, 248 present calls, max score 89.19.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 17.0627 / max 155.1186, expressed in 1808 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
153977	17.0627	1808

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
monocyte	CL:0000576	89.19	gold quality
mononuclear cell	CL:0000842	88.97	gold quality
leukocyte	CL:0000738	88.50	gold quality
buccal mucosa cell	CL:0002336	87.70	silver quality
granulocyte	CL:0000094	84.55	gold quality
adrenal tissue	UBERON:0018303	83.72	gold quality
gastrocnemius	UBERON:0001388	83.38	gold quality
muscle of leg	UBERON:0001383	83.08	gold quality
mucosa of sigmoid colon	UBERON:0004993	82.91	gold quality
spleen	UBERON:0002106	82.39	gold quality
cerebellar hemisphere	UBERON:0002245	82.26	gold quality
cortical plate	UBERON:0005343	82.20	gold quality
cerebellar cortex	UBERON:0002129	82.07	gold quality
stromal cell of endometrium	CL:0002255	81.68	gold quality
vermiform appendix	UBERON:0001154	81.56	gold quality
rectum	UBERON:0001052	81.49	gold quality
right hemisphere of cerebellum	UBERON:0014890	81.46	gold quality
cerebellum	UBERON:0002037	81.24	gold quality
colonic mucosa	UBERON:0000317	81.23	gold quality
left adrenal gland cortex	UBERON:0035825	81.00	gold quality
right adrenal gland cortex	UBERON:0035827	80.90	gold quality
right adrenal gland	UBERON:0001233	80.89	gold quality
left adrenal gland	UBERON:0001234	80.79	gold quality
mucosa of transverse colon	UBERON:0004991	80.79	gold quality
adrenal gland	UBERON:0002369	80.68	gold quality
adrenal cortex	UBERON:0001235	80.16	gold quality
skeletal muscle organ	UBERON:0014892	79.95	gold quality
muscle organ	UBERON:0001630	79.94	gold quality
blood	UBERON:0000178	79.91	gold quality
body of pancreas	UBERON:0001150	79.63	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.62

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

19 targeting HEATR3, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-150-5P	99.99	66.69	1976
HSA-MIR-3662	99.99	73.82	5684
HSA-LET-7A-2-3P	99.87	70.53	1921
HSA-LET-7G-3P	99.85	70.43	1929
HSA-MIR-4713-5P	99.78	67.80	1794
HSA-MIR-3942-3P	99.57	69.03	2854
HSA-MIR-12131	99.48	68.72	1673
HSA-MIR-1275	99.47	67.90	2749
HSA-MIR-619-5P	98.57	64.97	1988
HSA-MIR-5585-3P	98.25	67.41	941
HSA-MIR-4665-5P	97.91	67.69	1536
HSA-MIR-630	97.50	66.38	921
HSA-MIR-1227-3P	97.36	66.94	834
HSA-MIR-6879-3P	93.93	64.00	759

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 25.8% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 2)

• Data indicate that HEATR3 plays a positive role in NOD2-mediated NF-kappaB signaling. (PMID:23615072)
• HEATR3 variants impair nuclear import of uL18 (RPL5) and drive Diamond-Blackfan anemia. (PMID:35213692)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	heatr3	ENSDARG00000036076
mus_musculus	Heatr3	ENSMUSG00000031657
rattus_norvegicus	Heatr3	ENSRNOG00000015459
drosophila_melanogaster	CG10286	FBGN0037439

Protein

Protein identifiers

HEAT repeat-containing protein 3 — Q7Z4Q2 (reviewed: Q7Z4Q2)

Alternative names: Symportin Syo1

All UniProt accessions (5): Q7Z4Q2, A0A8I5KQT3, A0A8I5KR70, A0A8I5KVQ2, A0A8I5KWG8

UniProt curated annotations — full annotation on UniProt →

Function. Plays a role in ribosome biogenesis and in nuclear import of the 60S ribosomal protein L5/large ribosomal subunit protein uL18 (RPL5). Required for proper erythrocyte maturation.

Subunit / interactions. Component of a hexameric 5S RNP precursor complex, composed of 5S RNA, RRS1, RPF2/BXDC1, RPL5, RPL11 and HEATR3; this complex acts as a precursor for ribosome assembly.

Disease relevance. Diamond-Blackfan anemia 21 (DBA21) [MIM:620072] An autosomal recessive 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. DBA21 patients manifest bone marrow failure, short stature, facial and acromelic dysmorphic features, and intellectual disability. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the nuclear import and ribosome assembly adapter family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q7Z4Q2-1	1	yes
Q7Z4Q2-2	2
Q7Z4Q2-3	3

RefSeq proteins (4): NP_001316658, NP_001316659, NP_001316660, NP_891552* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR011989	ARM-like	Homologous_superfamily
IPR016024	ARM-type_fold	Homologous_superfamily
IPR052616	SYO1-like	Family
IPR057990	TPR_SYO1	Domain

Pfam: PF13513, PF25567

UniProt features (19 total): sequence variant 5, splice variant 3, modified residue 3, repeat 2, sequence conflict 2, compositionally biased region 2, chain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q7Z4Q2-F1	83.07	0.65

Functional residue map

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

Post-translational modifications (3): 15, 144, 340

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 317 (showing top): GOBP_MYELOID_CELL_DIFFERENTIATION, GOBP_RIBOSOME_BIOGENESIS, GOBP_MYELOID_CELL_HOMEOSTASIS, TGCGCANK_UNKNOWN, GOBP_MYELOID_CELL_DEVELOPMENT, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, SHEPARD_CRASH_AND_BURN_MUTANT_UP, GOBP_ERYTHROCYTE_HOMEOSTASIS, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE, GOBP_NUCLEAR_TRANSPORT, GOBP_ANATOMICAL_STRUCTURE_MATURATION, GOBP_CELL_MATURATION, GOBP_ERYTHROCYTE_MATURATION, ZHOU_INFLAMMATORY_RESPONSE_LIVE_DN, TIEN_INTESTINE_PROBIOTICS_24HR_UP

GO Biological Process (4): protein import into nucleus (GO:0006606), ribosomal large subunit biogenesis (GO:0042273), erythrocyte maturation (GO:0043249), ribosome biogenesis (GO:0042254)

GO Molecular Function (1): obsolete unfolded protein binding (GO:0051082)

GO Cellular Component (0):

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
ribonucleoprotein complex biogenesis	2
intracellular protein transport	1
protein localization to nucleus	1
import into nucleus	1
establishment of protein localization to organelle	1
ribosome biogenesis	1
cell maturation	1
erythrocyte development	1

Protein interactions and networks

STRING

1796 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
HEATR3	RPL5	P46777	889
HEATR3	RPL11	P25121	820
HEATR3	GRWD1	Q9BQ67	736
HEATR3	SSX1	Q16384	653
HEATR3	TSR2	Q969E8	611
HEATR3	RPF2	Q9H7B2	609
HEATR3	SS18	Q15532	593
HEATR3	RPL4	P36578	561
HEATR3	RPL3	P39023	540
HEATR3	CNEP1R1	Q8N9A8	525
HEATR3	SSX4	O60224	506
HEATR3	C16orf78	Q8WTQ4	482
HEATR3	C14orf119	Q9NWQ9	482
HEATR3	MDN1	Q9NU22	470
HEATR3	PSMD4	P55036	459

IntAct

164 interactions, top by confidence:

A	B	Type	Score
HEATR3	TMEM186	psi-mi:“MI:0914”(association)	0.730
LNPEP	CANX	psi-mi:“MI:0914”(association)	0.640
B3GAT3	GOLIM4	psi-mi:“MI:0914”(association)	0.640
SCN2B	EXOC5	psi-mi:“MI:0914”(association)	0.640
HTR2C	KLRG2	psi-mi:“MI:0914”(association)	0.530
LRFN4	RIMOC1	psi-mi:“MI:0914”(association)	0.530
GYPB	TCAF2	psi-mi:“MI:0914”(association)	0.530
EPHA1	EXOC5	psi-mi:“MI:0914”(association)	0.530
COMTD1	IFRD1	psi-mi:“MI:0914”(association)	0.530
PTGER3	PIK3R2	psi-mi:“MI:0914”(association)	0.530
FZD10	NRP1	psi-mi:“MI:0914”(association)	0.530
CD83	BTAF1	psi-mi:“MI:0914”(association)	0.530
LMAN2	PLXNB2	psi-mi:“MI:0914”(association)	0.530
TMEM171	THAP12	psi-mi:“MI:0914”(association)	0.530
TMEM186	POTEE	psi-mi:“MI:0914”(association)	0.530
	HEATR3	psi-mi:“MI:0914”(association)	0.530
EGFR	PEX19	psi-mi:“MI:0914”(association)	0.530
CD70	METTL15	psi-mi:“MI:0914”(association)	0.530
CHRM3	PLD2	psi-mi:“MI:0914”(association)	0.530

BioGRID (233): HEATR3 (Affinity Capture-MS), HEATR3 (Affinity Capture-MS), HEATR3 (Affinity Capture-MS), HEATR3 (Affinity Capture-MS), HEATR3 (Affinity Capture-MS), HEATR3 (Affinity Capture-MS), HEATR3 (Affinity Capture-MS), HEATR3 (Affinity Capture-MS), HEATR3 (Affinity Capture-MS), HEATR3 (Affinity Capture-MS), HEATR3 (Co-fractionation), HEATR3 (Affinity Capture-MS), HEATR3 (Affinity Capture-MS), HEATR3 (Affinity Capture-MS), HEATR3 (Affinity Capture-MS)

ESM2 similar proteins: A0A1I9LM04, A2WXU2, A4QP73, B0M1H3, B8AXB6, B9FM64, C8VP82, F4I3Z5, F4I9T0, F4IIM1, F4IP13, F4KEY9, O22161, P23923, P49965, Q01H90, Q0JBY9, Q0JJ01, Q10FT0, Q10PI9, Q17DK2, Q21986, Q294E0, Q2R1D5, Q2R224, Q32PZ3, Q5N829, Q5RAP0, Q5ZK92, Q66GN3, Q6DKK2, Q6Z690, Q75HA6, Q7X993, Q7XUR2, Q7Z4Q2, Q8BQM4, Q8H1U4, Q94CK3, Q99KD5

Diamond homologs: Q7Z4Q2, Q8BQM4

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 190 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
Glycosaminoglycan-protein linkage region biosynthesis	5	16.3×	9e-03

GO biological processes:

GO term	Partners	Fold	FDR
protein import into nucleus	9	8.3×	2e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	4
Likely pathogenic	0
Uncertain significance	78
Likely benign	9
Benign	2

Top pathogenic / likely-pathogenic (4)

Variant ID	HGVS	Classification
1300197	NM_182922.4(HEATR3):c.400T>C (p.Cys134Arg)	Pathogenic
1321318	NM_182922.4(HEATR3):c.1337G>A (p.Cys446Tyr)	Pathogenic
1334102	NM_182922.4(HEATR3):c.399+1G>T	Pathogenic
1334103	NM_182922.4(HEATR3):c.719C>T (p.Pro240Leu)	Pathogenic

SpliceAI

2673 predictions. Top by Δscore:

Variant	Effect	Δscore
16:50066267:AAGGT:A	donor_loss	1.0000
16:50066268:AGGT:A	donor_loss	1.0000
16:50066270:G:C	donor_loss	1.0000
16:50066270:G:GG	donor_gain	1.0000
16:50066271:T:G	donor_loss	1.0000
16:50066363:GCAGC:G	acceptor_loss	1.0000
16:50066364:CA:C	acceptor_loss	1.0000
16:50066365:A:AG	acceptor_gain	1.0000
16:50066365:A:C	acceptor_loss	1.0000
16:50066366:G:GG	acceptor_gain	1.0000
16:50066366:G:GT	acceptor_loss	1.0000
16:50068865:GAG:G	donor_gain	1.0000
16:50070176:A:AG	acceptor_gain	1.0000
16:50070177:G:GG	acceptor_gain	1.0000
16:50070177:GT:G	acceptor_gain	1.0000
16:50070177:GTGTA:G	acceptor_gain	1.0000
16:50075566:CGTA:C	acceptor_loss	1.0000
16:50075568:TA:T	acceptor_loss	1.0000
16:50075569:A:AG	acceptor_gain	1.0000
16:50075569:A:AT	acceptor_loss	1.0000
16:50075570:G:GT	acceptor_gain	1.0000
16:50075570:GC:G	acceptor_gain	1.0000
16:50075570:GCA:G	acceptor_gain	1.0000
16:50075570:GCAT:G	acceptor_gain	1.0000
16:50075570:GCATA:G	acceptor_gain	1.0000
16:50075706:TAGC:T	donor_gain	1.0000
16:50075707:AGCA:A	donor_gain	1.0000
16:50075707:AGCAG:A	donor_loss	1.0000
16:50075708:GCA:G	donor_gain	1.0000
16:50075708:GCAGG:G	donor_loss	1.0000

AlphaMissense

4477 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:50068787:A:C	S107R	0.997
16:50068789:T:A	S107R	0.997
16:50068789:T:G	S107R	0.997
16:50102331:G:C	A606P	0.995
16:50105017:T:C	F667L	0.995
16:50105018:T:C	F667S	0.995
16:50105019:T:A	F667L	0.995
16:50105019:T:G	F667L	0.995
16:50075576:T:C	C210R	0.994
16:50066512:T:A	V95D	0.992
16:50102335:T:C	L607P	0.992
16:50102404:T:C	L630P	0.992
16:50066391:C:A	R55S	0.991
16:50094740:A:C	S516R	0.991
16:50094742:T:A	S516R	0.991
16:50094742:T:G	S516R	0.991
16:50100330:G:A	G567D	0.991
16:50102322:G:C	A603P	0.991
16:50102346:T:C	F611L	0.991
16:50102348:T:A	F611L	0.991
16:50102348:T:G	F611L	0.991
16:50066523:G:C	A99P	0.990
16:50083979:G:C	A362P	0.990
16:50102344:T:A	V610D	0.990
16:50102347:T:C	F611S	0.990
16:50105007:T:A	N663K	0.990
16:50105007:T:G	N663K	0.990
16:50070289:T:C	C171R	0.989
16:50083995:T:C	L367P	0.988
16:50105005:A:G	N663D	0.988

dbSNP variants (sampled 300 via entrez): RS1000042890 (16:50087322 A>G), RS1000057225 (16:50081234 G>A), RS1000068512 (16:50078002 A>G), RS1000161945 (16:50069600 C>G), RS1000167814 (16:50102841 C>A,T), RS1000329303 (16:50103121 G>GA), RS1000467708 (16:50085591 G>A), RS1000667882 (16:50104315 G>A,C,T), RS1000738806 (16:50075330 A>G), RS1000772502 (16:50096716 C>G), RS1000825260 (16:50096985 C>T), RS1000828561 (16:50072928 G>A), RS1000844188 (16:50067245 C>T), RS1000948907 (16:50104697 T>C), RS1000963873 (16:50072637 A>G)

Disease associations

OMIM: gene MIM:614951 | disease phenotypes: MIM:105650, MIM:620072

GenCC curated gene-disease

Disease	Classification	Inheritance
Diamond-Blackfan anemia 21	Strong	Autosomal recessive
Diamond-Blackfan anemia	Strong	Autosomal recessive

Mondo (3): Diamond-Blackfan anemia 1 (MONDO:0007110), Diamond-Blackfan anemia 21 (MONDO:0031071), Diamond-Blackfan anemia (MONDO:0015253)

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

HPO phenotypes

89 total (30 of 89 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000047	Hypospadias
HP:0000085	Horseshoe kidney
HP:0000104	Renal agenesis
HP:0000119	Abnormality of the genitourinary system
HP:0000160	Narrow mouth
HP:0000185	Cleft soft palate
HP:0000218	High palate
HP:0000234	Abnormality of the head
HP:0000252	Microcephaly
HP:0000286	Epicanthus
HP:0000293	Full cheeks
HP:0000294	Low anterior hairline
HP:0000316	Hypertelorism
HP:0000347	Micrognathia
HP:0000349	Widow’s peak
HP:0000369	Low-set ears
HP:0000411	Protruding ear
HP:0000431	Wide nasal bridge
HP:0000465	Webbed neck
HP:0000470	Short neck
HP:0000486	Strabismus
HP:0000494	Downslanted palpebral fissures
HP:0000508	Ptosis
HP:0000519	Developmental cataract
HP:0000664	Synophrys
HP:0000912	Sprengel anomaly
HP:0000965	Cutis marmorata
HP:0000980	Pallor
HP:0001087	Developmental glaucoma

GWAS associations

13 associations (top):

Study	Trait	p-value
GCST001674_1	Esophageal cancer (squamous cell)	2.000000e-20
GCST002022_5	Testicular germ cell tumor	4.000000e-09
GCST002023_4	Testicular germ cell tumor	3.000000e-06
GCST004347_7	Glioma	4.000000e-11
GCST004349_2	Glioblastoma	1.000000e-11
GCST004635_32	Testicular germ cell tumor	5.000000e-07
GCST004713_32	Testicular germ cell tumor	3.000000e-09
GCST006804_55	Red cell distribution width	7.000000e-13
GCST007343_3	Epilepsy	4.000000e-08
GCST008423_2	Uterine fibroids	1.000000e-09
GCST011956_101	Systemic lupus erythematosus	2.000000e-10
GCST90000025_90	Appendicular lean mass	2.000000e-09
GCST90002396_586	Mean reticulocyte volume	1.000000e-17

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0009188	Red cell distribution width
EFO:0004980	appendicular lean mass
EFO:0010701	mean reticulocyte volume

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D029503	Anemia, Diamond-Blackfan	C15.378.050.085.080.090; C15.378.050.750.500; C15.378.190.223.500.500.090; C16.320.077.090
C567302	Diamond-Blackfan Anemia 1 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases expression, increases methylation	3
Estradiol	affects expression, decreases expression, increases expression	3
Valproic Acid	affects cotreatment, increases expression	3
sodium arsenite	decreases expression, increases expression	2
Acetaminophen	decreases expression	2
Nickel	increases expression	2
Cadmium Chloride	decreases expression	2
Particulate Matter	affects cotreatment, decreases expression, increases abundance	2
FR900359	decreases phosphorylation	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
cobaltous chloride	decreases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
cylindrospermopsin	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
ICG 001	decreases expression	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, increases expression	1
2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine	decreases expression, increases response to substance	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
Resveratrol	affects cotreatment, increases expression	1
Sunitinib	increases expression	1
Vorinostat	increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Atrazine	decreases expression	1
Caffeine	decreases phosphorylation	1
Cisplatin	increases expression	1
Enzyme Inhibitors	decreases activity, increases O-linked glycosylation	1
Ethyl Methanesulfonate	decreases expression	1

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)