GATA1

Summary

GATA1 (GATA binding protein 1, HGNC:4170) is a protein-coding gene on chromosome Xp11.23, encoding Erythroid transcription factor (P15976). Transcriptional activator or repressor which serves as a general switch factor for erythroid development.

This gene encodes a protein which belongs to the GATA family of transcription factors. The protein plays an important role in erythroid development by regulating the switch of fetal hemoglobin to adult hemoglobin. Mutations in this gene have been associated with X-linked dyserythropoietic anemia and thrombocytopenia.

Source: NCBI Gene 2623 — RefSeq curated summary.

At a glance

• Gene–disease (curated): GATA1-Related X-Linked Cytopenia (Definitive, ClinGen) — +6 more curated relationships
• GWAS associations: 3
• Clinical variants (ClinVar): 432 total — 59 pathogenic, 16 likely-pathogenic
• Phenotypes (HPO): 140
• Dosage sensitivity (ClinGen): haploinsufficiency no evidence, triplosensitivity no evidence
• Transcription factor: yes — 163 downstream targets (CollecTRI)
• MANE Select transcript: NM_002049

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:4170
Approved symbol	GATA1
Name	GATA binding protein 1
Location	Xp11.23
Locus type	gene with protein product
Status	Approved
Aliases	ERYF1, NFE1, GATA-1, NF-E1
Ensembl gene	ENSG00000102145
Ensembl biotype	protein_coding
OMIM	305371
Entrez	2623

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 6 protein_coding

ENST00000376665, ENST00000376670, ENST00000651144, ENST00000696450, ENST00000696451, ENST00000696452

RefSeq mRNA: 1 — MANE Select: NM_002049 NM_002049

CCDS: CCDS14305

Canonical transcript exons

ENST00000376670 — 6 exons

Exon	Start	End
ENSE00000670935	48793172	48793297
ENSE00000670936	48792323	48792468
ENSE00000670938	48791844	48792221
ENSE00001471304	48791091	48791329
ENSE00003967425	48786590	48786645
ENSE00003967426	48793793	48794311

Expression profiles

Bgee: expression breadth ubiquitous, 138 present calls, max score 85.70.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 19.2489 / max 772.5573, expressed in 148 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
196286	16.7945	141
196285	1.4381	90
196287	1.0164	88

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
trabecular bone tissue	UBERON:0002483	85.70	gold quality
blood	UBERON:0000178	85.28	gold quality
bone marrow	UBERON:0002371	82.18	gold quality
monocyte	CL:0000576	81.20	gold quality
mononuclear cell	CL:0000842	80.92	gold quality
leukocyte	CL:0000738	79.93	gold quality
bone marrow cell	CL:0002092	74.47	gold quality
granulocyte	CL:0000094	70.12	gold quality
right lung	UBERON:0002167	68.07	gold quality
endometrium epithelium	UBERON:0004811	67.03	gold quality
sperm	CL:0000019	63.47	gold quality
upper lobe of left lung	UBERON:0008952	63.41	gold quality
male germ cell	CL:0000015	62.53	gold quality
tendon of biceps brachii	UBERON:0008188	61.59	gold quality
periodontal ligament	UBERON:0008266	61.53	gold quality
upper lobe of lung	UBERON:0008948	61.20	gold quality
endothelial cell	CL:0000115	59.79	gold quality
germinal epithelium of ovary	UBERON:0001304	59.08	gold quality
spleen	UBERON:0002106	58.89	gold quality
triceps brachii	UBERON:0001509	58.21	gold quality
gluteal muscle	UBERON:0002000	57.85	gold quality
upper leg skin	UBERON:0004262	57.27	silver quality
gall bladder	UBERON:0002110	56.20	gold quality
cerebellar vermis	UBERON:0004720	54.51	gold quality
tibialis anterior	UBERON:0001385	53.97	silver quality
lung	UBERON:0002048	53.71	gold quality
lower esophagus muscularis layer	UBERON:0035833	53.07	gold quality
lower esophagus	UBERON:0013473	53.03	gold quality
smooth muscle tissue	UBERON:0001135	52.98	gold quality
quadriceps femoris	UBERON:0001377	52.80	gold quality

Single-cell (SCXA)

Detected in 13 experiment(s), a significant marker in 13.

Experiment	Marker?	Max mean expression
E-MTAB-7407	yes	322.68
E-MTAB-9067	yes	319.48
E-CURD-6	yes	233.46
E-CURD-112	yes	162.13
E-MTAB-9801	yes	157.47
E-HCAD-4	yes	152.70
E-HCAD-6	yes	129.84
E-MTAB-10042	yes	36.30
E-CURD-122	yes	20.12
E-HCAD-10	yes	16.81
E-MTAB-6701	yes	9.89
E-MTAB-9388	yes	8.74
E-ANND-3	no	0.00

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

163 targets.

Target	Regulation
ADAM2
AGGF1	Activation
AHSP	Unknown
ALAS2	Unknown
AMY1A	Unknown
APOA1	Activation
BACE1	Unknown
BACH1	Activation
BCL2L1	Unknown
BDKRB1	Unknown
BIRC5	Unknown
BST2	Activation
BTG2	Activation
C1QA
CA1	Activation
CAT
CBFA2T3	Unknown
CBFB	Repression
CCL24	Activation
CCND1	Unknown
CCND2	Repression
CCR3	Unknown
CCR5	Repression
CD74
CD80	Repression
CD86	Repression
CDA	Activation
CDC6	Activation
CDK6	Repression
CDKN1A	Unknown

JASPAR motifs

Motif	Name	Family
MA0035.4	GATA1	C4-GATA-related
MA0035.5	GATA1	C4-GATA-related
MA0140.2	GATA1::TAL1	C4-GATA-related::Tal-related
MA0140.3	GATA1::TAL1	C4-GATA-related::Tal-related

JASPAR matrix evidence (PMIDs): PMID:23142663, PMID:20566737

Upstream regulators (CollecTRI, top): BCL11A, CBFB, CEBPE, DLX4, ETS1, ETS2, FLI1, GATA1, GATA2, GATA3, GFI1, HBP1, HIF1A, HMGA1, JUN, MECOM, MYB, MYBL1, MYC, MYCN, NR2C1, NR2C2, PKNOX1, POU2F1, RB1, RUNX1, SP1, SP3, SP7, SPI1, TFCP2, TP53, ZFAT, ZNF148

miRNA regulators (miRDB)

8 targeting GATA1, 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-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-498-5P	99.76	69.64	1807
HSA-MIR-12130	99.75	65.47	452
HSA-MIR-876-3P	98.76	68.23	945
HSA-MIR-198	98.70	67.32	920
HSA-MIR-4794	96.47	65.53	1063
HSA-MIR-664A-5P	95.84	64.93	949

Functional genomics

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

Literature-anchored findings (GeneRIF, showing 40)

• The nature of the amino acid substitution at position 218 of the Nf of GATA1 is of crucial importance in determining the severity of the phenotype in X-linked macrothrombocytopenia patients and possibly also in inducing skewed X inactivation. (PMID:11809723)
• Essential and instructive roles of GATA factors in eosinophil development. (PMID:12045236)
• GATA-1 and GATA-2 gene expression is related to the severity of dysplasia in myelodysplastic syndrome. (PMID:12145700)
• findings indicate that loss of wildtype GATA1 constitutes one step in the pathogenesis of acute megakaryoblastic leukemia in Down syndrome (PMID:12172547)
• with NF-E2, mediates expression of alpha-spectrin gene promoter in erythroid cells in vitro (PMID:12196550)
• X-linked thrombocytopenia with thalassemia from a mutation in the amino finger of GATA-1 affects DNA binding rather than FOG-1 interaction. (PMID:12200364)
• Interacts with other transcription factors to regulate transcription of the gene encoding eosinophil granule major basic protein. (PMID:12202480)
• role in regulating megakaryocyte-specific glycoprotein VI promoter (PMID:12359731)
• REVIEW: Roles of hematopoietic transcription factors GATA-1 and GATA-2 in the development of red blood cell lineage (PMID:12432220)
• Erythroid and megakaryocytic lineage differentiation and maturation are regulated via cooperation between transcription factor GATA1 and its essential cofactor FOG1. It depends on the binding of FOG1 to the N-terminal zinc finger of GATA1. (PMID:12483298)
• anthracyclines can induce the erythroid differentiation of neoplastic cells by activating the transcription factor GATA-1, probably via its clustering into nuclear foci. (PMID:12489695)
• levels of GATA-1 and gamma-globin mRNA were increased in cells treated with progesterone; data suggest interactions of steroid receptors with basal transcriptional machinery and with transcription factors might mediate their transcriptional effects (PMID:12490288)
• GATA1 is likely to play a critical role in the etiology of transient myeloproliferative disorder, and mutagenesis of GATA1 represents a very early event in DS myeloid leukemogenesis. (PMID:12560215)
• how RUNX1 might program divergence from the erythroid pathway to the megakaryocytic lineage commitment through functional and physical interactions with GATA-1 (PMID:12576332)
• Findings suggest a model of malignant transformation in Down syndrome AMKL in which GATA1 mutations are an early event and AMKL arises from latent TL clones following initial apparent remission. (PMID:12586620)
• EDRF1 regulated alpha- and gamma-globin gene synthesis by modulating DNA-binding activity of GATA-1 transcription factor. (PMID:12609092)
• findings suggest that acquired intrauterine inactivating mutations in GATA1 and generation of GATA1s cooperate frequently with trisomy 21 in initiating megakaryoblastic proliferation, but are insufficient for progression to AMKL. (PMID:12649131)
• Fli-1 and GATA-1 work together to activate the expression of genes associated with the terminal differentiation of megakaryocytes (PMID:12724402)
• expression of GATA-1 with a defective N-terminal activation domain contributes to the expansion of transient myeloproliferative disorder blast cells and other genetic changes contribute to the development of acute megakaryocytic leukemia in Down syndrome (PMID:12816863)
• GATA-1 instigates GATA-2 repression by means of disruption of positive autoregulation, followed by establishment of a domain-wide repressive chromatin structure. (PMID:12857954)
• GATA1 mutations in Down syndrome and its altered role in DS and myeloid leukemia may lead to an increased understanding of why children with DS are markedly predisposed to leukemia. (review) (PMID:14512321)
• Altogether, these results demonstrate for the first time the implication of GATA-1 in differentiation-specific variations of GSTP1-1 expression (PMID:14623254)
• GATA1 is likely to play a critical role in the etiology of myeloproliferative disorder and Down syndrome acute megakaryoblastic leukemia, and mutagenesis of GATA1 represents a very early event in DS myeloid leukemogenesis (PMID:14636651)
• Mutations in GATA1 occur in Down syndrome, acute Megakaryoblastic Leukemia amd myeloproliferative disorders. (PMID:14656875)
• GATA-1 has a role in erythropoiesis and megakaryocytopoiesis (PMID:14691578)
• Presence of several GATA1 binding sites in the CDAsf promoter and the uniform detection of GATA1 mutations in DS megakaryocytic leukemia suggested the potential role of GATA1 in regulating CDA transcription. (PMID:14744791)
• IL-1beta up-regulates expression in megakaryocytic cells (PMID:14966463)
• mode of vascular regulation in which GATA-1 controls NK-B synthesis in erythroid cells (PMID:15123623)
• Results suggest that the GATA-1 transcription factor represents a cell type-restricted mediator of interferon-gamma induction of the HLA-E gene. (PMID:15226423)
• some cis-elements regulating human and mouse GATA1 genes differ. (PMID:15265794)
• These results define a novel regulatory pathway linking the transcription factors c-Jun, HERP2, and GATA-1. (PMID:15314183)
• Ski cooperates in the process of transformation in erythroid cells by interfering with GATA1 function (PMID:15542823)
• Notch1 inhibits the development of erythroid/megakaryocytic cells by suppressing GATA-1 activity through HES1 (PMID:15563463)
• a multiprotein complex containing GATA-1, Oct-1, and other protein factors may contribute to the formation of a repressive chromatin structure that silences gamma-globin gene expression (PMID:15613485)
• 3D structure of a complex comprising the interaction domains of FOG1 and GATA1 reveals how zinc fingers can act as protein recognition motifs and provides a molecular explanation for how GATA-1 mutations contribute to distinct, related genetic diseases. (PMID:15644435)
• GATA1 protein reveals specific functions of a particular posttranscriptional modification[Review]. (PMID:15684376)
• results are consistent with GATA1 regulating some but not all pathways of platelet activation (PMID:15701726)
• We show that the dominant action of GATA1s leads to hyperproliferation of a unique, previously unrecognized yolk sac and fetal liver progenitor, which we propose accounts for the transient nature of TMD and the restriction of DS-AMKL to infants. (PMID:15895080)
• Mutated in acute myelocytic leukemia combined with acute lymphocytic leukemia in a case report. (PMID:16012335)
• identified an AHSP gene erythroid promoter with functionally important binding sites for GATA-1- and Oct-1-related proteins (PMID:16186125)

Cross-species orthologs

8 orthologs

Organism	Symbol	Gene ID
danio_rerio	gata1a	ENSDARG00000013477
mus_musculus	Gata1	ENSMUSG00000031162
rattus_norvegicus	Gata1	ENSRNOG00000047663
drosophila_melanogaster	grn	FBGN0001138
drosophila_melanogaster	srp	FBGN0003507
drosophila_melanogaster	GATAd	FBGN0032223
caenorhabditis_elegans		WBGENE00001250
caenorhabditis_elegans		WBGENE00001252

Paralogs (7): TRPS1 (ENSG00000104447), GATA3 (ENSG00000107485), GATA5 (ENSG00000130700), GATA4 (ENSG00000136574), GATA6 (ENSG00000141448), GATA2 (ENSG00000179348), ZGLP1 (ENSG00000220201)

Protein

Protein identifiers

Erythroid transcription factor — P15976 (reviewed: P15976)

Alternative names: Eryf1, GATA-binding factor 1, NF-E1 DNA-binding protein

All UniProt accessions (5): P15976, A0A8Q3SIN3, A0A8Q3SIP6, A0A8Q3SIT6, B7WNQ9

UniProt curated annotations — full annotation on UniProt →

Function. Transcriptional activator or repressor which serves as a general switch factor for erythroid development. It binds to DNA sites with the consensus sequence 5’-[AT]GATA[AG]-3’ within regulatory regions of globin genes and of other genes expressed in erythroid cells. Activates the transcription of genes involved in erythroid differentiation of K562 erythroleukemia cells, including HBB, HBG1/2, ALAS2 and HMBS.

Subunit / interactions. May form homodimers or heterodimers with other isoforms. Interacts (via the N-terminal zinc finger) with ZFPM1. Interacts with GFI1B. Interacts with PIAS4; the interaction enhances sumoylation and represses the transactivational activity in a sumoylation-independent manner. Interacts with LMCD1. Interacts with BRD3. Interacts with CREBBP; the interaction stimulates acetylation and transcriptional activity in vivo. Interacts with EP300. Interacts with MED1, CCAR1 and CALCOCO1. Interacts with CEBPE.

Subcellular location. Nucleus.

Tissue specificity. Erythrocytes.

Post-translational modifications. Highly phosphorylated on serine residues. Phosphorylation on Ser-310 is enhanced on erythroid differentiation. Phosphorylation on Ser-142 promotes sumoylation on Lys-137. Sumoylation on Lys-137 is enhanced by phosphorylation on Ser-142 and by interaction with PIAS4. Sumoylation with SUMO1 has no effect on transcriptional activity. Acetylated at 2 conserved lysine-rich motifs by CREBBP in vitro. Acetylation does not affect DNA-binding in vitro but is essential to induce erythroid differentiation and for binding chromatin in vivo. Acetylated on Lys-233, Lys-245 Lys-246 by EP300.

Disease relevance. X-linked dyserythropoietic anemia and thrombocytopenia (XDAT) [MIM:300367] Disorder characterized by erythrocytes with abnormal size and shape, and paucity of platelets in peripheral blood. The bone marrow contains abundant and abnormally small megakaryocytes. The disease is caused by variants affecting the gene represented in this entry. Thrombocytopenia with beta-thalassemia, X-linked (XLTT) [MIM:314050] An unusual form of thrombocytopenia associated with beta-thalassemia. Patients have splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and unbalanced (hemo)globin chain synthesis resembling that of beta-thalassemia minor. The disease is caused by variants affecting the gene represented in this entry. Anemia without thrombocytopenia, X-linked (XLAWT) [MIM:300835] A form of anemia characterized by abnormal morphology of erythrocytes and granulocytes in peripheral blood, bone marrow dysplasia with hypocellularity of erythroid and granulocytic lineages, and normal or increased number of megakaryocytes. Neutropenia of a variable degree is present in affected individuals. The disease is caused by variants affecting the gene represented in this entry. Anemia, congenital, non-spherocytic hemolytic, 9 (CNSHA9) [MIM:301083] An X-linked disorder characterized by onset of mild to moderate red cell anemia soon after birth or in childhood. The anemia is associated with significantly increased adenosine deaminase activity, specifically in erythrocyte precursors. The disease is caused by variants affecting the gene represented in this entry.

Domain organisation. The two fingers are functionally distinct and cooperate to achieve specific, stable DNA binding. The first finger is necessary only for full specificity and stability of binding, whereas the second one is required for binding.

Miscellaneous. Produced by alternative initiation at Met-84 of isoform 1.

Isoforms (3)

UniProt ID	Names	Canonical?
P15976-1	1	yes
P15976-2	2
P15976-3	3, GATA-1s

RefSeq proteins (1): NP_002040* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000679	Znf_GATA	Domain
IPR013088	Znf_NHR/GATA	Homologous_superfamily
IPR039355	Transcription_factor_GATA	Family

Pfam: PF00320

UniProt features (39 total): modified residue 17, sequence variant 7, region of interest 4, mutagenesis site 4, zinc finger region 2, splice variant 2, chain 1, cross-link 1, compositionally biased region 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
6G0Q	X-RAY DIFFRACTION	1.4

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P15976-F1	59.48	0.19

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 (18): 116, 131, 142, 178, 187, 233, 245, 246, 246, 252, 308, 310, 312, 314, 315, 137, 26, 72

Mutagenesis-validated functional residues (4):

Position	Phenotype
137	abolishes sumoylation.
142	loss of sumoylation.
142	increased sumoylation in vitro.
204	increase of dissociation rate from bound dna.

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-8936459	RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function
R-HSA-8939236	RUNX1 regulates transcription of genes involved in differentiation of HSCs
R-HSA-983231	Factors involved in megakaryocyte development and platelet production

MSigDB gene sets: 0 (showing top):

GO Biological Process (48): negative regulation of transcription by RNA polymerase II (GO:0000122), in utero embryonic development (GO:0001701), transcription by RNA polymerase II (GO:0006366), positive regulation of cytosolic calcium ion concentration (GO:0007204), cell-cell signaling (GO:0007267), negative regulation of cell population proliferation (GO:0008285), male gonad development (GO:0008584), regulation of glycoprotein biosynthetic process (GO:0010559), regulation of definitive erythrocyte differentiation (GO:0010724), regulation of primitive erythrocyte differentiation (GO:0010725), erythrocyte differentiation (GO:0030218), megakaryocyte differentiation (GO:0030219), platelet formation (GO:0030220), basophil differentiation (GO:0030221), eosinophil differentiation (GO:0030222), bone mineralization (GO:0030282), negative regulation of bone mineralization (GO:0030502), animal organ regeneration (GO:0031100), myeloid cell apoptotic process (GO:0033028), negative regulation of myeloid cell apoptotic process (GO:0033033), osteoblast proliferation (GO:0033687), positive regulation of osteoblast proliferation (GO:0033690), eosinophil fate commitment (GO:0035854), negative regulation of apoptotic process (GO:0043066), positive regulation of mast cell degranulation (GO:0043306), cell fate commitment (GO:0045165), positive regulation of erythrocyte differentiation (GO:0045648), positive regulation of DNA-templated transcription (GO:0045893), positive regulation of transcription by RNA polymerase II (GO:0045944), erythrocyte development (GO:0048821), homeostasis of number of cells within a tissue (GO:0048873), Sertoli cell development (GO:0060009), primitive erythrocyte differentiation (GO:0060319), platelet aggregation (GO:0070527), cellular response to lipopolysaccharide (GO:0071222), cellular response to cAMP (GO:0071320), cellular response to follicle-stimulating hormone stimulus (GO:0071372), dendritic cell differentiation (GO:0097028), negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240), regulation of DNA-templated transcription (GO:0006355)

GO Molecular Function (20): transcription cis-regulatory region binding (GO:0000976), RNA polymerase II transcription regulatory region sequence-specific DNA binding (GO:0000977), RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), transcription coregulator binding (GO:0001221), transcription coactivator binding (GO:0001223), DNA-binding transcription activator activity, RNA polymerase II-specific (GO:0001228), p53 binding (GO:0002039), DNA binding (GO:0003677), DNA-binding transcription factor activity (GO:0003700), zinc ion binding (GO:0008270), chromatin DNA binding (GO:0031490), sequence-specific DNA binding (GO:0043565), RNA polymerase II-specific DNA-binding transcription factor binding (GO:0061629), C2H2 zinc finger domain binding (GO:0070742), sequence-specific double-stranded DNA binding (GO:1990837), cis-regulatory region sequence-specific DNA binding (GO:0000987), chromatin binding (GO:0003682), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (6): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), transcription regulator complex (GO:0005667), transcription repressor complex (GO:0017053), protein-DNA complex (GO:0032993)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Transcriptional regulation by RUNX1	2
Hemostasis	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
myeloid cell differentiation	3
transcription cis-regulatory region binding	3
RNA polymerase II transcription regulatory region sequence-specific DNA binding	3
regulation of transcription by RNA polymerase II	2
regulation of erythrocyte differentiation	2
granulocyte differentiation	2
DNA binding	2
binding	2
cellular anatomical structure	2
protein-containing complex	2
transcription by RNA polymerase II	1
negative regulation of DNA-templated transcription	1
chordate embryonic development	1
DNA-templated transcription	1
regulation of biological quality	1
cell communication	1
signaling	1
cell population proliferation	1
regulation of cell population proliferation	1
negative regulation of cellular process	1
gonad development	1
development of primary male sexual characteristics	1
glycoprotein biosynthetic process	1
regulation of macromolecule biosynthetic process	1
regulation of glycoprotein metabolic process	1
definitive erythrocyte differentiation	1
primitive erythrocyte differentiation	1
erythrocyte homeostasis	1
platelet morphogenesis	1
anatomical structure formation involved in morphogenesis	1
cell development	1
ossification	1
biomineral tissue development	1
negative regulation of ossification	1
bone mineralization	1
regulation of bone mineralization	1
negative regulation of biomineral tissue development	1
regeneration	1
animal organ development	1
apoptotic process	1

Protein interactions and networks

STRING

4514 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GATA1	ZFPM1	Q8IX07	999
GATA1	TAL1	P17542	998
GATA1	LMO2	P25791	996
GATA1	LDB1	Q86U70	996
GATA1	LDB2	O43679	995
GATA1	SPI1	P17947	992
GATA1	TCF3	P15883	991
GATA1	KLF1	Q13351	986
GATA1	BRD3	Q15059	986
GATA1	RUNX1	Q01196	978
GATA1	GATA2	P23769	974
GATA1	CBFA2T3	O75081	946
GATA1	EP300	Q09472	939
GATA1	SOX6	P35712	916
GATA1	IKZF1	Q13422	906

IntAct

96 interactions, top by confidence:

A	B	Type	Score
MED1	GATA1	psi-mi:“MI:0407”(direct interaction)	0.580
MED1	GATA1	psi-mi:“MI:0915”(physical association)	0.580
GATA1	TRIP6	psi-mi:“MI:0914”(association)	0.570
FRS3	GATA1	psi-mi:“MI:0915”(physical association)	0.560
GATA1	PRKAB2	psi-mi:“MI:0915”(physical association)	0.560
HOXA1	GATA1	psi-mi:“MI:0915”(physical association)	0.560
KRTAP10-5	GATA1	psi-mi:“MI:0915”(physical association)	0.560
CCDC24	GATA1	psi-mi:“MI:0915”(physical association)	0.560
GATA1	FBF1	psi-mi:“MI:0915”(physical association)	0.560
RADIL	GATA1	psi-mi:“MI:0915”(physical association)	0.560
GATA1	HEXIM2	psi-mi:“MI:0915”(physical association)	0.560
KRTAP9-2	GATA1	psi-mi:“MI:0915”(physical association)	0.560
GATA1	FRS3	psi-mi:“MI:0915”(physical association)	0.560
GATA1	HOXA1	psi-mi:“MI:0915”(physical association)	0.560
GATA1	CCDC24	psi-mi:“MI:0915”(physical association)	0.560
FBF1	GATA1	psi-mi:“MI:0915”(physical association)	0.560
GATA1	RADIL	psi-mi:“MI:0915”(physical association)	0.560
GATA1	KRTAP10-5	psi-mi:“MI:0915”(physical association)	0.560
HEXIM2	GATA1	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (200): GATA1 (Biochemical Activity), HOXA1 (Two-hybrid), PRKAB2 (Two-hybrid), FRS3 (Two-hybrid), RADIL (Two-hybrid), KRTAP9-2 (Two-hybrid), FBF1 (Two-hybrid), HEXIM2 (Two-hybrid), CCDC24 (Two-hybrid), KRTAP10-5 (Two-hybrid), GATA1 (Two-hybrid), DHX36 (Affinity Capture-MS), TRIP6 (Affinity Capture-MS), GATA1 (Two-hybrid), GATA1 (Two-hybrid)

ESM2 similar proteins: A1XSY8, O08656, O43474, P08046, P08151, P08152, P08154, P09022, P09027, P10070, P11161, P13360, P15976, P17679, P18146, P19544, P22561, P26632, P26633, P31249, P40656, P43300, P43301, P43429, P46153, P47806, P49639, P49952, P50476, P51774, Q05159, Q06889, Q07424, Q08427, Q0VGT2, Q29W20, Q60793, Q61169, Q6NW96, Q6P0J3

Diamond homologs: B4XXY3, B7WN96, G5EB20, G5EGF4, G5EGN3, N4XMB0, O09100, O13412, O13415, O13508, O61924, O94720, P15976, P17429, P17678, P17679, P19212, P23767, P23768, P23769, P23770, P23771, P23772, P23773, P23824, P23825, P26343, P28515, P40349, P42944, P43429, P43574, P43691, P43692, P43693, P43694, P43695, P43696, P46152, P46153

SIGNOR signaling

47 interactions.

A	Effect	B	Mechanism
AKT1	up-regulates	GATA1	phosphorylation
GATA1	“down-regulates quantity by repression”	ZNF268	“transcriptional regulation”
AKT	up-regulates	GATA1	phosphorylation
GATA1	“down-regulates quantity by repression”	HBG2	“transcriptional regulation”
GATA1	“down-regulates quantity by repression”	HBG1	“transcriptional regulation”
GATA1	“up-regulates quantity by expression”	SPTA1	“transcriptional regulation”
GATA1	“up-regulates quantity by expression”	RUNX1T1	“transcriptional regulation”
GATA1	“up-regulates quantity by expression”	GP6	“transcriptional regulation”
GATA1	“up-regulates quantity by expression”	GP9	“transcriptional regulation”
GATA1	“up-regulates quantity by expression”	MPL	“transcriptional regulation”
GATA1	“up-regulates quantity by expression”	AGGF1	“transcriptional regulation”
GATA1	“up-regulates quantity by expression”	GP1BA	“transcriptional regulation”
GATA1	“up-regulates quantity by expression”	ITGA2B	“transcriptional regulation”
GATA1	“up-regulates activity”	RUNX1	binding
GATA1	“up-regulates quantity by expression”	FCER1A	“transcriptional regulation”
GATA1	“up-regulates quantity by expression”	GFI1B	“transcriptional regulation”
GATA1	“down-regulates quantity by repression”	HOXA10	“transcriptional regulation”
DAB2IP	“up-regulates activity”	GATA1	binding
GATA1	“down-regulates quantity by repression”	KIT	“transcriptional regulation”
GATA1	“down-regulates activity”	SPI1	binding
GATA1	“up-regulates quantity by expression”	FLI1	“transcriptional regulation”
GATA2	“up-regulates quantity by expression”	GATA1	“transcriptional regulation”
GATA1	“up-regulates quantity by expression”	GATA1	“transcriptional regulation”
GATA1	“down-regulates quantity by repression”	GATA2	“transcriptional regulation”
GATA1	“up-regulates activity”	ZFPM1	binding
GATA1	“up-regulates quantity”	CYBB	“transcriptional regulation”
GATA1	“up-regulates quantity by expression”	NBEAL2	“transcriptional regulation”

Disease & clinical

Cancer significance

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	59
Likely pathogenic	16
Uncertain significance	189
Likely benign	96
Benign	27

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
10423	NM_002049.4(GATA1):c.613G>A (p.Val205Met)	Pathogenic
10425	NM_002049.4(GATA1):c.622_623delinsTC (p.Gly208Ser)	Pathogenic
10426	NM_002049.4(GATA1):c.184_187dup (p.Tyr63fs)	Pathogenic
10427	NM_002049.4(GATA1):c.652G>T (p.Asp218Tyr)	Pathogenic
10428	NM_002049.4(GATA1):c.647G>A (p.Arg216Gln)	Pathogenic
10429	NM_002049.4(GATA1):c.154_173dup (p.Ala59fs)	Pathogenic
1068556	NM_002049.4(GATA1):c.231_232dup (p.Tyr78fs)	Pathogenic
1068653	NM_002049.4(GATA1):c.3G>T (p.Met1Ile)	Pathogenic
1068952	NM_002049.4(GATA1):c.105dup (p.Ser36fs)	Pathogenic
1070439	NM_002049.4(GATA1):c.157_158insTG (p.Ala53fs)	Pathogenic
1414934	NM_002049.4(GATA1):c.192_196del (p.Arg64fs)	Pathogenic
1428144	NM_002049.4(GATA1):c.173_174insCGCTGCGC (p.Leu60fs)	Pathogenic
150422	GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1	Pathogenic
156266	NM_002049.4(GATA1):c.220G>C (p.Val74Leu)	Pathogenic
1703852	NM_002049.4(GATA1):c.865C>T (p.His289Tyr)	Pathogenic
2031831	NM_002049.4(GATA1):c.169_170insTG (p.Ala57fs)	Pathogenic
2090004	NM_002049.4(GATA1):c.164_174dup (p.Ala59fs)	Pathogenic
2111449	NM_002049.4(GATA1):c.122_165del (p.Leu41fs)	Pathogenic
2125356	NM_002049.4(GATA1):c.155_174dup (p.Ala59fs)	Pathogenic
2424348	NC_000023.10:g.(?48542243)(48652571_?)del	Pathogenic
2500744	NM_002049.4(GATA1):c.470_471del (p.Pro157fs)	Pathogenic
2578025	NM_002049.4(GATA1):c.886A>C (p.Thr296Pro)	Pathogenic
2941504	NM_002049.4(GATA1):c.186C>G (p.Tyr62Ter)	Pathogenic
2944455	NM_002049.4(GATA1):c.71_92dup (p.Phe33fs)	Pathogenic
2945727	NM_002049.4(GATA1):c.194_206del (p.Asp65fs)	Pathogenic
2948168	NM_002049.4(GATA1):c.125_146del (p.Asp42fs)	Pathogenic
2950118	NM_002049.4(GATA1):c.182_183insGTGC (p.Tyr62fs)	Pathogenic
2952845	NM_002049.4(GATA1):c.-4_21del (p.Met1fs)	Pathogenic
2952846	NM_002049.4(GATA1):c.220+1G>T	Pathogenic
31942	NM_002049.4(GATA1):c.220+1del	Pathogenic

SpliceAI

493 predictions. Top by Δscore:

Variant	Effect	Δscore
X:48792314:C:G	acceptor_gain	1.0000
X:48792321:A:AG	acceptor_gain	1.0000
X:48792322:G:GG	acceptor_gain	1.0000
X:48793167:CCTA:C	acceptor_loss	1.0000
X:48793169:TA:T	acceptor_loss	1.0000
X:48793170:A:AG	acceptor_gain	1.0000
X:48793171:G:GG	acceptor_gain	1.0000
X:48793171:GATT:G	acceptor_gain	1.0000
X:48791086:CGCA:C	acceptor_loss	0.9900
X:48791087:GCAG:G	acceptor_loss	0.9900
X:48791088:CAG:C	acceptor_loss	0.9900
X:48791325:CCCAG:C	donor_loss	0.9900
X:48791327:CAGGT:C	donor_loss	0.9900
X:48791328:AGGT:A	donor_loss	0.9900
X:48791329:GGTAA:G	donor_loss	0.9900
X:48791330:G:GA	donor_loss	0.9900
X:48791331:T:G	donor_loss	0.9900
X:48791824:T:G	acceptor_gain	0.9900
X:48791829:A:AG	acceptor_gain	0.9900
X:48791830:C:G	acceptor_gain	0.9900
X:48791842:A:AG	acceptor_gain	0.9900
X:48791843:G:GA	acceptor_gain	0.9900
X:48791843:GT:G	acceptor_gain	0.9900
X:48791843:GTC:G	acceptor_gain	0.9900
X:48792043:GC:G	donor_gain	0.9900
X:48792044:C:G	donor_gain	0.9900
X:48792069:G:GT	donor_gain	0.9900
X:48792313:A:AG	acceptor_gain	0.9900
X:48792318:A:AG	acceptor_gain	0.9900
X:48792319:C:G	acceptor_gain	0.9900

AlphaMissense

2601 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
X:48792334:T:A	C204S	1.000
X:48792334:T:C	C204R	1.000
X:48792335:G:A	C204Y	1.000
X:48792335:G:C	C204S	1.000
X:48792335:G:T	C204F	1.000
X:48792336:T:G	C204W	1.000
X:48792342:C:A	N206K	1.000
X:48792342:C:G	N206K	1.000
X:48792343:T:A	C207S	1.000
X:48792343:T:C	C207R	1.000
X:48792343:T:G	C207G	1.000
X:48792344:G:A	C207Y	1.000
X:48792344:G:C	C207S	1.000
X:48792344:G:T	C207F	1.000
X:48792345:C:G	C207W	1.000
X:48792359:C:T	T212I	1.000
X:48792365:T:A	L214Q	1.000
X:48792365:T:C	L214P	1.000
X:48792367:T:A	W215R	1.000
X:48792367:T:C	W215R	1.000
X:48792368:G:C	W215S	1.000
X:48792369:G:C	W215C	1.000
X:48792369:G:T	W215C	1.000
X:48792371:G:C	R216P	1.000
X:48792377:A:T	D218V	1.000
X:48792386:G:T	G221V	1.000
X:48792395:T:C	L224P	1.000
X:48792397:T:A	C225S	1.000
X:48792397:T:C	C225R	1.000
X:48792398:G:A	C225Y	1.000

dbSNP variants (sampled 300 via entrez): RS1000294498 (X:48788632 G>A), RS1002307724 (X:48793521 T>C), RS1003174822 (X:48794756 T>C), RS1003370502 (X:48785653 T>C), RS1004238521 (X:48787324 C>T), RS1004374552 (X:48787740 T>C), RS1004436762 (X:48788144 G>A,T), RS1005252003 (X:48789474 A>G), RS1007314672 (X:48794441 A>T), RS1007343451 (X:48785029 A>C), RS1009350195 (X:48789206 C>T), RS1009471392 (X:48788740 G>A), RS1009868215 (X:48791578 C>T), RS1012009323 (X:48785704 C>G), RS1012389468 (X:48786105 G>A)

Disease associations

OMIM: gene MIM:305371 | disease phenotypes: MIM:159595, MIM:300367, MIM:300835, MIM:314050, MIM:105650, MIM:102730, MIM:301083, MIM:190685, MIM:263700

GenCC curated gene-disease

Disease	Classification	Inheritance
GATA1-Related X-Linked Cytopenia	Definitive	X-linked
thrombocytopenia, X-linked, with or without dyserythropoietic anemia	Strong	X-linked
Diamond-Blackfan anemia	Strong	X-linked
beta-thalassemia-X-linked thrombocytopenia syndrome	Moderate	X-linked
X-linked dyserythropoetic anemia with abnormal platelets and neutropenia	Supportive	X-linked
thrombocytopenia with congenital dyserythropoietic anemia	Supportive	X-linked
cutaneous porphyria	Supportive	Autosomal recessive

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
GATA1-Related X-Linked Cytopenia	Definitive	XL

Mondo (14): transient myeloproliferative syndrome (MONDO:0008040), thrombocytopenia, X-linked, with or without dyserythropoietic anemia (MONDO:0010308), X-linked dyserythropoetic anemia with abnormal platelets and neutropenia (MONDO:0010444), beta-thalassemia-X-linked thrombocytopenia syndrome (MONDO:0010745), Diamond-Blackfan anemia (MONDO:0015253), hemolytic anemia due to erythrocyte adenosine deaminase overproduction (MONDO:0020458), GATA1-Related X-Linked Cytopenia (MONDO:0100089), thrombocytopenia (MONDO:0002049), acute megakaryoblastic leukemia (MONDO:0018872), Down syndrome (MONDO:0008608), cutaneous porphyria (MONDO:0009902), acute megakaryoblastic leukemia in down syndrome (MONDO:0020526), anemia (MONDO:0002280), thrombocytopenia with congenital dyserythropoietic anemia (MONDO:0019031)

Orphanet (10): Diamond-Blackfan anemia (Orphanet:124), Beta-thalassemia-X-linked thrombocytopenia syndrome (Orphanet:231393), X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (Orphanet:363727), Transient myeloproliferative syndrome (Orphanet:420611), Thrombocytopenia with congenital dyserythropoietic anemia (Orphanet:67044), Hemolytic anemia due to erythrocyte adenosine deaminase overproduction (Orphanet:99138), Acute megakaryoblastic leukemia (Orphanet:518), Down syndrome (Orphanet:870), Congenital erythropoietic porphyria (Orphanet:79277), Acute megakaryoblastic leukemia in children with Down syndrome (Orphanet:99887)

HPO phenotypes

140 total (30 of 140 shown, HPO-id order):

HPO	Term
HP:0000028	Cryptorchidism
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:0000421	Epistaxis
HP:0000431	Wide nasal bridge
HP:0000465	Webbed neck
HP:0000470	Short neck
HP:0000486	Strabismus
HP:0000508	Ptosis
HP:0000519	Developmental cataract
HP:0000618	Blindness
HP:0000656	Ectropion
HP:0000912	Sprengel anomaly
HP:0000938	Osteopenia
HP:0000939	Osteoporosis
HP:0000953	Hyperpigmentation of the skin
HP:0000967	Petechiae
HP:0000969	Edema
HP:0000978	Bruising susceptibility

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST90002381_500	Eosinophil count	1.000000e-29
GCST90002381_501	Eosinophil count	5.000000e-09
GCST90002382_521	Eosinophil percentage of white cells	1.000000e-41

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004842	eosinophil count
EFO:0007991	eosinophil percentage of leukocytes

MeSH disease descriptors (9)

Descriptor	Name	Tree numbers
D000740	Anemia	C15.378.050
D029503	Anemia, Diamond-Blackfan	C15.378.050.085.080.090; C15.378.050.750.500; C15.378.190.223.500.500.090; C16.320.077.090
D004314	Down Syndrome	C10.597.606.360.220; C16.131.077.327; C16.131.260.260; C16.320.180.260
D007947	Leukemia, Megakaryoblastic, Acute	C04.557.337.539.275.450; C15.378.508.539.275.450
D017092	Porphyria, Erythropoietic	C16.320.850.738; C17.800.827.738; C18.452.811.250
D013921	Thrombocytopenia	C15.378.140.855; C15.378.243.937
C566314	Adenosine Deaminase, Elevated, Hemolytic Anemia Due To (supp.)
C563551	Myeloproliferative Syndrome, Transient (supp.)
C564050	Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Hemin	increases reaction, decreases reaction, affects expression, decreases expression, increases expression	4
hydroquinone	decreases reaction, increases expression, affects binding, decreases expression	3
Butyric Acid	decreases reaction, increases expression	3
hydroxyhydroquinone	affects methylation, decreases reaction, increases expression	2
catechol	increases expression, increases reaction	2
Decitabine	affects cotreatment, increases expression, decreases reaction	2
Doxorubicin	affects binding, increases reaction, increases activity, increases expression	2
Quercetin	increases expression, affects cotreatment, decreases reaction	2
Zidovudine	decreases activity, decreases expression	2
Aclarubicin	decreases reaction, increases expression, affects binding, increases reaction, increases activity	2
Phenol	decreases reaction, increases expression	2
trichostatin A	increases expression, affects cotreatment	1
arsenite	decreases methylation	1
cobaltous chloride	decreases expression	1
pyrrolidine dithiocarbamic acid	decreases reaction, increases expression	1
anagrelide	decreases reaction, increases expression	1
lysophosphatidic acid	increases reaction, decreases reaction, affects cotreatment, increases expression	1
arsenic disulfide	increases expression	1
tellimagrandin I	decreases reaction, increases expression, decreases expression	1
CGP 52608	affects binding, increases reaction	1
chebulinic acid	decreases expression, decreases reaction, increases expression	1
pomalidomide	decreases expression	1
bisphenol S	decreases methylation	1
(+)-JQ1 compound	decreases expression	1
Arsenic Trioxide	decreases expression	1
Vorinostat	increases expression	1
Acetylcysteine	decreases reaction, increases expression	1
Allergens	increases expression	1
Arsenic	affects binding, decreases activity, decreases reaction	1
Ascorbic Acid	affects cotreatment, increases expression	1

Cellosaurus cell lines

11 cell lines: 6 cancer cell line, 3 embryonic stem cell, 2 induced pluripotent stem cell

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_A107	KPAM1	Cancer cell line	Female
CVCL_A2F1	SEES3-1V human GATA1, clone1	Embryonic stem cell	Male
CVCL_A2F2	SEES3-1V human GATA1, clone2	Embryonic stem cell	Male
CVCL_A2F3	SEES3-1V human GATA1, clone3	Embryonic stem cell	Male
CVCL_B8GP	Abcam HCT 116 GATA1 KO	Cancer cell line	Male
CVCL_B8W8	Abcam MCF-7 GATA1 KO	Cancer cell line	Female
CVCL_B9IX	Abcam A-549 GATA1 KO	Cancer cell line	Male
CVCL_C1NU	CHOPi008-A	Induced pluripotent stem cell	Male
CVCL_C1NV	CHOPi008-B	Induced pluripotent stem cell	Male
CVCL_S965	HSC-GRW	Cancer cell line	Sex unspecified

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00673608	PHASE4	COMPLETED	Magnetic Resonance Imaging (MRI) Assessments of the Heart and Liver Iron Load in Patients With Transfusion Induced Iron Overload
NCT03522207	PHASE4	TERMINATED	Accuracy and Efficacy of Trazodone (Desyrel) on Sleep Quality and Pain Management of TMD Patient
NCT07401745	PHASE4	ACTIVE_NOT_RECRUITING	Occlusal Splint Combined With Granisetron Injection for Management of Myofascial Pain Related to Temporomandibular Disorders
NCT00039858	PHASE4	COMPLETED	Evaluation of Argatroban Injection in Pediatric Patients Requiring Anticoagulant Alternatives to Heparin
NCT00239733	PHASE4	TERMINATED	Anti-D for Treating Thrombocytopenia in Adults Infected With Hepatitis C Virus With or Without HIV Co-Infection
NCT00907478	PHASE4	COMPLETED	Study on Bone Marrow Morphology in Adults Receiving Romiplostim for Treatment of Thrombocytopenia Associated With Immune Thrombocytopenia Purpura (ITP)
NCT01727401	PHASE4	TERMINATED	Thromboprophylaxis of Venous Thromboembolism in Acutely-ill Medical Inpatients With Thrombocytopenia
NCT02032134	PHASE4	TERMINATED	Protocol for the Infusion of Buffy Coat-derived Cryopreserved Platelets in Patients With Severe Thrombocytopenia
NCT02267993	PHASE4	COMPLETED	Efficacy and Safety of rhTPO for the Treatment of Thrombocytopenia After Chemotherapy in AML Patients
NCT03633019	PHASE4	UNKNOWN	High-dose Use of rhTPO in CIT Patients
NCT03688191	PHASE4	UNKNOWN	Study of Sirolimus in CTD-TP in China
NCT04906083	PHASE4	UNKNOWN	Avatrombopag in Patients With End-stage Liver Disease and Thrombocytopenia
NCT05217719	PHASE4	UNKNOWN	Effects of Recombinant Human Thrombopoietin on Platelet Levels in ICU Patients
NCT05255003	PHASE4	RECRUITING	STrategies for Anticoagulation in Patients With thRombocytopenia and Cancer-associated Thrombosis
NCT05382013	PHASE4	UNKNOWN	Efficacy and Safety of Avatrombopag for Treating TCP in HBV-ACLF Patients Receiving ALSS Treatment
NCT05944458	PHASE4	COMPLETED	Efficacy of Intravenous N-Acetylcysteine in Preventing Linezolid-Induced Thrombocytopenia in Critically Ill Patients
NCT06562738	PHASE4	RECRUITING	Clinical Study on Efficacy and Safety of Hetrombopag in the Preoperative Patients of Thrombocytopenia
NCT00235391	PHASE3	COMPLETED	Expanded Access of Deferasirox to Patients With Congenital Disorders of Red Blood Cells and Chronic Iron Overload
NCT00037791	PHASE3	COMPLETED	Safety and Efficacy of (PN-152,243)/PN-196,444 in the Prevention of Thrombocytopenia
NCT00039910	PHASE3	COMPLETED	Safety and Efficacy of (PN-152,243)/PN-196,444 in the Prevention of Thrombocytopenia
NCT00073580	PHASE3	COMPLETED	Angiomax in Patients With HIT/HITTS Type II Undergoing Off-Pump Coronary Artery Bypass Grafting (CABG) (CHOOSE)
NCT00102323	PHASE3	COMPLETED	AMG 531 Treatment of Thrombocytopenic Subjects With Immune (Idiopathic) Thrombocytopenic Purpura (ITP) Refractory to Splenectomy
NCT00102336	PHASE3	COMPLETED	AMG 531 Treatment of Thrombocytopenic Subjects With Immune (Idiopathic) Thrombocytopenic Purpura (ITP) Prior to Splenectomy
NCT00116688	PHASE3	COMPLETED	Open Label Extension Study of Romiplostim (AMG 531) in Thrombocytopenic Patients With Immune (Idiopathic) Thrombocytopenic Purpura (ITP)
NCT00128713	PHASE3	COMPLETED	Optimal Platelet Dose Strategy for Management of Thrombocytopenia
NCT00151866	PHASE3	COMPLETED	Efficacy of Transfusions With Platelets Stored in Platelet Additive Solution II Versus Plasma
NCT00261924	PHASE3	COMPLETED	Efficacy and Safety Study of Platelets Treated for Pathogen Inactivation and Stored for Up to Seven Days
NCT00415532	PHASE3	COMPLETED	Romiplostim (AMG 531) Versus Medical Standard of Care for Immune (Idiopathic) Thrombocytopenic Purpura
NCT00420914	PHASE3	TERMINATED	Strategies for Transfusion of Platelets (SToP)
NCT00501345	PHASE3	TERMINATED	Aspirin in Patients With Myocardial Infarction and Thrombocytopenia
NCT00508820	PHASE3	COMPLETED	An Open Label Study of Romiplostim in Adult Thrombocytopenic Subjects With ITP
NCT00678587	PHASE3	TERMINATED	Eltrombopag To Reduce The Need For Platelet Transfusion In Subjects With Chronic Liver Disease And Thrombocytopenia Undergoing Elective Invasive Procedures
NCT01438840	PHASE3	COMPLETED	Efficacy and Safety of Oral E5501 Plus Standard of Care for the Treatment of Thrombocytopenia in Adults With Chronic Immune Thrombocytopenia (Amendment 02)
NCT01444417	PHASE3	COMPLETED	Safety and Efficacy Study of Romiplostim to Treat Immune Thrombocytopenia (ITP) in Pediatric Patients
NCT01805648	PHASE3	UNKNOWN	Efficacy and Safety Study of Maintenance Treatment With rhTPO in Thrombocytopenic Subjects With ITP
NCT02244658	PHASE3	UNKNOWN	Recombinant Human Thrombopoietin (rhTPO) in Management of Chemotherapy-induced Thrombocytopenia in Acute Myelocytic Leukemia
NCT02389621	PHASE3	COMPLETED	Safety and Efficacy Study of Lusutrombopag for Thrombocytopenia in Patients With Chronic Liver Disease Undergoing Elective Invasive Procedures
NCT02444728	PHASE3	TERMINATED	Cyclophosphamide and Hydroxychloroquine for Thrombocytopenia in SLE
NCT02487563	PHASE3	COMPLETED	Prospective Study of Patients With Thrombocytopenia Following HSCT
NCT02578901	PHASE3	COMPLETED	American Trial Using Tranexamic Acid in Thrombocytopenia