GATA3

gene
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Also known as HDR

Summary

GATA3 (GATA binding protein 3, HGNC:4172) is a protein-coding gene on chromosome 10p14, encoding Trans-acting T-cell-specific transcription factor GATA-3 (P23771). Transcriptional activator which binds to the enhancer of the T-cell receptor alpha and delta genes. It is haploinsufficient (ClinGen: sufficient evidence).

This gene encodes a protein which belongs to the GATA family of transcription factors. The protein contains two GATA-type zinc fingers and is an important regulator of T-cell development and plays an important role in endothelial cell biology. Defects in this gene are the cause of hypoparathyroidism with sensorineural deafness and renal dysplasia.

Source: NCBI Gene 2625 — RefSeq curated summary.

At a glance

  • Gene–disease (curated): hypoparathyroidism-deafness-renal disease syndrome (Definitive, ClinGen)
  • GWAS associations: 111
  • Clinical variants (ClinVar): 532 total — 79 pathogenic, 37 likely-pathogenic
  • Phenotypes (HPO): 41
  • Cancer driver (intOGen): activating (oncogene-like) across 2 cancer types
  • Dosage sensitivity (ClinGen): haploinsufficiency sufficient evidence, triplosensitivity no evidence
  • Transcription factor: yes — 214 downstream targets (CollecTRI)
  • MANE Select transcript: NM_001002295

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:4172
Approved symbolGATA3
NameGATA binding protein 3
Location10p14
Locus typegene with protein product
StatusApproved
AliasesHDR
Ensembl geneENSG00000107485
Ensembl biotypeprotein_coding
OMIM131320
Entrez2625

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 8 protein_coding

ENST00000346208, ENST00000379328, ENST00000461472, ENST00000481743, ENST00000643001, ENST00000872595, ENST00000955812, ENST00000955813

RefSeq mRNA: 2 — MANE Select: NM_001002295 NM_001002295, NM_002051

CCDS: CCDS31143, CCDS7083

Canonical transcript exons

ENST00000379328 — 6 exons

ExonStartEnd
ENSE0000083729380552878055896
ENSE0000083729480583058058841
ENSE0000083729580737398075198
ENSE0000100093880546888054891
ENSE0000175114080639938064138
ENSE0000362623180694738069598

Expression profiles

Bgee: expression breadth ubiquitous, 220 present calls, max score 99.63.

FANTOM5 (CAGE): breadth broad, TPM avg 67.9772 / max 1664.5110, expressed in 822 samples.

FANTOM5 promoters (22 alternative TSS)

Promoter IDTPM avgSamples expressed
10378744.7207599
1037888.5358569
1037864.1669516
1037923.0694238
1037811.8485181
1037911.6141175
1038001.3228165
1037800.5965155
1037900.4536122
1037890.2963128

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
upper leg skinUBERON:000426299.63gold quality
skin of hipUBERON:000155499.47gold quality
endometrium epitheliumUBERON:000481199.47gold quality
nippleUBERON:000203099.46gold quality
upper arm skinUBERON:000426399.22gold quality
mammary ductUBERON:000176598.98gold quality
epithelium of mammary glandUBERON:000324498.84gold quality
renal medullaUBERON:000036298.55gold quality
seminal vesicleUBERON:000099897.92gold quality
skin of abdomenUBERON:000141697.45gold quality
mammalian vulvaUBERON:000099797.44gold quality
zone of skinUBERON:000001497.28gold quality
corpus epididymisUBERON:000435997.03gold quality
skin of legUBERON:000151196.80gold quality
placentaUBERON:000198796.78gold quality
hair follicleUBERON:000207395.95gold quality
mucosa of urinary bladderUBERON:000125995.63gold quality
cauda epididymisUBERON:000436095.42gold quality
deciduaUBERON:000245095.33gold quality
mammary glandUBERON:000191194.22gold quality
thoracic mammary glandUBERON:000520094.15gold quality
buccal mucosa cellCL:000233693.55gold quality
cervix squamous epitheliumUBERON:000692293.37gold quality
parotid glandUBERON:000183193.29gold quality
thymusUBERON:000237093.14gold quality
urethraUBERON:000005792.45gold quality
penisUBERON:000098992.06gold quality
amniotic fluidUBERON:000017389.04gold quality
adult mammalian kidneyUBERON:000008288.95gold quality
kidneyUBERON:000211388.03gold quality

Single-cell (SCXA)

Detected in 14 experiment(s), a significant marker in 12.

ExperimentMarker?Max mean expression
E-GEOD-70580yes1617.57
E-HCAD-10yes938.77
E-MTAB-6701yes936.98
E-MTAB-10018yes923.50
E-CURD-84yes541.65
E-GEOD-114530yes486.34
E-MTAB-8142yes120.47
E-CURD-119yes30.66
E-ANND-3yes19.08
E-CURD-122yes9.44
E-MTAB-9388yes7.23
E-MTAB-6678yes6.42
E-CURD-112no926.29
E-CURD-89no587.72

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

214 targets.

TargetRegulation
ABCB1
ABCC2Unknown
ABCC3
ACTR6
ADAM2
ALDH1A2Unknown
ANXA2P3
APBA1Unknown
ARNT2Unknown
ATOX1
ATP2B1Unknown
ATXN10Unknown
AURKAUnknown
AURKAIP1
BCAS3Unknown
BCL2L1Activation
BHLHE41Activation
BIRC5
BLCAPUnknown
BMP2
BPIFB1Unknown
CALR
CCL27
CCND1Unknown
CCR5Repression
CD28
CD38
CD3E
CD4Activation
CD40LGActivation

JASPAR motifs

MotifNameFamily
MA0037.1GATA3C4-GATA-related
MA0037.2GATA3C4-GATA-related
MA0037.3GATA3C4-GATA-related

JASPAR matrix evidence (PMIDs): PMID:8321207

Upstream regulators (CollecTRI, top): AHR, ARID5B, BCL6, E2F1, EBF1, EZH2, FOS, FOXP3, GATA3, GFI1B, HNF1A, HOXB1, IKZF1, JUNB, KMT2A, MEN1, MYB, NFATC2, NFKB1, NOTCH1, PAX8, RBPJ, RELA, RUNX1, SATB1, SMAD1, SMAD5, SP1, SPI1, STAT1, STAT6, TBX21, TBXT, TCF7L2, TP63, ZC3H8, ZEB1, ZNF503

miRNA regulators (miRDB)

128 targeting GATA3, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-4795-3P100.0074.624024
HSA-MIR-5692B100.0071.322622
HSA-MIR-5692C100.0071.322622
HSA-LET-7A-3P100.0074.033932
HSA-LET-7B-3P100.0074.083913
HSA-LET-7F-1-3P100.0074.023928
HSA-MIR-98-3P100.0074.083907
HSA-MIR-513A-5P100.0069.772465
HSA-MIR-1252-5P100.0069.802774
HSA-MIR-126-5P100.0072.713180
HSA-MIR-3613-3P100.0076.367965
HSA-MIR-513B-5P99.9969.962150
HSA-MIR-34A-5P99.9971.211784
HSA-MIR-449A99.9971.051776
HSA-MIR-548AW99.9972.573559
HSA-MIR-196A-1-3P99.9972.152772
HSA-MIR-27A-3P99.9872.132955
HSA-MIR-27B-3P99.9872.132955
HSA-MIR-998599.9872.112939
HSA-MIR-499A-5P99.9870.791323
HSA-LET-7F-2-3P99.9870.982588
HSA-MIR-1185-1-3P99.9871.042593
HSA-MIR-1185-2-3P99.9871.042593
HSA-MIR-4789-5P99.9870.762721
HSA-MIR-433-3P99.9869.371203
HSA-MIR-548AN99.9770.912817
HSA-MIR-34C-5P99.9770.451577
HSA-MIR-449B-5P99.9770.261580
HSA-MIR-3688-3P99.9772.022834
HSA-MIR-495-3P99.9672.814197

Functional genomics

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

Literature-anchored findings (GeneRIF, showing 40)

  • Strong GATA-3 binding to an oligonucleotide containing two GATA-3 motifs has been mapped at a DNase hypersensitivity site in cluster IV of the CD8 gene complex. (PMID:11937547)
  • Identification of an alternative GATA-3 promoter directing tissue-specific gene expression (PMID:11970965)
  • A marked reduction in both GATA-3 mRNA and protein expression in HPV-immortalized cell lines was confirmed in cervical carcinoma cell lines. (PMID:12057898)
  • GATA-3 transcriptional imprinting in Th2 lymphocytes: a mathematical model. GATA-3 autoactivation creates a bistable system that can memorize a transient inductive signal. (PMID:12087127)
  • VZV virus and mite antigens induce expression of this transcription factor in cord blood mononuclear cells, differenetially affecting Th1 and Th2 cells (PMID:12960249)
  • GATA-3 is an important transcription factor in regulating human Th2 cell differentiation in vivo. (PMID:14757746)
  • GATA3 mutations may have a role in the hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome (PMID:14985365)
  • GATA3 plays important roles in the maintenance of the Th2 phenotype and continuous chromatin remodeling of the specific Th2 cytokine gene locus through cell division. (PMID:15087456)
  • GATA-3 suppresses IFN-gamma promoter activity independently of binding to cis-regulatory elements (PMID:15251440)
  • Erythropoietin (Epo) gene expression is under the control of hypoxia-inducible factor 1 (HIF-1), and is negatively regulated by GATA3. (PMID:15328158)
  • GATA3 is involved in growth control and the maintenance of the differentiated state in epithelial cells and may contribute to tumorigenesis in breast cancer. (PMID:15361840)
  • GATA-3 contributed to the production of IL-4, IL-5 in patients with allergic rhinitis. (PMID:15563083)
  • Expressed in Hodgkin disesase Reed Sternberg cells. (PMID:15632006)
  • GATA-3 binds and transactivates the NKG2A promoter; coexpression of human GATA-3 with an NKG2A promoter construct in K562 cells leads to enhanced promoter activity. (PMID:15699146)
  • interleukin-5 transcription repression by the glucocorticoid receptor targets GATA3 signaling and involves histone deacetylase recruitment (PMID:15826950)
  • GATA3 is crucially involved in IL-5 gene transcription in human peripheral CD4-positive t cells. (PMID:15947486)
  • strong specific upregulation of Gata-3 impaired nuclear translocation and its cooperative action with the TGF-beta pathway, suggesting that Gata-3 plays a central role in human pancreatic cancer (PMID:16087702)
  • DL1-induced activation of the Notch1 pathway controls the lineage commitment of early thymic precursors by altering the levels between Spi-B and GATA-3. (PMID:16317090)
  • Low expression of GATA3 is associated with invasive breast carcinomas (PMID:16357129)
  • Segmental allergen challenge in asthmatics leads to increased GATA-3, c-maf and T-bet expression in BAL cells but not in bronchial biopsies (PMID:16498264)
  • Direct sequencing after PCR amplification of genomic DNA revealed a novel insertional mutation (405insC) in the GATA3 gene of two patients with HDR syndrome (Hypoparathyroidism, sensorineural Deafness and Renal anomaly syndrome). (PMID:16509533)
  • Three novel mutations in the GATA3 gene responsible for familial hypoparathyroidism and deafness. (PMID:16912130)
  • Imbalance of transcription factors T-bet and GATA-3 may be one of the key factors in immune dysregulation of recurrent aphthous ulcerations. (PMID:17074191)
  • the GATA-3/T-bet transcription factor complex regulates the cell-lineage-specific expression of the lymphocyte homing receptors (PMID:17075044)
  • GATA3 is probably a mediator for the transcriptional upregulation of MUC1 expression in some breast cancers. (PMID:17078870)
  • Overexpression of GATA3 rescues T-helper type 2 (Th2) cytokine expression in protein kinase C theta-deficient transgenic Th2 cells. (PMID:17111354)
  • A novel heterozygous deletion frameshift mutation of GATA3 in a Japanese kindred with the hypoparathyroidism, deafness and renal dysplasia syndrome. (PMID:17114920)
  • There is an association between expression of Th1/Th2 transcription factors and cytokines (T-bet, GATA-3, IFN-gamma, IL-4,IL-18) in systemic lupus erythematosus. (PMID:17117487)
  • No mutations were identified in patients with isolated hypoparathyroidism, thereby indicating that GATA3 abnormalities are more likely to result in two or more of the phenotypic features of the HDR syndrome. (PMID:17210674)
  • The human GATA-3 gene is not regulated in response to polarizing signals that are sufficient to direct Th2-specific expression in mouse cells. (PMID:17234745)
  • E2A proteins prevent lymphoma cell expansion, at least in part through regulation of Gfi1b and modulation of Gata3 expression. (PMID:17272506)
  • GATA-3 nuclear translocation is dependent on its phosphorylation on serine residues by p38 MAPK (PMID:17277157)
  • GATA3 establishes a positive feedback loop that increases transgenic T-cell receptor surface expression in developing CD4 lineage cells. (PMID:17357106)
  • Gata-3 has a role in specifying and maintaining mammary cell fate (PMID:17381824)
  • WNT8B expression in hepatocyte progenitors derived from human ES cells is due to POU5F1 (OCT3/OCT4) and GATA3, and WNT8B expression in diffuse-type gastric cancer is due to POU5F1 and GATA6 (PMID:17390031)
  • In Dermatophagoides farinae-stimulated PBMCs from patients with asthma, expression of GATA-3 and T-bet and FOPX3 expression is decreased. (PMID:17445472)
  • In patients with acute asthma, rosiglitazone could regulate the balance of IFN-gamma and IL-4 by affecting expression of T-bet mRNA and GATA-3. (PMID:17445473)
  • GATA-3 is a critical component of the master cell-type-specific transcriptional network including ER alpha and FoxA1 that dictates the phenotype of hormone-dependent breast cancer (PMID:17616709)
  • Activation of GATA-3 might be one of the mechanisms for induction of IL-5 expression in chronic rhinosinusitis. (PMID:17628972)
  • GATA-3 expression in bone marrow stromal cells from chronic aplastic anemia was significantly higher than controls. Expression levels of GATA genes may influence hematopoiesis in BM microenvironment & relate to the pathogenesis/development of AA. (PMID:17654061)

Cross-species orthologs

7 orthologs

OrganismSymbolGene ID
danio_reriogata3ENSDARG00000016526
mus_musculusGata3ENSMUSG00000015619
rattus_norvegicusGata3ENSRNOG00000019336
drosophila_melanogastersrpFBGN0003507
drosophila_melanogasterGATAdFBGN0032223
caenorhabditis_elegansWBGENE00001250
caenorhabditis_elegansWBGENE00001252

Paralogs (7): GATA1 (ENSG00000102145), TRPS1 (ENSG00000104447), GATA5 (ENSG00000130700), GATA4 (ENSG00000136574), GATA6 (ENSG00000141448), GATA2 (ENSG00000179348), ZGLP1 (ENSG00000220201)

Protein

Protein identifiers

Trans-acting T-cell-specific transcription factor GATA-3P23771 (reviewed: P23771)

Alternative names: GATA-binding factor 3

All UniProt accessions (4): P23771, A0A2R8Y2A9, A0A2R8Y4T2, A0A994J6H6

UniProt curated annotations — full annotation on UniProt →

Function. Transcriptional activator which binds to the enhancer of the T-cell receptor alpha and delta genes. Binds to the consensus sequence 5’-AGATAG-3’. Required for the T-helper 2 (Th2) differentiation process following immune and inflammatory responses. Positively regulates ASB2 expression. Coordinates macrophage transcriptional activation and UCP2-dependent metabolic reprogramming in response to IL33. Upon tissue injury, acts downstream of IL33 signaling to drive differentiation of inflammation-resolving alternatively activated macrophages.

Subunit / interactions. Interacts with TBX21 (‘Tyr-530’ phosphorylated form).

Subcellular location. Nucleus.

Tissue specificity. T-cells and endothelial cells.

Disease relevance. Hypoparathyroidism, sensorineural deafness, and renal disease (HDR) [MIM:146255] A disease characterized by steroid-resistant nephrosis with progressive renal failure, hypoparathyroidism, sensorineural deafness, and renal dysplasia. The disease is caused by variants affecting the gene represented in this entry.

Domain organisation. Binds DNA via the 2 GATA-type zinc fingers. Each zinc finger may bind either adjacent sites in a palindromic motif, or a different DNA molecule allowing looping and long-range gene regulation. The YxKxHxxxRP motif is critical for DNA-binding and function.

Isoforms (2)

UniProt IDNamesCanonical?
P23771-11yes
P23771-22

RefSeq proteins (2): NP_001002295, NP_002042 (=MANE)

Domains & families (InterPro)

IDNameType
IPR000679Znf_GATADomain
IPR013088Znf_NHR/GATAHomologous_superfamily
IPR016374TF_GATA-2/3Family
IPR039355Transcription_factor_GATAFamily

Pfam: PF00320

UniProt features (35 total): sequence conflict 8, region of interest 7, sequence variant 4, compositionally biased region 3, helix 3, zinc finger region 2, modified residue 2, turn 2, chain 1, short sequence motif 1, splice variant 1, strand 1

Structure

Experimental structures (PDB)

3 structures.

PDBMethodResolution (Å)
4HC9X-RAY DIFFRACTION1.6
4HC7X-RAY DIFFRACTION2.65
4HCAX-RAY DIFFRACTION2.8

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-P23771-F158.510.19

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 (2): 115, 162

Function

Pathways and Gene Ontology

Reactome pathways

8 pathways

IDPathway
R-HSA-5689880Ub-specific processing proteases
R-HSA-6785807Interleukin-4 and Interleukin-13 signaling
R-HSA-8939236RUNX1 regulates transcription of genes involved in differentiation of HSCs
R-HSA-9018519Estrogen-dependent gene expression
R-HSA-9830364Formation of the nephric duct
R-HSA-983231Factors involved in megakaryocyte development and platelet production
R-HSA-9938206Developmental Lineage of Mammary Stem Cells
R-HSA-9976102Differentiation of naive CD4+ T cells to T helper 2 cells (Th2 cells)

MSigDB gene sets: 888 (showing top): GOBP_MYELOID_CELL_DIFFERENTIATION, GOBP_CARDIAC_CHAMBER_DEVELOPMENT, GOBP_NEGATIVE_REGULATION_OF_EPITHELIAL_CELL_PROLIFERATION, GOBP_MORPHOGENESIS_OF_AN_EPITHELIUM, GOBP_REGULATION_OF_CELL_ACTIVATION, VERHAAK_AML_WITH_NPM1_MUTATED_DN, GOBP_PHENOL_CONTAINING_COMPOUND_METABOLIC_PROCESS, GOBP_HEMATOPOIETIC_PROGENITOR_CELL_DIFFERENTIATION, E2F_Q4_01, GOBP_RESPONSE_TO_ETHANOL, GOBP_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS, GOBP_EMBRYONIC_HEMOPOIESIS, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_RESPONSE_TO_IONIZING_RADIATION, GOBP_EPITHELIUM_DEVELOPMENT

GO Biological Process (122): negative regulation of transcription by RNA polymerase II (GO:0000122), in utero embryonic development (GO:0001701), cell fate determination (GO:0001709), neuron migration (GO:0001764), type IV hypersensitivity (GO:0001806), regulation of cytokine production (GO:0001817), kidney development (GO:0001822), mesonephros development (GO:0001823), lens development in camera-type eye (GO:0002088), immune system development (GO:0002520), pro-T cell differentiation (GO:0002572), aortic valve morphogenesis (GO:0003180), cardiac right ventricle morphogenesis (GO:0003215), ventricular septum development (GO:0003281), chromatin remodeling (GO:0006338), transcription by RNA polymerase II (GO:0006366), defense response (GO:0006952), inflammatory response (GO:0006954), humoral immune response (GO:0006959), signal transduction (GO:0007165), axon guidance (GO:0007411), cell population proliferation (GO:0008283), negative regulation of cell population proliferation (GO:0008285), male gonad development (GO:0008584), response to xenobiotic stimulus (GO:0009410), response to virus (GO:0009615), anatomical structure morphogenesis (GO:0009653), post-embryonic development (GO:0009791), positive regulation of signal transduction (GO:0009967), response to gamma radiation (GO:0010332), positive regulation of endothelial cell migration (GO:0010595), negative regulation of epithelial to mesenchymal transition (GO:0010719), regulation of neuron projection development (GO:0010975), T cell differentiation (GO:0030217), erythrocyte differentiation (GO:0030218), macrophage differentiation (GO:0030225), regulation of epithelial cell differentiation (GO:0030856), TOR signaling (GO:0031929), negative regulation of type II interferon production (GO:0032689), negative regulation of interleukin-2 production (GO:0032703)

GO Molecular Function (21): transcription cis-regulatory region binding (GO:0000976), RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), cis-regulatory region sequence-specific DNA binding (GO:0000987), transcription coactivator binding (GO:0001223), DNA-binding transcription repressor activity, RNA polymerase II-specific (GO:0001227), DNA-binding transcription activator activity, RNA polymerase II-specific (GO:0001228), DNA binding (GO:0003677), DNA-binding transcription factor activity (GO:0003700), interleukin-2 receptor binding (GO:0005134), zinc ion binding (GO:0008270), identical protein binding (GO:0042802), RNA polymerase II-specific DNA-binding transcription factor binding (GO:0061629), E-box binding (GO:0070888), HMG box domain binding (GO:0071837), histone methyltransferase binding (GO:1990226), sequence-specific double-stranded DNA binding (GO:1990837), RNA polymerase II transcription regulatory region sequence-specific DNA binding (GO:0000977), protein binding (GO:0005515), sequence-specific DNA binding (GO:0043565), metal ion binding (GO:0046872)

GO Cellular Component (3): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654)

Reactome top-level categories

Rollup of top-8 pathways:

CategoryPathways
Deubiquitination1
Signaling by Interleukins1
Transcriptional regulation by RUNX11
ESR-mediated signaling1
Kidney development1
Hemostasis1
Developmental Lineages of the Mammary Gland1
Differentiation of T cells1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
RNA polymerase II transcription regulatory region sequence-specific DNA binding4
transcription cis-regulatory region binding3
regulation of transcription by RNA polymerase II2
DNA-binding transcription factor activity, RNA polymerase II-specific2
cellular anatomical structure2
transcription by RNA polymerase II1
negative regulation of DNA-templated transcription1
chordate embryonic development1
cell fate commitment1
cellular developmental process1
cell migration1
generation of neurons1
T cell mediated immunity1
hypersensitivity1
cytokine production1
regulation of gene expression1
regulation of multicellular organismal process1
animal organ development1
renal system development1
kidney development1
camera-type eye development1
anatomical structure development1
immune system process1
system development1
lymphoid progenitor cell differentiation1
T cell differentiation1
aortic valve development1
heart valve morphogenesis1
cardiac ventricle morphogenesis1
cardiac ventricle development1
cardiac septum development1
chromatin organization1
DNA-templated transcription1
response to stress1
defense response1
immune response1
cell communication1
cellular process1
signaling1
regulation of cellular process1

Protein interactions and networks

STRING

5626 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
GATA3RUNX1Q01196977
GATA3TBX21Q9UL17957
GATA3FOXA1P55317950
GATA3TAL1P17542938
GATA3ESR1P03372911
GATA3IL4P05112909
GATA3ETS1P14921902
GATA3CD4P01730897
GATA3STAT6P42226887
GATA3IL13P35225882
GATA3IFNGP01579880
GATA3IL5P05113876
GATA3BMI1P35226851
GATA3R4GMX3R4GMX3851
GATA3FOXP3Q9BZS1850

IntAct

138 interactions, top by confidence:

ABTypeScore
RARANCOR1psi-mi:“MI:0914”(association)0.800
ESR1PGRpsi-mi:“MI:0915”(physical association)0.770
MTA3MBD3psi-mi:“MI:0914”(association)0.690
ESR1GATA3psi-mi:“MI:0914”(association)0.620
MTA3GATA3psi-mi:“MI:0914”(association)0.610
EHMT2GATA3psi-mi:“MI:0914”(association)0.610
GATA3EHMT2psi-mi:“MI:0914”(association)0.610
GATA3EHMT2psi-mi:“MI:0407”(direct interaction)0.610
GATA3MTA3psi-mi:“MI:0407”(direct interaction)0.610
GATA3GCM1psi-mi:“MI:0915”(physical association)0.610
GCM1GATA3psi-mi:“MI:0915”(physical association)0.610
GCM1GATA3psi-mi:“MI:0403”(colocalization)0.610
TBX21GATA3psi-mi:“MI:0914”(association)0.580
TBX21GATA3psi-mi:“MI:0915”(physical association)0.580
TBX21SP1psi-mi:“MI:0914”(association)0.580

BioGRID (226): PSMA3 (Two-hybrid), GATA3 (Biochemical Activity), FBXW7 (Reconstituted Complex), FBXW7 (Affinity Capture-Western), GATA3 (Biochemical Activity), GATA3 (Two-hybrid), WEE1 (Negative Genetic), GATA3 (Affinity Capture-MS), GATA3 (Co-localization), GATA3 (Affinity Capture-Western), TCF7L2 (Affinity Capture-Western), GATA3 (Affinity Capture-Western), GATA3 (Reconstituted Complex), GATA3 (Affinity Capture-MS), GATA3 (Two-hybrid)

ESM2 similar proteins: A0JC51, A5ABV9, O08656, O09100, O18896, O57311, O60481, O73689, O95409, P09022, P10070, P19544, P22561, P23769, P23770, P23771, P23772, P23824, P25932, P46684, P49639, P49952, P54655, P55878, P70062, P70063, Q08DV0, Q0VGT2, Q15915, Q62520, Q62521, Q6DJQ6, Q6VVD7, Q6XP49, Q7TQ40, Q800Q5, Q8JJC0, Q91689, Q924A0, Q924Y4

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

25 interactions.

AEffectBMechanism
ASH2Lup-regulatesGATA3binding
GATA3down-regulatesPPARG“transcriptional regulation”
GATA3down-regulatesCEBPAbinding
GATA3“up-regulates quantity by expression”ERG“transcriptional regulation”
GATA3“up-regulates quantity by expression”CD8A“transcriptional regulation”
GATA3“down-regulates quantity by repression”FOXC2“transcriptional regulation”
TBX21down-regulatesGATA3
GATA3down-regulatesTBX21
GATA3up-regulatesGATA3
STAT6up-regulatesGATA3
GATA3“up-regulates quantity by expression”IL4“transcriptional regulation”
ARID5B“up-regulates quantity by expression”GATA3“transcriptional regulation”
ZNF503“down-regulates quantity by repression”GATA3“transcriptional regulation”
GATA3“up-regulates quantity by expression”GLS2“transcriptional regulation”
PKA“up-regulates activity”GATA3phosphorylation
CDK2“down-regulates quantity by destabilization”GATA3phosphorylation
FBXW7“down-regulates quantity by destabilization”GATA3ubiquitination
GATA3down-regulatesCEBPBbinding
GATA3“down-regulates quantity by repression”PPARG“transcriptional regulation”
GATA3“up-regulates activity”T-lymphocyte_diff
SMAD1“up-regulates quantity”GATA3“transcriptional regulation”
SMAD5“up-regulates quantity”GATA3“transcriptional regulation”
GATA3down-regulatesAdipogenesis
SMO“up-regulates activity”GATA3

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 58 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:

PathwayPartnersFoldFDR
Differentiation of naive CD4+ T cells to T helper 2 cells (Th2 cells)1028.7×6e-10
NOTCH1 Intracellular Domain Regulates Transcription628.0×1e-05
Nuclear Receptor transcription pathway623.6×2e-05
RNA Polymerase I Transcription Initiation521.9×2e-04
Regulation of PTEN gene transcription621.0×4e-05
Constitutive Signaling by NOTCH1 PEST Domain Mutants519.3×3e-04
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants519.3×3e-04
Adipogenesis515.3×5e-04

GO biological processes:

GO termPartnersFoldFDR
neuron fate specification561.6×2e-06
negative regulation of miRNA transcription554.8×3e-06
positive regulation of miRNA transcription735.7×2e-07
epigenetic regulation of gene expression533.6×3e-05
cerebral cortex development518.0×4e-04
transcription by RNA polymerase II911.1×1e-05
chromatin remodeling810.2×7e-05
neuron differentiation58.8×6e-03

Disease & clinical

Cancer significance

From intOGen — cancer-driver classification: activating (oncogene-like) across 2 cancer types — ALL, BRCA.

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic79
Likely pathogenic37
Uncertain significance199
Likely benign113
Benign47

Top pathogenic / likely-pathogenic (30)

Variant IDHGVSClassification
1065344NM_001002295.2(GATA3):c.389del (p.Leu130fs)Pathogenic
1174139NM_001002295.2(GATA3):c.864C>G (p.Cys288Trp)Pathogenic
1174140NM_001002295.2(GATA3):c.951del (p.Cys318fs)Pathogenic
1174524NM_001002295.2(GATA3):c.778+1G>APathogenic
1185058NM_001002295.2(GATA3):c.675C>A (p.Tyr225Ter)Pathogenic
1185679NM_001002295.2(GATA3):c.352_353del (p.Ser118fs)Pathogenic
1322981NM_001002295.2(GATA3):c.779-1G>CPathogenic
1365325NM_001002295.2(GATA3):c.774dup (p.Thr259fs)Pathogenic
1366705NM_001002295.2(GATA3):c.836del (p.Gly279fs)Pathogenic
1406588NC_000010.10:g.(?8097619)(8739580_?)delPathogenic
1452435NM_001002295.2(GATA3):c.404del (p.Pro135fs)Pathogenic
1455943NM_001002295.2(GATA3):c.1050+2T>CPathogenic
1456792NM_001002295.2(GATA3):c.451_454del (p.Phe151fs)Pathogenic
1527578GRCh37/hg19 10p14(chr10:7943586-8120292)Pathogenic
1527579GRCh37/hg19 10p14(chr10:8046788-9979612)Pathogenic
16619GATA3, 900-KB DELPathogenic
16620GATA3, 250-KB DELPathogenic
16621NM_001002295.2(GATA3):c.465_513del (p.Thr156fs)Pathogenic
16622NM_001002295.2(GATA3):c.947_958del (p.Thr316_Ala319del)Pathogenic
16624NM_001002295.2(GATA3):c.823T>A (p.Trp275Arg)Pathogenic
16625NM_001002295.2(GATA3):c.901delinsAACCCT (p.Leu301fs)Pathogenic
16627NM_001002295.2(GATA3):c.431del (p.Gly144fs)Pathogenic
16628NM_001002295.2(GATA3):c.478del (p.Asp160fs)Pathogenic
16629NM_001002295.2(GATA3):c.924+2delinsGCTTACTTCCCPathogenic
16630NM_001002295.2(GATA3):c.1059A>T (p.Arg353Ser)Pathogenic
1678812NM_001002295.2(GATA3):c.916C>T (p.Arg306Ter)Pathogenic
1685840NM_001002295.2(GATA3):c.381_388del (p.Gly128fs)Pathogenic
1685841NM_001002295.2(GATA3):c.925-3_925-2delPathogenic
1687685NM_001002295.2(GATA3):c.815C>T (p.Thr272Ile)Pathogenic
2011955NM_001002295.2(GATA3):c.638C>A (p.Ser213Ter)Pathogenic

SpliceAI

910 predictions. Top by Δscore:

VariantEffectΔscore
10:8055895:CGGTG:Cdonor_loss1.0000
10:8055897:G:Cdonor_loss1.0000
10:8055898:T:TCdonor_loss1.0000
10:8055899:GAGT:Gdonor_loss1.0000
10:8063992:GAA:Gacceptor_gain1.0000
10:8064134:GGCTG:Gdonor_gain1.0000
10:8064135:GCTG:Gdonor_gain1.0000
10:8064135:GCTGG:Gdonor_gain1.0000
10:8064137:TGGTA:Tdonor_loss1.0000
10:8064138:GGTAA:Gdonor_loss1.0000
10:8064139:GTAA:Gdonor_loss1.0000
10:8064140:TAA:Tdonor_loss1.0000
10:8069471:A:AGacceptor_gain1.0000
10:8069472:G:GGacceptor_gain1.0000
10:8054888:CCAG:Cdonor_loss0.9900
10:8054889:CAG:Cdonor_loss0.9900
10:8054890:AG:Adonor_loss0.9900
10:8054892:G:GGdonor_loss0.9900
10:8055135:G:Tdonor_gain0.9900
10:8055281:TTGCA:Tacceptor_loss0.9900
10:8055282:TGCAG:Tacceptor_loss0.9900
10:8055283:GCAG:Gacceptor_loss0.9900
10:8055284:CAGGT:Cacceptor_loss0.9900
10:8055285:A:AGacceptor_gain0.9900
10:8055286:G:GGacceptor_gain0.9900
10:8055407:ACCC:Adonor_gain0.9900
10:8055870:TGCAG:Tdonor_gain0.9900
10:8055897:G:GGdonor_gain0.9900
10:8058292:C:CAacceptor_gain0.9900
10:8058302:CAGGG:Cacceptor_gain0.9900

AlphaMissense

2899 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
10:8063999:G:TR261M1.000
10:8064001:G:AE262K1.000
10:8064004:T:AC263S1.000
10:8064004:T:CC263R1.000
10:8064005:G:AC263Y1.000
10:8064005:G:CC263S1.000
10:8064005:G:TC263F1.000
10:8064006:T:GC263W1.000
10:8064010:A:GN265D1.000
10:8064011:A:TN265I1.000
10:8064012:C:AN265K1.000
10:8064012:C:GN265K1.000
10:8064013:T:AC266S1.000
10:8064013:T:CC266R1.000
10:8064013:T:GC266G1.000
10:8064014:G:AC266Y1.000
10:8064014:G:CC266S1.000
10:8064014:G:TC266F1.000
10:8064015:T:GC266W1.000
10:8064016:G:AG267R1.000
10:8064016:G:CG267R1.000
10:8064016:G:TG267W1.000
10:8064017:G:AG267E1.000
10:8064017:G:TG267V1.000
10:8064019:G:CA268P1.000
10:8064025:T:CS270P1.000
10:8064029:C:AT271N1.000
10:8064029:C:TT271I1.000
10:8064031:C:TP272S1.000
10:8064032:C:AP272Q1.000

dbSNP variants (sampled 300 via entrez): RS1000122908 (10:8048425 G>A), RS1000135052 (10:8063370 C>T), RS1000306816 (10:8043584 C>G), RS1000387438 (10:8059251 G>C), RS1000398557 (10:8052900 G>A,C,T), RS1000490579 (10:8049867 C>A), RS1000514237 (10:8046119 A>T), RS1000654323 (10:8069977 G>A,C), RS1000669497 (10:8050364 G>A,T), RS1000725339 (10:8055128 C>G), RS1000786763 (10:8054168 T>C), RS1000931566 (10:8068708 G>A,T), RS1000943956 (10:8053913 C>A,G), RS1000964908 (10:8060540 T>TC), RS1001054865 (10:8044995 T>A,C)

Disease associations

OMIM: gene MIM:131320 | disease phenotypes: MIM:146255, MIM:114480, MIM:610805

GenCC curated gene-disease

DiseaseClassificationInheritance
hypoparathyroidism-deafness-renal disease syndromeDefinitiveAutosomal dominant

ClinGen Gene-Disease Validity (1)

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

DiseaseClassificationInheritance
hypoparathyroidism-deafness-renal disease syndromeDefinitiveAD

Mondo (8): hypoparathyroidism-deafness-renal disease syndrome (MONDO:0007797), neurodevelopmental disorder (MONDO:0700092), hearing loss disorder (MONDO:0005365), B-cell childhood acute lymphoblastic leukemia (MONDO:0000872), ovarian neoplasm (MONDO:0021068), hereditary breast carcinoma (MONDO:0016419), end stage renal failure (MONDO:0004375), congenital anomaly of kidney and urinary tract (MONDO:0019719)

Orphanet (3): Hypoparathyroidism-sensorineural deafness-renal disease syndrome (Orphanet:2237), Hereditary breast cancer (Orphanet:227535), Renal or urinary tract malformation (Orphanet:93545)

HPO phenotypes

41 total (30 of 41 shown, HPO-id order):

HPOTerm
HP:0000006Autosomal dominant inheritance
HP:0000076Vesicoureteral reflux
HP:0000083Renal insufficiency
HP:0000093Proteinuria
HP:0000100Nephrotic syndrome
HP:0000110Renal dysplasia
HP:0000113Polycystic kidney dysplasia
HP:0000121Nephrocalcinosis
HP:0000122Unilateral renal agenesis
HP:0000126Hydronephrosis
HP:0000148Vaginal atresia
HP:0000151Aplasia of the uterus
HP:0000175Cleft palate
HP:0000407Sensorineural hearing impairment
HP:0000408Progressive sensorineural hearing impairment
HP:0000508Ptosis
HP:0000510Rod-cone dystrophy
HP:0000538Pseudopapilledema
HP:0000666Horizontal nystagmus
HP:0000786Primary amenorrhea
HP:0000790Hematuria
HP:0000819Diabetes mellitus
HP:0000829Hypoparathyroidism
HP:0000860Parathyroid hypoplasia
HP:0001153Septate vagina
HP:0001281Tetany
HP:0001627Abnormal heart morphology
HP:0002049Proximal renal tubular acidosis
HP:0002135Basal ganglia calcification
HP:0002199Hypocalcemic seizures

GWAS associations

111 associations (top):

StudyTraitp-value
GCST000851_1Hodgkin’s lymphoma7.000000e-08
GCST002083_8Self-reported allergy2.000000e-08
GCST002158_2Acute lymphoblastic leukemia (B-cell precursor)9.000000e-12
GCST002201_4Calcium levels5.000000e-09
GCST002318_110Rheumatoid arthritis3.000000e-09
GCST002318_111Rheumatoid arthritis2.000000e-08
GCST002411_1Colorectal cancer7.000000e-11
GCST002415_8Colorectal cancer (diet interaction)9.000000e-09
GCST002480_6Hodgkin’s lymphoma3.000000e-06
GCST002713_1Acute lymphoblastic leukemia (adolescents and young adults)3.000000e-10
GCST002842_13Basal cell carcinoma2.000000e-16
GCST002880_3Recalcitrant atopic dermatitis1.000000e-07
GCST002919_9Colorectal cancer4.000000e-13
GCST002987_8Stroke1.000000e-07
GCST003124_22Mild influenza (H1N1) infection3.000000e-08
GCST003155_2Systemic lupus erythematosus9.000000e-08
GCST003474_2Scalp hair shape4.000000e-08
GCST003726_8Basal cell carcinoma3.000000e-23
GCST003814_1Selective IgA deficiency5.000000e-08
GCST003987_13Asthma8.000000e-12
GCST003990_12Allergy6.000000e-11
GCST004227_6Obstetric antiphospholipid syndrome8.000000e-07
GCST004412_5Craniofacial microsomia5.000000e-09
GCST004606_192Eosinophil count7.000000e-09
GCST004638_1Benign prostatic hyperplasia and/or lower urinary tract symptoms9.000000e-07
GCST004839_1Colorectal cancer9.000000e-08
GCST005038_128Allergic disease (asthma, hay fever or eczema)8.000000e-09
GCST005038_129Allergic disease (asthma, hay fever or eczema)3.000000e-11
GCST005038_130Allergic disease (asthma, hay fever or eczema)2.000000e-22
GCST005038_24Allergic disease (asthma, hay fever or eczema)2.000000e-12

EFO canonical traits (14, from GWAS)

EFO IDTrait name
EFO:0004838calcium measurement
EFO:0008111diet measurement
EFO:1000651recalcitrant atopic dermatitis
EFO:1001488influenza A (H1N1)
EFO:0004842eosinophil count
EFO:0008008lower urinary tract symptom
EFO:0008579risk-taking behaviour
EFO:0004318smoking behavior
EFO:1002011adult onset asthma
EFO:0004469HOMA-B
EFO:0007991eosinophil percentage of leukocytes
EFO:0004587lymphocyte count
EFO:0007993lymphocyte percentage of leukocytes
EFO:0007990neutrophil percentage of leukocytes

MeSH disease descriptors (5)

DescriptorNameTree numbers
D034381Hearing LossC09.218.458.341; C10.597.751.418.341; C23.888.592.763.393.341
D065886Neurodevelopmental DisordersF03.625
C537907Barakat syndrome (supp.)
C562840Breast Cancer, Familial (supp.)
C566906Cakut (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB clinical annotations

2 annotations.

VariantTypeLevelDrugsPhenotypes
rs3824662Efficacy3asparaginase;cyclophosphamide;cytarabine;daunorubicin;dexamethasone;doxorubicin;leucovorin;mercaptopurine;methotrexate;pegaspargase;prednisone;thioguanine;vincristine
rs3824662Toxicity3glucarpidaseNephrotoxicity

PharmGKB variants

1 variants.

VariantGenesLevelScore#Clin annotsDrugs
rs3824662GATA336.002asparaginase;cyclophosphamide;cytarabine;daunorubicin;dexamethasone;doxorubicin;leucovorin;mercaptopurine;methotrexate;pegaspargase;prednisone;thioguanine;vincristine;glucarpidase

CTD chemical–gene interactions

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

ChemicalActions (top 5)PubMed papers
Valproic Acidaffects cotreatment, increases expression, increases methylation7
sodium arseniteincreases abundance, increases stability, decreases reaction, increases expression, affects methylation (+1 more)6
trichostatin Adecreases expression, increases expression, affects cotreatment4
bisphenol Adecreases expression3
Vorinostataffects cotreatment, increases expression3
Tretinoinincreases expression3
methylmercuric chloridedecreases expression, increases expression2
N’-nitrosonornicotineincreases expression, decreases reaction, increases activity2
4-(N-methyl-N-nitrosamino)-1-(3-pyridyl)-1-butanoneincreases activity, increases expression, decreases reaction2
mercuric bromideincreases expression, affects cotreatment2
entinostatincreases expression, affects cotreatment2
belinostatincreases expression, affects cotreatment2
Panobinostataffects cotreatment, increases expression2
Nickeldecreases expression, increases expression2
Phenylmercuric Acetateaffects cotreatment, increases expression2
Dronabinoldecreases reaction, increases expression, affects reaction2
Aflatoxin B1decreases methylation, increases methylation2
Cadmium Chloridedecreases expression, increases expression2
p-Chloromercuribenzoic Acidaffects cotreatment, increases expression2
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamideaffects splicing1
Esketaminedecreases expression1
Asian ginsengaffects cotreatment, decreases expression1
triphenyl phosphateaffects expression1
2-methyl-4-isothiazolin-3-oneincreases expression1
arseniteincreases methylation1
4-hydroxy-2-nonenaldecreases expression1
di-n-butylphosphoric acidaffects expression1
4-((3-bromophenyl)amino)-6,7-dimethoxyquinazolinedecreases expression, affects cotreatment, increases expression1
corosolic acidincreases expression1
rofecoxibdecreases expression1

Cellosaurus cell lines

751 cell lines: 748 cancer cell line, 3 embryonic stem cell

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

CellosaurusNameCategorySex
CVCL_0031MCF-7Cancer cell lineFemale
CVCL_0088MCF-7LCancer cell lineFemale
CVCL_0404M7TS90Cancer cell lineFemale
CVCL_0412MCF-7/2aCancer cell lineFemale
CVCL_0413MCF7/BUSCancer cell lineFemale
CVCL_0415MCF7mp53Cancer cell lineFemale
CVCL_0U80MCF-7/HER2-18Cancer cell lineFemale
CVCL_1D32MCF7 AREc32Cancer cell lineFemale
CVCL_1D38MCF-7/164R-5Cancer cell lineFemale
CVCL_1D39MCF-7/164R-7Cancer cell lineFemale

Clinical trials (associated diseases)

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

TrialPhaseStatusTitle
NCT04586348PHASE4UNKNOWNPrenatal Iodine Supplementation and Early Childhood Neurodevelopment
NCT04873115PHASE4UNKNOWNDouble-blind, Placebo-controlled, Randomized Clinical Trial Comparing the Efficacy and Safety of Sialanar Plus orAl rehabiLitation Against Placebo Plus Oral Rehabilitation for chIldren and Adolescents With seVere Sialorrhoea and Neurodisabilties,
NCT00205881PHASE4COMPLETEDBilateral Benefit in Adult Users of the HiRes 90K Bionic Ear System
NCT00331539PHASE4UNKNOWNRelationship Between Auto NRT and Behavioural T & C Levels With the Nucleus Freedom Cochlear Implant
NCT00424307PHASE4UNKNOWNBilateral Cochlear Implant Benefit in Young Children
NCT00765635PHASE4COMPLETEDChlorobutanol, Potassium Carbonate, and Irrigation in Cerumen Removal
NCT03321006PHASE4COMPLETEDTreating Hearing Loss to Improve Mood and Cognition in Older Adults
NCT02559102PHASE3COMPLETEDDexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery in Infants
NCT02757079PHASE3COMPLETEDStudy of the Efficacy and Safety of NPC-15 for Sleep Disorders of Children With Neurodevelopmental Disorders
NCT06915480PHASE3RECRUITINGReducing Missed Appointments
NCT07377032PHASE3RECRUITINGTAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders
NCT01499901PHASE3WITHDRAWNComparison of the Bilateral Sequential and Simultaneous Cochlear Implantation in the Deaf Children
NCT02561091PHASE3COMPLETEDAM-111 in the Treatment of Acute Inner Ear Hearing Loss
NCT03331627PHASE3COMPLETEDSafety and Efficacy of STR001-IT and STR001-ER in Patients With SSHL
NCT05532657PHASE3ACTIVE_NOT_RECRUITINGACHIEVE Brain Health Follow-Up Study
NCT02909959PHASE2COMPLETEDSulforaphane for the Treatment of Young Men With Autism Spectrum Disorder
NCT06081348PHASE2RECRUITINGSertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders
NCT06352372PHASE2COMPLETEDSafety and Efficacy of tPBM for Epileptiform Activity in Autism
NCT00013455PHASE2COMPLETEDQuantifying Auditory Perceptual Learning Following Hearing Aid Fitting
NCT00323427PHASE2COMPLETEDClinical Trial of the Living Well With Hearing Loss Workshop
NCT00552786PHASE2COMPLETEDAntioxidation Medication for Noise-induced Hearing Loss
NCT00802425PHASE2COMPLETEDEfficacy of AM-111 in Patients With Acute Sensorineural Hearing Loss
NCT01139281PHASE2COMPLETEDThe Protective Effect of Ginkgo Biloba Extract on Cisplatin-induced Ototoxicity in Humans
NCT01451853PHASE2UNKNOWNSPI-1005 for Prevention and Treatment of Chemotherapy Induced Hearing Loss
NCT01588925PHASE2COMPLETEDHearing Preservation Using Dexamethasone and Hyaluronic Acid for Cochlear Implantation
NCT01773278PHASE2RECRUITINGCholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS)
NCT02832128PHASE2COMPLETEDEvaluating Possible Improvement in Speech and Hearing Tests After 28 Days of Dosing of the Study Drug AUT00063 Compared to Placebo (QuicKfire)
NCT04915183PHASE2RECRUITINGAtorvastatin to Reduce Cisplatin-Induced Hearing Loss Among Individuals With Head and Neck Cancer
NCT05258773PHASE2COMPLETEDEvaluation of the Presence of SENS-401 in the Perilymph
NCT06340633PHASE2RECRUITINGSPI-1005 in Adults Receiving Cochlear Implant
NCT00503191PHASE1COMPLETEDNeuroModulation Technique Treatment of Autism
NCT04475848PHASE1COMPLETEDA Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Food Effect of RO6953958 in Healthy Participants
NCT06300398PHASE1COMPLETEDIAMA-6 Oral Dose Study in Healthy Adults
NCT00582946PHASE1COMPLETEDWide-Bandwidth Open Canal Hearing Aid For Better Multitalker Speech Understanding
NCT00584155PHASE1WITHDRAWNProtection From Cisplatin Ototoxicity by Lactated Ringers
NCT01206829PHASE1UNKNOWNHearing Impairment, Cognitive Therapy and Coping
NCT01256229PHASE1COMPLETEDOutcomes In Children With Developmental Delay And Deafness
NCT01343394PHASE1WITHDRAWNSafety of Autologous Human Umbilical Cord Blood Mononuclear Fraction to Treat Acquired Hearing Loss in Children
NCT01452607PHASE1COMPLETEDStudy to Evaluate the Safety and Pharmacokinetics of SPI-1005
NCT02259595PHASE1COMPLETEDStudy to Determine the Safety, Tolerability, and Pharmacokinetic Profile of HPN-07 and HPN-07 Plus NAC