GATA3
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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
| Field | Value |
|---|---|
| HGNC ID | HGNC:4172 |
| Approved symbol | GATA3 |
| Name | GATA binding protein 3 |
| Location | 10p14 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | HDR |
| Ensembl gene | ENSG00000107485 |
| Ensembl biotype | protein_coding |
| OMIM | 131320 |
| Entrez | 2625 |
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
| Exon | Start | End |
|---|---|---|
| ENSE00000837293 | 8055287 | 8055896 |
| ENSE00000837294 | 8058305 | 8058841 |
| ENSE00000837295 | 8073739 | 8075198 |
| ENSE00001000938 | 8054688 | 8054891 |
| ENSE00001751140 | 8063993 | 8064138 |
| ENSE00003626231 | 8069473 | 8069598 |
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 ID | TPM avg | Samples expressed |
|---|---|---|
| 103787 | 44.7207 | 599 |
| 103788 | 8.5358 | 569 |
| 103786 | 4.1669 | 516 |
| 103792 | 3.0694 | 238 |
| 103781 | 1.8485 | 181 |
| 103791 | 1.6141 | 175 |
| 103800 | 1.3228 | 165 |
| 103780 | 0.5965 | 155 |
| 103790 | 0.4536 | 122 |
| 103789 | 0.2963 | 128 |
Top tissues by expression
283 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| upper leg skin | UBERON:0004262 | 99.63 | gold quality |
| skin of hip | UBERON:0001554 | 99.47 | gold quality |
| endometrium epithelium | UBERON:0004811 | 99.47 | gold quality |
| nipple | UBERON:0002030 | 99.46 | gold quality |
| upper arm skin | UBERON:0004263 | 99.22 | gold quality |
| mammary duct | UBERON:0001765 | 98.98 | gold quality |
| epithelium of mammary gland | UBERON:0003244 | 98.84 | gold quality |
| renal medulla | UBERON:0000362 | 98.55 | gold quality |
| seminal vesicle | UBERON:0000998 | 97.92 | gold quality |
| skin of abdomen | UBERON:0001416 | 97.45 | gold quality |
| mammalian vulva | UBERON:0000997 | 97.44 | gold quality |
| zone of skin | UBERON:0000014 | 97.28 | gold quality |
| corpus epididymis | UBERON:0004359 | 97.03 | gold quality |
| skin of leg | UBERON:0001511 | 96.80 | gold quality |
| placenta | UBERON:0001987 | 96.78 | gold quality |
| hair follicle | UBERON:0002073 | 95.95 | gold quality |
| mucosa of urinary bladder | UBERON:0001259 | 95.63 | gold quality |
| cauda epididymis | UBERON:0004360 | 95.42 | gold quality |
| decidua | UBERON:0002450 | 95.33 | gold quality |
| mammary gland | UBERON:0001911 | 94.22 | gold quality |
| thoracic mammary gland | UBERON:0005200 | 94.15 | gold quality |
| buccal mucosa cell | CL:0002336 | 93.55 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 93.37 | gold quality |
| parotid gland | UBERON:0001831 | 93.29 | gold quality |
| thymus | UBERON:0002370 | 93.14 | gold quality |
| urethra | UBERON:0000057 | 92.45 | gold quality |
| penis | UBERON:0000989 | 92.06 | gold quality |
| amniotic fluid | UBERON:0000173 | 89.04 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 88.95 | gold quality |
| kidney | UBERON:0002113 | 88.03 | gold quality |
Single-cell (SCXA)
Detected in 14 experiment(s), a significant marker in 12.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-70580 | yes | 1617.57 |
| E-HCAD-10 | yes | 938.77 |
| E-MTAB-6701 | yes | 936.98 |
| E-MTAB-10018 | yes | 923.50 |
| E-CURD-84 | yes | 541.65 |
| E-GEOD-114530 | yes | 486.34 |
| E-MTAB-8142 | yes | 120.47 |
| E-CURD-119 | yes | 30.66 |
| E-ANND-3 | yes | 19.08 |
| E-CURD-122 | yes | 9.44 |
| E-MTAB-9388 | yes | 7.23 |
| E-MTAB-6678 | yes | 6.42 |
| E-CURD-112 | no | 926.29 |
| E-CURD-89 | no | 587.72 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
214 targets.
| Target | Regulation |
|---|---|
| ABCB1 | |
| ABCC2 | Unknown |
| ABCC3 | |
| ACTR6 | |
| ADAM2 | |
| ALDH1A2 | Unknown |
| ANXA2P3 | |
| APBA1 | Unknown |
| ARNT2 | Unknown |
| ATOX1 | |
| ATP2B1 | Unknown |
| ATXN10 | Unknown |
| AURKA | Unknown |
| AURKAIP1 | |
| BCAS3 | Unknown |
| BCL2L1 | Activation |
| BHLHE41 | Activation |
| BIRC5 | |
| BLCAP | Unknown |
| BMP2 | |
| BPIFB1 | Unknown |
| CALR | |
| CCL27 | |
| CCND1 | Unknown |
| CCR5 | Repression |
| CD28 | |
| CD38 | |
| CD3E | |
| CD4 | Activation |
| CD40LG | Activation |
JASPAR motifs
| Motif | Name | Family |
|---|---|---|
| MA0037.1 | GATA3 | C4-GATA-related |
| MA0037.2 | GATA3 | C4-GATA-related |
| MA0037.3 | GATA3 | C4-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):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-513B-5P | 99.99 | 69.96 | 2150 |
| HSA-MIR-34A-5P | 99.99 | 71.21 | 1784 |
| HSA-MIR-449A | 99.99 | 71.05 | 1776 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-27A-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-27B-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-9985 | 99.98 | 72.11 | 2939 |
| HSA-MIR-499A-5P | 99.98 | 70.79 | 1323 |
| HSA-LET-7F-2-3P | 99.98 | 70.98 | 2588 |
| HSA-MIR-1185-1-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-1185-2-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-4789-5P | 99.98 | 70.76 | 2721 |
| HSA-MIR-433-3P | 99.98 | 69.37 | 1203 |
| HSA-MIR-548AN | 99.97 | 70.91 | 2817 |
| HSA-MIR-34C-5P | 99.97 | 70.45 | 1577 |
| HSA-MIR-449B-5P | 99.97 | 70.26 | 1580 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
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
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | gata3 | ENSDARG00000016526 |
| mus_musculus | Gata3 | ENSMUSG00000015619 |
| rattus_norvegicus | Gata3 | ENSRNOG00000019336 |
| drosophila_melanogaster | srp | FBGN0003507 |
| drosophila_melanogaster | GATAd | FBGN0032223 |
| caenorhabditis_elegans | WBGENE00001250 | |
| caenorhabditis_elegans | WBGENE00001252 |
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-3 — P23771 (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 ID | Names | Canonical? |
|---|---|---|
| P23771-1 | 1 | yes |
| P23771-2 | 2 |
RefSeq proteins (2): NP_001002295, NP_002042 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000679 | Znf_GATA | Domain |
| IPR013088 | Znf_NHR/GATA | Homologous_superfamily |
| IPR016374 | TF_GATA-2/3 | Family |
| IPR039355 | Transcription_factor_GATA | Family |
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.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 4HC9 | X-RAY DIFFRACTION | 1.6 |
| 4HC7 | X-RAY DIFFRACTION | 2.65 |
| 4HCA | X-RAY DIFFRACTION | 2.8 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P23771-F1 | 58.51 | 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 (2): 115, 162
Function
Pathways and Gene Ontology
Reactome pathways
8 pathways
| ID | Pathway |
|---|---|
| R-HSA-5689880 | Ub-specific processing proteases |
| R-HSA-6785807 | Interleukin-4 and Interleukin-13 signaling |
| R-HSA-8939236 | RUNX1 regulates transcription of genes involved in differentiation of HSCs |
| R-HSA-9018519 | Estrogen-dependent gene expression |
| R-HSA-9830364 | Formation of the nephric duct |
| R-HSA-983231 | Factors involved in megakaryocyte development and platelet production |
| R-HSA-9938206 | Developmental Lineage of Mammary Stem Cells |
| R-HSA-9976102 | Differentiation 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:
| Category | Pathways |
|---|---|
| Deubiquitination | 1 |
| Signaling by Interleukins | 1 |
| Transcriptional regulation by RUNX1 | 1 |
| ESR-mediated signaling | 1 |
| Kidney development | 1 |
| Hemostasis | 1 |
| Developmental Lineages of the Mammary Gland | 1 |
| Differentiation of T cells | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 4 |
| transcription cis-regulatory region binding | 3 |
| regulation of transcription by RNA polymerase II | 2 |
| DNA-binding transcription factor activity, RNA polymerase II-specific | 2 |
| cellular anatomical structure | 2 |
| transcription by RNA polymerase II | 1 |
| negative regulation of DNA-templated transcription | 1 |
| chordate embryonic development | 1 |
| cell fate commitment | 1 |
| cellular developmental process | 1 |
| cell migration | 1 |
| generation of neurons | 1 |
| T cell mediated immunity | 1 |
| hypersensitivity | 1 |
| cytokine production | 1 |
| regulation of gene expression | 1 |
| regulation of multicellular organismal process | 1 |
| animal organ development | 1 |
| renal system development | 1 |
| kidney development | 1 |
| camera-type eye development | 1 |
| anatomical structure development | 1 |
| immune system process | 1 |
| system development | 1 |
| lymphoid progenitor cell differentiation | 1 |
| T cell differentiation | 1 |
| aortic valve development | 1 |
| heart valve morphogenesis | 1 |
| cardiac ventricle morphogenesis | 1 |
| cardiac ventricle development | 1 |
| cardiac septum development | 1 |
| chromatin organization | 1 |
| DNA-templated transcription | 1 |
| response to stress | 1 |
| defense response | 1 |
| immune response | 1 |
| cell communication | 1 |
| cellular process | 1 |
| signaling | 1 |
| regulation of cellular process | 1 |
Protein interactions and networks
STRING
5626 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| GATA3 | RUNX1 | Q01196 | 977 |
| GATA3 | TBX21 | Q9UL17 | 957 |
| GATA3 | FOXA1 | P55317 | 950 |
| GATA3 | TAL1 | P17542 | 938 |
| GATA3 | ESR1 | P03372 | 911 |
| GATA3 | IL4 | P05112 | 909 |
| GATA3 | ETS1 | P14921 | 902 |
| GATA3 | CD4 | P01730 | 897 |
| GATA3 | STAT6 | P42226 | 887 |
| GATA3 | IL13 | P35225 | 882 |
| GATA3 | IFNG | P01579 | 880 |
| GATA3 | IL5 | P05113 | 876 |
| GATA3 | BMI1 | P35226 | 851 |
| GATA3 | R4GMX3 | R4GMX3 | 851 |
| GATA3 | FOXP3 | Q9BZS1 | 850 |
IntAct
138 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| RARA | NCOR1 | psi-mi:“MI:0914”(association) | 0.800 |
| ESR1 | PGR | psi-mi:“MI:0915”(physical association) | 0.770 |
| MTA3 | MBD3 | psi-mi:“MI:0914”(association) | 0.690 |
| ESR1 | GATA3 | psi-mi:“MI:0914”(association) | 0.620 |
| MTA3 | GATA3 | psi-mi:“MI:0914”(association) | 0.610 |
| EHMT2 | GATA3 | psi-mi:“MI:0914”(association) | 0.610 |
| GATA3 | EHMT2 | psi-mi:“MI:0914”(association) | 0.610 |
| GATA3 | EHMT2 | psi-mi:“MI:0407”(direct interaction) | 0.610 |
| GATA3 | MTA3 | psi-mi:“MI:0407”(direct interaction) | 0.610 |
| GATA3 | GCM1 | psi-mi:“MI:0915”(physical association) | 0.610 |
| GCM1 | GATA3 | psi-mi:“MI:0915”(physical association) | 0.610 |
| GCM1 | GATA3 | psi-mi:“MI:0403”(colocalization) | 0.610 |
| TBX21 | GATA3 | psi-mi:“MI:0914”(association) | 0.580 |
| TBX21 | GATA3 | psi-mi:“MI:0915”(physical association) | 0.580 |
| TBX21 | SP1 | psi-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.
| A | Effect | B | Mechanism |
|---|---|---|---|
| ASH2L | up-regulates | GATA3 | binding |
| GATA3 | down-regulates | PPARG | “transcriptional regulation” |
| GATA3 | down-regulates | CEBPA | binding |
| 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” |
| TBX21 | down-regulates | GATA3 | |
| GATA3 | down-regulates | TBX21 | |
| GATA3 | up-regulates | GATA3 | |
| STAT6 | up-regulates | GATA3 | |
| 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” | GATA3 | phosphorylation |
| CDK2 | “down-regulates quantity by destabilization” | GATA3 | phosphorylation |
| FBXW7 | “down-regulates quantity by destabilization” | GATA3 | ubiquitination |
| GATA3 | down-regulates | CEBPB | binding |
| 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” |
| GATA3 | down-regulates | Adipogenesis | |
| 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:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Differentiation of naive CD4+ T cells to T helper 2 cells (Th2 cells) | 10 | 28.7× | 6e-10 |
| NOTCH1 Intracellular Domain Regulates Transcription | 6 | 28.0× | 1e-05 |
| Nuclear Receptor transcription pathway | 6 | 23.6× | 2e-05 |
| RNA Polymerase I Transcription Initiation | 5 | 21.9× | 2e-04 |
| Regulation of PTEN gene transcription | 6 | 21.0× | 4e-05 |
| Constitutive Signaling by NOTCH1 PEST Domain Mutants | 5 | 19.3× | 3e-04 |
| Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants | 5 | 19.3× | 3e-04 |
| Adipogenesis | 5 | 15.3× | 5e-04 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| neuron fate specification | 5 | 61.6× | 2e-06 |
| negative regulation of miRNA transcription | 5 | 54.8× | 3e-06 |
| positive regulation of miRNA transcription | 7 | 35.7× | 2e-07 |
| epigenetic regulation of gene expression | 5 | 33.6× | 3e-05 |
| cerebral cortex development | 5 | 18.0× | 4e-04 |
| transcription by RNA polymerase II | 9 | 11.1× | 1e-05 |
| chromatin remodeling | 8 | 10.2× | 7e-05 |
| neuron differentiation | 5 | 8.8× | 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):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 79 |
| Likely pathogenic | 37 |
| Uncertain significance | 199 |
| Likely benign | 113 |
| Benign | 47 |
Top pathogenic / likely-pathogenic (30)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1065344 | NM_001002295.2(GATA3):c.389del (p.Leu130fs) | Pathogenic |
| 1174139 | NM_001002295.2(GATA3):c.864C>G (p.Cys288Trp) | Pathogenic |
| 1174140 | NM_001002295.2(GATA3):c.951del (p.Cys318fs) | Pathogenic |
| 1174524 | NM_001002295.2(GATA3):c.778+1G>A | Pathogenic |
| 1185058 | NM_001002295.2(GATA3):c.675C>A (p.Tyr225Ter) | Pathogenic |
| 1185679 | NM_001002295.2(GATA3):c.352_353del (p.Ser118fs) | Pathogenic |
| 1322981 | NM_001002295.2(GATA3):c.779-1G>C | Pathogenic |
| 1365325 | NM_001002295.2(GATA3):c.774dup (p.Thr259fs) | Pathogenic |
| 1366705 | NM_001002295.2(GATA3):c.836del (p.Gly279fs) | Pathogenic |
| 1406588 | NC_000010.10:g.(?8097619)(8739580_?)del | Pathogenic |
| 1452435 | NM_001002295.2(GATA3):c.404del (p.Pro135fs) | Pathogenic |
| 1455943 | NM_001002295.2(GATA3):c.1050+2T>C | Pathogenic |
| 1456792 | NM_001002295.2(GATA3):c.451_454del (p.Phe151fs) | Pathogenic |
| 1527578 | GRCh37/hg19 10p14(chr10:7943586-8120292) | Pathogenic |
| 1527579 | GRCh37/hg19 10p14(chr10:8046788-9979612) | Pathogenic |
| 16619 | GATA3, 900-KB DEL | Pathogenic |
| 16620 | GATA3, 250-KB DEL | Pathogenic |
| 16621 | NM_001002295.2(GATA3):c.465_513del (p.Thr156fs) | Pathogenic |
| 16622 | NM_001002295.2(GATA3):c.947_958del (p.Thr316_Ala319del) | Pathogenic |
| 16624 | NM_001002295.2(GATA3):c.823T>A (p.Trp275Arg) | Pathogenic |
| 16625 | NM_001002295.2(GATA3):c.901delinsAACCCT (p.Leu301fs) | Pathogenic |
| 16627 | NM_001002295.2(GATA3):c.431del (p.Gly144fs) | Pathogenic |
| 16628 | NM_001002295.2(GATA3):c.478del (p.Asp160fs) | Pathogenic |
| 16629 | NM_001002295.2(GATA3):c.924+2delinsGCTTACTTCCC | Pathogenic |
| 16630 | NM_001002295.2(GATA3):c.1059A>T (p.Arg353Ser) | Pathogenic |
| 1678812 | NM_001002295.2(GATA3):c.916C>T (p.Arg306Ter) | Pathogenic |
| 1685840 | NM_001002295.2(GATA3):c.381_388del (p.Gly128fs) | Pathogenic |
| 1685841 | NM_001002295.2(GATA3):c.925-3_925-2del | Pathogenic |
| 1687685 | NM_001002295.2(GATA3):c.815C>T (p.Thr272Ile) | Pathogenic |
| 2011955 | NM_001002295.2(GATA3):c.638C>A (p.Ser213Ter) | Pathogenic |
SpliceAI
910 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 10:8055895:CGGTG:C | donor_loss | 1.0000 |
| 10:8055897:G:C | donor_loss | 1.0000 |
| 10:8055898:T:TC | donor_loss | 1.0000 |
| 10:8055899:GAGT:G | donor_loss | 1.0000 |
| 10:8063992:GAA:G | acceptor_gain | 1.0000 |
| 10:8064134:GGCTG:G | donor_gain | 1.0000 |
| 10:8064135:GCTG:G | donor_gain | 1.0000 |
| 10:8064135:GCTGG:G | donor_gain | 1.0000 |
| 10:8064137:TGGTA:T | donor_loss | 1.0000 |
| 10:8064138:GGTAA:G | donor_loss | 1.0000 |
| 10:8064139:GTAA:G | donor_loss | 1.0000 |
| 10:8064140:TAA:T | donor_loss | 1.0000 |
| 10:8069471:A:AG | acceptor_gain | 1.0000 |
| 10:8069472:G:GG | acceptor_gain | 1.0000 |
| 10:8054888:CCAG:C | donor_loss | 0.9900 |
| 10:8054889:CAG:C | donor_loss | 0.9900 |
| 10:8054890:AG:A | donor_loss | 0.9900 |
| 10:8054892:G:GG | donor_loss | 0.9900 |
| 10:8055135:G:T | donor_gain | 0.9900 |
| 10:8055281:TTGCA:T | acceptor_loss | 0.9900 |
| 10:8055282:TGCAG:T | acceptor_loss | 0.9900 |
| 10:8055283:GCAG:G | acceptor_loss | 0.9900 |
| 10:8055284:CAGGT:C | acceptor_loss | 0.9900 |
| 10:8055285:A:AG | acceptor_gain | 0.9900 |
| 10:8055286:G:GG | acceptor_gain | 0.9900 |
| 10:8055407:ACCC:A | donor_gain | 0.9900 |
| 10:8055870:TGCAG:T | donor_gain | 0.9900 |
| 10:8055897:G:GG | donor_gain | 0.9900 |
| 10:8058292:C:CA | acceptor_gain | 0.9900 |
| 10:8058302:CAGGG:C | acceptor_gain | 0.9900 |
AlphaMissense
2899 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 10:8063999:G:T | R261M | 1.000 |
| 10:8064001:G:A | E262K | 1.000 |
| 10:8064004:T:A | C263S | 1.000 |
| 10:8064004:T:C | C263R | 1.000 |
| 10:8064005:G:A | C263Y | 1.000 |
| 10:8064005:G:C | C263S | 1.000 |
| 10:8064005:G:T | C263F | 1.000 |
| 10:8064006:T:G | C263W | 1.000 |
| 10:8064010:A:G | N265D | 1.000 |
| 10:8064011:A:T | N265I | 1.000 |
| 10:8064012:C:A | N265K | 1.000 |
| 10:8064012:C:G | N265K | 1.000 |
| 10:8064013:T:A | C266S | 1.000 |
| 10:8064013:T:C | C266R | 1.000 |
| 10:8064013:T:G | C266G | 1.000 |
| 10:8064014:G:A | C266Y | 1.000 |
| 10:8064014:G:C | C266S | 1.000 |
| 10:8064014:G:T | C266F | 1.000 |
| 10:8064015:T:G | C266W | 1.000 |
| 10:8064016:G:A | G267R | 1.000 |
| 10:8064016:G:C | G267R | 1.000 |
| 10:8064016:G:T | G267W | 1.000 |
| 10:8064017:G:A | G267E | 1.000 |
| 10:8064017:G:T | G267V | 1.000 |
| 10:8064019:G:C | A268P | 1.000 |
| 10:8064025:T:C | S270P | 1.000 |
| 10:8064029:C:A | T271N | 1.000 |
| 10:8064029:C:T | T271I | 1.000 |
| 10:8064031:C:T | P272S | 1.000 |
| 10:8064032:C:A | P272Q | 1.000 |
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
| Disease | Classification | Inheritance |
|---|---|---|
| hypoparathyroidism-deafness-renal disease syndrome | Definitive | Autosomal dominant |
ClinGen Gene-Disease Validity (1)
Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.
| Disease | Classification | Inheritance |
|---|---|---|
| hypoparathyroidism-deafness-renal disease syndrome | Definitive | AD |
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):
| HPO | Term |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000076 | Vesicoureteral reflux |
| HP:0000083 | Renal insufficiency |
| HP:0000093 | Proteinuria |
| HP:0000100 | Nephrotic syndrome |
| HP:0000110 | Renal dysplasia |
| HP:0000113 | Polycystic kidney dysplasia |
| HP:0000121 | Nephrocalcinosis |
| HP:0000122 | Unilateral renal agenesis |
| HP:0000126 | Hydronephrosis |
| HP:0000148 | Vaginal atresia |
| HP:0000151 | Aplasia of the uterus |
| HP:0000175 | Cleft palate |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000408 | Progressive sensorineural hearing impairment |
| HP:0000508 | Ptosis |
| HP:0000510 | Rod-cone dystrophy |
| HP:0000538 | Pseudopapilledema |
| HP:0000666 | Horizontal nystagmus |
| HP:0000786 | Primary amenorrhea |
| HP:0000790 | Hematuria |
| HP:0000819 | Diabetes mellitus |
| HP:0000829 | Hypoparathyroidism |
| HP:0000860 | Parathyroid hypoplasia |
| HP:0001153 | Septate vagina |
| HP:0001281 | Tetany |
| HP:0001627 | Abnormal heart morphology |
| HP:0002049 | Proximal renal tubular acidosis |
| HP:0002135 | Basal ganglia calcification |
| HP:0002199 | Hypocalcemic seizures |
GWAS associations
111 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000851_1 | Hodgkin’s lymphoma | 7.000000e-08 |
| GCST002083_8 | Self-reported allergy | 2.000000e-08 |
| GCST002158_2 | Acute lymphoblastic leukemia (B-cell precursor) | 9.000000e-12 |
| GCST002201_4 | Calcium levels | 5.000000e-09 |
| GCST002318_110 | Rheumatoid arthritis | 3.000000e-09 |
| GCST002318_111 | Rheumatoid arthritis | 2.000000e-08 |
| GCST002411_1 | Colorectal cancer | 7.000000e-11 |
| GCST002415_8 | Colorectal cancer (diet interaction) | 9.000000e-09 |
| GCST002480_6 | Hodgkin’s lymphoma | 3.000000e-06 |
| GCST002713_1 | Acute lymphoblastic leukemia (adolescents and young adults) | 3.000000e-10 |
| GCST002842_13 | Basal cell carcinoma | 2.000000e-16 |
| GCST002880_3 | Recalcitrant atopic dermatitis | 1.000000e-07 |
| GCST002919_9 | Colorectal cancer | 4.000000e-13 |
| GCST002987_8 | Stroke | 1.000000e-07 |
| GCST003124_22 | Mild influenza (H1N1) infection | 3.000000e-08 |
| GCST003155_2 | Systemic lupus erythematosus | 9.000000e-08 |
| GCST003474_2 | Scalp hair shape | 4.000000e-08 |
| GCST003726_8 | Basal cell carcinoma | 3.000000e-23 |
| GCST003814_1 | Selective IgA deficiency | 5.000000e-08 |
| GCST003987_13 | Asthma | 8.000000e-12 |
| GCST003990_12 | Allergy | 6.000000e-11 |
| GCST004227_6 | Obstetric antiphospholipid syndrome | 8.000000e-07 |
| GCST004412_5 | Craniofacial microsomia | 5.000000e-09 |
| GCST004606_192 | Eosinophil count | 7.000000e-09 |
| GCST004638_1 | Benign prostatic hyperplasia and/or lower urinary tract symptoms | 9.000000e-07 |
| GCST004839_1 | Colorectal cancer | 9.000000e-08 |
| GCST005038_128 | Allergic disease (asthma, hay fever or eczema) | 8.000000e-09 |
| GCST005038_129 | Allergic disease (asthma, hay fever or eczema) | 3.000000e-11 |
| GCST005038_130 | Allergic disease (asthma, hay fever or eczema) | 2.000000e-22 |
| GCST005038_24 | Allergic disease (asthma, hay fever or eczema) | 2.000000e-12 |
EFO canonical traits (14, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004838 | calcium measurement |
| EFO:0008111 | diet measurement |
| EFO:1000651 | recalcitrant atopic dermatitis |
| EFO:1001488 | influenza A (H1N1) |
| EFO:0004842 | eosinophil count |
| EFO:0008008 | lower urinary tract symptom |
| EFO:0008579 | risk-taking behaviour |
| EFO:0004318 | smoking behavior |
| EFO:1002011 | adult onset asthma |
| EFO:0004469 | HOMA-B |
| EFO:0007991 | eosinophil percentage of leukocytes |
| EFO:0004587 | lymphocyte count |
| EFO:0007993 | lymphocyte percentage of leukocytes |
| EFO:0007990 | neutrophil percentage of leukocytes |
MeSH disease descriptors (5)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D034381 | Hearing Loss | C09.218.458.341; C10.597.751.418.341; C23.888.592.763.393.341 |
| D065886 | Neurodevelopmental Disorders | F03.625 |
| C537907 | Barakat syndrome (supp.) | |
| C562840 | Breast Cancer, Familial (supp.) | |
| C566906 | Cakut (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB clinical annotations
2 annotations.
| Variant | Type | Level | Drugs | Phenotypes |
|---|---|---|---|---|
| rs3824662 | Efficacy | 3 | asparaginase;cyclophosphamide;cytarabine;daunorubicin;dexamethasone;doxorubicin;leucovorin;mercaptopurine;methotrexate;pegaspargase;prednisone;thioguanine;vincristine | |
| rs3824662 | Toxicity | 3 | glucarpidase | Nephrotoxicity |
PharmGKB variants
1 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs3824662 | GATA3 | 3 | 6.00 | 2 | asparaginase;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.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, increases methylation | 7 |
| sodium arsenite | increases abundance, increases stability, decreases reaction, increases expression, affects methylation (+1 more) | 6 |
| trichostatin A | decreases expression, increases expression, affects cotreatment | 4 |
| bisphenol A | decreases expression | 3 |
| Vorinostat | affects cotreatment, increases expression | 3 |
| Tretinoin | increases expression | 3 |
| methylmercuric chloride | decreases expression, increases expression | 2 |
| N’-nitrosonornicotine | increases expression, decreases reaction, increases activity | 2 |
| 4-(N-methyl-N-nitrosamino)-1-(3-pyridyl)-1-butanone | increases activity, increases expression, decreases reaction | 2 |
| mercuric bromide | increases expression, affects cotreatment | 2 |
| entinostat | increases expression, affects cotreatment | 2 |
| belinostat | increases expression, affects cotreatment | 2 |
| Panobinostat | affects cotreatment, increases expression | 2 |
| Nickel | decreases expression, increases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| Dronabinol | decreases reaction, increases expression, affects reaction | 2 |
| Aflatoxin B1 | decreases methylation, increases methylation | 2 |
| Cadmium Chloride | decreases expression, increases expression | 2 |
| p-Chloromercuribenzoic Acid | affects cotreatment, increases expression | 2 |
| 3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide | affects splicing | 1 |
| Esketamine | decreases expression | 1 |
| Asian ginseng | affects cotreatment, decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| 2-methyl-4-isothiazolin-3-one | increases expression | 1 |
| arsenite | increases methylation | 1 |
| 4-hydroxy-2-nonenal | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| 4-((3-bromophenyl)amino)-6,7-dimethoxyquinazoline | decreases expression, affects cotreatment, increases expression | 1 |
| corosolic acid | increases expression | 1 |
| rofecoxib | decreases expression | 1 |
Cellosaurus cell lines
751 cell lines: 748 cancer cell line, 3 embryonic stem cell
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_0031 | MCF-7 | Cancer cell line | Female |
| CVCL_0088 | MCF-7L | Cancer cell line | Female |
| CVCL_0404 | M7TS90 | Cancer cell line | Female |
| CVCL_0412 | MCF-7/2a | Cancer cell line | Female |
| CVCL_0413 | MCF7/BUS | Cancer cell line | Female |
| CVCL_0415 | MCF7mp53 | Cancer cell line | Female |
| CVCL_0U80 | MCF-7/HER2-18 | Cancer cell line | Female |
| CVCL_1D32 | MCF7 AREc32 | Cancer cell line | Female |
| CVCL_1D38 | MCF-7/164R-5 | Cancer cell line | Female |
| CVCL_1D39 | MCF-7/164R-7 | Cancer cell line | Female |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT04586348 | PHASE4 | UNKNOWN | Prenatal Iodine Supplementation and Early Childhood Neurodevelopment |
| NCT04873115 | PHASE4 | UNKNOWN | Double-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, |
| NCT00205881 | PHASE4 | COMPLETED | Bilateral Benefit in Adult Users of the HiRes 90K Bionic Ear System |
| NCT00331539 | PHASE4 | UNKNOWN | Relationship Between Auto NRT and Behavioural T & C Levels With the Nucleus Freedom Cochlear Implant |
| NCT00424307 | PHASE4 | UNKNOWN | Bilateral Cochlear Implant Benefit in Young Children |
| NCT00765635 | PHASE4 | COMPLETED | Chlorobutanol, Potassium Carbonate, and Irrigation in Cerumen Removal |
| NCT03321006 | PHASE4 | COMPLETED | Treating Hearing Loss to Improve Mood and Cognition in Older Adults |
| NCT02559102 | PHASE3 | COMPLETED | Dexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery in Infants |
| NCT02757079 | PHASE3 | COMPLETED | Study of the Efficacy and Safety of NPC-15 for Sleep Disorders of Children With Neurodevelopmental Disorders |
| NCT06915480 | PHASE3 | RECRUITING | Reducing Missed Appointments |
| NCT07377032 | PHASE3 | RECRUITING | TAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders |
| NCT01499901 | PHASE3 | WITHDRAWN | Comparison of the Bilateral Sequential and Simultaneous Cochlear Implantation in the Deaf Children |
| NCT02561091 | PHASE3 | COMPLETED | AM-111 in the Treatment of Acute Inner Ear Hearing Loss |
| NCT03331627 | PHASE3 | COMPLETED | Safety and Efficacy of STR001-IT and STR001-ER in Patients With SSHL |
| NCT05532657 | PHASE3 | ACTIVE_NOT_RECRUITING | ACHIEVE Brain Health Follow-Up Study |
| NCT02909959 | PHASE2 | COMPLETED | Sulforaphane for the Treatment of Young Men With Autism Spectrum Disorder |
| NCT06081348 | PHASE2 | RECRUITING | Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders |
| NCT06352372 | PHASE2 | COMPLETED | Safety and Efficacy of tPBM for Epileptiform Activity in Autism |
| NCT00013455 | PHASE2 | COMPLETED | Quantifying Auditory Perceptual Learning Following Hearing Aid Fitting |
| NCT00323427 | PHASE2 | COMPLETED | Clinical Trial of the Living Well With Hearing Loss Workshop |
| NCT00552786 | PHASE2 | COMPLETED | Antioxidation Medication for Noise-induced Hearing Loss |
| NCT00802425 | PHASE2 | COMPLETED | Efficacy of AM-111 in Patients With Acute Sensorineural Hearing Loss |
| NCT01139281 | PHASE2 | COMPLETED | The Protective Effect of Ginkgo Biloba Extract on Cisplatin-induced Ototoxicity in Humans |
| NCT01451853 | PHASE2 | UNKNOWN | SPI-1005 for Prevention and Treatment of Chemotherapy Induced Hearing Loss |
| NCT01588925 | PHASE2 | COMPLETED | Hearing Preservation Using Dexamethasone and Hyaluronic Acid for Cochlear Implantation |
| NCT01773278 | PHASE2 | RECRUITING | Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS) |
| NCT02832128 | PHASE2 | COMPLETED | Evaluating Possible Improvement in Speech and Hearing Tests After 28 Days of Dosing of the Study Drug AUT00063 Compared to Placebo (QuicKfire) |
| NCT04915183 | PHASE2 | RECRUITING | Atorvastatin to Reduce Cisplatin-Induced Hearing Loss Among Individuals With Head and Neck Cancer |
| NCT05258773 | PHASE2 | COMPLETED | Evaluation of the Presence of SENS-401 in the Perilymph |
| NCT06340633 | PHASE2 | RECRUITING | SPI-1005 in Adults Receiving Cochlear Implant |
| NCT00503191 | PHASE1 | COMPLETED | NeuroModulation Technique Treatment of Autism |
| NCT04475848 | PHASE1 | COMPLETED | A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Food Effect of RO6953958 in Healthy Participants |
| NCT06300398 | PHASE1 | COMPLETED | IAMA-6 Oral Dose Study in Healthy Adults |
| NCT00582946 | PHASE1 | COMPLETED | Wide-Bandwidth Open Canal Hearing Aid For Better Multitalker Speech Understanding |
| NCT00584155 | PHASE1 | WITHDRAWN | Protection From Cisplatin Ototoxicity by Lactated Ringers |
| NCT01206829 | PHASE1 | UNKNOWN | Hearing Impairment, Cognitive Therapy and Coping |
| NCT01256229 | PHASE1 | COMPLETED | Outcomes In Children With Developmental Delay And Deafness |
| NCT01343394 | PHASE1 | WITHDRAWN | Safety of Autologous Human Umbilical Cord Blood Mononuclear Fraction to Treat Acquired Hearing Loss in Children |
| NCT01452607 | PHASE1 | COMPLETED | Study to Evaluate the Safety and Pharmacokinetics of SPI-1005 |
| NCT02259595 | PHASE1 | COMPLETED | Study to Determine the Safety, Tolerability, and Pharmacokinetic Profile of HPN-07 and HPN-07 Plus NAC |
Related Atlas pages
- Associated diseases: hypoparathyroidism-deafness-renal disease syndrome
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): acute lymphoblastic leukemia, antiphospholipid syndrome, autoimmune disease, B-cell acute lymphoblastic leukemia, B-cell childhood acute lymphoblastic leukemia, benign prostatic hyperplasia, brain aneurysm, congenital anomaly of kidney and urinary tract, craniofacial microsomia, end stage renal failure, hereditary breast carcinoma, Hodgkins lymphoma, hypoparathyroidism-deafness-renal disease syndrome, nasal cavity polyp, nodular sclerosis classical Hodgkin lymphoma, ovarian neoplasm, selective IgA deficiency disease, Takayasu arteritis