ETS1
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Also known as FLJ10768ETS-1
Summary
ETS1 (ETS proto-oncogene 1, transcription factor, HGNC:3488) is a protein-coding gene on chromosome 11q24.3, encoding Protein C-ets-1 (P14921). Transcription factor.
This gene encodes a member of the ETS family of transcription factors, which are defined by the presence of a conserved ETS DNA-binding domain that recognizes the core consensus DNA sequence GGAA/T in target genes. These proteins function either as transcriptional activators or repressors of numerous genes, and are involved in stem cell development, cell senescence and death, and tumorigenesis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.
Source: NCBI Gene 2113 — RefSeq curated summary.
At a glance
- Gene–disease (curated): congenital heart disease (Moderate, ClinGen) — +3 more curated relationships
- GWAS associations: 107
- Clinical variants (ClinVar): 48 total — 1 pathogenic, 1 likely-pathogenic
- Phenotypes (HPO): 44
- Transcription factor: yes — 286 downstream targets (CollecTRI)
- MANE Select transcript:
NM_001143820
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:3488 |
| Approved symbol | ETS1 |
| Name | ETS proto-oncogene 1, transcription factor |
| Location | 11q24.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ10768, ETS-1 |
| Ensembl gene | ENSG00000134954 |
| Ensembl biotype | protein_coding |
| OMIM | 164720 |
| Entrez | 2113 |
Gene structure
Transcript identifiers
Ensembl transcripts: 14 — 11 protein_coding, 2 protein_coding_CDS_not_defined, 1 retained_intron
ENST00000319397, ENST00000392668, ENST00000525404, ENST00000526145, ENST00000527676, ENST00000530924, ENST00000531611, ENST00000535549, ENST00000608978, ENST00000900294, ENST00000917570, ENST00000917571, ENST00000917572, ENST00000917573
RefSeq mRNA: 4 — MANE Select: NM_001143820
NM_001143820, NM_001162422, NM_001330451, NM_005238
CCDS: CCDS44767, CCDS53724, CCDS81648, CCDS8475
Canonical transcript exons
ENST00000392668 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000917323 | 128463509 | 128463627 |
| ENSE00000917324 | 128480191 | 128480451 |
| ENSE00000917325 | 128484823 | 128485071 |
| ENSE00000917326 | 128486069 | 128486146 |
| ENSE00000917327 | 128489290 | 128489490 |
| ENSE00000917328 | 128490457 | 128490576 |
| ENSE00002159982 | 128458765 | 128462576 |
| ENSE00003590356 | 128556291 | 128556435 |
| ENSE00003641042 | 128573062 | 128573144 |
| ENSE00003705242 | 128587488 | 128587558 |
Expression profiles
Bgee: expression breadth ubiquitous, 263 present calls, max score 98.85.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 53.0774 / max 1288.4221, expressed in 1627 samples.
FANTOM5 promoters (10 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 123095 | 43.0546 | 1597 |
| 123098 | 6.2552 | 1155 |
| 123099 | 1.8651 | 824 |
| 123104 | 0.8330 | 263 |
| 123088 | 0.3542 | 178 |
| 123096 | 0.2867 | 119 |
| 123097 | 0.2188 | 95 |
| 123106 | 0.1775 | 93 |
| 123105 | 0.0168 | 2 |
| 123103 | 0.0155 | 9 |
Top tissues by expression
291 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| visceral pleura | UBERON:0002401 | 98.85 | gold quality |
| parietal pleura | UBERON:0002400 | 98.82 | gold quality |
| tibia | UBERON:0000979 | 98.78 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 98.77 | gold quality |
| lower lobe of lung | UBERON:0008949 | 98.71 | gold quality |
| superficial temporal artery | UBERON:0001614 | 98.23 | gold quality |
| colonic epithelium | UBERON:0000397 | 98.02 | gold quality |
| pericardium | UBERON:0002407 | 97.94 | gold quality |
| vena cava | UBERON:0004087 | 97.79 | gold quality |
| lymph node | UBERON:0000029 | 97.49 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 97.47 | gold quality |
| granulocyte | CL:0000094 | 97.29 | gold quality |
| pleura | UBERON:0000977 | 96.80 | gold quality |
| skin of hip | UBERON:0001554 | 96.68 | gold quality |
| synovial joint | UBERON:0002217 | 96.65 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 96.43 | gold quality |
| omental fat pad | UBERON:0010414 | 96.39 | gold quality |
| peritoneum | UBERON:0002358 | 96.37 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 96.36 | gold quality |
| gall bladder | UBERON:0002110 | 96.35 | gold quality |
| saphenous vein | UBERON:0007318 | 96.29 | gold quality |
| mammary duct | UBERON:0001765 | 96.21 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 96.20 | gold quality |
| adipose tissue | UBERON:0001013 | 96.02 | gold quality |
| amniotic fluid | UBERON:0000173 | 96.01 | gold quality |
| spleen | UBERON:0002106 | 95.96 | gold quality |
| connective tissue | UBERON:0002384 | 95.89 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 95.67 | gold quality |
| right lung | UBERON:0002167 | 95.40 | gold quality |
| upper lobe of lung | UBERON:0008948 | 95.39 | gold quality |
Single-cell (SCXA)
Detected in 19 experiment(s), a significant marker in 16.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-10553 | yes | 1339.19 |
| E-CURD-112 | yes | 469.18 |
| E-MTAB-8142 | yes | 126.04 |
| E-MTAB-9221 | yes | 50.46 |
| E-CURD-46 | yes | 45.34 |
| E-CURD-122 | yes | 36.50 |
| E-HCAD-10 | yes | 31.72 |
| E-CURD-88 | yes | 31.54 |
| E-CURD-119 | yes | 27.76 |
| E-MTAB-8410 | yes | 27.00 |
| E-MTAB-8271 | yes | 15.57 |
| E-ANND-3 | yes | 15.16 |
| E-MTAB-9543 | yes | 14.45 |
| E-GEOD-130148 | yes | 7.32 |
| E-MTAB-9067 | yes | 5.18 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
286 targets.
| Target | Regulation |
|---|---|
| ABCB1 | Activation |
| ABCC1 | Unknown |
| ACE | Unknown |
| ADAM2 | |
| AKR1B10 | Activation |
| ALG12 | |
| ANG | Unknown |
| ANGPT2 | Activation |
| ANPEP | Activation |
| ARHGDIB | Unknown |
| ASAP1 | Unknown |
| ATP11C | |
| ATP2A3 | Activation |
| ATXN2 | Unknown |
| B3GAT3 | Unknown |
| B4GALT1 | |
| B4GALT5 | |
| BAX | Repression |
| BCL2 | Unknown |
| BCL2L1 | Unknown |
| BID | Unknown |
| BIRC2 | Unknown |
| BIRC3 | |
| BMP4 | Activation |
| C3AR1 | Activation |
| CA9 | Repression |
| CASP1 | Activation |
| CASP3 | Activation |
| CASP8 | Activation |
| CAT |
JASPAR motifs
| Motif | Name | Family |
|---|---|---|
| MA0098.1 | ETS1 | Ets-related |
| MA0098.3 | ETS1 | Ets-related |
| MA0098.4 | ETS1 | Ets-related |
JASPAR matrix evidence (PMIDs): PMID:1542566, PMID:20517297
Upstream regulators (CollecTRI, top): AP1, DAXX, ETS1, ETS2, ETV4, ETV7, FOS, GLI3, HIF1A, JUN, NFE2L2, NFKB, NR3C1, POU2F1, POU2F2, RARA, RXRA, SP100, SP1, TFAP2A, TOX2, TP53, WT1, XRCC5
miRNA regulators (miRDB)
246 targeting ETS1, 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-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-3924 | 100.00 | 72.09 | 2394 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-3667-3P | 99.99 | 67.17 | 1636 |
| HSA-MIR-181A-5P | 99.99 | 72.96 | 2995 |
| HSA-MIR-181B-5P | 99.99 | 72.97 | 2996 |
| HSA-MIR-181C-5P | 99.99 | 72.95 | 2996 |
| HSA-MIR-181D-5P | 99.99 | 73.04 | 2997 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-33A-5P | 99.99 | 68.62 | 1055 |
| HSA-MIR-33B-5P | 99.99 | 68.58 | 1062 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-499A-5P | 99.98 | 70.79 | 1323 |
| HSA-MIR-3617-3P | 99.98 | 67.86 | 918 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
Literature-anchored findings (GeneRIF, showing 40)
- Hepatocyte growth factor induces collagenase (matrix metalloproteinase-1) via the transcription factor Ets-1 in human hepatic stellate cell line. (PMID:11830328)
- c-Ets1 expression in epithelial ovarian cancer correlates to the malignant potential of the tumor. (PMID:11836635)
- Sp100 interacts with ETS-1 and stimulates its transcriptional activity. (PMID:11909962)
- Epidermal growth factor-mediated activation of the ETS domain transcription factor Elk-1 requires nuclear calcium (PMID:11971908)
- cooperatively binds to the palindromic head to head ETS-binding sites of the stromelysin-1 promoter by counteracting autoinhibition (PMID:12034715)
- Coexpression of P-glycoprotein, Ets-1, and p53 in oral carcinoma is associated with poor prognosis (PMID:12073053)
- results showed a significant correlation between microvessel counts and ets-1 gene expression levels in uterine cervical cancers;localization of ETS-1 was similar to that of vascular endothelial cells (PMID:12377648)
- results showed a significant correlation between microvessel count and ets-1 gene expression levels in uterine endometrial cancers; localization of ETS-1 was similar to that of vascular endothelial cells (PMID:12377649)
- HIF-2alpha and Ets-1 binding is required for transcriptional activation of Flk-1 in endothelial cells (PMID:12464608)
- Its expression is an independent prognostic marker for relapse-free survival in breast cancer (PMID:12466970)
- ETS1 phosphorylation by CAMKII is regulated in a pathway with calcium and GM-CSF (PMID:12475968)
- ETS1 may be regulated by PKCalpha in invasive breast cancer cells (PMID:12632071)
- a splicing variant of Ets1 is downregulated in invasive Ets1-expressing breast cancer cells (PMID:12632078)
- interacts with EAPII and modulates its transcriptional function (PMID:12743594)
- AP-2alpha gene expression in the placenta is enhanced by a cis-acting element at nucleotides -1279 to -1139 that contains a critical Ets1-binding site. (PMID:12843180)
- findings suggest a potential mechanism by which PTHrP transcription may be regulated by Ets-1 as a consequence of events that promote tumorigenic behavior in breast epithelial cells (PMID:12850290)
- Ets-1 expression may be an important pathogenic mechanism and predictor of aggressive biologic behavior of cutaneous melanoma (PMID:12920221)
- ets-1 together with microvessel density determined by CD105 may have prognostic value in the multistep event of carcinogenesis. (PMID:12932931)
- Upregulation of Ets 1 transcription factor ia assiciated with neoplasm invasiveness in Hereditary nonpolyposis colorectal cancers (PMID:12949792)
- overexpression of ETS-1 is associated with angiogenesis and ovarian cancer progression (PMID:12967474)
- binding of ETS transcription factors to the ETS binding sites in the human LIF promoter is critical for its inducibility in response to T cell activators and play an important functional role within the endocrine-immune network. (PMID:14557674)
- p53 inhibits transcriptional activation of invasion gene thromboxane synthase mediated by the proto-oncogenic factor ets-1. (PMID:14586398)
- Ets-1 is involved in transcriptional regulation of factors involved in invasion of melanoma cells. (PMID:14704859)
- Ets-1 expression is increased in asthma and contributes to enhanced expression of TNF-alpha-induced matrix metalloproteinase-9 and tenascin in bronchial fibroblasts activated ex vivo. (PMID:14734780)
- a novel, functional binding element in the proximal region of the TN-C promoter mediating responsiveness to TGF-beta involving Smad3/4, Sp1, Ets1, and CBP/p300 (PMID:15001984)
- Data suggest that glycogen synthase kinase-3beta-phosphorylated Ets1 is a target of Runx1-recruited calcineurin phosphatase at the granulocyte macrophage colony-stimulating factor promoter. (PMID:15123671)
- Ets-1 regulated angiogenesis through the induction of angiogenic growth factors (VEGF and HGF). (PMID:15173033)
- SP100 modulates ETS1-dependent biological processes (PMID:15247905)
- ETS-1 in ovarian endometriomas is significantly positively correlated with microvessel counts. (PMID:15302318)
- Protein kinase C is a potential regulator of Ets1 activity in breast cancer cells. (PMID:15389378)
- proximal 5’-flanking region of the IKKalpha gene contains a functional promoter reciprocally regulated by p53 and ETS-1 (PMID:15469934)
- Ets1 serves as an effector for protein kinase C alpha to fulfil certain functions in cancer ce (PMID:15531915)
- Interleukins 2 and 15 regulate Ets1 expression via ERK1/2 and MNK1 in human natural killer cells (PMID:15563472)
- Ras/mitogen-activated protein kinase signaling activates ETS-1 by CBPp300 recruitment. (PMID:15572696)
- Ets-1 has a role in breast tumor growth and spread [review] (PMID:15574387)
- Associated with tumour growth and histological differentiation of breast carcinomas. (PMID:15578430)
- Genes that are negatively regulated by ETS1 and upregulated by SP100 have antimigratory or antiangiogenic properties. (PMID:15592518)
- Results suggest that Ets-1 might play an important role in carcinogenesis and/or the progression of human prostatic carcinomas. (PMID:15693893)
- Ets1 is activated in human adrenocortical cells expressing a mutated K-ras gene. (PMID:15699632)
- Modification of local protooncogene Ets-1 level is likely being involved in the regulation of melanoma growth (PMID:15848191)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ets1 | ENSDARG00000024431 |
| mus_musculus | Ets1 | ENSMUSG00000032035 |
| rattus_norvegicus | Ets1 | ENSRNOG00000008941 |
Paralogs (28): ETV1 (ENSG00000006468), ETV7 (ENSG00000010030), SPI1 (ENSG00000066336), ELF4 (ENSG00000102034), ETV2 (ENSG00000105672), ERF (ENSG00000105722), ELF2 (ENSG00000109381), ELK3 (ENSG00000111145), ETV3 (ENSG00000117036), ELF1 (ENSG00000120690), SPDEF (ENSG00000124664), ELK1 (ENSG00000126767), EHF (ENSG00000135373), ELF5 (ENSG00000135374), ETV6 (ENSG00000139083), FLI1 (ENSG00000151702), GABPA (ENSG00000154727), ERG (ENSG00000157554), ETS2 (ENSG00000157557), ELK4 (ENSG00000158711), ELF3 (ENSG00000163435), FEV (ENSG00000163497), SPIC (ENSG00000166211), ETV4 (ENSG00000175832), ETV5 (ENSG00000244405), ETV3L (ENSG00000253831), ERFL (ENSG00000268041), SPIB (ENSG00000269404)
Protein
Protein identifiers
Protein C-ets-1 — P14921 (reviewed: P14921)
Alternative names: p54
All UniProt accessions (2): P14921, V9GYD6
UniProt curated annotations — full annotation on UniProt →
Function. Transcription factor. Directly controls the expression of cytokine and chemokine genes in a wide variety of different cellular contexts. May control the differentiation, survival and proliferation of lymphoid cells. May also regulate angiogenesis through regulation of expression of genes controlling endothelial cell migration and invasion. Acts as a dominant-negative for isoform c-ETS-1A.
Subunit / interactions. Binds DNA as a homodimer; homodimerization is required for transcription activation. Interacts with MAF and MAFB. Interacts with PAX5; the interaction alters DNA-binding properties. Interacts with DAXX. Interacts with UBE2I. Interacts with SP100; the interaction is direct and modulates ETS1 transcriptional activity.
Subcellular location. Nucleus. Cytoplasm.
Tissue specificity. Highly expressed within lymphoid cells. Isoforms c-ETS-1A and Ets-1 p27 are both detected in all fetal tissues tested, but vary with tissue type in adult tissues. None is detected in brain or kidney.
Post-translational modifications. Sumoylated on Lys-15 and Lys-227, preferentially with SUMO2; which inhibits transcriptional activity. Ubiquitinated; which induces proteasomal degradation. Phosphorylation at Ser-251, Ser-282 and Ser-285 by CaMK2/CaMKII in response to calcium signaling decreases affinity for DNA: an increasing number of phosphoserines causes DNA-binding to become progressively weaker.
Activity regulation. Autoinhibited by a module composed of four alpha helices (HI-1, HI-2, H4, and H5) that flank the DNA-binding ETS domain, reducing the affinity for DNA. Phosphorylation by CaMK2/CaMKII in response to calcium signaling decreases affinity for DNA.
Induction. Up-regulated by retinoic acid, VEGF, TNF/TNFA, lipopolysaccharide and in response to hypoxia (at protein level).
Similarity. Belongs to the ETS family.
Isoforms (5)
| UniProt ID | Names | Canonical? |
|---|---|---|
| P14921-1 | c-ETS-1A, Ets-1 p51 | yes |
| P14921-2 | c-ETS-1B, Ets-1 p42 | |
| P14921-3 | 3 | |
| P14921-4 | Ets-1 p27, Ets-1Delta(III-VI) | |
| P14921-5 | 5 |
RefSeq proteins (4): NP_001137292, NP_001155894, NP_001317380, NP_005229 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000418 | Ets_dom | Domain |
| IPR003118 | Pointed_dom | Domain |
| IPR013761 | SAM/pointed_sf | Homologous_superfamily |
| IPR016311 | Transform_prot_C-ets | Family |
| IPR036388 | WH-like_DNA-bd_sf | Homologous_superfamily |
| IPR036390 | WH_DNA-bd_sf | Homologous_superfamily |
| IPR041886 | SAM_PNT-ETS-1 | Domain |
| IPR045688 | Ets1_N_flank | Domain |
| IPR046328 | ETS_fam | Family |
Pfam: PF00178, PF02198, PF19525
UniProt features (49 total): modified residue 12, helix 8, strand 6, splice variant 5, region of interest 5, cross-link 4, sequence conflict 4, turn 2, chain 1, domain 1, DNA-binding region 1
Structure
Experimental structures (PDB)
21 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 1GVJ | X-RAY DIFFRACTION | 1.53 |
| 4LG0 | X-RAY DIFFRACTION | 2.19 |
| 4L18 | X-RAY DIFFRACTION | 2.3 |
| 3WTS | X-RAY DIFFRACTION | 2.35 |
| 3WTT | X-RAY DIFFRACTION | 2.35 |
| 3WU1 | X-RAY DIFFRACTION | 2.4 |
| 4L0Y | X-RAY DIFFRACTION | 2.5 |
| 2NNY | X-RAY DIFFRACTION | 2.58 |
| 3WU0 | X-RAY DIFFRACTION | 2.6 |
| 3WTZ | X-RAY DIFFRACTION | 2.61 |
| 3WTU | X-RAY DIFFRACTION | 2.7 |
| 3WTV | X-RAY DIFFRACTION | 2.7 |
| 3WTY | X-RAY DIFFRACTION | 2.7 |
| 4L0Z | X-RAY DIFFRACTION | 2.7 |
| 3WTX | X-RAY DIFFRACTION | 2.8 |
| 3WTW | X-RAY DIFFRACTION | 2.9 |
| 5ZMC | X-RAY DIFFRACTION | 2.99 |
| 3MFK | X-RAY DIFFRACTION | 3 |
| 3RI4 | X-RAY DIFFRACTION | 3 |
| 2STT | SOLUTION NMR | |
| 2STW | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P14921-F1 | 65.95 | 0.32 |
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 (16): 38, 223, 251, 254, 265, 267, 270, 282, 285, 305, 8, 15, 138, 227, 8, 15
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-2559585 | Oncogene Induced Senescence |
| R-HSA-9976102 | Differentiation of naive CD4+ T cells to T helper 2 cells (Th2 cells) |
MSigDB gene sets: 625 (showing top):
PID_BCR_5PATHWAY, GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_UP, GOBP_MYELOID_CELL_DIFFERENTIATION, GOBP_POSITIVE_REGULATION_OF_ERYTHROCYTE_DIFFERENTIATION, GOBP_MYELOID_CELL_HOMEOSTASIS, GOBP_INFLAMMATORY_RESPONSE, TTTGTAG_MIR520D, GOBP_ERYTHROCYTE_HOMEOSTASIS, GOBP_POSITIVE_REGULATION_OF_VASCULATURE_DEVELOPMENT, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, KEGG_DORSO_VENTRAL_AXIS_FORMATION, TURJANSKI_MAPK7_TARGETS, MCBRYAN_PUBERTAL_TGFB1_TARGETS_UP, MCBRYAN_TERMINAL_END_BUD_DN, CAGCTG_AP4_Q5
GO Biological Process (23): regulation of transcription by RNA polymerase II (GO:0006357), transcription by RNA polymerase II (GO:0006366), immune response (GO:0006955), negative regulation of cell population proliferation (GO:0008285), positive regulation of endothelial cell migration (GO:0010595), positive regulation of gene expression (GO:0010628), cell differentiation (GO:0030154), PML body organization (GO:0030578), regulation of apoptotic process (GO:0042981), positive regulation of blood vessel endothelial cell migration (GO:0043536), positive regulation of erythrocyte differentiation (GO:0045648), regulation of angiogenesis (GO:0045765), positive regulation of angiogenesis (GO:0045766), negative regulation of cell cycle (GO:0045786), positive regulation of DNA-templated transcription (GO:0045893), positive regulation of transcription by RNA polymerase II (GO:0045944), response to antibiotic (GO:0046677), cell motility (GO:0048870), positive regulation of inflammatory response (GO:0050729), positive regulation of miRNA transcription (GO:1902895), positive regulation of leukocyte adhesion to vascular endothelial cell (GO:1904996), immune system process (GO:0002376), regulation of DNA-templated transcription (GO:0006355)
GO Molecular Function (13): 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), transcription corepressor binding (GO:0001222), DNA-binding transcription activator activity, RNA polymerase II-specific (GO:0001228), nucleic acid binding (GO:0003676), DNA binding (GO:0003677), DNA-binding transcription factor activity (GO:0003700), identical protein binding (GO:0042802), RNA polymerase II-specific DNA-binding transcription factor binding (GO:0061629), protein binding (GO:0005515), sequence-specific DNA binding (GO:0043565), sequence-specific double-stranded DNA binding (GO:1990837)
GO Cellular Component (4): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Cellular Senescence | 1 |
| Differentiation of T cells | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| regulation of DNA-templated transcription | 3 |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 3 |
| cellular anatomical structure | 3 |
| transcription by RNA polymerase II | 2 |
| DNA-templated transcription | 2 |
| negative regulation of cellular process | 2 |
| angiogenesis | 2 |
| regulation of transcription by RNA polymerase II | 2 |
| positive regulation of DNA-templated transcription | 2 |
| binding | 2 |
| immune system process | 1 |
| response to stimulus | 1 |
| cell population proliferation | 1 |
| regulation of cell population proliferation | 1 |
| regulation of endothelial cell migration | 1 |
| positive regulation of cell migration | 1 |
| endothelial cell migration | 1 |
| gene expression | 1 |
| regulation of gene expression | 1 |
| positive regulation of macromolecule biosynthetic process | 1 |
| cellular developmental process | 1 |
| nuclear body organization | 1 |
| apoptotic process | 1 |
| regulation of programmed cell death | 1 |
| positive regulation of endothelial cell migration | 1 |
| blood vessel endothelial cell migration | 1 |
| regulation of blood vessel endothelial cell migration | 1 |
| erythrocyte differentiation | 1 |
| positive regulation of myeloid cell differentiation | 1 |
| regulation of erythrocyte differentiation | 1 |
| regulation of anatomical structure morphogenesis | 1 |
| regulation of vasculature development | 1 |
| regulation of angiogenesis | 1 |
| positive regulation of vasculature development | 1 |
| cell cycle | 1 |
| regulation of cell cycle | 1 |
| positive regulation of RNA biosynthetic process | 1 |
| response to chemical | 1 |
| cellular process | 1 |
| inflammatory response | 1 |
Protein interactions and networks
STRING
3484 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ETS1 | RUNX1 | Q01196 | 992 |
| ETS1 | PAX5 | Q02548 | 958 |
| ETS1 | TP53 | P04637 | 925 |
| ETS1 | EP300 | Q09472 | 914 |
| ETS1 | GATA3 | P23771 | 902 |
| ETS1 | MAFB | Q9Y5Q3 | 870 |
| ETS1 | TBX21 | Q9UL17 | 862 |
| ETS1 | STAT5B | P51692 | 836 |
| ETS1 | GATA1 | P15976 | 831 |
| ETS1 | MAPK1 | P28482 | 820 |
| ETS1 | CREB1 | P16220 | 815 |
| ETS1 | FOXO1 | Q12778 | 812 |
| ETS1 | CEBPA | P49715 | 802 |
| ETS1 | JUN | P05412 | 762 |
| ETS1 | FOS | P01100 | 733 |
IntAct
108 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SRSF11 | ETS1 | psi-mi:“MI:0915”(physical association) | 0.570 |
| ETS1 | NFKB1 | psi-mi:“MI:0915”(physical association) | 0.540 |
| ETS1 | NFKB1 | psi-mi:“MI:2364”(proximity) | 0.540 |
| MAPK1 | ETS1 | psi-mi:“MI:2364”(proximity) | 0.530 |
| ETS1 | MAPK1 | psi-mi:“MI:0914”(association) | 0.530 |
| ETS1 | MAPK1 | psi-mi:“MI:2364”(proximity) | 0.530 |
| ETS1 | ARID4B | psi-mi:“MI:0915”(physical association) | 0.520 |
| EIF5B | ETS1 | psi-mi:“MI:0915”(physical association) | 0.520 |
| JUN | ETS1 | psi-mi:“MI:0915”(physical association) | 0.520 |
| ETS1 | CYBC1 | psi-mi:“MI:0915”(physical association) | 0.520 |
| CYBC1 | ETS1 | psi-mi:“MI:0915”(physical association) | 0.520 |
| PRKDC | ETS1 | psi-mi:“MI:0407”(direct interaction) | 0.520 |
| ETS1 | SP100 | psi-mi:“MI:0915”(physical association) | 0.510 |
| SP100 | ETS1 | psi-mi:“MI:0915”(physical association) | 0.510 |
| ETS1 | ETS1 | psi-mi:“MI:0915”(physical association) | 0.500 |
| ETS1 | ETS1 | psi-mi:“MI:0914”(association) | 0.500 |
| TAL1 | ETS1 | psi-mi:“MI:0914”(association) | 0.500 |
| ETS1 | TAL1 | psi-mi:“MI:0915”(physical association) | 0.500 |
| TLX1 | ETS1 | psi-mi:“MI:0915”(physical association) | 0.460 |
| TLX3 | ETS1 | psi-mi:“MI:0915”(physical association) | 0.460 |
| ETS1 | TLX1 | psi-mi:“MI:0403”(colocalization) | 0.460 |
| ETS1 | TLX3 | psi-mi:“MI:0403”(colocalization) | 0.460 |
| TLX3 | ETS1 | psi-mi:“MI:0403”(colocalization) | 0.460 |
| ETS1 | AR | psi-mi:“MI:2364”(proximity) | 0.450 |
| ETS1 | AR | psi-mi:“MI:0403”(colocalization) | 0.450 |
| AR | ETS1 | psi-mi:“MI:0403”(colocalization) | 0.450 |
BioGRID (137): ETS1 (Affinity Capture-Western), ETS1 (Affinity Capture-Western), DAXX (Two-hybrid), ETS1 (Affinity Capture-Western), ETS1 (Affinity Capture-MS), ETS1 (Affinity Capture-Western), ZBTB7A (Affinity Capture-Western), TP53 (Affinity Capture-Western), MAPK1 (Co-localization), AR (Co-localization), NFKB1 (Co-localization), SMAD3 (Co-localization), PKM (Affinity Capture-MS), CHI3L2 (Affinity Capture-MS), THUMPD1 (Affinity Capture-MS)
ESM2 similar proteins: A1A4L6, F1QDF8, O35914, O75113, O95238, P01105, P10157, P13474, P14921, P15036, P15037, P15062, P15375, P18755, P18756, P19102, P19335, P27577, P40649, P41156, P78545, Q28EW4, Q28F43, Q32NH9, Q3MHT3, Q3UM89, Q3UPW2, Q3YFL6, Q4G112, Q4V7E1, Q5M7N6, Q5SW75, Q66IG8, Q6IE24, Q6NRK3, Q6PUR7, Q708W1, Q708W2, Q76I76, Q7M6U3
Diamond homologs: A0A1W2PQ73, A0JN51, A1A4L6, A1YF15, A1YG61, A1YG91, A2D4Z7, A2T737, A2T762, A3FEM2, A4GTP4, A8WFJ9, O00321, O01519, O70132, O70273, O95238, P01105, P10157, P11308, P11536, P13474, P14921, P15036, P15037, P15062, P18755, P18756, P19102, P19419, P20105, P26323, P27577, P28322, P28324, P29773, P29774, P29775, P29776, P32519
SIGNOR signaling
35 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| MAPK3 | up-regulates | ETS1 | phosphorylation |
| ETS1 | “up-regulates quantity by expression” | ITGA11 | |
| ETS1 | “up-regulates quantity by expression” | VWF | “transcriptional regulation” |
| ETS1 | “up-regulates quantity by expression” | ABCB1 | “transcriptional regulation” |
| ETS1 | “up-regulates quantity by expression” | CD8A | “transcriptional regulation” |
| ETS1 | “up-regulates quantity by expression” | ECE1 | “transcriptional regulation” |
| ETS1 | “up-regulates quantity by expression” | GP6 | “transcriptional regulation” |
| ETS1 | “up-regulates quantity by expression” | MMP9 | “transcriptional regulation” |
| ETS1 | “up-regulates quantity by expression” | MMP13 | “transcriptional regulation” |
| ETS1 | “up-regulates quantity by expression” | SLC26A3 | “transcriptional regulation” |
| TP53 | “down-regulates activity” | ETS1 | binding |
| ETS1 | “up-regulates quantity by expression” | TBXAS1 | “transcriptional regulation” |
| ETS1 | “up-regulates quantity by expression” | MUC4 | “transcriptional regulation” |
| GFI1 | “down-regulates activity” | ETS1 | binding |
| ETS1 | “down-regulates activity” | GFI1 | binding |
| ETS1 | “down-regulates quantity by repression” | BAX | “transcriptional regulation” |
| ETS1 | “up-regulates quantity” | FOS | “transcriptional regulation” |
| TLX1 | “down-regulates activity” | ETS1 | binding |
| TLX3 | “down-regulates activity” | ETS1 | binding |
| ETS1 | up-regulates | Apoptosis | |
| ETS1 | “up-regulates quantity by expression” | TNC | “transcriptional regulation” |
| ETS1 | “up-regulates quantity by expression” | TBX22 | “transcriptional regulation” |
| GSK3B | “up-regulates quantity by stabilization” | ETS1 | phosphorylation |
| MAF | down-regulates | ETS1 | binding |
| MAPK7 | up-regulates | ETS1 | phosphorylation |
| CAMK2A | down-regulates | ETS1 | phosphorylation |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 73 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.
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| transcription by RNA polymerase II | 7 | 7.7× | 5e-03 |
| negative regulation of cell population proliferation | 9 | 5.9× | 5e-03 |
Disease & clinical
Cancer significance
Clinical variants and AI predictions
ClinVar
48 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 1 |
| Uncertain significance | 29 |
| Likely benign | 3 |
| Benign | 5 |
Top pathogenic / likely-pathogenic (2)
| Variant ID | HGVS | Classification |
|---|---|---|
| 627517 | NM_001143820.2(ETS1):c.1044_1049delinsTT (p.Lys349fs) | Pathogenic |
| 1333667 | NM_001143820.2(ETS1):c.103C>T (p.Arg35Ter) | Likely pathogenic |
SpliceAI
1303 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 11:128462576:CCTGA:C | acceptor_loss | 1.0000 |
| 11:128462577:CTG:C | acceptor_loss | 1.0000 |
| 11:128463503:CCTTA:C | donor_loss | 1.0000 |
| 11:128463504:CTTA:C | donor_loss | 1.0000 |
| 11:128463505:TTAC:T | donor_loss | 1.0000 |
| 11:128463506:TA:T | donor_loss | 1.0000 |
| 11:128463507:A:C | donor_loss | 1.0000 |
| 11:128463624:CTGC:C | acceptor_gain | 1.0000 |
| 11:128463625:TGC:T | acceptor_gain | 1.0000 |
| 11:128463626:GCCTA:G | acceptor_loss | 1.0000 |
| 11:128463627:CCTAG:C | acceptor_loss | 1.0000 |
| 11:128463628:C:CC | acceptor_gain | 1.0000 |
| 11:128463628:CTAG:C | acceptor_loss | 1.0000 |
| 11:128463629:T:C | acceptor_loss | 1.0000 |
| 11:128463711:C:A | donor_gain | 1.0000 |
| 11:128484818:CCT:C | donor_loss | 1.0000 |
| 11:128484819:CTAC:C | donor_loss | 1.0000 |
| 11:128484821:A:AC | donor_gain | 1.0000 |
| 11:128484822:C:CC | donor_gain | 1.0000 |
| 11:128484822:CCA:C | donor_gain | 1.0000 |
| 11:128484867:T:TA | donor_gain | 1.0000 |
| 11:128485067:ATAGC:A | acceptor_gain | 1.0000 |
| 11:128485068:TAGC:T | acceptor_gain | 1.0000 |
| 11:128485069:AGC:A | acceptor_gain | 1.0000 |
| 11:128485070:GC:G | acceptor_gain | 1.0000 |
| 11:128485071:CC:C | acceptor_gain | 1.0000 |
| 11:128485072:C:CC | acceptor_gain | 1.0000 |
| 11:128485073:T:A | acceptor_loss | 1.0000 |
| 11:128485079:C:CT | acceptor_gain | 1.0000 |
| 11:128485080:A:T | acceptor_gain | 1.0000 |
AlphaMissense
3225 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 11:128462399:G:C | H430D | 1.000 |
| 11:128462401:A:G | L429P | 1.000 |
| 11:128462419:C:T | G423E | 1.000 |
| 11:128462420:C:A | G423W | 1.000 |
| 11:128462422:A:G | L422P | 1.000 |
| 11:128462425:A:G | L421P | 1.000 |
| 11:128462434:A:G | L418P | 1.000 |
| 11:128462434:A:T | L418Q | 1.000 |
| 11:128462439:A:C | C416W | 1.000 |
| 11:128462440:C:T | C416Y | 1.000 |
| 11:128462441:A:G | C416R | 1.000 |
| 11:128462445:A:C | F414L | 1.000 |
| 11:128462445:A:T | F414L | 1.000 |
| 11:128462446:A:C | F414C | 1.000 |
| 11:128462446:A:G | F414S | 1.000 |
| 11:128462447:A:C | F414V | 1.000 |
| 11:128462447:A:G | F414L | 1.000 |
| 11:128462447:A:T | F414I | 1.000 |
| 11:128462449:C:G | R413P | 1.000 |
| 11:128462450:G:T | R413S | 1.000 |
| 11:128462452:T:C | Y412C | 1.000 |
| 11:128462453:A:C | Y412D | 1.000 |
| 11:128462453:A:G | Y412H | 1.000 |
| 11:128462453:A:T | Y412N | 1.000 |
| 11:128462455:A:T | V411E | 1.000 |
| 11:128462456:C:T | V411M | 1.000 |
| 11:128462458:T:C | Y410C | 1.000 |
| 11:128462458:T:G | Y410S | 1.000 |
| 11:128462459:A:C | Y410D | 1.000 |
| 11:128462459:A:G | Y410H | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000116887 (11:128536929 A>G), RS1000128482 (11:128578239 T>C), RS1000144563 (11:128533956 A>G), RS1000158303 (11:128574808 T>G), RS1000175669 (11:128473531 C>G,T), RS1000212773 (11:128560412 C>A,G,T), RS1000213054 (11:128569929 T>C,G), RS1000218068 (11:128520625 C>T), RS1000322906 (11:128509462 A>G), RS1000323372 (11:128554302 T>A), RS1000325576 (11:128522424 C>A,G,T), RS1000346614 (11:128529624 G>A), RS1000357516 (11:128463024 T>A), RS1000369810 (11:128469172 C>G), RS1000393621 (11:128566386 C>T)
Disease associations
OMIM: gene MIM:164720 | disease phenotypes: MIM:147791
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| congenital heart disease | Moderate | Autosomal dominant |
| systemic lupus erythematosus | Supportive | Unknown |
| neurodevelopmental disorder | Limited | Autosomal dominant |
| Tourette syndrome | No Known Disease Relationship | Unknown |
ClinGen Gene-Disease Validity (1)
Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.
| Disease | Classification | Inheritance |
|---|---|---|
| congenital heart disease | Moderate | AD |
Mondo (5): Jacobsen syndrome (MONDO:0007838), congenital heart disease (MONDO:0005453), Tourette syndrome (MONDO:0007661), systemic lupus erythematosus (MONDO:0007915), neurodevelopmental disorder (MONDO:0700092)
Orphanet (1): Jacobsen syndrome (Orphanet:2308)
HPO phenotypes
44 total (30 of 44 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000093 | Proteinuria |
| HP:0000155 | Oral ulcer |
| HP:0000488 | Retinopathy |
| HP:0000716 | Depression |
| HP:0000790 | Hematuria |
| HP:0000822 | Hypertension |
| HP:0000992 | Cutaneous photosensitivity |
| HP:0001250 | Seizure |
| HP:0001369 | Arthritis |
| HP:0001596 | Alopecia |
| HP:0001824 | Weight loss |
| HP:0001873 | Thrombocytopenia |
| HP:0001878 | Hemolytic anemia |
| HP:0001882 | Decreased total leukocyte count |
| HP:0001945 | Fever |
| HP:0002039 | Anorexia |
| HP:0002072 | Chorea |
| HP:0002716 | Lymphadenopathy |
| HP:0003453 | Antineutrophil antibody positivity |
| HP:0003493 | Antinuclear antibody positivity |
| HP:0005421 | Decreased circulating complement C3 concentration |
| HP:0005764 | Polyarticular arthritis |
| HP:0007417 | Discoid lupus rash |
| HP:0012085 | Pyuria |
| HP:0012378 | Fatigue |
| HP:0020151 | Anti-dsDNA antibody positivity |
| HP:0025300 | Malar rash |
| HP:0030880 | Raynaud phenomenon |
| HP:0032235 | Anti-La/SS-B antibody positivity |
| HP:0033028 | Anti-U1 ribonucleoprotein antibody positivity |
GWAS associations
107 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000507_5 | Systemic lupus erythematosus | 2.000000e-25 |
| GCST000592_1 | Systemic lupus erythematosus | 2.000000e-11 |
| GCST000612_26 | Celiac disease | 5.000000e-16 |
| GCST001454_10 | Rheumatoid arthritis | 8.000000e-07 |
| GCST001762_171 | Obesity-related traits | 8.000000e-06 |
| GCST001795_26 | Systemic lupus erythematosus | 3.000000e-08 |
| GCST002083_4 | Self-reported allergy | 6.000000e-07 |
| GCST002318_104 | Rheumatoid arthritis | 1.000000e-10 |
| GCST002318_105 | Rheumatoid arthritis | 1.000000e-06 |
| GCST002318_106 | Rheumatoid arthritis | 4.000000e-06 |
| GCST002643_3 | Follicular lymphoma | 7.000000e-11 |
| GCST002874_57 | Psoriasis | 2.000000e-09 |
| GCST002874_58 | Psoriasis | 3.000000e-06 |
| GCST002874_59 | Psoriasis | 3.000000e-06 |
| GCST002874_63 | Psoriasis | 7.000000e-06 |
| GCST002874_65 | Psoriasis | 1.000000e-08 |
| GCST002932_26 | Manganese levels | 2.000000e-06 |
| GCST003090_7 | Depressive and manic episodes in bipolar disorder | 7.000000e-06 |
| GCST003091_6 | Depressive episodes in bipolar disorder | 3.000000e-06 |
| GCST003155_14 | Systemic lupus erythematosus | 1.000000e-10 |
| GCST003156_32 | Systemic lupus erythematosus | 2.000000e-08 |
| GCST003184_16 | Atopic dermatitis | 1.000000e-20 |
| GCST003184_8 | Atopic dermatitis | 2.000000e-18 |
| GCST003268_28 | Psoriasis vulgaris | 1.000000e-07 |
| GCST003599_18 | Systemic lupus erythematosus | 7.000000e-12 |
| GCST003622_38 | Systemic lupus erythematosus | 1.000000e-06 |
| GCST004131_65 | Inflammatory bowel disease | 2.000000e-08 |
| GCST004133_43 | Ulcerative colitis | 6.000000e-06 |
| GCST004603_71 | Platelet count | 6.000000e-18 |
| GCST004607_37 | Plateletcrit | 6.000000e-17 |
EFO canonical traits (24, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007704 | depressive episode measurement |
| EFO:0007705 | manic episode measurement |
| EFO:1001494 | psoriasis vulgaris |
| EFO:0004309 | platelet count |
| EFO:0007985 | platelet crit |
| EFO:0004833 | neutrophil count |
| EFO:0004842 | eosinophil count |
| EFO:0007987 | granulocyte count |
| EFO:0005090 | basophil count |
| EFO:0005091 | monocyte count |
| EFO:0004587 | lymphocyte count |
| EFO:0007993 | lymphocyte percentage of leukocytes |
| EFO:0008377 | mosquito bite reaction itch intensity measurement |
| EFO:0008378 | mosquito bite reaction size measurement |
| EFO:0004695 | intraocular pressure measurement |
| EFO:0005128 | albumin:globulin ratio measurement |
| EFO:0004312 | vital capacity |
| EFO:0009933 | Thyroid preparation use measurement |
| EFO:0009658 | adverse effect |
| EFO:0004847 | age at onset |
| EFO:0004530 | triglyceride measurement |
| EFO:0004531 | urate measurement |
| EFO:0007991 | eosinophil percentage of leukocytes |
| EFO:0007990 | neutrophil percentage of leukocytes |
MeSH disease descriptors (4)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D006330 | Heart Defects, Congenital | C14.240.400; C14.280.400; C16.131.240.400 |
| D008180 | Lupus Erythematosus, Systemic | C17.300.480; C20.111.590 |
| D065886 | Neurodevelopmental Disorders | F03.625 |
| D005879 | Tourette Syndrome | C10.228.140.079.898; C10.228.662.825.800; C10.574.500.850; C16.320.400.820; F03.625.992.850 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
109 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression, decreases methylation | 9 |
| Particulate Matter | affects cotreatment, increases expression, decreases expression, decreases reaction, increases abundance (+1 more) | 4 |
| trichostatin A | affects cotreatment, increases expression | 3 |
| Benzo(a)pyrene | affects methylation, increases expression, increases methylation | 3 |
| Copper | affects binding, affects expression, increases expression | 3 |
| Cyclosporine | decreases expression, increases expression | 3 |
| methylmercuric chloride | increases expression | 2 |
| bisphenol A | decreases expression, decreases methylation | 2 |
| mercuric bromide | increases expression, affects cotreatment | 2 |
| belinostat | increases expression, affects cotreatment | 2 |
| Vorinostat | affects cotreatment, increases expression | 2 |
| Panobinostat | affects cotreatment, increases expression | 2 |
| Estradiol | affects cotreatment, increases expression, decreases expression | 2 |
| Fluorouracil | increases expression, affects reaction, decreases expression | 2 |
| Hydrogen Peroxide | decreases expression, decreases reaction, increases reaction, affects expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| Silicon Dioxide | increases expression | 2 |
| Tobacco Smoke Pollution | decreases methylation, increases expression | 2 |
| Aflatoxin B1 | decreases methylation, increases expression | 2 |
| Cadmium Chloride | increases abundance, increases expression, decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| TAK-243 | increases sumoylation | 1 |
| geldanamycin | increases expression | 1 |
| apocarotenal | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| sodium arsenate | increases abundance, increases expression | 1 |
| beta-lapachone | increases expression | 1 |
| arsenite | affects binding, increases reaction, increases expression, decreases reaction, decreases expression | 1 |
| sodium arsenite | increases expression | 1 |
| benzo(k)fluoranthene | decreases reaction, increases expression | 1 |
Cellosaurus cell lines
10 cell lines: 7 cancer cell line, 3 embryonic stem cell
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_A1M2 | SEES3-1V human ETS1, clone1 | Embryonic stem cell | Male |
| CVCL_A1M3 | SEES3-1V human ETS1, clone2 | Embryonic stem cell | Male |
| CVCL_A1M4 | SEES3-1V human ETS1, clone3 | Embryonic stem cell | Male |
| CVCL_B8FM | Abcam HCT 116 ETS1 KO | Cancer cell line | Male |
| CVCL_B8VH | Abcam MCF-7 ETS1 KO | Cancer cell line | Female |
| CVCL_B9HV | Abcam A-549 ETS1 KO | Cancer cell line | Male |
| CVCL_E1WL | HAP1 ETS1 (-) 1 | Cancer cell line | Male |
| CVCL_E1WM | HAP1 ETS1 (-) 2 | Cancer cell line | Male |
| CVCL_E1WN | HAP1 ETS1 (-) 3 | Cancer cell line | Male |
| CVCL_E1WP | HAP1 ETS1 (-) 4 | Cancer cell line | Male |
Clinical trials (associated diseases)
301 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00668824 | PHASE4 | UNKNOWN | Improved Diagnosis of Congenital Heart Disease by Magnetic Resonance Imaging Using Vasovist |
| NCT01368705 | PHASE4 | COMPLETED | Nitrogen Balance in Infants After Post Cardiothoracic Surgery |
| NCT01619982 | PHASE4 | COMPLETED | Pre-operative Prophylaxis With Vancomycin and Cefazolin in Pediatric Cardiovascular Surgery Patients |
| NCT02122679 | PHASE4 | WITHDRAWN | Tranexamic Acid Effect on Platelet Aggregation Following Infant Cardiopulmonary Bypass |
| NCT02527811 | PHASE4 | UNKNOWN | Ulinastatin Injection in in Pediatric Patients Undergoing Open Heart Surgery |
| NCT03014700 | PHASE4 | COMPLETED | Fibrinogen Concentrate vs Cryoprecipitate |
| NCT03408340 | PHASE4 | TERMINATED | Paravertebral Nerve Blocks in Neonates |
| NCT03630796 | PHASE4 | UNKNOWN | Effect of Sevoflurane in Postoperative Troponin I Levels in Children Undergoing Congenital Heart Defects Surgery |
| NCT03667703 | PHASE4 | COMPLETED | Stress Ulcer Prophylaxis Versus Placebo in Critically Ill Infants With Congenital Heart Disease |
| NCT04453761 | PHASE4 | UNKNOWN | Thiamine Influenced on Substrate Energy Effectiveness in Indonesian Children Undergoing Cardiopulmonary Bypass |
| NCT06668389 | PHASE4 | RECRUITING | Sodium-Glucose Cotransporter 2 Inhibitors for Repaired Tetralogy of Fallot Patients for Enhancement of Cardio-Pulmonary Status Trial |
| NCT07499154 | PHASE4 | NOT_YET_RECRUITING | Perioperative Lidocaine for Lung Protection in Infants Undergoing Cardiac Surgery |
| NCT00000470 | PHASE3 | COMPLETED | Infant Heart Surgery: Central Nervous System Sequelae of Circulatory Arrest |
| NCT00000494 | PHASE3 | COMPLETED | Management of Patent Ductus in Premature Infants |
| NCT01134302 | PHASE3 | UNKNOWN | Hybrid Versus Norwood Management Strategies in Infants Undergoing Single Ventricle Palliation |
| NCT01607983 | PHASE3 | WITHDRAWN | Effects of Pulmonary Vasodilation Upon VA Coupling in Fontan Patients |
| NCT01662011 | PHASE3 | UNKNOWN | Application of Neurally Adjusted Ventilatory Assist to Children After Congenital Cardiac Surgery |
| NCT02320669 | PHASE3 | COMPLETED | Phase 3 Triiodothyronine Supplementation for Infants After Cardiopulmonary Bypass |
| NCT02615262 | PHASE3 | COMPLETED | Intraoperative Dexamethasone in Pediatric Cardiac Surgery |
| NCT03153137 | PHASE3 | COMPLETED | Clinical Study Assessing the Efficacy and Safety of Macitentan in Fontan-palliated Subjects |
| NCT03154476 | PHASE3 | COMPLETED | Role of Sildenafil for Fontan Associated Liver Disease (SiFALD) Study |
| NCT04536194 | PHASE3 | COMPLETED | Dopamine Versus Norepinephrine Under General Anesthesia |
| NCT04702373 | PHASE3 | ACTIVE_NOT_RECRUITING | Training in Exercise Activities and Motion for Growth (TEAM 4 Growth) RCT |
| NCT05049590 | PHASE3 | COMPLETED | Acute Normovolemic Hemodilution in Complex Cardiac Surgery |
| NCT06406517 | PHASE3 | UNKNOWN | Comparative Effectiveness of Gadopiclenol for Evaluation of Adult Congenital Heart Anatomy and Hemodynamics |
| NCT06693674 | PHASE3 | RECRUITING | Effect of Sacubitril-Valsartan on Cardiac Structure and Function |
| NCT06955260 | PHASE3 | NOT_YET_RECRUITING | SGLT2 Inhibition With Empagliflozin in Fontan Circulatory Failure |
| NCT00115375 | PHASE2 | COMPLETED | Platelet Aggregation Inhibition in Children on Clopidogrel (PICOLO) |
| NCT00350220 | PHASE2 | COMPLETED | Transfusion Strategies in Pediatric Cardiothoracic Surgery |
| NCT00374088 | PHASE2 | COMPLETED | N-Acetylcysteine in Neonatal Congenital Heart Surgery (INACT Study) |
| NCT00538785 | PHASE2 | COMPLETED | A Study to Evaluate MEDI-524 In Children With Hemodynamically Significant Congenital Heart Disease |
| NCT00770705 | PHASE2 | WITHDRAWN | Parenteral Phenoxybenzamine During Congenital Heart Disease Surgery |
| NCT00919945 | PHASE2 | TERMINATED | Impact of Early Enteral Feeding on Splanchnic Blood Flow After Surgery for Critical Heart Disease in the Newborn |
| NCT01063712 | PHASE2 | COMPLETED | Safety and Effectiveness of the Device Nit-Occlud® PDA-R |
| NCT01069510 | PHASE2 | COMPLETED | Spironolactone in Adult Congenital Heart Disease |
| NCT01189981 | PHASE2 | COMPLETED | Effect of eHealth Encouragements to Intensive Exercise in Adolescents With Congenital Heart Disease |
| NCT01330433 | PHASE2 | COMPLETED | Effects of CoSeal on Bleeding & Adhesions in Pediatric Heart Surgery |
| NCT01662037 | PHASE2 | COMPLETED | Bosentan Therapy in Children With Functional Single Ventricle |
| NCT01668264 | PHASE2 | UNKNOWN | Imaging Assessment of Diastolic Function |
| NCT01827059 | PHASE2 | UNKNOWN | Bosentan In Exercise Induced Pulmonary Arterial Hypertension in CongenitaL Heart diseasE |
Related Atlas pages
- Associated diseases: congenital heart disease, Tourette syndrome, systemic lupus erythematosus, neurodevelopmental disorder
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): atopic eczema, congenital heart disease, glaucoma, Jacobsen syndrome, neoplasm of mature B-cells, systemic lupus erythematosus