{"entity":{"id":"gata2","kind":"target","name":"GATA2","aka":["GATA binding protein 2","Endothelial transcription factor GATA-2","NFE1B"],"tldr":"GATA2 (Endothelial transcription factor GATA-2) is a protein that switches other genes on and off. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Leukaemia, Myeloproliferative neoplasms, Myelodysplastic syndromes / neoplasms and 5 more.","summary":"Transcriptional activator which regulates endothelin-1 gene expression in endothelial cells. Binds to the consensus sequence 5'-AGATAG-3'.\n\nCIViC holds 2 clinical evidence items and 0 assertions across 2 variants, naming Bortezomib and Fasudil. Open Targets scores its association with cancer at 0.84 (direct and indirect evidence; datatypes genetic literature 0.89, literature 0.98, genetic association 0.82, somatic mutation 0.95, animal model 0.57). IntOGen calls it a driver in 5 cohorts (3 activating, 1 loss-of-function), covering Acute Myeloid Leukaemia, Head and Neck Squamous Cell Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:4171","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4171"},{"label":"UniProt P23769","url":"https://www.uniprot.org/uniprotkb/P23769/entry"},{"label":"NCBI Gene 2624","url":"https://www.ncbi.nlm.nih.gov/gene/2624"},{"label":"Ensembl ENSG00000179348","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000179348"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["leukaemia","myeloproliferative-neoplasms","mds","prostate","head-and-neck","skin-cancer","lung-cancer","aml"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 2 therapies; IntOGen calls it an activating (Act) driver in 3 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 1 cohort; CIViC holds 2 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"GATA2","role":["drug-target","oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:4171","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4171","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P23769","url":"https://www.uniprot.org/uniprotkb/P23769/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene GATA2","url":"https://civicdb.org/features/25","note":"2 evidence items, 0 assertions, 2 variants; diseases: Acute Myeloid Leukaemia, Lung Adenocarcinoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000179348","url":"https://platform.opentargets.org/target/ENSG00000179348/associations","note":"association with cancer (MONDO_0004992) 0.84; per-cancer scores at or above 0.5: prostate cancer 0.57, acute myeloid leukaemia 0.76, skin cancer 0.54, myelodysplastic syndrome 0.77, myeloproliferative neoplasm 0.80, lung cancer 0.53 (GraphQL API, CC0)"},{"label":"IntOGen GATA2","url":"https://www.intogen.org/search?gene=GATA2","note":"driver in 5 cohorts (Act 3, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA GATA2: RNA low tissue specificity; blood lineage lineage enriched (granulocytes 567 nTPM); high antibody staining in 6 normal tissues; highest cancer staining testis cancer (5 of 11 high). Distribution: 6 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Leukaemia, Myeloid neoplasms, Prostate cancer, Head and neck squamous cell carcinoma, Skin cancer (all types), Lung cancer (all types)); Open Targets associates it with 4 specific cancer types at or above 0.5 (myelodysplastic syndrome, acute myeloid leukemia, leukemia, acute myeloid, susceptibility to, prostate carcinoma). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P23769","url":"https://www.uniprot.org/uniprotkb/P23769/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene GATA2","url":"https://civicdb.org/features/25","note":"2 evidence items, 0 assertions, 2 variants; diseases: Acute Myeloid Leukaemia, Lung Adenocarcinoma (GraphQL API, CC0)"},{"label":"IntOGen GATA2","url":"https://www.intogen.org/search?gene=GATA2","note":"driver in 5 cohorts (Act 3, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas GATA2 tissue","url":"https://www.proteinatlas.org/ENSG00000179348-GATA2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000179348 associations","url":"https://platform.opentargets.org/target/ENSG00000179348/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:4171","ensembl":"ENSG00000179348","uniprot":"P23769","entrez":"2624","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Lee M.-E. et al, J. Biol. Chem, 1991, \"Cloning of the GATA-binding protein that regulates endothelin-1 gene expression in endothelial cells\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1714909/","biology":"Transcriptional activator which regulates endothelin-1 gene expression in endothelial cells. Binds to the consensus sequence 5'-AGATAG-3'. Location: Nucleus (UniProt). Locus 3q21.3 (HGNC).","whereFound":["Leukaemia: Open Targets association 0.80 with leukaemia (MONDO_0005059)","Myeloproliferative neoplasms: Open Targets association 0.80 with myeloproliferative neoplasm (MONDO_0020076)","Myelodysplastic syndromes / neoplasms: Open Targets association 0.77 with myelodysplastic syndrome (MONDO_0018881)","Prostate cancer: Open Targets association 0.57 with prostate cancer (MONDO_0008315)","Head and neck squamous cell carcinoma: IntOGen driver in 1 cohort (HNSC)","Skin cancer: Open Targets association 0.54 with skin cancer (MONDO_0002898)"],"targetClass":"transcription","prevalence":[]},"route":"/targets/gata2/","neighbours":{"collection":[{"id":"civic","kind":"collection","name":"CIViC","route":"/collections/civic/"},{"id":"intogen","kind":"collection","name":"IntOGen","route":"/collections/intogen/"},{"id":"open-targets","kind":"collection","name":"Open Targets Platform","route":"/collections/open-targets/"}],"cancer":[{"id":"aml","kind":"cancer","name":"Acute myeloid leukaemia","route":"/cancers/aml/"},{"id":"head-and-neck","kind":"cancer","name":"Head and neck squamous cell carcinoma","route":"/cancers/head-and-neck/"},{"id":"leukaemia","kind":"cancer","name":"Leukaemia (all types)","route":"/cancers/leukaemia/"},{"id":"lung-cancer","kind":"cancer","name":"Lung cancer (all types)","route":"/cancers/lung-cancer/"},{"id":"mds","kind":"cancer","name":"Myelodysplastic syndromes / neoplasms (MDS)","route":"/cancers/mds/"},{"id":"myeloproliferative-neoplasms","kind":"cancer","name":"Myeloproliferative neoplasms (PV, ET, myelofibrosis)","route":"/cancers/myeloproliferative-neoplasms/"},{"id":"prostate","kind":"cancer","name":"Prostate cancer","route":"/cancers/prostate/"},{"id":"skin-cancer","kind":"cancer","name":"Skin cancer (all types)","route":"/cancers/skin-cancer/"}]}}