{"entity":{"id":"bach2","kind":"target","name":"BACH2","aka":["BACH transcriptional regulator 2","Transcription regulator protein BACH2","BTBD25"],"tldr":"BACH2 (Transcription regulator protein BACH2) is a protein that switches other genes on and off. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Skin cancer and Basal cell carcinoma.","summary":"Transcriptional regulator that acts as a repressor or activator. Binds to Maf recognition elements (MARE). Plays an important role in coordinating transcription activation and repression by MAFK.\n\nCIViC holds 2 clinical evidence items and 0 assertions across 2 variants. Open Targets scores its association with cancer at 0.58 (direct and indirect evidence; datatypes literature 0.86, animal model 0.49, genetic association 0.72).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:14078","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14078"},{"label":"UniProt Q9BYV9","url":"https://www.uniprot.org/uniprotkb/Q9BYV9/entry"},{"label":"NCBI Gene 60468","url":"https://www.ncbi.nlm.nih.gov/gene/60468"},{"label":"Ensembl ENSG00000112182","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000112182"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets"],"cancers":["skin-cancer","basal-cell-carcinoma"],"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 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":"BACH2","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:14078","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14078","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9BYV9","url":"https://www.uniprot.org/uniprotkb/Q9BYV9/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene BACH2","url":"https://civicdb.org/features/14160","note":"2 evidence items, 0 assertions, 2 variants; diseases:  (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000112182","url":"https://platform.opentargets.org/target/ENSG00000112182/associations","note":"association with cancer (MONDO_0004992) 0.58; per-cancer scores at or above 0.5: skin cancer 0.55, basal cell carcinoma 0.53 (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role biomarker; HPA finds the RNA group enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA BACH2: RNA group enriched (bone marrow 7 nTPM, lymphoid tissue 16 nTPM); high antibody staining in 3 normal tissues; highest cancer staining lymphoma (3 of 12 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Skin cancer (all types)); Open Targets associates it with 2 specific cancer types at or above 0.5 (skin cancer, basal cell carcinoma); the corpus evidence decides and the Open Targets list is quoted for comparison. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas BACH2 tissue","url":"https://www.proteinatlas.org/ENSG00000112182-BACH2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000112182 associations","url":"https://platform.opentargets.org/target/ENSG00000112182/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:14078","ensembl":"ENSG00000112182","uniprot":"Q9BYV9","entrez":"60468","firstDescribed":2000,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Sasaki et al, Oncogene, 2000, \"Cloning and expression of human B cell-specific transcription factor BACH2 mapped to chromosome 6q15\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10949928/","biology":"Transcriptional regulator that acts as a repressor or activator. Binds to Maf recognition elements (MARE). Plays an important role in coordinating transcription activation and repression by MAFK. Induces apoptosis in response to oxidative stress through repression of the antiapoptotic factor HMOX1. Positively regulates the nuclear import of actin. Is a key regulator of adaptive immunity, crucial for the maintenance of regulatory T-cell function and B-cell maturation. Location: Cytoplasm; Nucleus (UniProt). Locus 6q15 (HGNC).","whereFound":["Skin cancer: Open Targets association 0.55 with skin cancer (MONDO_0002898)","Basal cell carcinoma: Open Targets association 0.53 with basal cell carcinoma (MONDO_0020804)"],"targetClass":"transcription","prevalence":[]},"route":"/targets/bach2/","neighbours":{"collection":[{"id":"civic","kind":"collection","name":"CIViC","route":"/collections/civic/"},{"id":"open-targets","kind":"collection","name":"Open Targets Platform","route":"/collections/open-targets/"}],"cancer":[{"id":"basal-cell-carcinoma","kind":"cancer","name":"Basal cell carcinoma","route":"/cancers/basal-cell-carcinoma/"},{"id":"skin-cancer","kind":"cancer","name":"Skin cancer (all types)","route":"/cancers/skin-cancer/"}]}}