{"entity":{"id":"ube2a","kind":"target","name":"UBE2A","aka":["ubiquitin conjugating enzyme E2 A","Ubiquitin-conjugating enzyme E2 A","UBC2","HHR6A","RAD6A","HR6A"],"tldr":"UBE2A (Ubiquitin-conjugating enzyme E2 A) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, a biomarker and a DNA repair gene, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Diffuse large B-cell lymphoma.","summary":"E2 ubiquitin-conjugating enzyme that accepts ubiquitin from the ubiquitin-activating enzyme E1 and transfers it to a E3 ubiquitin-protein ligase. In vitro catalyses 'Lys-11', as well as 'Lys-48'-linked polyubiquitination. Together with the E3 enzyme BRE1 (RNF20 and/or RNF40), plays a role in transcription regulation by catalysing the monoubiquitination of histone H2B at 'Lys-120' to form H2BK120ub1.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant. IntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Diffuse Large B-Cell Lymphoma, NOS.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:12472","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12472"},{"label":"UniProt P49459","url":"https://www.uniprot.org/uniprotkb/P49459/entry"},{"label":"NCBI Gene 7319","url":"https://www.ncbi.nlm.nih.gov/gene/7319"},{"label":"Ensembl ENSG00000077721","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000077721"}],"tags":["cancer-genes-wave"],"related":["civic","intogen"],"cancers":["dlbcl"],"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: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort; CIViC holds 1 clinical evidence items on its variants; UniProt keyword \"DNA repair\". 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":"UBE2A","role":["tumour-suppressor","biomarker","dna-repair"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:12472","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12472","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P49459","url":"https://www.uniprot.org/uniprotkb/P49459/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene UBE2A","url":"https://civicdb.org/features/5988","note":"1 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"},{"label":"IntOGen UBE2A","url":"https://www.intogen.org/search?gene=UBE2A","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"one-type","specificityNote":"Tumour-specific alteration: the catalogues call it a tumour suppressor (IntOGen finds it knocked out more often than chance); 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 UBE2A: RNA low tissue specificity; no normal tissue stained high. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Lymphoma); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P49459","url":"https://www.uniprot.org/uniprotkb/P49459/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene UBE2A","url":"https://civicdb.org/features/5988","note":"1 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"},{"label":"IntOGen UBE2A","url":"https://www.intogen.org/search?gene=UBE2A","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas UBE2A tissue","url":"https://www.proteinatlas.org/ENSG00000077721-UBE2A/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000077721 associations","url":"https://platform.opentargets.org/target/ENSG00000077721/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:12472","ensembl":"ENSG00000077721","uniprot":"P49459","entrez":"7319","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Koken M.H.M. et al, Proc. Natl. Acad. Sci. U.S.A, 1991, \"Structural and functional conservation of two human homologs of the yeast DNA repair gene RAD6\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1717990/","biology":"E2 ubiquitin-conjugating enzyme that accepts ubiquitin from the ubiquitin-activating enzyme E1 and transfers it to a E3 ubiquitin-protein ligase. In vitro catalyses 'Lys-11', as well as 'Lys-48'-linked polyubiquitination. Together with the E3 enzyme BRE1 (RNF20 and/or RNF40), plays a role in transcription regulation by catalysing the monoubiquitination of histone H2B at 'Lys-120' to form H2BK120ub1. H2BK120ub1 gives a specific tag for epigenetic transcriptional activation, elongation by RNA polymerase II, telomeric silencing, and is also a prerequisite for H3K4me and H3K79me formation. Involved in mitophagy by acting as a E2 ubiquitin-conjugating enzyme for PRKN. In association with the E3 enzyme UBR4, is involved in N-end rule-dependent protein degradation. Location: Late endosome; Lysosome (UniProt). Locus Xq24 (HGNC).","whereFound":["Diffuse large B-cell lymphoma: CIViC evidence names this disease; IntOGen driver in 1 cohort (DLBCLNOS)"],"targetClass":"tumor-suppressor","prevalence":[]},"route":"/targets/ube2a/","neighbours":{"collection":[{"id":"civic","kind":"collection","name":"CIViC","route":"/collections/civic/"},{"id":"intogen","kind":"collection","name":"IntOGen","route":"/collections/intogen/"}],"cancer":[{"id":"dlbcl","kind":"cancer","name":"Diffuse large B-cell lymphoma","route":"/cancers/dlbcl/"}]}}