{"entity":{"id":"hbb","kind":"target","name":"HBB","aka":["hemoglobin subunit beta","Hemoglobin subunit beta","CD113t-C","beta-globin"],"tldr":"HBB (Haemoglobin subunit beta) is a gene. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response.","summary":"Involved in oxygen transport from the lung to the various peripheral tissues. LVV-haemorphin-7 potentiates the activity of bradykinin, causing a decrease in blood pressure. Functions as an endogenous inhibitor of enkephalin-degrading enzymes such as DPP3, and as a selective antagonist of the P2RX3 receptor which is involved in pain signalling, these properties implicate it as a regulator of pain and inflammation.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:4827","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4827"},{"label":"UniProt P68871","url":"https://www.uniprot.org/uniprotkb/P68871/entry"},{"label":"NCBI Gene 3043","url":"https://www.ncbi.nlm.nih.gov/gene/3043"},{"label":"Ensembl ENSG00000244734","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000244734"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":[],"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 1 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.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: SMARCB1-deficient Renal Medullary Carcinoma."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"HBB","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:4827","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4827","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P68871","url":"https://www.uniprot.org/uniprotkb/P68871/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene HBB","url":"https://civicdb.org/features/2556","note":"1 evidence items, 0 assertions, 1 variants; diseases: SMARCB1-deficient Renal Medullary Carcinoma (GraphQL API, CC0)"}],"distribution":"not-established","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role biomarker; HPA finds the RNA tissue enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA HBB: RNA tissue enriched (bone marrow 125,481 nTPM); blood lineage group enriched (dendritic cells 381 nTPM, granulocytes 662 nTPM); no normal tissue stained high; highest cancer staining carcinoid (1 of 3 high). Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas HBB tissue","url":"https://www.proteinatlas.org/ENSG00000244734-HBB/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000244734 associations","url":"https://platform.opentargets.org/target/ENSG00000244734/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:4827","ensembl":"ENSG00000244734","uniprot":"P68871","entrez":"3043","firstDescribed":1957,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ingram V.M., Nature, 1957, \"Gene mutations in human haemoglobin: the chemical difference between normal and sickle cell haemoglobin\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/13464827/","biology":"Involved in oxygen transport from the lung to the various peripheral tissues. LVV-haemorphin-7 potentiates the activity of bradykinin, causing a decrease in blood pressure. Functions as an endogenous inhibitor of enkephalin-degrading enzymes such as DPP3, and as a selective antagonist of the P2RX3 receptor which is involved in pain signalling, these properties implicate it as a regulator of pain and inflammation. Locus 11p15.4 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},"route":"/targets/hbb/","neighbours":{"collection":[{"id":"civic","kind":"collection","name":"CIViC","route":"/collections/civic/"}]}}