{"entity":{"id":"aph1b","kind":"target","name":"APH1B","aka":["aph-1B gamma-secretase subunit","Gamma-secretase subunit APH-1B","APH-1B","DKFZp564D0372"],"tldr":"APH1B (Gamma-secretase subunit APH-1B) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Desmoid tumour.","summary":"Probable subunit of the gamma-secretase complex, an endoprotease complex that catalyses the intramembrane cleavage of integral proteins such as Notch receptors and APP (amyloid-beta precursor protein). It probably represents a stabilising cofactor for the presenilin homodimer that promotes the formation of a stable complex. Probably present in a minority of gamma-secretase complexes compared to APH1A.\n\n","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:24080","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:24080"},{"label":"UniProt Q8WW43","url":"https://www.uniprot.org/uniprotkb/Q8WW43/entry"},{"label":"NCBI Gene 83464","url":"https://www.ncbi.nlm.nih.gov/gene/83464"},{"label":"Ensembl ENSG00000138613","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000138613"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["desmoid-tumour"],"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: Open Targets known-drug datatype score 0.83. Evidence tier \"approved-drug\" 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":"APH1B","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:24080","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:24080","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q8WW43","url":"https://www.uniprot.org/uniprotkb/Q8WW43/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000138613","url":"https://platform.opentargets.org/target/ENSG00000138613/associations","note":"per-cancer scores at or above 0.5: desmoid tumour 0.50 (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 drug-target; HPA finds the RNA tissue enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA APH1B: RNA tissue enriched (testis 111 nTPM); no normal tissue stained high. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Sarcomas (soft tissue, bone, GIST)); Open Targets associates it with 1 specific cancer type at or above 0.5 (desmoid tumor). (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas APH1B tissue","url":"https://www.proteinatlas.org/ENSG00000138613-APH1B/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000138613 associations","url":"https://platform.opentargets.org/target/ENSG00000138613/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:24080","ensembl":"ENSG00000138613","uniprot":"Q8WW43","entrez":"83464","firstDescribed":2001,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Wiemann et al, Genome Res, 2001, \"Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/11230166/","biology":"Probable subunit of the gamma-secretase complex, an endoprotease complex that catalyses the intramembrane cleavage of integral proteins such as Notch receptors and APP (amyloid-beta precursor protein). It probably represents a stabilising cofactor for the presenilin homodimer that promotes the formation of a stable complex. Probably present in a minority of gamma-secretase complexes compared to APH1A. Location: Membrane (UniProt). Locus 15q22.2 (HGNC).","whereFound":["Desmoid tumour: Open Targets association 0.50 with desmoid tumour (MONDO_0007608)"],"targetClass":"other","prevalence":[]},"route":"/targets/aph1b/","neighbours":{"collection":[{"id":"open-targets","kind":"collection","name":"Open Targets Platform","route":"/collections/open-targets/"}],"cancer":[{"id":"desmoid-tumour","kind":"cancer","name":"Desmoid tumour","route":"/cancers/desmoid-tumour/"}]}}