{"entity":{"id":"sp140","kind":"target","name":"SP140","aka":["SP140 nuclear body protein","Nuclear body protein SP140","LYSP100-B","LYSP100-A"],"tldr":"SP140 (Nuclear body protein SP140) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Multiple myeloma and Mantle cell lymphoma.","summary":"Component of the nuclear body, also known as nuclear domain 10, PML oncogenic domain, and KR body. May be involved in the pathogenesis of acute promyelocytic leukaemia and viral infection. May play a role in chromatin-mediated regulation of gene expression although it does not bind to histone H3 tails.\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 Plasma Cell Myeloma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:17133","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17133"},{"label":"UniProt Q13342","url":"https://www.uniprot.org/uniprotkb/Q13342/entry"},{"label":"NCBI Gene 11262","url":"https://www.ncbi.nlm.nih.gov/gene/11262"},{"label":"Ensembl ENSG00000079263","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000079263"}],"tags":["cancer-genes-wave"],"related":["civic","intogen"],"cancers":["multiple-myeloma","mantle-cell-lymphoma"],"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. 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":"SP140","role":["tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:17133","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17133","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q13342","url":"https://www.uniprot.org/uniprotkb/Q13342/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene SP140","url":"https://civicdb.org/features/8996","note":"1 evidence items, 0 assertions, 1 variants; diseases: Mantle Cell Lymphoma (GraphQL API, CC0)"},{"label":"IntOGen SP140","url":"https://www.intogen.org/search?gene=SP140","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"few-types","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 SP140: RNA group enriched (intestine 15 nTPM, lymphoid tissue 52 nTPM); high antibody staining in 2 normal tissues. Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Multiple myeloma, 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 Q13342","url":"https://www.uniprot.org/uniprotkb/Q13342/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene SP140","url":"https://civicdb.org/features/8996","note":"1 evidence items, 0 assertions, 1 variants; diseases: Mantle Cell Lymphoma (GraphQL API, CC0)"},{"label":"IntOGen SP140","url":"https://www.intogen.org/search?gene=SP140","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas SP140 tissue","url":"https://www.proteinatlas.org/ENSG00000079263-SP140/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000079263 associations","url":"https://platform.opentargets.org/target/ENSG00000079263/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:17133","ensembl":"ENSG00000079263","uniprot":"Q13342","entrez":"11262","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Dent A.L. et al, Blood, 1996, \"LYSP100-associated nuclear domains (LANDs): description of a new class of subnuclear structures and their relationship to PML nuclear bodies\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8695863/","biology":"Component of the nuclear body, also known as nuclear domain 10, PML oncogenic domain, and KR body. May be involved in the pathogenesis of acute promyelocytic leukaemia and viral infection. May play a role in chromatin-mediated regulation of gene expression although it does not bind to histone H3 tails. Location: Nucleus; Nucleus, PML body; Cytoplasm (UniProt). Locus 2q37.1 (HGNC).","whereFound":["Multiple myeloma: IntOGen driver in 1 cohort (PCM)","Mantle cell lymphoma: CIViC evidence names this disease"],"targetClass":"tumor-suppressor","prevalence":[]},"route":"/targets/sp140/","neighbours":{"collection":[{"id":"civic","kind":"collection","name":"CIViC","route":"/collections/civic/"},{"id":"intogen","kind":"collection","name":"IntOGen","route":"/collections/intogen/"}],"cancer":[{"id":"mantle-cell-lymphoma","kind":"cancer","name":"Mantle cell lymphoma","route":"/cancers/mantle-cell-lymphoma/"},{"id":"multiple-myeloma","kind":"cancer","name":"Multiple myeloma","route":"/cancers/multiple-myeloma/"}]}}