{"entity":{"id":"nipbl","kind":"target","name":"NIPBL","aka":["NIPBL cohesin loading factor","Nipped-B-like protein","IDN3","DKFZp434L1319","FLJ11203","FLJ12597","FLJ13354","FLJ13648","Scc2"],"tldr":"NIPBL (Nipped-B-like protein) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Non-small-cell lung cancer.","summary":"Plays an important role in the loading of the cohesin complex on to DNA. Forms a heterodimeric complex (also known as cohesin loading complex) with MAU2/SCC4 which mediates the loading of the cohesin complex onto chromatin. Plays a role in cohesin loading at sites of DNA damage.\n\nIntOGen calls it a driver in 2 cohorts (0 activating, 2 loss-of-function), covering Low-Grade Glioma, NOS, Non-Small Cell Lung Cancer.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:28862","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:28862"},{"label":"UniProt Q6KC79","url":"https://www.uniprot.org/uniprotkb/Q6KC79/entry"},{"label":"NCBI Gene 25836","url":"https://www.ncbi.nlm.nih.gov/gene/25836"},{"label":"Ensembl ENSG00000164190","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000164190"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["nsclc"],"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 2 cohorts. Evidence tier \"cohort-driver\" 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: Low-Grade Glioma, NOS."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"NIPBL","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:28862","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:28862","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q6KC79","url":"https://www.uniprot.org/uniprotkb/Q6KC79/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen NIPBL","url":"https://www.intogen.org/search?gene=NIPBL","note":"driver in 2 cohorts (Act 0, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"hgnc":"HGNC:28862","ensembl":"ENSG00000164190","uniprot":"Q6KC79","entrez":"25836","biology":"Plays an important role in the loading of the cohesin complex on to DNA. Forms a heterodimeric complex (also known as cohesin loading complex) with MAU2/SCC4 which mediates the loading of the cohesin complex onto chromatin. Plays a role in cohesin loading at sites of DNA damage. Its recruitment to double-strand breaks (DSBs) sites occurs in a CBX3-, RNF8- and RNF168-dependent manner whereas its recruitment to UV irradiation-induced DNA damage sites occurs in a ATM-, ATR-, RNF8- and RNF168-dependent manner. Along with ZNF609, promotes cortical neuron migration during brain development by regulating the transcription of crucial genes in this process. Preferentially binds promoters containing paused RNA polymerase II. Location: Nucleus; Chromosome (UniProt). Locus 5p13.2 (HGNC).","whereFound":["Non-small-cell lung cancer: IntOGen driver in 1 cohort (NSCLC)"],"targetClass":"tumor-suppressor","prevalence":[]},"route":"/targets/nipbl/","neighbours":{"collection":[{"id":"intogen","kind":"collection","name":"IntOGen","route":"/collections/intogen/"}],"cancer":[{"id":"nsclc","kind":"cancer","name":"Non-small-cell lung cancer","route":"/cancers/nsclc/"}]}}