{"entity":{"id":"zrsr2","kind":"target","name":"ZRSR2","aka":["zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2","U2 small nuclear ribonucleoprotein auxiliary factor 35 kDa subunit-related protein 2","U2AF1-RS2","ZC3H22","U2AF1L2"],"tldr":"ZRSR2 (U2 small nuclear ribonucleoprotein auxiliary factor 35 kDa subunit-related protein 2) 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 Myeloproliferative neoplasms, Leukaemia, Skin cancer and 2 more.","summary":"Pre-mRNA-binding protein required for splicing of both U2- and U12-type introns. Selectively interacts with the 3'-splice site of U2- and U12-type pre-mRNAs and promotes different steps in U2 and U12 intron splicing. Recruited to U12 pre-mRNAs in an ATP-dependent manner and is required for assembly of the pre-spliceosome, a precursor to other spliceosomal complexes.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant. Open Targets scores its association with cancer at 0.63 (direct and indirect evidence; datatypes literature 0.42, genetic association 0.00, somatic mutation 0.82). IntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Acute Myeloid Leukaemia.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:23019","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23019"},{"label":"UniProt Q15696","url":"https://www.uniprot.org/uniprotkb/Q15696/entry"},{"label":"NCBI Gene 8233","url":"https://www.ncbi.nlm.nih.gov/gene/8233"},{"label":"Ensembl ENSG00000169249","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000169249"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["myeloproliferative-neoplasms","leukaemia","skin-cancer","non-hodgkin-lymphoma","aml"],"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":"ZRSR2","role":["tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:23019","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23019","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q15696","url":"https://www.uniprot.org/uniprotkb/Q15696/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene ZRSR2","url":"https://civicdb.org/features/6534","note":"1 evidence items, 0 assertions, 1 variants; diseases: Acute Myeloid Leukaemia (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000169249","url":"https://platform.opentargets.org/target/ENSG00000169249/associations","note":"association with cancer (MONDO_0004992) 0.63; per-cancer scores at or above 0.5: non-Hodgkin lymphoma 0.51, skin cancer 0.52, myeloproliferative neoplasm 0.59, leukaemia 0.57 (GraphQL API, CC0)"},{"label":"IntOGen ZRSR2","url":"https://www.intogen.org/search?gene=ZRSR2","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"hgnc":"HGNC:23019","ensembl":"ENSG00000169249","uniprot":"Q15696","entrez":"8233","biology":"Pre-mRNA-binding protein required for splicing of both U2- and U12-type introns. Selectively interacts with the 3'-splice site of U2- and U12-type pre-mRNAs and promotes different steps in U2 and U12 intron splicing. Recruited to U12 pre-mRNAs in an ATP-dependent manner and is required for assembly of the pre-spliceosome, a precursor to other spliceosomal complexes. For U2-type introns, it is selectively and specifically required for the second step of splicing. Location: Nucleus (UniProt). Locus Xp22.2 (HGNC).","whereFound":["Myeloproliferative neoplasms: Open Targets association 0.59 with myeloproliferative neoplasm (MONDO_0020076)","Leukaemia: Open Targets association 0.57 with leukaemia (MONDO_0005059)","Skin cancer: Open Targets association 0.52 with skin cancer (MONDO_0002898)","Non-Hodgkin lymphoma: Open Targets association 0.51 with non-Hodgkin lymphoma (MONDO_0018908)","Acute myeloid leukaemia: CIViC evidence names this disease; IntOGen driver in 1 cohort (AML)"],"targetClass":"tumor-suppressor","prevalence":[]},"route":"/targets/zrsr2/","neighbours":{"collection":[{"id":"civic","kind":"collection","name":"CIViC","route":"/collections/civic/"},{"id":"intogen","kind":"collection","name":"IntOGen","route":"/collections/intogen/"},{"id":"open-targets","kind":"collection","name":"Open Targets Platform","route":"/collections/open-targets/"}],"cancer":[{"id":"aml","kind":"cancer","name":"Acute myeloid leukaemia","route":"/cancers/aml/"},{"id":"leukaemia","kind":"cancer","name":"Leukaemia (all types)","route":"/cancers/leukaemia/"},{"id":"myeloproliferative-neoplasms","kind":"cancer","name":"Myeloproliferative neoplasms (PV, ET, myelofibrosis)","route":"/cancers/myeloproliferative-neoplasms/"},{"id":"non-hodgkin-lymphoma","kind":"cancer","name":"Non-Hodgkin lymphoma (all types)","route":"/cancers/non-hodgkin-lymphoma/"},{"id":"skin-cancer","kind":"cancer","name":"Skin cancer (all types)","route":"/cancers/skin-cancer/"}]}}