{"entity":{"id":"srsf2","kind":"target","name":"SRSF2","aka":["serine and arginine rich splicing factor 2","Serine/arginine-rich splicing factor 2","SC-35","SC35","PR264","SFRS2A","SFRS2"],"tldr":"SRSF2 (Serine/arginine-rich splicing factor 2) is a gene that drives cell growth when it is altered. The public catalogues list it as a drug target, an oncogene driver and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Myeloproliferative neoplasms, Leukaemia, Myelodysplastic syndromes / neoplasms and 3 more.","summary":"Necessary for the splicing of pre-mRNA. It is required for formation of the earliest ATP-dependent splicing complex and interacts with spliceosomal components bound to both the 5'- and 3'-splice sites during spliceosome assembly. It also is required for ATP-dependent interactions of both U1 and U2 snRNPs with pre-mRNA.\n\nCIViC holds 4 clinical evidence items and 0 assertions across 3 variants, naming CTX-712. Open Targets scores its association with cancer at 0.83 (direct and indirect evidence; datatypes literature 0.97, affected pathway 0.61, genetic association 0.79, somatic mutation 0.90). IntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Acute Myeloid Leukaemia.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:10783","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10783"},{"label":"UniProt Q01130","url":"https://www.uniprot.org/uniprotkb/Q01130/entry"},{"label":"NCBI Gene 6427","url":"https://www.ncbi.nlm.nih.gov/gene/6427"},{"label":"Ensembl ENSG00000161547","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000161547"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["myeloproliferative-neoplasms","leukaemia","mds","non-hodgkin-lymphoma","skin-cancer","aml"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["rna-splicing"],"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 lists 1 therapies; IntOGen calls it an activating (Act) driver in 1 cohort; CIViC holds 4 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: Myeloid Neoplasm."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SRSF2","role":["drug-target","oncogene-driver","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:10783","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10783","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q01130","url":"https://www.uniprot.org/uniprotkb/Q01130/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene SRSF2","url":"https://civicdb.org/features/5210","note":"4 evidence items, 0 assertions, 3 variants; diseases: Myeloid Neoplasm, Acute Myeloid Leukaemia, Myelodysplastic Syndrome (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000161547","url":"https://platform.opentargets.org/target/ENSG00000161547/associations","note":"association with cancer (MONDO_0004992) 0.83; per-cancer scores at or above 0.5: acute myeloid leukaemia 0.79, non-Hodgkin lymphoma 0.51, skin cancer 0.50, myelodysplastic syndrome 0.68, myeloproliferative neoplasm 0.83, leukaemia 0.83 (GraphQL API, CC0)"},{"label":"IntOGen SRSF2","url":"https://www.intogen.org/search?gene=SRSF2","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"hgnc":"HGNC:10783","ensembl":"ENSG00000161547","uniprot":"Q01130","entrez":"6427","biology":"Necessary for the splicing of pre-mRNA. It is required for formation of the earliest ATP-dependent splicing complex and interacts with spliceosomal components bound to both the 5'- and 3'-splice sites during spliceosome assembly. It also is required for ATP-dependent interactions of both U1 and U2 snRNPs with pre-mRNA. Interacts with other spliceosomal components, via the RS domains, to form a bridge between the 5'- and 3'-splice site binding components, U1 snRNP and U2AF. Binds to purine-rich RNA sequences, either 5'-AGSAGAGTA-3' (S=C or G) or 5'-GTTCGAGTA-3'. Can bind to beta-globin mRNA and commit it to the splicing pathway. Location: Nucleus; Nucleus, nucleoplasm; Nucleus speckle (UniProt). Locus 17q25.2 (HGNC).","whereFound":["Myeloproliferative neoplasms: Open Targets association 0.83 with myeloproliferative neoplasm (MONDO_0020076)","Leukaemia: Open Targets association 0.83 with leukaemia (MONDO_0005059)","Myelodysplastic syndromes / neoplasms: Open Targets association 0.68 with myelodysplastic syndrome (MONDO_0018881); CIViC evidence names this disease","Non-Hodgkin lymphoma: Open Targets association 0.51 with non-Hodgkin lymphoma (MONDO_0018908)","Skin cancer: Open Targets association 0.50 with skin cancer (MONDO_0002898)","Acute myeloid leukaemia: Open Targets association 0.79 with acute myeloid leukaemia (MONDO_0018874); CIViC evidence names this disease"],"targetClass":"oncogene","prevalence":[]},"route":"/targets/srsf2/","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":"mds","kind":"cancer","name":"Myelodysplastic syndromes / neoplasms (MDS)","route":"/cancers/mds/"},{"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/"}],"pathway":[{"id":"rna-splicing","kind":"pathway","name":"RNA splicing","route":"/pathways/rna-splicing/"}]}}