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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.
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.
CIViC 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.
In plain words · 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.
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.
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.
No product in this corpus aims at SRSF2 yet. Drugs fit a pocket that exists only in one shape of the mutant protein and hold it there, off.
Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated 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 SRSF2: RNA low tissue specificity; high antibody staining in 30 normal tissues; highest cancer staining melanoma (11 of 11 high). Distribution: 4 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Myeloid neoplasms, Leukaemia, Lymphoma, Skin cancer (all types)); Open Targets associates it with 6 specific cancer types at or above 0.5 (acute myeloid leukemia, myelodysplastic syndrome, chronic myelomonocytic leukemia, myeloproliferative disorder, myeloid leukemia, monocytic leukemia). (Rule 6 of scripts/fetch-target-specificity.ts.)
Sources: UniProt Q01130; CIViC gene SRSF2; IntOGen SRSF2; Human Protein Atlas SRSF2 tissue; Open Targets ENSG00000161547 associations
First described 1992. Earliest sequence paper UniProt cites for the protein: Fu X.-D. et al, Science, 1992, "Isolation of a complementary DNA that encodes the mammalian splicing factor SC35". Source.
Sources: HGNC HGNC:10783 (approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)); UniProt Q01130 (protein name, function text, keywords and locations (REST API)); CIViC gene SRSF2 (4 evidence items, 0 assertions, 3 variants; diseases: Myeloid Neoplasm, Acute Myeloid Leukaemia, Myelodysplastic Syndrome (GraphQL API, CC0)); Open Targets ENSG00000161547 (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)); IntOGen SRSF2 (driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0)
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).
RNA: low tissue specificity, detected in all normal tissues.
Medium: Appendix, Bone marrow, Breast, Caudate, Duodenum, Endometrium, Hippocampus, Liver.
Medium only: carcinoid.
HPA SRSF2 tissue · HPA SRSF2 pathology · HPA protein class: Essential proteins
Human Protein Atlas version 25.1, antibody staining at reliability approved, enhanced or supported; used under CC BY-SA 3.0. Staining counts are patients per level in the atlas cohort, not population prevalence.
Query for this target: (TITLE:"SRSF2" OR ABSTRACT:"SRSF2" OR TITLE:"serine and arginine rich splicing factor 2" OR ABSTRACT:"serine and arginine rich splicing factor 2" OR TITLE:"Serine/arginine-rich splicing factor 2" OR ABSTRACT:"Serine/arginine-rich splicing factor 2" OR TITLE:"SC-35" OR ABSTRACT:"SC-35" OR TITLE:"SC35" OR ABSTRACT:"SC35" OR TITLE:"PR264" OR ABSTRACT:"PR264") AND (cancer OR tumor OR tumour OR oncology OR carcinoma OR lymphoma OR leukemia OR leukaemia OR myeloma OR sarcoma OR melanoma OR glioma). Results are unfiltered search hits about SRSF2, not a curated reading list.
Shares Myeloproliferative neoplasms (PV, ET, myelofibrosis), Leukaemia (all types), Skin cancer (all types), CIViC.
Shares RNA splicing, Myelodysplastic syndromes / neoplasms (MDS), Myeloproliferative neoplasms (PV, ET, myelofibrosis), Leukaemia (all types).
Shares Myelodysplastic syndromes / neoplasms (MDS), Myeloproliferative neoplasms (PV, ET, myelofibrosis), Leukaemia (all types), Skin cancer (all types).
Shares Myelodysplastic syndromes / neoplasms (MDS), Myeloproliferative neoplasms (PV, ET, myelofibrosis), Leukaemia (all types), CIViC.
Shares Myelodysplastic syndromes / neoplasms (MDS), Myeloproliferative neoplasms (PV, ET, myelofibrosis), Leukaemia (all types), CIViC.
Shares RNA splicing, Myelodysplastic syndromes / neoplasms (MDS), Myeloproliferative neoplasms (PV, ET, myelofibrosis), Leukaemia (all types).
Shares Myelodysplastic syndromes / neoplasms (MDS), Myeloproliferative neoplasms (PV, ET, myelofibrosis), Leukaemia (all types), CIViC.
Shares Myelodysplastic syndromes / neoplasms (MDS), Myeloproliferative neoplasms (PV, ET, myelofibrosis), Leukaemia (all types), Acute myeloid leukaemia.