Genes encoding proteins that are core components of U1 and U2 snRNPs of the spliceosome, and their mutation status in human malignancies
| Gene (symbol, full official name, and chromosomal location) . | Encoded protein . | Human malignancies in which somatic mutations have been detected . |
|---|---|---|
| SRSF2 (serine/arginine-rich splicing factor 2; 17q25.1) | The encoded protein is a member of the serine/arginine (SR)–rich family of pre-mRNA splicing factors. Each of these factors contains an RNA recognition motif (RRM) for binding RNA and an RS domain for binding other proteins. SRSF2 enhances the splicing process both at 5′ and 3′ and is also involved in mRNA export from the nucleus and in translation. | Myeloid neoplasms with a particular enrichment in chronic myelomonocytic leukemia |
| SF1 (splicing factor 1; 11q13) | The encoded protein specifically recognizes the intron branch point sequence and is required for the early stages of spliceosome assembly. | Myeloid neoplasms |
| SF3B1 (splicing factor 3b, subunit 1, 155kDa; 2q33.1) | The encoded protein is subunit 1 of the splicing factor 3b protein complex. Splicing factor 3b, together with splicing factor 3a and a 12S RNA unit, forms the U2 snRNP. The splicing factor 3b/3a complex binds pre-mRNA upstream of the intron's branch site in a sequence-independent manner and may anchor the U2 snRNP to the pre-mRNA. | Myeloid neoplasms with a specific enrichment in conditions characterized by ring sideroblasts Chronic lymphocytic leukemia Various tumors |
| SF3A1 (splicing factor 3a, subunit 1, 120kDa; 22q12.2) | The encoded protein is subunit 1 of the splicing factor 3a protein complex. | Myeloid neoplasms |
| U2AF1 (U2 small nuclear RNA auxiliary factor 1; 21q22.3) | The encoded protein is the small subunit of U2 auxiliary factor, which is a non-snRNP protein required for the binding of U2 snRNP to the pre-mRNA branch site. The small subunit plays a critical role in both constitutive and enhancer-dependent RNA splicing by directly mediating interactions between the large subunit and proteins bound to the enhancers. | Myeloid neoplasms |
| U2AF2 (U2 small nuclear RNA auxiliary factor 2; 19q13.42) | The encoded protein is the large subunit of U2 auxiliary factor (U2AF), which is a non-snRNP protein required for the binding of U2 snRNP to the pre-mRNA branch site. The U2AF large subunit contains a sequence-specific RNA-binding region with 3 RNA recognition motifs and an arginine/serine-rich domain necessary for splicing. | Myeloid neoplasms |
| ZRSR2 (zinc finger CCCH type, RNA-binding motif and serine/arginine rich 2; Xp22.1) | The encoded protein is an essential splicing factor that associates with the U2 auxiliary factor heterodimer. This latter is required for the recognition of a functional 3′ splice site in pre-mRNA splicing. | Myeloid neoplasms |
| PRPF40B (PRP40 pre-mRNA processing factor 40 homolog B, S cerevisiae) | The encoded protein may serve in early spliceosome assembly. | Myeloid neoplasms |
| Gene (symbol, full official name, and chromosomal location) . | Encoded protein . | Human malignancies in which somatic mutations have been detected . |
|---|---|---|
| SRSF2 (serine/arginine-rich splicing factor 2; 17q25.1) | The encoded protein is a member of the serine/arginine (SR)–rich family of pre-mRNA splicing factors. Each of these factors contains an RNA recognition motif (RRM) for binding RNA and an RS domain for binding other proteins. SRSF2 enhances the splicing process both at 5′ and 3′ and is also involved in mRNA export from the nucleus and in translation. | Myeloid neoplasms with a particular enrichment in chronic myelomonocytic leukemia |
| SF1 (splicing factor 1; 11q13) | The encoded protein specifically recognizes the intron branch point sequence and is required for the early stages of spliceosome assembly. | Myeloid neoplasms |
| SF3B1 (splicing factor 3b, subunit 1, 155kDa; 2q33.1) | The encoded protein is subunit 1 of the splicing factor 3b protein complex. Splicing factor 3b, together with splicing factor 3a and a 12S RNA unit, forms the U2 snRNP. The splicing factor 3b/3a complex binds pre-mRNA upstream of the intron's branch site in a sequence-independent manner and may anchor the U2 snRNP to the pre-mRNA. | Myeloid neoplasms with a specific enrichment in conditions characterized by ring sideroblasts Chronic lymphocytic leukemia Various tumors |
| SF3A1 (splicing factor 3a, subunit 1, 120kDa; 22q12.2) | The encoded protein is subunit 1 of the splicing factor 3a protein complex. | Myeloid neoplasms |
| U2AF1 (U2 small nuclear RNA auxiliary factor 1; 21q22.3) | The encoded protein is the small subunit of U2 auxiliary factor, which is a non-snRNP protein required for the binding of U2 snRNP to the pre-mRNA branch site. The small subunit plays a critical role in both constitutive and enhancer-dependent RNA splicing by directly mediating interactions between the large subunit and proteins bound to the enhancers. | Myeloid neoplasms |
| U2AF2 (U2 small nuclear RNA auxiliary factor 2; 19q13.42) | The encoded protein is the large subunit of U2 auxiliary factor (U2AF), which is a non-snRNP protein required for the binding of U2 snRNP to the pre-mRNA branch site. The U2AF large subunit contains a sequence-specific RNA-binding region with 3 RNA recognition motifs and an arginine/serine-rich domain necessary for splicing. | Myeloid neoplasms |
| ZRSR2 (zinc finger CCCH type, RNA-binding motif and serine/arginine rich 2; Xp22.1) | The encoded protein is an essential splicing factor that associates with the U2 auxiliary factor heterodimer. This latter is required for the recognition of a functional 3′ splice site in pre-mRNA splicing. | Myeloid neoplasms |
| PRPF40B (PRP40 pre-mRNA processing factor 40 homolog B, S cerevisiae) | The encoded protein may serve in early spliceosome assembly. | Myeloid neoplasms |
Information on genes and their encoded proteins is from http://www.ncbi.nlm.nih.gov/gene.