SF3B3
splicing factor 3b subunit 3
Summary
This gene encodes subunit 3 of the splicing factor 3b protein complex. Splicing factor 3b, together with splicing factor 3a and a 12S RNA unit, forms the U2 small nuclear ribonucleoproteins complex (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. Splicing factor 3b is also a component of the minor U12-type spliceosome. Subunit 3 has also been identified as a component of the STAGA (SPT3-TAF(II)31-GCN5L acetylase) transcription coactivator-HAT (histone acetyltransferase) complex, and the TFTC (TATA-binding-protein-free TAF(II)-containing complex). These complexes may function in chromatin modification, transcription, splicing, and DNA repair. [provided by RefSeq, Jul 2008]
Known Variants31 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2507582560 | 16:70,563,061 | A/G | — | uncertain significance |
| rs547329462 | 16:70,565,043 | G/A | — | — |
| rs200284442 | 16:70,566,392 | A/G | — | uncertain significance |
| rs772955167 | 16:70,566,422 | C/T | — | uncertain significance |
| rs2507593059 | 16:70,569,264 | A/G | — | uncertain significance |
| rs894947400 | 16:70,569,265 | T/A | — | uncertain significance |
| rs556978344 | 16:70,570,587 | G/T | — | — |
| rs757275745 | 16:70,573,046 | G/A | — | uncertain significance |
| rs2507603034 | 16:70,575,603 | G/T | — | uncertain significance |
| rs778558010 | 16:70,582,330 | C/T | — | uncertain significance |
| rs374390756 | 16:70,582,333 | C/T | — | uncertain significance |
| rs777342483 | 16:70,582,340 | T/C | — | uncertain significance |
| rs940922629 | 16:70,587,724 | T/C | — | — |
| rs193921118 | 16:70,588,447 | G/T | — | uncertain significance |
| rs142032952 | 16:70,590,160 | C/G | — | uncertain significance |
| rs1303778752 | 16:70,590,894 | G/A | — | uncertain significance |
| rs2507628001 | 16:70,594,491 | G/C | — | uncertain significance |
| rs2507629650 | 16:70,595,552 | G/A | — | uncertain significance |
| rs769216542 | 16:70,597,878 | C/A | — | uncertain significance |
| rs747251269 | 16:70,597,895 | C/T | — | uncertain significance |
| rs753754875 | 16:70,597,912 | A/C | — | uncertain significance |
| rs2507634154 | 16:70,599,046 | C/A | — | uncertain significance |
| rs779969129 | 16:70,601,347 | C/T | — | uncertain significance |
| rs1567426059 | 16:70,602,189 | A/G | — | uncertain significance |
| rs200662374 | 16:70,602,280 | G/A | — | uncertain significance |
| rs2507639165 | 16:70,602,355 | A/G | — | uncertain significance |
| rs146926615 | 16:70,602,955 | C/T | — | uncertain significance |
| rs761760684 | 16:70,603,028 | A/G | — | uncertain significance |
| rs114509338 | 16:70,608,636 | T/A | — | — |
| rs79714557 | 16:70,609,997 | A/C | — | — |
| rs565093883 | 16:70,610,687 | A/C | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.