SF3B2 Chromosome 11
Splicing factor 3b subunit 2
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What This Gene Does
This gene encodes subunit 2 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 2 associates with pre-mRNA upstream of the branch site at the anchoring site. Subunit 2 also interacts directly with subunit 4 of the splicing factor 3b complex. Subunit 2 is a highly hydrophilic protein with a proline-rich N-terminus and a glutamate-rich stretch in the C-terminus. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Armadillo like helical domain containing|SF3b complex"
Locus Type
gene with protein product
Location
11q13.1
Ensembl
ENSG00000087365
Associated Conditions (1)
Craniofacial microsomia 1
Key Variants
RS2134479545
Pathogenic
Craniofacial microsomia 1, Craniofacial microsomia 1
Health Risk
RS2135031513
Pathogenic
Craniofacial microsomia 1, Craniofacial microsomia 1
Health Risk
RS2135050433
Pathogenic
Craniofacial microsomia 1, Craniofacial microsomia 1
Health Risk
RS2135051009
Pathogenic
Craniofacial microsomia 1, Craniofacial microsomia 1
Health Risk
RS2496000368
Pathogenic
Craniofacial microsomia 1, Craniofacial microsomia 1
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2134479545 | Health Risk | Pathogenic | Craniofacial microsomia 1, Craniofacial microsomia 1 |
| RS2135031513 | Health Risk | Pathogenic | Craniofacial microsomia 1, Craniofacial microsomia 1 |
| RS2135050433 | Health Risk | Pathogenic | Craniofacial microsomia 1, Craniofacial microsomia 1 |
| RS2135051009 | Health Risk | Pathogenic | Craniofacial microsomia 1, Craniofacial microsomia 1 |
| RS2496000368 | Health Risk | Pathogenic | Craniofacial microsomia 1, Craniofacial microsomia 1 |