Gene
sf3b2
- ID
- ZDB-GENE-070928-1
- Name
- splicing factor 3b, subunit 2
- Symbol
- sf3b2 Nomenclature History
- Previous Names
-
- fb53c07
- wu:fb53c07
- wu:fb93b08
- zgc:136773
- Type
- protein_coding_gene
- Location
- Chr: 7 Mapping Details/Browsers
- Description
- Predicted to be involved in mRNA splicing, via spliceosome. Predicted to be located in nucleus. Predicted to be part of U2 snRNP and spliceosomal complex. Is expressed in several structures, including mesenchyme; mesoderm; neural plate; neural rod; and tail bud. Human ortholog(s) of this gene implicated in Goldenhar syndrome. Orthologous to human SF3B2 (splicing factor 3b subunit 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 12 figures from Rauch et al., 2003
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Goldenhar syndrome | Alliance | Craniofacial microsomia | 164210 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Domain of unknown function DUF382 | Pre-mRNA Spliceosomal U2 snRNP Complex Component | PSP, proline-rich | SAP domain |
|---|---|---|---|---|---|---|
| UniProtKB:A7YT51 | InterPro | 825 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available