| Primary Identifier | MGI:109580 | Organism | mouse, laboratory |
| Chromosome | 3 | NCBI Gene Number | 107701 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.3.0) Predicted to enable RNA binding activity and splicing factor binding activity. Acts upstream of or within positive regulation of mRNA splicing, via spliceosome. Predicted to be located in nucleus. Predicted to be part of U12-type spliceosomal complex; U2 snRNP; and U2-type precatalytic spliceosome. Is expressed in several structures, including central nervous system; embryo mesenchyme; heart; sensory organ; and skeletal musculature. Human ortholog(s) of this gene implicated in Nager acrofacial dysostosis; cervical cancer; and hepatocellular carcinoma. Orthologous to human SF3B4 (splicing factor 3b subunit 4). PHENOTYPE: Mice homozygous for a null allele die prior to implantation. Mice heterozygous for the allele exhibit flat heads, posterior vertebral transformations, and reduced cell proliferation in the forebrain. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
