| Primary Identifier | MGI:88192 | Organism | mouse, laboratory |
| Chromosome | 9 | NCBI Gene Number | 20586 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 9.1.0) Enables several functions, including ATP hydrolysis activity; DNA polymerase binding activity; and lncRNA binding activity. Involved in several processes, including positive regulation of Wnt signaling pathway; positive regulation of cold-induced thermogenesis; and regulation of gene expression. Acts upstream of or within with a negative effect on gene expression. Acts upstream of or within several processes, including blastocyst development; circulatory system development; and nervous system development. Located in euchromatin and perichromatin fibrils. Part of SWI/SNF complex; nBAF complex; and npBAF complex. Is active in nucleus. Is expressed in several structures, including alimentary system; central nervous system; egg cylinder; genitourinary system; and sensory organ. Used to study breast cancer. Human ortholog(s) of this gene implicated in Coffin-Siris syndrome 4; hepatocellular carcinoma; lung non-small cell carcinoma; and rhabdoid tumor predisposition syndrome 2. Orthologous to human SMARCA4 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4). PHENOTYPE: Homozygotes for a null allele die in utero before implantation. Embryos heterozygous for this null allele and an ENU-induced allele show impaired definitive erythropoiesis, anemia and lethality during organogenesis. Heterozygotes for a different null allele show cyanosis and cardiovascular defects. [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
