| Primary Identifier | MGI:103270 | Organism | mouse, laboratory |
| Chromosome | 17 | NCBI Gene Number | 21425 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables DNA-binding transcription activator activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and protein heterodimerization activity. Involved in several processes, including defense response to Gram-negative bacterium; embryonic placenta development; and positive regulation of transcription by RNA polymerase II. Acts upstream of or within lysosome organization. Located in cytoplasm. Part of transcription regulator complex. Colocalizes with nucleus. Is expressed in several structures, including cardiovascular system; central nervous system; early conceptus; genitourinary system; and gut gland. Orthologous to human TFEB (transcription factor EB). PHENOTYPE: Homozygotes for a targeted null mutation exhibit severe defects in placental vascularization with few vessels entering the placenta and little branching. Mutants die between embryonic days 9.5 and 10.5. Homozygosity for the p.C270S mutation leads to increased susceptibility to bacterial infection. [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
