| Primary Identifier | MGI:103572 | Organism | mouse, laboratory |
| Chromosome | 14 | NCBI Gene Number | 110794 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable DNA-binding transcription activator activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and identical protein binding activity. Acts upstream of or within macrophage differentiation; phagocytosis; and positive regulation of gene expression. Predicted to be located in nucleoplasm and plasma membrane. Predicted to be part of RNA polymerase II transcription regulator complex. Is expressed in bone marrow; liver; lung; and spleen. Human ortholog(s) of this gene implicated in primary immunodeficiency disease. Orthologous to human CEBPE (CCAAT enhancer binding protein epsilon). PHENOTYPE: Homozygous mutation of this gene results in impaired neutrophil and eosinophil development and myelodysplasia. Mutant animals are susceptible to secondary bacterial infections such as conjuntivitis, rhinitis, and pneumonia, and become moribund between 2-5 months of age. [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
