| Primary Identifier | MGI:109336 | Organism | mouse, laboratory |
| Chromosome | 6 | NCBI Gene Number | 14011 |
| 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 and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in positive regulation of transcription by RNA polymerase II. Acts upstream of or within several processes, including mesenchymal cell apoptotic process; regulation of DNA-templated transcription; and vitellogenesis. Predicted to be located in cytosol and nucleolus. Predicted to be active in nucleus. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; hemolymphoid system; and sensory organ. Used to study breast cancer. Human ortholog(s) of this gene implicated in hematologic cancer (multiple) and thrombocytopenia. Orthologous to human ETV6 (ETS variant transcription factor 6). PHENOTYPE: Homozygotes for a targeted null mutation exhibit defective yolk sac angiogenesis, excess apoptosis of mesenchymal and neural cells, and midgestational lethality. Heterozygosity for the p.R355* mutation affects hematopoietic stem and precursor cell (HSPC) function and slows blood clotting. [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
