| Primary Identifier | MGI:109169 | Organism | mouse, laboratory |
| Chromosome | 17 | NCBI Gene Number | 13819 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) 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 mRNA transcription by RNA polymerase II; myoblast fate commitment; and positive regulation of cold-induced thermogenesis. Acts upstream of or within several processes, including multicellular organismal-level iron ion homeostasis; norepinephrine metabolic process; and surfactant homeostasis. Located in cytoplasm and nuclear speck. Part of transcription regulator complex. Is expressed in several structures, including alimentary system; cardiovascular system; genitourinary system; nervous system; and respiratory system. Used to study newborn respiratory distress syndrome. Human ortholog(s) of this gene implicated in familial erythrocytosis 4; lung non-small cell carcinoma; polycythemia; and pulmonary hypertension. Orthologous to human EPAS1 (endothelial PAS domain protein 1). PHENOTYPE: Mice homozygous for null mutations display prenatal, neonatal or postnatal lethality. For some alleles lethality is associated with vascular abnormalities. Temporally restricted overexpression in intestinal epithelium leads to increased susceptibility to DSS-induced colitis morbidity. [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
