| Primary Identifier | MGI:106918 | Organism | mouse, laboratory |
| Chromosome | 12 | NCBI Gene Number | 15251 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables several functions, including DNA-binding transcription activator activity, RNA polymerase II-specific; E-box binding activity; and histone deacetylase binding activity. Involved in several processes, including connective tissue replacement involved in inflammatory response wound healing; negative regulation of ossification; and positive regulation of DNA-templated transcription. Acts upstream of or within several processes, including circulatory system development; epithelial cell differentiation; and negative regulation of apoptotic process. Located in euchromatin; motile cilium; and nuclear speck. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; lung; and sensory organ. Used to study glycogen storage disease V and glycogen storage disease VII. Human ortholog(s) of this gene implicated in carcinoma (multiple); diabetic retinopathy; myocardial infarction; prostate cancer; and type 2 diabetes mellitus. Orthologous to human HIF1A (hypoxia inducible factor 1 subunit alpha). PHENOTYPE: Homozygous null mutants die during embryonic development with severe cardiovascular malformations, neural tube defects, cephalic defects, reduced somite number and increased hypoxia. [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
