| Primary Identifier | MGI:1347062 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 26427 |
| 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; cAMP response element binding activity; and chromatin binding activity. Involved in several processes, including extracellular matrix constituent secretion; intracellular signal transduction; and negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway. Acts upstream of or within regulation of ossification. Located in endoplasmic reticulum. Is active in nucleus. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; lung; and skeleton. Human ortholog(s) of this gene implicated in osteogenesis imperfecta type 16. Orthologous to human CREB3L1 (cAMP responsive element binding protein 3 like 1). PHENOTYPE: Mice homozygous for a knock-out allele exhibit postnatal growth retardation, fragile skeleton, and decreased bone density, cortical and trabecular thickness, and osteoblast maturation. [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
