| Primary Identifier | MGI:107571 | Organism | mouse, laboratory |
| Chromosome | 6 | NCBI Gene Number | 12390 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables several functions, including protein heterodimerization activity; protein kinase binding activity; and scaffold protein binding activity. Acts upstream of or within several processes, including negative regulation of transforming growth factor beta receptor signaling pathway; regulation of endothelial cell proliferation; and skeletal muscle fiber development. Located in acrosomal membrane and caveola. Part of caveolar macromolecular signaling complex. Colocalizes with focal adhesion. Is expressed in bronchiole epithelium; embryo; and lung. Human ortholog(s) of this gene implicated in low tension glaucoma and primary open angle glaucoma. Orthologous to human CAV2 (caveolin 2). PHENOTYPE: Mice homozygous for a null allele show lung parenchyma hypercellularity, alveolar constriction and septal thickening, impaired exercise endurance, and skeletal muscle defects. Mice homozygous for a different null allele show reduced tumor vascularization and growth of subcutaneously implanted tumors. [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
