| Primary Identifier | MGI:1330281 | Organism | mouse, laboratory |
| Chromosome | 17 | NCBI Gene Number | 12488 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables actin filament binding activity; clathrin binding activity; and phosphatidylinositol 3-kinase regulatory subunit binding activity. Involved in synapse organization. Acts upstream of or within several processes, including cell surface receptor signaling pathway; intracellular signaling cassette; and plasma membrane bounded cell projection organization. Located in several cellular components, including axon; cell-cell junction; and dendrite. Part of protein-containing complex. Is active in several cellular components, including actin cytoskeleton; nuclear envelope lumen; and slit diaphragm. Is expressed in several structures, including alimentary system; blastocyst; early embryo; genitourinary system; and lung. Used to study end stage renal disease and focal segmental glomerulosclerosis 3. Human ortholog(s) of this gene implicated in focal segmental glomerulosclerosis and focal segmental glomerulosclerosis 3. Orthologous to human CD2AP (CD2 associated protein). PHENOTYPE: Homozygotes for a targeted null mutation exhibit impaired immune function and die at 6 to 7 weeks of age from kidney failure associated with podocyte defects and mesangial cell hyperplasia. Heterozygotes develop glomerular changes around 9 months. [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
