| Primary Identifier | MGI:1354953 | Organism | mouse, laboratory |
| Chromosome | 5 | NCBI Gene Number | 50791 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables SMAD binding activity and type II activin receptor binding activity. Involved in several processes, including SMAD protein signal transduction; neuroligin clustering involved in postsynaptic membrane assembly; and positive regulation of synaptic vesicle clustering. Acts upstream of or within signal transduction. Located in several cellular components, including centriole; ciliary base; and photoreceptor inner segment. Is expressed in several structures, including branchial arch; genitourinary system; limb; nervous system; and vibrissa. Human ortholog(s) of this gene implicated in nephrotic syndrome type 15. Orthologous to human MAGI2 (membrane associated guanylate kinase, WW and PDZ domain containing 2). PHENOTYPE: Homozygotes for a null allele show neonatal death and hippocampal neurons with altered dendritic spine morphology. Homozygotes for a different null allele die neonatally due to anuria and podocyte anomalies. Mice lacking all three isoforms develop proteinuria, podocytopathy and die of renal failure. [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
