| 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 8.0.0) 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. Used to study schizophrenia. 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
