| Primary Identifier | MGI:1917723 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 56508 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables several functions, including cAMP binding activity; guanyl-nucleotide exchange factor activity; and small GTPase binding activity. Involved in positive regulation of insulin secretion and regulation of synaptic vesicle cycle. Acts upstream of or within with a positive effect on hormone secretion. Acts upstream of or within adenylate cyclase-activating G protein-coupled receptor signaling pathway; regulation of exocytosis; and secretion by cell. Is active in cytosol and hippocampal mossy fiber to CA3 synapse. Is expressed in several structures, including adrenal gland; ganglia; heart; lung; and metanephros. Human ortholog(s) of this gene implicated in autistic disorder. Orthologous to human RAPGEF4 (Rap guanine nucleotide exchange factor 4). PHENOTYPE: Mice homozygous for a null allele exhibit decreased insulin granule fusion in pancreatic islet cells during the first phase of cAMP-dependent insulin granule exocytosis. Mice homozygous for a knock-out allele exhibit impaired isoproterenol-induced SR calcium leak and arrhythmia. [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
