| Primary Identifier | MGI:1927139 | Organism | mouse, laboratory |
| Chromosome | 3 | NCBI Gene Number | 64051 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables protein kinase binding activity. Involved in synaptic vesicle priming. Acts upstream of or within intracellular calcium ion homeostasis. Located in cell-cell junction; neuromuscular junction; and synaptic vesicle. Is active in several cellular components, including GABA-ergic synapse; glutamatergic synapse; and presynaptic active zone. Is expressed in several structures, including alimentary system; cardiovascular system; genitourinary system; nervous system; and sensory organ. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy. Orthologous to human SV2A (synaptic vesicle glycoprotein 2A). PHENOTYPE: Homozygotes for targeted null mutations exhibit seizures, retarded growth, and reduced hippocampal (GABA)ergic neurotransmission. Many mutants die shortly after birth, and all are dead by three weeks of age. [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
