| Primary Identifier | MGI:88256 | Organism | mouse, laboratory |
| Chromosome | 18 | NCBI Gene Number | 12322 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Enables calmodulin binding activity; glutamate receptor binding activity; and protein serine/threonine kinase activity. Involved in regulation of endocannabinoid signaling pathway and regulation of synaptic vesicle docking. Acts upstream of or within several processes, including G1/S transition of mitotic cell cycle; modulation of chemical synaptic transmission; and positive regulation of cardiac muscle cell apoptotic process. Located in mitochondrion and postsynaptic density. Is active in Schaffer collateral - CA1 synapse. Is expressed in several structures, including alimentary system; early embryo; eye; genitourinary system; and nervous system. Used to study autism spectrum disorder and bipolar disorder. Human ortholog(s) of this gene implicated in autosomal dominant intellectual developmental disorder 53 and autosomal recessive intellectual developmental disorder 63. Orthologous to human CAMK2A (calcium/calmodulin dependent protein kinase II alpha). PHENOTYPE: Homozygous targeted mutants display deficient long-term hippocampal potentiation (LTP) and specific impairment in spatial learning; heterozygotes show decreased fear response and increased defensive aggression, which is more pronounced in homozygotes. [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
