| Primary Identifier | MGI:1309503 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 16536 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables calmodulin binding activity; potassium channel activity; and voltage-gated monoatomic ion channel activity. Acts upstream of or within several processes, including chemical synaptic transmission; learning or memory; and nervous system development. Located in cell surface; main axon; and plasma membrane. Part of voltage-gated potassium channel complex. Is expressed in several structures, including brain; gut; immune system; reproductive system; and white fat. Used to study benign neonatal seizures and developmental and epileptic encephalopathy 7. Human ortholog(s) of this gene implicated in benign neonatal seizures and developmental and epileptic encephalopathy 7. Orthologous to human KCNQ2 (potassium voltage-gated channel subfamily Q member 2). PHENOTYPE: Mice homozygous for a null mutation die perinatally with pulmonary atelectasis. Heterozygous mice exhibit a hypersensitivity to the epileptic inducer pentylenetetrazole. Mice homozygous for a knock-in allele exhibit spontaneous seizures and premature death. [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
