| Primary Identifier | MGI:107636 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 20274 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 9.1.0) Predicted to enable voltage-gated sodium channel activity. Involved in circadian rhythm; detection of mechanical stimulus involved in sensory perception; and detection of temperature stimulus involved in sensory perception of pain. Acts upstream of or within several processes, including behavioral response to pain; inflammatory response; and response to toxic substance. Predicted to be located in axon terminus; node of Ranvier; and plasma membrane. Predicted to be part of voltage-gated sodium channel complex. Predicted to be active in axon. Is expressed in several structures, including brain; gut; immune system; male reproductive gland or organ; and respiratory system epithelium. Human ortholog(s) of this gene implicated in erythromelalgia and paroxysmal extreme pain disorder. Orthologous to human SCN9A (sodium voltage-gated channel alpha subunit 9). PHENOTYPE: Mice homozygous for a knock-out allele exhibit prenatal/neonatal lethality. Mice homozygous for a knock-in allele exhibit increased susceptibility to electrically induced seizures. Homozygosity of the p.R185H mutation leads to thermal and mechanical pain hypersensitivity and spontaneous ongoing pain. [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
