Gene: SCN11A

Alternate names for this Gene: FEPS3|HSAN7|NAV1.9|NaN|PN5|SCN12A|SNS-2

Gene Summary: Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family, and is highly expressed in nociceptive neurons of dorsal root ganglia and trigeminal ganglia. It mediates brain-derived neurotrophic factor-evoked membrane depolarization and is a major effector of peripheral inflammatory pain hypersensitivity. Mutations in this gene have been associated with hereditary sensory and autonomic neuropathy type VII and familial episodic pain syndrome-3. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 3

Location in Chromosome : 3p22.2

Description of this Gene: sodium voltage-gated channel alpha subunit 11

Type of Gene: protein-coding

rs1230622899 in SCN11A gene and EPISODIC PAIN SYNDROME, FAMILIAL, 3 PMID 24776970 2014 Gain-of-function mutations in sodium channel Na(v)1.9 in painful neuropathy.

PMID 24207120 2013 Gain-of-function mutations in SCN11A cause familial episodic pain.

PMID 27224030 2016 Infantile Pain Episodes Associated with Novel Nav1.9 Mutations in Familial Episodic Pain Syndrome in Japanese Families.

PMID 25791876 2015 The Domain II S4-S5 Linker in Nav1.9: A Missense Mutation Enhances Activation, Impairs Fast Inactivation, and Produces Human Painful Neuropathy.

rs883565 in SCN11A gene and Handedness PMID 24065183 2014 Genome-wide association study of handedness excludes simple genetic models.

rs1085307142 in SCN11A gene and NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII PMID 28289907 2017 Pain insensitivity: distal S6-segment mutations in NaV1.9 emerge as critical hotspot.

PMID 26746779 2016 Congenital insensitivity to pain: Fracturing without apparent skeletal pathobiology caused by an autosomal dominant, second mutation in SCN11A encoding voltage-gated sodium channel 1.9.

PMID 25118027 2015 The phenotype of congenital insensitivity to pain due to the NaV1.9 variant p.L811P.

PMID 24036948 2013 A de novo gain-of-function mutation in SCN11A causes loss of pain perception.

PMID 26645915 2015 Cold-aggravated pain in humans caused by a hyperactive NaV1.9 channel mutant.