SCN11A (sodium voltage-gated channel alpha subunit 11)

2014-11-01  

Identity

HGNC
LOCATION
3p22.2
LOCUSID
ALIAS
FEPS3,HSAN7,NAV1.9,NaN,PN5,SCN12A,SNS-2
FUSION GENES

Other Information

Locus ID:

NCBI: 11280
MIM: 604385
HGNC: 10583
Ensembl: ENSG00000168356

Variants:

dbSNP: 11280
ClinVar: 11280
TCGA: ENSG00000168356
COSMIC: SCN11A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000168356ENST00000302328Q9UI33
ENSG00000168356ENST00000444237Q9UI33
ENSG00000168356ENST00000456224Q9UI33
ENSG00000168356ENST00000668754Q9UI33

Expression (GTEx)

0
1
2
3
4

Pathways

PathwaySourceExternal ID
Muscle contractionREACTOMER-HSA-397014
Developmental BiologyREACTOMER-HSA-1266738
Axon guidanceREACTOMER-HSA-422475
L1CAM interactionsREACTOMER-HSA-373760
Interaction between L1 and AnkyrinsREACTOMER-HSA-445095
Cardiac conductionREACTOMER-HSA-5576891
Phase 0 - rapid depolarisationREACTOMER-HSA-5576892

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
123846892002Neurotrophin-evoked depolarization requires the sodium channel Na(V)1.9.77
240369482013A de novo gain-of-function mutation in SCN11A causes loss of pain perception.77
247769702014Gain-of-function mutations in sodium channel Na(v)1.9 in painful neuropathy.71
242071202013Gain-of-function mutations in SCN11A cause familial episodic pain.47
257918762015The Domain II S4-S5 Linker in Nav1.9: A Missense Mutation Enhances Activation, Impairs Fast Inactivation, and Produces Human Painful Neuropathy.29
218579982011Nav1.9 channel contributes to mechanical and heat pain hypersensitivity induced by subacute and chronic inflammation.26
266459152015Cold-aggravated pain in humans caused by a hyperactive NaV1.9 channel mutant.26
267467792016Congenital insensitivity to pain: Fracturing without apparent skeletal pathobiology caused by an autosomal dominant, second mutation in SCN11A encoding voltage-gated sodium channel 1.9.18
285306382017Sodium channel NaV1.9 mutations associated with insensitivity to pain dampen neuronal excitability.16
272240302016Infantile Pain Episodes Associated with Novel Nav1.9 Mutations in Familial Episodic Pain Syndrome in Japanese Families.10

Citation

Dessen P

SCN11A (sodium voltage-gated channel alpha subunit 11)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/73044/scn11a