SCN9A (sodium voltage-gated channel alpha subunit 9)

2007-02-01  

Identity

HGNC
LOCATION
2q24.3
LOCUSID
ALIAS
ETHA,FEB3B,GEFSP7,HSAN2D,NE-NA,NENA,Nav1.7,PN1,SFNP

Other Information

Locus ID:

NCBI: 6335
MIM: 603415
HGNC: 10597
Ensembl: ENSG00000169432

Variants:

dbSNP: 6335
ClinVar: 6335
TCGA: ENSG00000169432
COSMIC: SCN9A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000169432ENST00000303354Q15858
ENSG00000169432ENST00000409435Q15858
ENSG00000169432ENST00000409672Q15858
ENSG00000169432ENST00000452182H7C064
ENSG00000169432ENST00000454569A0A0C4DG82
ENSG00000169432ENST00000642356Q15858
ENSG00000169432ENST00000643319A0A2R8YCX9
ENSG00000169432ENST00000644316A0A2R8YDP4
ENSG00000169432ENST00000645283A0A2R8Y7G0
ENSG00000169432ENST00000645907Q15858
ENSG00000169432ENST00000667201A0A590UJB2
ENSG00000169432ENST00000667991A0A590UK23

Expression (GTEx)

0
1
2
3
4
5
6
7
8
9

Pathways

PathwaySourceExternal ID
Taste transductionKEGGko04742
Taste transductionKEGGhsa04742
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
171674792006An SCN9A channelopathy causes congenital inability to experience pain.369
171674792006An SCN9A channelopathy causes congenital inability to experience pain.369
149853752004Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia.175
232326072013The Na(V)1.7 sodium channel: from molecule to man.156
216986612012Gain of function Naν1.7 mutations in idiopathic small fiber neuropathy.119
153856062004Electrophysiological properties of mutant Nav1.7 sodium channels in a painful inherited neuropathy.98
174701322007Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations.96
180600172007Mutations in sodium-channel gene SCN9A cause a spectrum of human genetic pain disorders.85
202121372010Pain perception is altered by a nucleotide polymorphism in SCN9A.85
202121372010Pain perception is altered by a nucleotide polymorphism in SCN9A.85

Citation

Dessen P

SCN9A (sodium voltage-gated channel alpha subunit 9)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/43758/scn9a