full name
sodium voltage-gated channel alpha subunit 9
synonyms
ETHA, FEB3B, GEFSP7, Nav1.7, NE-NA, NENA, PN1, SFNP, SCN9A, ENSG00000169432
HGNC
HGNC:10597
Entrez Gene
Gene:6335
ENSEMBL
ENSG00000169432
location
chr: 2
start: 167051695
stop: 167232497
strand: -
OMIM
OMIM:603415:
SCN9A
(Autosomal dominant inheritance)
OMIM:613863:
Epilepsy, generalized, with febrile seizures plus, type 7
OMIM:133020:
Erythermalgia, primary
OMIM:613863:
Febrile seizures, familial, 3B
OMIM:243000:
HSAN2D, autosomal recessive
OMIM:243000:
Insensitivity to pain, congenital
OMIM:167400:
Paroxysmal extreme pain disorder
OMIM:133020:
Small fiber neuropathy
OMIM:607208:
{Dravet syndrome, modifier of}
transcripts
ENST00000409672.1
pathways
Axon guidance
[NCBI:83065]
[KEGG:hsa04360]
[NCBI:1270303]
[REACTOME:R-HSA-422475]
[PUBMED:14682358]
[PUBMED:15084255]
[PUBMED:11687826]
[PUBMED:15818466]
[PUBMED:15363605]
[PUBMED:12471249]
[PUBMED:15630019]
[PUBMED:11891122]
[PUBMED:15960985]
[PUBMED:12677003]
Cardiac conduction
[NCBI:1339115]
[REACTOME:R-HSA-5576891]
[PUBMED:19808464]
[PUBMED:26140724]
[PUBMED:21357845]
Developmental Biology
[NCBI:1270302]
[REACTOME:R-HSA-1266738]
Interaction between L1 and Ankyrins
[NCBI:1270325]
[REACTOME:R-HSA-445095]
[PUBMED:19356150]
[PUBMED:16904324]
[PUBMED:20156840]
[PUBMED:18839070]
L1CAM interactions
[NCBI:1270323]
[REACTOME:R-HSA-373760]
[PUBMED:9211984]
[PUBMED:18760361]
[PUBMED:14709786]
[PUBMED:17189949]
[PUBMED:19356150]
Muscle contraction
[NCBI:1269868]
[REACTOME:R-HSA-397014]
Phase 0 - rapid depolarisation
[NCBI:1339117]
[REACTOME:R-HSA-5576892]
[PUBMED:21357845]
[PUBMED:19808464]
Taste transduction
[NCBI:83088]
[KEGG:hsa04742]
[PUBMED:14715493]
[PUBMED:17108952]
[PUBMED:21481196]
[PUBMED:20696704]
[PUBMED:19439032]
[PUBMED:24607224]
[PUBMED:23261954]
[PUBMED:25820328]
[PUBMED:23587289]
[PUBMED:23467090]
[PUBMED:22570381]
[PUBMED:19284629]
[PUBMED:23959882]
[PUBMED:17287577]
[PUBMED:24385952]
