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]