full name
sodium voltage-gated channel alpha subunit 2

synonyms
BFIC3, BFIS3, BFNIS, EIEE11, HBA, HBSCI, HBSCII, Na%28v%291.2, NAC2, Nav1.2, SCN2A1, SCN2A2, SCN2A, ENSG00000136531

HGNC
HGNC:10588

Entrez Gene
Gene:6326

ENSEMBL
ENSG00000136531

location
chr: 2
start: 165986659
stop: 166248820
strand: +

OMIM
OMIM:182390: SCN2A (Autosomal dominant inheritance)
OMIM:613721: Epileptic encephalopathy, early infantile, 11
OMIM:607745: Seizures, benign familial infantile, 3

transcripts
NM_001040142.1
NM_021007.2
NM_001040143.1

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]