full name
sodium voltage-gated channel alpha subunit 5

synonyms
CDCD2, CMD1E, CMPD2, HB1, HB2, HBBD, HH1, ICCD, IVF, LQT3, Nav1.5, PFHB1, SSS1, VF1, SCN5A, ENSG00000183873

HGNC
HGNC:10593

Entrez Gene
Gene:6331

ENSEMBL
ENSG00000183873

location
chr: 3
start: 38589553
stop: 38691164
strand: -

OMIM
OMIM:600163: SCN5A (Autosomal dominant inheritance)
OMIM:614022: Atrial fibrillation, familial, 10
OMIM:601144: Brugada syndrome 1
OMIM:601154: Cardiomyopathy, dilated, 1E
OMIM:113900: Heart block, nonprogressive
OMIM:113900: Heart block, progressive, type IA
OMIM:603830: Long QT syndrome-3
OMIM:608567: Sick sinus syndrome 1
OMIM:603829: Ventricular fibrillation, familial, 1
OMIM:272120: {Sudden infant death syndrome, susceptibility to}

transcripts
NM_001160161.1
NM_001160160.1
NM_000335.4
NM_198056.2
NM_001099405.1
NM_001099404.1

pathways
Adrenergic signaling in cardiomyocytes [NCBI:908257] [KEGG:hsa04261] [PUBMED:15232578] [PUBMED:20923637] [PUBMED:10571541] [PUBMED:11604549] [PUBMED:17988210] [PUBMED:11805843] [PUBMED:15142747] [PUBMED:21212391] [PUBMED:20658186] [PUBMED:16765984] [PUBMED:19874988] [PUBMED:19883653] [PUBMED:15979723] [PUBMED:18407781] [PUBMED:22022314] [PUBMED:12439640] [PUBMED:17826821] [PUBMED:15765137]
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]