Gene table of SCN5A : sodium voltage-gated channel alpha subunit 5

Gene-disease associations table

Disease ID	Disease name	Source of annotation with SCN5A	OMIM link	Number of associated genes	genes
PS115200	DILATED CARDIOMYOPATHY	ClinVar, OMIM, HUMSAVAR	link to OMIM	36	MYBPC3, VCL, PSEN2, PLN, LDB3, ACTC1, BAG3, RBM20, CSRP3, RAF1, MYH7, SGCD, TTN, FKTN, CRYAB, NEXN, SDHA, ABCC9, DSG2, ACTN2, TNNT2, GATAD1, EYA4, TNNC1, LAMA4, SCN5A, MYH6, DMD, TPM1, TNNI3, PRDM16, DES, LMNA, TMPO, MYPN, PSEN1
PS608583	ATRIAL FIBRILLATION, FAMILIAL	ClinVar, OMIM, HUMSAVAR	link to OMIM	13	SCN3B, NUP155, SCN2B, KCNQ1, GJA5, ABCC9, SCN4B, KCNE2, KCNJ2, KCNA5, SCN5A, NPPA, SCN1B
108770	ATRIAL STANDSTILL 1	HUMSAVAR	link to OMIM	2	GJA5, SCN5A
272120	SUDDEN INFANT DEATH SYNDROME	ClinVar, OMIM, HUMSAVAR	link to OMIM	7	KCNJ8, SCN5A, CAV3, KCNH2, GPD1L, SCN4B, KCNQ1
PS604772	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC	ClinVar	link to OMIM	15	TRDN, MYBPC3, TPM1, SCN5A, DMPK, LMNA, CALM1, DSP, RYR2, ANK2, TRPM4, KCNH2, LAMA4, CASQ2, DSG2
PS192500	LONG QT SYNDROME	ClinVar, OMIM, HUMSAVAR	link to OMIM	16	ALG10, KCNJ5, AKAP9, CALM1, CALM2, KCNE1, ANK2, SCN5A, KCNH2, SNTA1, CACNA1C, KCNE2, SCN4B, KCNJ2, KCNQ1, CAV3
PS113900	PROGRESSIVE FAMILIAL HEART BLOCK	ClinVar, OMIM, HUMSAVAR	link to OMIM	2	SCN5A, TRPM4
PS608567	SICK SINUS SYNDROME	ClinVar, OMIM, HUMSAVAR	link to OMIM	3	MYH6, SCN5A, HCN4
115000	CARDIAC ARRHYTHMIA	ClinVar	link to OMIM	25	KCNE3, CACNB2, AKAP9, NPPA, KCNE1, SCN4B, CASQ2, KCNJ5, TANGO2, JUP, ANK2, KCNJ2, DSG2, NOS1AP, KCNJ8, LIG3, RYR2, CACNA1C, KCNE2, KCNH2, SCN5A, HCN4, SNTA1, SCN1B, KCNQ1
603829	VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 1	ClinVar, OMIM, HUMSAVAR	link to OMIM	13	DSP, JPH2, MYH7, VCL, TTN, SNTA1, CACNA1C, RYR2, PKP2, KCNH2, RBM20, SCN5A, JUP
PS601144	BRUGADA SYNDROME	ClinVar, OMIM, HUMSAVAR	link to OMIM	9	KCNE3, KCND3, CACNB2, SCN3B, HCN4, CACNA1C, GPD1L, SCN5A, SCN1B

Download the gene annotation in CSV format

Annotation of the gene SCN5A

Associated genes in ENSEMBL

ENSG00000183873

Associated proteins - SwissProt Accession ID

Q14524

Associated PDB IDs

Cytogenetic Band

3p22.2

Tandem repeats annotation

The gene is in the tandem Group 162, together with the genes:

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Adrenergic signaling in cardiomyocytes	hsa04261	5.44

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Axon guidance	R-HSA-422475	3.93
Interaction between L1 and Ankyrins	R-HSA-445095	8.03
L1CAM interactions	R-HSA-373760	6.19
Developmental Biology	R-HSA-1266738	3.48

Associated GO terms for Molecular function

GO term	GO ID	GO IC
ubiquitin-like protein ligase binding	GO:0044389	4.15
enzyme binding	GO:0019899	2.27
growth factor binding	GO:0019838	4.89
binding	GO:0005488	0.18
cation channel activity	GO:0005261	4.04
voltage-gated ion channel activity involved in regulation of postsynaptic membrane potential	GO:1905030	6.74
voltage-gated sodium channel activity involved in Purkinje myocyte action potential	GO:0086062	9.05
ion channel binding	GO:0044325	5.02
ankyrin binding	GO:0030506	6.74
voltage-gated sodium channel activity involved in bundle of His cell action potential	GO:0086061	9.74
voltage-gated sodium channel activity involved in cardiac muscle cell action potential	GO:0086006	8.13
sodium ion transmembrane transporter activity	GO:0015081	4.83
monovalent inorganic cation transmembrane transporter activity	GO:0015077	3.87
voltage-gated sodium channel activity involved in SA node cell action potential	GO:0086063	9.74
voltage-gated sodium channel activity involved in AV node cell action potential	GO:0086060	9.74
substrate-specific transporter activity	GO:0022892	2.72
passive transmembrane transporter activity	GO:0022803	3.6
metal ion transmembrane transporter activity	GO:0046873	3.71
calmodulin binding	GO:0005516	4.55
sodium channel activity	GO:0005272	6.13
inorganic cation transmembrane transporter activity	GO:0022890	3.49
transporter activity	GO:0005215	2.57
ion channel activity	GO:0005216	3.71
cation transmembrane transporter activity	GO:0008324	3.32
fibroblast growth factor binding	GO:0017134	6.52
protein kinase binding	GO:0019901	3.44
kinase binding	GO:0019900	3.32
ubiquitin protein ligase binding	GO:0031625	4.17
protein domain specific binding	GO:0019904	3.32
substrate-specific transmembrane transporter activity	GO:0022891	2.9
nitric-oxide synthase binding	GO:0050998	6.91
substrate-specific channel activity	GO:0022838	3.67
cytoskeletal protein binding	GO:0008092	3.02
ion transmembrane transporter activity	GO:0015075	3.04
voltage-gated channel activity	GO:0022832	4.49
transmembrane transporter activity	GO:0022857	2.82
channel activity	GO:0015267	3.6
scaffold protein binding	GO:0097110	5.93
gated channel activity	GO:0022836	3.96
protein binding	GO:0005515	0.46
voltage-gated sodium channel activity	GO:0005248	6.74
voltage-gated ion channel activity	GO:0005244	4.49