Gene table of SCN1B : sodium voltage-gated channel beta subunit 1

Gene-disease associations table

Disease ID	Disease name	Source of annotation with SCN1B	OMIM link	Number of associated genes	genes
PS601144	BRUGADA SYNDROME	ClinVar, OMIM	link to OMIM	9	KCNE3, KCND3, CACNB2, SCN3B, HCN4, CACNA1C, GPD1L, SCN5A, SCN1B
PS608583	ATRIAL FIBRILLATION, FAMILIAL	ClinVar, OMIM, HUMSAVAR	link to OMIM	13	SCN3B, NUP155, SCN2B, KCNQ1, GJA5, ABCC9, SCN4B, KCNE2, KCNJ2, KCNA5, SCN5A, NPPA, SCN1B
PS604233	EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS	ClinVar, OMIM, HUMSAVAR	link to OMIM	6	GABRD, STX1B, SCN9A, SCN1A, GABRG2, SCN1B
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

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Annotation of the gene SCN1B

Associated genes in ENSEMBL

ENSG00000105711

Associated proteins - SwissProt Accession ID

Q07699

Associated PDB IDs

Cytogenetic Band

19q13.11

Tandem repeats annotation

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
cation channel activity	GO:0005261	4.04
voltage-gated ion channel activity involved in regulation of postsynaptic membrane potential	GO:1905030	6.74
molecular function regulator	GO:0098772	2.51
voltage-gated sodium channel activity involved in Purkinje myocyte action potential	GO:0086062	9.05
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
sodium channel inhibitor activity	GO:0019871	8.13
monovalent inorganic cation transmembrane transporter activity	GO:0015077	3.87
transmembrane transporter activity	GO:0022857	2.82
channel inhibitor activity	GO:0016248	6.13
channel regulator activity	GO:0016247	4.88
passive transmembrane transporter activity	GO:0022803	3.6
metal ion transmembrane transporter activity	GO:0046873	3.71
sodium channel activity	GO:0005272	6.13
transporter activity	GO:0005215	2.57
ion channel activity	GO:0005216	3.71
cation transmembrane transporter activity	GO:0008324	3.32
substrate-specific transporter activity	GO:0022892	2.72
ion channel inhibitor activity	GO:0008200	6.15
substrate-specific transmembrane transporter activity	GO:0022891	2.9
inorganic cation transmembrane transporter activity	GO:0022890	3.49
substrate-specific channel activity	GO:0022838	3.67
ion transmembrane transporter activity	GO:0015075	3.04
voltage-gated channel activity	GO:0022832	4.49
sodium channel regulator activity	GO:0017080	6.3
channel activity	GO:0015267	3.6
gated channel activity	GO:0022836	3.96
voltage-gated sodium channel activity	GO:0005248	6.74
voltage-gated ion channel activity	GO:0005244	4.49