Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Other IDs Associated diseases
Entrez ID	6324
Gene name	Sodium voltage-gated channel beta subunit 1
Gene symbol	SCN1B
Synonyms (NCBI Gene)	ATFB13BRGDA5DEE52EIEE52GEFSP1
Chromosome	19
Chromosome location	19q13.11
Summary	Voltage-gated sodium channels are heteromeric proteins that function in the generation and propagation of action potentials in muscle and neuronal cells. They are composed of one alpha and two beta subunits, where the alpha subunit provides channel activi

Show/Hide all (20)

SNP ID	Visualize variation	Clinical significance	Consequence
rs16969925	G>A	Pathogenic	Coding sequence variant, missense variant
rs66876876	G>A	Benign-likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant, coding sequence variant, missense variant
rs72552027	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign	Coding sequence variant, genic upstream transcript variant, missense variant, upstream transcript variant
rs72558026	G>A	Benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant, coding sequence variant, missense variant
rs72558028	G>A,C	Likely-benign, benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant, coding sequence variant, missense variant
rs104894718	C>A,G,T	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Synonymous variant, coding sequence variant, missense variant, stop gained
rs121434627	G>A,C,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs193922728	G>A	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, intron variant
rs267607028	G>A	Pathogenic, uncertain-significance	Coding sequence variant, stop gained, intron variant
rs267607029	G>A	Pathogenic	Coding sequence variant, stop gained, intron variant
rs369032304	G>A,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, intron variant
rs724159982	A>C	Pathogenic	Splice acceptor variant
rs786205830	C>T	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Missense variant, coding sequence variant
rs786205837	G>A	Pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs794727487	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs931949929	A>G,T	Pathogenic	Missense variant, coding sequence variant
rs1057519457	A>T	Pathogenic	Coding sequence variant, missense variant
rs1064794589	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1135401736	C>T	Pathogenic	Coding sequence variant, missense variant
rs1600364712	T>G	Pathogenic	Coding sequence variant, missense variant

101

Show/Hide all (101)

miRTarBase ID	miRNA	Experiments	Reference
MIRT016821	hsa-miR-335-5p	Microarray	18185580
MIRT047007	hsa-miR-210-3p	CLASH	23622248
MIRT038411	hsa-miR-296-3p	CLASH	23622248
MIRT531887	hsa-miR-136-3p	PAR-CLIP	22012620
MIRT531886	hsa-miR-6785-3p	PAR-CLIP	22012620
MIRT531885	hsa-miR-6801-3p	PAR-CLIP	22012620
MIRT531884	hsa-miR-6810-3p	PAR-CLIP	22012620
MIRT531883	hsa-miR-6752-3p	PAR-CLIP	22012620
MIRT531882	hsa-miR-6846-3p	PAR-CLIP	22012620
MIRT531880	hsa-miR-4755-3p	PAR-CLIP	22012620
MIRT531881	hsa-miR-4632-3p	PAR-CLIP	22012620
MIRT531887	hsa-miR-136-3p	PAR-CLIP	22012620
MIRT531886	hsa-miR-6785-3p	PAR-CLIP	22012620
MIRT531885	hsa-miR-6801-3p	PAR-CLIP	22012620
MIRT531884	hsa-miR-6810-3p	PAR-CLIP	22012620
MIRT531883	hsa-miR-6752-3p	PAR-CLIP	22012620
MIRT531882	hsa-miR-6846-3p	PAR-CLIP	22012620
MIRT531880	hsa-miR-4755-3p	PAR-CLIP	22012620
MIRT531881	hsa-miR-4632-3p	PAR-CLIP	22012620
MIRT1329755	hsa-miR-1224-3p	CLIP-seq
MIRT1329756	hsa-miR-1321	CLIP-seq
MIRT1329757	hsa-miR-1322	CLIP-seq
MIRT1329758	hsa-miR-138	CLIP-seq
MIRT1329759	hsa-miR-1913	CLIP-seq
MIRT1329760	hsa-miR-3144-5p	CLIP-seq
MIRT1329761	hsa-miR-3147	CLIP-seq
MIRT1329762	hsa-miR-324-3p	CLIP-seq
MIRT1329763	hsa-miR-342-5p	CLIP-seq
MIRT1329764	hsa-miR-3922-5p	CLIP-seq
MIRT1329765	hsa-miR-4270	CLIP-seq
MIRT1329766	hsa-miR-4299	CLIP-seq
MIRT1329767	hsa-miR-4313	CLIP-seq
MIRT1329768	hsa-miR-4433	CLIP-seq
MIRT1329769	hsa-miR-4441	CLIP-seq
MIRT1329770	hsa-miR-4466	CLIP-seq
MIRT1329771	hsa-miR-4514	CLIP-seq
MIRT1329772	hsa-miR-4649-5p	CLIP-seq
MIRT1329773	hsa-miR-4664-5p	CLIP-seq
MIRT1329774	hsa-miR-4692	CLIP-seq
MIRT1329775	hsa-miR-4706	CLIP-seq
MIRT1329776	hsa-miR-4710	CLIP-seq
MIRT1329777	hsa-miR-4722-5p	CLIP-seq
MIRT1329778	hsa-miR-4726-3p	CLIP-seq
MIRT1329779	hsa-miR-4728-5p	CLIP-seq
MIRT1329780	hsa-miR-4739	CLIP-seq
MIRT1329781	hsa-miR-4749-5p	CLIP-seq
MIRT1329782	hsa-miR-4756-5p	CLIP-seq
MIRT1329783	hsa-miR-4779	CLIP-seq
MIRT1329784	hsa-miR-4792	CLIP-seq
MIRT1329785	hsa-miR-486-3p	CLIP-seq
MIRT1329786	hsa-miR-5095	CLIP-seq
MIRT1329787	hsa-miR-675	CLIP-seq
MIRT1329788	hsa-miR-744	CLIP-seq
MIRT1329789	hsa-miR-765	CLIP-seq
MIRT1329790	hsa-miR-922	CLIP-seq
MIRT1329761	hsa-miR-3147	CLIP-seq
MIRT1329772	hsa-miR-4649-5p	CLIP-seq
MIRT1329777	hsa-miR-4722-5p	CLIP-seq
MIRT1329779	hsa-miR-4728-5p	CLIP-seq
MIRT1329785	hsa-miR-486-3p	CLIP-seq
MIRT2322048	hsa-miR-1254	CLIP-seq
MIRT2322049	hsa-miR-3116	CLIP-seq
MIRT2322050	hsa-miR-3937	CLIP-seq
MIRT2322051	hsa-miR-4254	CLIP-seq
MIRT2322052	hsa-miR-4488	CLIP-seq
MIRT2322053	hsa-miR-4697-5p	CLIP-seq
MIRT2322054	hsa-miR-4731-5p	CLIP-seq
MIRT2322055	hsa-miR-4746-3p	CLIP-seq
MIRT1329785	hsa-miR-486-3p	CLIP-seq
MIRT2322056	hsa-miR-550a	CLIP-seq
MIRT2322057	hsa-miR-637	CLIP-seq
MIRT2322058	hsa-miR-661	CLIP-seq
MIRT2322048	hsa-miR-1254	CLIP-seq
MIRT2394087	hsa-miR-185	CLIP-seq
MIRT2322049	hsa-miR-3116	CLIP-seq
MIRT2322050	hsa-miR-3937	CLIP-seq
MIRT2322051	hsa-miR-4254	CLIP-seq
MIRT2394088	hsa-miR-4306	CLIP-seq
MIRT2322052	hsa-miR-4488	CLIP-seq
MIRT2394089	hsa-miR-4644	CLIP-seq
MIRT2322053	hsa-miR-4697-5p	CLIP-seq
MIRT2322054	hsa-miR-4731-5p	CLIP-seq
MIRT2322055	hsa-miR-4746-3p	CLIP-seq
MIRT1329785	hsa-miR-486-3p	CLIP-seq
MIRT2322056	hsa-miR-550a	CLIP-seq
MIRT2322057	hsa-miR-637	CLIP-seq
MIRT2322058	hsa-miR-661	CLIP-seq
MIRT2458923	hsa-miR-2467-5p	CLIP-seq
MIRT2458924	hsa-miR-3160-5p	CLIP-seq
MIRT2458925	hsa-miR-3188	CLIP-seq
MIRT2458926	hsa-miR-3921	CLIP-seq
MIRT2458927	hsa-miR-3975	CLIP-seq
MIRT2458928	hsa-miR-4314	CLIP-seq
MIRT2458929	hsa-miR-4522	CLIP-seq
MIRT2458930	hsa-miR-4649-3p	CLIP-seq
MIRT2458931	hsa-miR-4653-5p	CLIP-seq
MIRT2458932	hsa-miR-4667-5p	CLIP-seq
MIRT2458933	hsa-miR-4700-5p	CLIP-seq
MIRT2458934	hsa-miR-4714-5p	CLIP-seq
MIRT2458935	hsa-miR-485-5p	CLIP-seq
MIRT2322057	hsa-miR-637	CLIP-seq

Show/Hide all (64)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001518	Component	Voltage-gated sodium channel complex	IBA
GO:0001518	Component	Voltage-gated sodium channel complex	IDA	8125980, 19808477, 21051419, 30190309, 35277491, 36696443, 36823201
GO:0001518	Component	Voltage-gated sodium channel complex	IEA
GO:0002028	Process	Regulation of sodium ion transport	IEA
GO:0005515	Function	Protein binding	IPI	26900580, 30190309
GO:0005576	Component	Extracellular region	IEA
GO:0005886	Component	Plasma membrane	IDA	35277491
GO:0005886	Component	Plasma membrane	IDA	19710327, 30190309
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006814	Process	Sodium ion transport	IEA
GO:0007155	Process	Cell adhesion	IEA
GO:0007411	Process	Axon guidance	IEA
GO:0007411	Process	Axon guidance	ISS
GO:0010765	Process	Positive regulation of sodium ion transport	IDA	19808477
GO:0010976	Process	Positive regulation of neuron projection development	IEA
GO:0010976	Process	Positive regulation of neuron projection development	ISS
GO:0014704	Component	Intercalated disc	IEA
GO:0014704	Component	Intercalated disc	ISS
GO:0016020	Component	Membrane	IEA
GO:0017080	Function	Sodium channel regulator activity	IDA	14622265
GO:0017080	Function	Sodium channel regulator activity	IDA	8125980, 14622265, 18464934, 19710327, 19808477, 36696443
GO:0017080	Function	Sodium channel regulator activity	IEA
GO:0019227	Process	Neuronal action potential propagation	IEA
GO:0019227	Process	Neuronal action potential propagation	ISS
GO:0019871	Function	Sodium channel inhibitor activity	IBA
GO:0019871	Function	Sodium channel inhibitor activity	IEA
GO:0019871	Function	Sodium channel inhibitor activity	ISS	17884088
GO:0021966	Process	Corticospinal neuron axon guidance	IEA
GO:0021966	Process	Corticospinal neuron axon guidance	ISS
GO:0030315	Component	T-tubule	IEA
GO:0030315	Component	T-tubule	ISS
GO:0030424	Component	Axon	IEA
GO:0031175	Process	Neuron projection development	IEA
GO:0033268	Component	Node of Ranvier	IEA
GO:0033268	Component	Node of Ranvier	ISS
GO:0034706	Component	Sodium channel complex	IEA
GO:0035725	Process	Sodium ion transmembrane transport	IBA
GO:0035725	Process	Sodium ion transmembrane transport	IDA	18464934, 21051419
GO:0040011	Process	Locomotion	IEA
GO:0040011	Process	Locomotion	ISS
GO:0042995	Component	Cell projection	IEA
GO:0043204	Component	Perikaryon	IEA
GO:0044325	Function	Transmembrane transporter binding	IBA
GO:0051899	Process	Membrane depolarization	IDA	21051419
GO:0060048	Process	Cardiac muscle contraction	IMP	19808477
GO:0060307	Process	Regulation of ventricular cardiac muscle cell membrane repolarization	IEA
GO:0060307	Process	Regulation of ventricular cardiac muscle cell membrane repolarization	ISS	17884088
GO:0060371	Process	Regulation of atrial cardiac muscle cell membrane depolarization	IMP	19808477, 22247482
GO:0061337	Process	Cardiac conduction	IEA
GO:0061337	Process	Cardiac conduction	ISS
GO:0086002	Process	Cardiac muscle cell action potential involved in contraction	IBA
GO:0086002	Process	Cardiac muscle cell action potential involved in contraction	IMP	19808477
GO:0086010	Process	Membrane depolarization during action potential	IDA	35277491
GO:0086012	Process	Membrane depolarization during cardiac muscle cell action potential	IBA
GO:0086012	Process	Membrane depolarization during cardiac muscle cell action potential	IEA
GO:0086012	Process	Membrane depolarization during cardiac muscle cell action potential	IMP	19808477
GO:0086012	Process	Membrane depolarization during cardiac muscle cell action potential	ISS	17884088
GO:0086047	Process	Membrane depolarization during Purkinje myocyte cell action potential	IMP	18464934
GO:0086091	Process	Regulation of heart rate by cardiac conduction	IBA
GO:0086091	Process	Regulation of heart rate by cardiac conduction	IMP	19808477
GO:1902305	Process	Regulation of sodium ion transmembrane transport	IDA	14622265
GO:1905152	Process	Positive regulation of voltage-gated sodium channel activity	IDA	36696443

MIM	HGNC	e!Ensembl
600235	10586	ENSG00000105711

Q07699

Protein name

Sodium channel regulatory subunit beta-1

Protein function

Regulatory subunit of multiple voltage-gated sodium (Nav) channels directly mediating the depolarization of excitable membranes. Navs, also called VGSCs (voltage-gated sodium channels) or VDSCs (voltage-dependent sodium channels), operate by swi

PDB

6AGF , 6J8G , 6J8H , 6J8I , 6J8J , 7W77 , 7W7F , 7W9K , 7W9L , 7W9M , 7W9P , 7W9T , 7XM9 , 7XMF , 7XMG , 7XVE , 7XVF , 8FHD , 8G1A , 8GZ1 , 8GZ2 , 8I5B , 8I5G , 8I5X , 8I5Y , 8J4F , 8S9B , 8S9C , 8THG , 8THH , 8XMM , 8XMN , 8XMO

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07686	V-set	23 → 146	Immunoglobulin V-set domain	Domain

Tissue specificity

TISSUE SPECIFICITY: The overall expression of isoform 1 and isoform 2 is very similar. Isoform 1 is abundantly expressed in skeletal muscle, heart and brain. Isoform 2 is highly expressed in brain and skeletal muscle and present at a very low level in hea

Sequence

MGRLLALVVGAALVSSACGGCVEVDSETEAVYGMTFKILCISCKRRSETNAETFTEWTFR
QKGTEEFVKILRYENEVLQLEEDERFEGRVVWNGSRGTKDLQDLSIFITNVTYNHSGDYE
CHVYRLLFFENYEHNTSVVKKIHIEVVDKANRDMASIVSEIMMYVLIVVLTIWLVAEMIY
CYKKIAAATETAAQENASEYLAITSESKENCTGVQVAE

Sequence length

218

Interactions

View interactions

954

Show/Hide Causal Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Atrial fibrillation, familial, 13	Likely pathogenic; Pathogenic	rs104894718, rs16969925	RCV000184010 RCV000054537
Brugada syndrome 5	Pathogenic; Likely pathogenic	rs2151746426, rs2151746369, rs786205835, rs786205830, rs138450474, rs794727487, rs2514234475, rs2514240912, rs2514234786, rs2064230124, rs104894718, rs2514233130, rs2514232999, rs1568348569, rs2514232982 View all (5 more)	RCV002014540 RCV001885863 RCV003067340 RCV001127219 RCV002515234 RCV001320975 RCV002861464 RCV002898924 RCV002877525 RCV003055259 RCV000646741 RCV003510746 RCV003511298 RCV003511286 RCV003510175 RCV003623809 RCV003509616 RCV000763041 RCV001061114 RCV001041440
Cardiomyopathy	Pathogenic	rs1057519457	RCV000416448
Cardiovascular phenotype	Likely pathogenic; Pathogenic	rs786205830, rs794727487, rs104894718, rs16969925	RCV000620273 RCV006342147 RCV002316188 RCV002453365
Conduction system disorder	Pathogenic	rs267607029	RCV000009838
Developmental and epileptic encephalopathy, 52	Likely pathogenic; Pathogenic	rs786205830, rs104894718, rs2514235517, rs931949929, rs1600370558, rs1600364712, rs16969925	RCV003448275 RCV000763042 RCV003990275 RCV000417192 RCV000856658 RCV000856659 RCV000763041
Generalized epilepsy with febrile seizures plus, type 1	Likely pathogenic; Pathogenic	rs786205830, rs104894718, rs724159982, rs1600370558, rs16969925	RCV000500892 RCV000009834 RCV000009835 RCV000984918 RCV000763041
Genetic developmental and epileptic encephalopathy	Pathogenic	rs1600370558	RCV006271675
SCN1B-related disorder	Likely pathogenic; Pathogenic	rs104894718, rs16969925	RCV004532319 RCV004542717

Show/Hide Unknown Diseases (31)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign; Likely benign	rs28365107, rs28365109	RCV005922313 RCV005891393
Atrial fibrillation, familial, 1	Uncertain significance	rs1351632820	RCV003483778
Brugada syndrome	Conflicting classifications of pathogenicity; Uncertain significance	rs780958012, rs776213428	RCV005627367 RCV000845413
Brugada syndrome 1	Uncertain significance	rs2514240731	RCV002291191
Cardiac arrhythmia	Benign; Conflicting classifications of pathogenicity	rs67486287, rs193922728	RCV001841545 RCV001841546
Cervical cancer	Benign; Likely benign	rs28365107, rs28365109	RCV005922315 RCV005891395
Childhood absence epilepsy	Uncertain significance	rs767384862	RCV000789049
Cholangiocarcinoma	Benign; Likely benign	rs28365107, rs28365109	RCV005922320 RCV005891400
Clear cell carcinoma of kidney	Benign; Likely benign	rs28365109	RCV005891396
Death in early adulthood	Uncertain significance	rs72550247	RCV000234993
Developmental and epileptic encephalopathy, 1	Uncertain significance	rs199685662, rs1351632820	RCV005863150 RCV003483778
Epileptic encephalopathy	Conflicting classifications of pathogenicity	rs766910280	RCV003483751
Familial cancer of breast	Benign; Likely benign	rs28365107, rs28365109	RCV005922312 RCV005891392
Gastric cancer	Benign; Likely benign	rs3746255, rs28365105	RCV005886823 RCV005913801
Hepatocellular carcinoma	Benign; Likely benign	rs3746255	RCV005886821
Long QT syndrome	Benign; Likely benign; Conflicting classifications of pathogenicity	rs72558029, rs66876876	RCV000172897 RCV003318360
Lung cancer	Benign; Likely benign	rs28365107, rs28365109	RCV005922321 RCV005891401
Malignant tumor of esophagus	Benign; Likely benign	rs28365107, rs3746255, rs28365109, rs72556351	RCV005922314 RCV005886822 RCV005891394 RCV005886263
Melanoma	Conflicting classifications of pathogenicity	rs370937269	RCV005901159
Ovarian serous cystadenocarcinoma	Benign	rs28365107	RCV005922318
Sarcoma	Benign; Likely benign	rs28365107, rs28365109, rs72556351	RCV005922317 RCV005891398 RCV005886264
See cases	Uncertain significance	rs138450474	RCV002252143
Seizure	Conflicting classifications of pathogenicity	rs1135401736	RCV001785611
Self-limited epilepsy with centrotemporal spikes	Uncertain significance	rs138450474	RCV000656062
Severe myoclonic epilepsy in infancy	Uncertain significance	rs774152936	RCV001731195
Thymoma	Benign; Likely benign	rs28365107, rs3746255, rs28365109	RCV005922319 RCV005886824 RCV005891399
Thyroid cancer, nonmedullary, 1	Benign; Likely benign; Uncertain significance	rs3746255, rs368129661	RCV005886825 RCV005931882
Undetermined early-onset epileptic encephalopathy	Conflicting classifications of pathogenicity	rs1193962006	RCV004017681
Uterine corpus endometrial carcinoma	Benign; Likely benign; Uncertain significance	rs28365107, rs28365109, rs199685662	RCV005922322 RCV005891402 RCV005899442
Uveal melanoma	Benign; Likely benign; Conflicting classifications of pathogenicity	rs28365107, rs28365109, rs370937269	RCV005922316 RCV005891397 RCV005901158
Ventricular fibrillation	Conflicting classifications of pathogenicity	rs72558026	RCV000157473

Show/Hide Text Mining Associations (32)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Arrhythmias Cardiac	Associate	18464934, 25253298, 27707468, 34583279, 35752364, 38139087
Atrial Fibrillation	Associate	20558140, 38139087
Brain Diseases	Associate	33901312
Brugada Syndrome	Associate	25253298, 27707468, 31627867, 34034907, 34583279
Cardiomyopathy Hypertrophic	Associate	38139087
Charcot Marie Tooth Disease Dominant Intermediate B	Associate	34034907
Colorectal Neoplasms	Associate	32207560
Disease	Associate	18464934
Drug Resistant Epilepsy	Associate	19270815, 27094248, 34583279
Epilepsies Myoclonic	Associate	23148524, 28102593, 28681755, 30921204, 31709768, 34583279
Epilepsy	Associate	29056246, 29466837, 34583279, 35752364, 35801810, 36288729, 40191585
Epilepsy Idiopathic Generalized	Associate	14738422, 36374051
Epileptic Encephalopathy Early Infantile 3	Associate	31709768, 36571524
Epileptic Syndromes	Associate	25253298
Frasier Syndrome	Associate	31729702
Generalized Epilepsy With Febrile Seizures Plus Type 1	Associate	10486327, 11254444, 14738422, 15827091, 35886038, 36288729
Hearing Loss	Associate	31709768
Heart Diseases	Associate	18464934, 32529721, 35205305
Heterotaxy Syndrome	Associate	38139087
Infantile Epileptic Dyskinetic Encephalopathy	Associate	31709768
Irritable Bowel Syndrome	Associate	34034907
Liddle Syndrome	Associate	38013303
Long QT Syndrome	Associate	18052691, 34583279
Mohr Tranebjaerg syndrome	Associate	27094248
Neoplasms	Associate	35752364
Neuropathy Painful	Associate	32877464
Opioid Induced Constipation	Associate	34034907
Otitis Media	Associate	21857919
Seizures	Associate	31709768
Seizures Febrile	Associate	12086636, 19292758, 34583279
Status Epilepticus	Associate	31709768
Wolf Hirschhorn Syndrome	Associate	28102593

SCN1B (sodium voltage-gated channel beta subunit 1)