SCN3B sodium voltage-gated channel beta subunit 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SCN3Bprovided by HGNC
Official Full Name: sodium voltage-gated channel beta subunit 3provided by HGNC
Primary source: HGNC:HGNC:20665
See related: Ensembl:ENSG00000166257 MIM:608214; AllianceGenome:HGNC:20665
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SCNB3; ATFB16; BRGDA7; HSA243396
Summary: Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel beta subunit gene family, and influences the inactivation kinetics of the sodium channel. Two alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]
Expression: Biased expression in brain (RPKM 50.6) and adrenal (RPKM 4.9) See more
Orthologs: mouse all
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Genomic context

Location:: 11q24.1

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (123629188..123654624, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (123658164..123683597, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (123499896..123525332, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Voltage-gated sodium channels beta3 subunit promotes tumorigenesis in hepatocellular carcinoma by facilitating p53 degradation.
Title: Voltage-gated sodium channels β3 subunit promotes tumorigenesis in hepatocellular carcinoma by facilitating p53 degradation.
rs1783901 may play a potential role of gene regulation and/or epistasis in a complex etiology of vertigo.
Title: An Analysis of the Association between Epilepsy-Related Genes and Vertigo in the Polish Population.
Contribution of Cardiac Sodium Channel beta-Subunit Variants to Brugada Syndrome.
Title: Contribution of Cardiac Sodium Channel β-Subunit Variants to Brugada Syndrome.
In a nonreferred nationwide Danish cohort of SIDS cases, up to 5/66 (7.5%) of SIDS cases can be explained by genetic variants in the sodium channel complex genes.
Title: The role of the sodium current complex in a nonreferred nationwide cohort of sudden infant death syndrome.
SCN1-3B the gene that encode respectively a- and b-subunits of the cardiac fast voltage-gated sodium channel, have been linked to atrial fibrillation.
Title: Risk factors and genetics of atrial fibrillation.
The Val110Ile mutation of SCN3B is a relatively common cause of SCN5A-negative BrS in Japan, which has a reduced sodium current because of the loss of cell surface expression of Nav1.5.
Title: Novel SCN3B mutation associated with brugada syndrome affects intracellular trafficking and function of Nav1.5.
the beta3 subunit can mediate trans homophilic-binding via its Ig domain and the beta3-Ig domain can associate heterophilically with the beta1 subunit
Title: The immunoglobulin domain of the sodium channel β3 subunit contains a surface-localized disulfide bond that is required for homophilic binding.
three mutations in SCN3B were investigated electrophysiologically and all led to loss of function in the sodium current, supporting the hypothesis that decreased sodium current enhances atrial fibrillation susceptibility
Title: Mutations in sodium channel β-subunit SCN3B are associated with early-onset lone atrial fibrillation.
The researchers found evidence of an association between SCN3B subunit mutations and sudden infant death syndrome pathogenesis.
Title: Sudden infant death syndrome-associated mutations in the sodium channel beta subunits.
The sodium channel {beta}3-subunit induces multiphasic gating in NaV1.3 and affects fast inactivation via distinct intracellular regions.
Title: The sodium channel {beta}3-subunit induces multiphasic gating in NaV1.3 and affects fast inactivation via distinct intracellular regions.

Submit: New GeneRIF Correction See all GeneRIFs (16)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Brugada syndrome 7 MedGen: C2751088 OMIM: 613120 GeneReviews: Brugada Syndrome	Compare labs

EBI GWAS Catalog

Description
A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC15797P2 (e-PCR)
- UniSTS:271433

A006R46 (e-PCR)
- UniSTS:37708

STS-Z41028 (e-PCR)
- UniSTS:69966

D1S1425 (e-PCR)
- UniSTS:149621

RH12768 (e-PCR)
- UniSTS:4492

SHGC-77877 (e-PCR)
- UniSTS:96157

A006Q45 (e-PCR)
- UniSTS:17860

D15S1390 (e-PCR)
- UniSTS:474340

T03530 (e-PCR)
- UniSTS:41188

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sodium channel inhibitor activity	IBA Inferred from Biological aspect of Ancestor more info
enables sodium channel regulator activity	IDA Inferred from Direct Assay more info	PubMed
enables sodium channel regulator activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables transmembrane transporter binding	IBA Inferred from Biological aspect of Ancestor more info
enables transmembrane transporter binding	IPI Inferred from Physical Interaction more info	PubMed
enables voltage-gated sodium channel activity involved in cardiac muscle cell action potential	IDA Inferred from Direct Assay more info	PubMed
enables voltage-gated sodium channel activity involved in cardiac muscle cell action potential	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
involved_in SA node cell action potential	ISS Inferred from Sequence or Structural Similarity more info
involved_in atrial cardiac muscle cell action potential	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cardiac muscle cell action potential involved in contraction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cardiac muscle contraction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in membrane depolarization	IDA Inferred from Direct Assay more info	PubMed
involved_in membrane depolarization during action potential	IDA Inferred from Direct Assay more info	PubMed
involved_in membrane depolarization during action potential	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in membrane depolarization during cardiac muscle cell action potential	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in nervous system development	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of heart rate	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of sodium ion transport	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of sodium ion transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein localization to plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of atrial cardiac muscle cell membrane depolarization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of heart rate by cardiac conduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of heart rate by cardiac conduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of sodium ion transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of sodium ion transmembrane transporter activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of ventricular cardiac muscle cell membrane depolarization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sodium ion transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in sodium ion transport	NAS Non-traceable Author Statement more info	PubMed
involved_in ventricular cardiac muscle cell action potential	IBA Inferred from Biological aspect of Ancestor more info
involved_in ventricular cardiac muscle cell action potential	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in Z disc	ISS Inferred from Sequence or Structural Similarity more info
located_in membrane	NAS Non-traceable Author Statement more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
part_of voltage-gated sodium channel complex	IBA Inferred from Biological aspect of Ancestor more info
part_of voltage-gated sodium channel complex	IDA Inferred from Direct Assay more info	PubMed
part_of voltage-gated sodium channel complex	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: sodium channel regulatory subunit beta-3; sodium channel subunit beta-3

Names: sodium channel, voltage-gated, type III, beta subunit; voltage-gated sodium channel beta-3 subunit

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_016283.1 RefSeqGene

Range

5001..30421

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_421

mRNA and Protein(s)

NM_001040151.2 → NP_001035241.1 sodium channel regulatory subunit beta-3 precursor

See identical proteins and their annotated locations for NP_001035241.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform.

Source sequence(s)

AP002765

Consensus CDS

CCDS8442.1

UniProtKB/Swiss-Prot

A5H1I5, Q17RL3, Q9NY72, Q9ULR2

Related

ENSP00000299333.3, ENST00000299333.8

Conserved Domains (2) summary

pfam07686
Location:28 → 140

V-set; Immunoglobulin V-set domain

cd00096
Location:31 → 37

Ig; Ig strand A' [structural motif]
NM_018400.4 → NP_060870.1 sodium channel regulatory subunit beta-3 precursor

See identical proteins and their annotated locations for NP_060870.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript.

Source sequence(s)

AP002765

Consensus CDS

CCDS8442.1

UniProtKB/Swiss-Prot

A5H1I5, Q17RL3, Q9NY72, Q9ULR2

Related

ENSP00000376523.2, ENST00000392770.6

Conserved Domains (2) summary

pfam07686
Location:28 → 140

V-set; Immunoglobulin V-set domain

cd00096
Location:31 → 37

Ig; Ig strand A' [structural motif]