Scn3b sodium channel, voltage-gated, type III, beta [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Scn3bprovided by MGI
Official Full Name: sodium channel, voltage-gated, type III, betaprovided by MGI
Primary source: MGI:MGI:1918882
See related: Ensembl:ENSMUSG00000049281 AllianceGenome:MGI:1918882
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Scnb3; 1110001K16Rik; 4833414B02Rik
Summary: Enables transmembrane transporter binding activity and voltage-gated sodium channel activity involved in cardiac muscle cell action potential. Involved in SA node cell action potential; positive regulation of heart rate; and regulation of atrial cardiac muscle cell membrane depolarization. Acts upstream of or within cardiac conduction and ventricular cardiac muscle cell action potential. Located in Z disc. Is expressed in several structures, including gut; nervous system; sensory organ; skeletal musculature; and urinary system. Used to study Brugada syndrome 7. Human ortholog(s) of this gene implicated in Brugada syndrome 7. Orthologous to human SCN3B (sodium voltage-gated channel beta subunit 3). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in CNS E18 (RPKM 43.1), whole brain E14.5 (RPKM 26.9) and 7 other tissues See more
Orthologs: human all
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Genomic context

Location:: 9; 9 A5.1

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
109	current	GRCm39 (GCF_000001635.27)	9	NC_000075.7 (40180512..40202914)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	9	NC_000075.6 (40269216..40291618)

Chromosome 9 - NC_000075.7 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: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

beta1-beta3 is more likely to form a di-polymer than beta1-beta1 based on molecular interaction analysis, including potential energy analysis
Title: Study of the residues involved in the binding of β1 to β3 subunits in the sodium channel.
This study demonistrated that scn3b gene expression in mouse dorsal raphe nucleus
Title: Patterned expression of ion channel genes in mouse dorsal raphe nucleus determined with the Allen Mouse Brain Atlas.
These data suggest that the SOD1G93A mutation results in increased expression of the beta3 subunit of voltage-gated Na+ channels in the spinal cord..
Title: Increased expression of the beta3 subunit of voltage-gated Na+ channels in the spinal cord of the SOD1G93A mouse.
deficiency in Scn3b results in significant atrial electrophysiological and intracardiac conduction abnormalities
Title: Scn3b knockout mice exhibit abnormal sino-atrial and cardiac conduction properties.
Bipolar electrogram and monophasic action potential recordings from the ventricles of Langendorff-perfused Scn3b(-/-) hearts demonstrated ventricular tachycardias induced by programmed electrical stimulation.
Title: Scn3b knockout mice exhibit abnormal ventricular electrophysiological properties.
SCN3B mediates a p53-dependent apoptotic pathway and may be a candidate for gene therapy combined with anticancer drugs.
Title: Identification of SCN3B as a novel p53-inducible proapoptotic gene.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (2) 1 citation
Endonuclease-mediated (1)

General gene information

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Homology

Homologs of the Scn3b gene: The Scn3b gene is conserved in human, chimpanzee, Rhesus monkey, dog, cow, rat, chicken, zebrafish, and frog.
Orthologs from Annotation Pipeline: 491 organisms have orthologs with human gene Scn3b
Orthologs

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables sodium channel activity	IEA Inferred from Electronic Annotation more info
enables sodium channel inhibitor activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables sodium channel regulator activity	ISO Inferred from Sequence Orthology more info
enables transmembrane transporter binding	IPI Inferred from Physical Interaction more info	PubMed
enables transmembrane transporter binding	ISO Inferred from Sequence Orthology more info
enables voltage-gated monoatomic ion channel activity	IEA Inferred from Electronic Annotation more info
enables voltage-gated sodium channel activity involved in cardiac muscle cell action potential	IMP Inferred from Mutant Phenotype more info	PubMed
enables voltage-gated sodium channel activity involved in cardiac muscle cell action potential	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in SA node cell action potential	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in atrial cardiac muscle cell action potential	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cardiac conduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cardiac muscle cell action potential involved in contraction	ISO Inferred from Sequence Orthology more info
involved_in cardiac muscle contraction	ISO Inferred from Sequence Orthology more info
involved_in membrane depolarization	ISO Inferred from Sequence Orthology more info
involved_in membrane depolarization during action potential	ISO Inferred from Sequence Orthology more info
involved_in membrane depolarization during cardiac muscle cell action potential	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within monoatomic ion transport	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of heart rate	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of sodium ion transport	ISO Inferred from Sequence Orthology more info
involved_in protein localization to plasma membrane	ISO Inferred from Sequence Orthology more info
involved_in regulation of atrial cardiac muscle cell membrane depolarization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of atrial cardiac muscle cell membrane depolarization	ISO Inferred from Sequence Orthology more info
involved_in regulation of heart rate by cardiac conduction	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in regulation of heart rate by cardiac conduction	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of monoatomic ion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in regulation of sodium ion transmembrane transporter activity	ISO Inferred from Sequence Orthology more info
involved_in regulation of ventricular cardiac muscle cell membrane depolarization	ISO Inferred from Sequence Orthology more info
involved_in sodium ion transmembrane transport	ISO Inferred from Sequence Orthology more info
involved_in sodium ion transport	ISO Inferred from Sequence Orthology more info
involved_in ventricular cardiac muscle cell action potential	IBA Inferred from Biological aspect of Ancestor more info	PubMed
acts_upstream_of_or_within ventricular cardiac muscle cell action potential	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ventricular cardiac muscle cell action potential	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in Z disc	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
part_of voltage-gated sodium channel complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: sodium channel subunit beta-3

Names: brain and heart 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.

mRNA and Protein(s)

NM_001083917.1 → NP_001077386.1 sodium channel subunit beta-3 isoform a precursor

See identical proteins and their annotated locations for NP_001077386.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 3' UTR, compared to variant 2. Variants 2, 3 and 5 encode the same protein (isoform a).

Source sequence(s)

BC053919, CB520894

Consensus CDS

CCDS23080.1

UniProtKB/Swiss-Prot

Q8BHK2, Q91Z99

UniProtKB/TrEMBL

A0A6P7RB82, A0A8C6HGU9, Q0P666

Related

ENSMUSP00000051627.6, ENSMUST00000049941.12

Conserved Domains (1) summary

pfam07686
Location:28 → 122

V-set; Immunoglobulin V-set domain
NM_001286614.1 → NP_001273543.1 sodium channel subunit beta-3 isoform b

Status: VALIDATED

Description

Transcript Variant: This variant (4) uses an alternate 5' splice site, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 2. It encodes isoform b, which has a shorter N-terminus, compared to isoform a.

Source sequence(s)

BC058083, BC058636, CB520894

Consensus CDS

CCDS72214.1

UniProtKB/Swiss-Prot

Q8BHK2

UniProtKB/TrEMBL

A0A8C6HJ46, H3BJR6

Related

ENSMUSP00000135096.2, ENSMUST00000176185.8

Conserved Domains (2) summary

pfam07686
Location:2 → 82

V-set; Immunoglobulin V-set domain

cd00096
Location:33 → 38

Ig; Ig strand C' [structural motif]
NM_001359700.1 → NP_001346629.1 sodium channel subunit beta-3 isoform a precursor

Status: VALIDATED

Description

Transcript Variant: This variant (5) differs in the 3' UTR, compared to variant 2. Variants 2, 3 and 5 encode the same protein (isoform a).

Source sequence(s)

AC135353, BC058636

Consensus CDS

CCDS23080.1

UniProtKB/Swiss-Prot

Q91Z99

UniProtKB/TrEMBL

A0A6P7RB82, A0A8C6HGU9, Q0P666

Conserved Domains (1) summary

pfam07686
Location:28 → 122

V-set; Immunoglobulin V-set domain
NM_178227.4 → NP_839941.1 sodium channel subunit beta-3 isoform a precursor

See identical proteins and their annotated locations for NP_839941.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) represents the longest transcript. Variants 2, 3 and 5 encode the same protein (isoform a).

Source sequence(s)

AK049747, BC053919, CB520894

Consensus CDS

CCDS23080.1

UniProtKB/Swiss-Prot

Q8BHK2, Q91Z99

UniProtKB/TrEMBL

A0A6P7RB82, A0A8C6HGU9, Q0P666

Related

ENSMUSP00000132933.3, ENSMUST00000171835.9

Conserved Domains (1) summary

pfam07686
Location:28 → 122

V-set; Immunoglobulin V-set domain

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000075.7 Reference GRCm39 C57BL/6J

Range

40180512..40202914

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_153522.2: Suppressed sequence

Description

NM_153522.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.