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SCN2B sodium voltage-gated channel beta subunit 2 [ Homo sapiens (human) ]

Gene ID: 6327, updated on 27-Nov-2024

Summary

Official Symbol
SCN2Bprovided by HGNC
Official Full Name
sodium voltage-gated channel beta subunit 2provided by HGNC
Primary source
HGNC:HGNC:10589
See related
Ensembl:ENSG00000149575 MIM:601327; AllianceGenome:HGNC:10589
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
ATFB14
Summary
The protein encoded by this gene is the beta 2 subunit of the type II voltage-gated sodium channel. The encoded protein is involved in cell-cell adhesion and cell migration. Defects in this gene can be a cause of Brugada Syndrome, atrial fibrillation, or sudden infant death syndrome. [provided by RefSeq, Jul 2015]
Expression
Biased expression in brain (RPKM 17.5), heart (RPKM 5.3) and 5 other tissues See more
Orthologs
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Genomic context

See SCN2B in Genome Data Viewer
Location:
11q23.3
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (118162806..118176639, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (118179198..118193026, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (118033521..118047354, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene transmembrane serine protease 4 Neighboring gene uncharacterized LOC105369517 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_19222 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:118000597-118001098 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:118001099-118001598 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:118014519-118015718 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5583 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3943 Neighboring gene sodium voltage-gated channel beta subunit 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:118024156-118024656 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5584 Neighboring gene Sharpr-MPRA regulatory region 10108 Neighboring gene junction adhesion molecule like Neighboring gene heat shock protein family E (Hsp10) member 1 pseudogene 18 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:118111758-118112957 Neighboring gene myelin protein zero like 3 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:118122400-118122961 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:118122962-118123522

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Atrial fibrillation, familial, 14
MedGen: C3809312 OMIM: 615378 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
Genome-wide association study of pre-eclampsia detects novel maternal single nucleotide polymorphisms and copy-number variants in subsets of the Hyperglycemia and Adverse Pregnancy Outcome (HAPO) study cohort.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in cardiac conduction IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in cardiac muscle cell action potential involved in contraction IBA
Inferred from Biological aspect of Ancestor
more info
 
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 chemical synaptic transmission TAS
Traceable Author Statement
more info
PubMed 
involved_in gene expression IEA
Inferred from Electronic Annotation
more info
 
involved_in membrane depolarization during action potential IDA
Inferred from Direct Assay
more info
PubMed 
involved_in membrane depolarization during cardiac muscle cell action potential IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in membrane depolarization during cardiac muscle cell action potential IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in membrane repolarization during ventricular cardiac muscle cell action potential IEA
Inferred from Electronic Annotation
more info
 
involved_in nervous system development IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of sodium ion transport IDA
Inferred from Direct Assay
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 IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in response to heat IEA
Inferred from Electronic Annotation
more info
 
involved_in response to pyrethroid IEA
Inferred from Electronic Annotation
more info
 
involved_in sodium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in T-tubule IEA
Inferred from Electronic Annotation
more info
 
located_in axon initial segment IEA
Inferred from Electronic Annotation
more info
 
located_in node of Ranvier IEA
Inferred from Electronic Annotation
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
is_active_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in synapse IEA
Inferred from Electronic Annotation
more info
 
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

Preferred Names
sodium channel regulatory subunit beta-2
Names
neuronal voltage-gated sodium channel beta 2 subunit
sodium channel, voltage gated, type II beta subunit
sodium channel, voltage-gated, type II, beta polypeptide

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

  1. NG_042217.1 RefSeqGene

    Range
    4984..18817
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_004588.5NP_004579.1  sodium channel regulatory subunit beta-2 precursor

    See identical proteins and their annotated locations for NP_004579.1

    Status: REVIEWED

    Source sequence(s)
    AP002800, BC036793, DA290917
    Consensus CDS
    CCDS8390.1
    UniProtKB/Swiss-Prot
    O60939, O75302, Q9UNN3
    UniProtKB/TrEMBL
    Q5U0K8
    Related
    ENSP00000278947.5, ENST00000278947.6
    Conserved Domains (1) summary
    cd05715
    Location:30146
    IgV_P0-like; Immunoglobulin (Ig)-like domain of protein zero (P0) and similar proteins

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    118162806..118176639 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    118179198..118193026 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)