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

Gene ID: 6327, updated on 22-Aug-2020

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
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

Genomic context

See SCN2B in Genome Data Viewer
Location:
11q23.3
Exon count:
4
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (118162806..118176639, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (118033519..118047337, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene transmembrane serine protease 4 Neighboring gene uncharacterized LOC105369517 Neighboring gene sodium voltage-gated channel beta subunit 4 Neighboring gene junction adhesion molecule like Neighboring gene heat shock protein family E (Hsp10) member 1 pseudogene 18 Neighboring gene myelin protein zero like 3

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
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.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Component Evidence Code Pubs
synapse IEA
Inferred from Electronic Annotation
more info
 
voltage-gated sodium channel complex IDA
Inferred from Direct Assay
more info
PubMed 
voltage-gated sodium channel complex TAS
Traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
sodium channel 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)

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 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
    UniProtKB/TrEMBL
    Q5U0K8
    Related
    ENSP00000278947.5, ENST00000278947.6
    Conserved Domains (2) summary
    pfam06697
    Location:137191
    DUF1191; Protein of unknown function (DUF1191)
    cd05715
    Location:31146
    Ig_P0-like; Immunoglobulin (Ig)-like domain of Protein zero (P0) and similar proteins

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

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