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

Gene ID: 6327, updated on 5-Aug-2018

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; Vega:OTTHUMG00000048248
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 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (118162804..118176622, 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

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

NHGRI 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.
NHGRI GWA Catalog

Pathways from BioSystems

  • Axon guidance, organism-specific biosystem (from REACTOME)
    Axon guidance, organism-specific biosystemAxon guidance / axon pathfinding is the process by which neurons send out axons to reach the correct targets. Growing axons have a highly motile structure at the growing tip called the growth cone, w...
  • Cardiac conduction, organism-specific biosystem (from REACTOME)
    Cardiac conduction, organism-specific biosystemThe normal sequence of contraction of atria and ventricles of the heart require activation of groups of cardiac cells. The mechanism must elicit rapid changes in heart rate and respond to changes in ...
  • Developmental Biology, organism-specific biosystem (from REACTOME)
    Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
  • Interaction between L1 and Ankyrins, organism-specific biosystem (from REACTOME)
    Interaction between L1 and Ankyrins, organism-specific biosystemAnkyrins are a family of adaptor proteins that couple membrane proteins such as voltage gated Na+ channels and the Na+/K+ anion exchanger to the spectrin actin cytoskeleton. Ankyrins are encoded by t...
  • L1CAM interactions, organism-specific biosystem (from REACTOME)
    L1CAM interactions, organism-specific biosystemThe L1 family of cell adhesion molecules (L1CAMs) are a subfamily of the immunoglobulin superfamily of transmembrane receptors, comprised of four structurally related proteins: L1, Close Homolog of L...
  • Muscle contraction, organism-specific biosystem (from REACTOME)
    Muscle contraction, organism-specific biosystemIn this module, the processes by which calcium binding triggers actin - myosin interactions and force generation in smooth and striated muscle tissues are annotated.
  • Phase 0 - rapid depolarisation, organism-specific biosystem (from REACTOME)
    Phase 0 - rapid depolarisation, organism-specific biosystemPhase 0 is the rapid depolarisation phase in which electrical stimulation of a cell initiates events involving the influx and efflux of ions resulting in the production of a cell's action potential. ...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Component Evidence Code Pubs
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
    5001..18819
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_004588.4NP_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, OTTHUMP00000045939, ENST00000278947.5, OTTHUMT00000109748
    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 Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

    Range
    118162804..118176622 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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