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

Gene ID: 6327, updated on 8-May-2016
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 HPRD:03208; 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]
Orthologs
Location:
11q23
Exon count:
4
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 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 protease, serine 4 Neighboring gene uncharacterized LOC105369517 Neighboring gene sodium voltage-gated channel beta subunit 4 Neighboring gene junction adhesion molecule like Neighboring gene myelin protein zero like 3

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Atrial fibrillation, familial, 14
MedGen: C3809312 OMIM: 615378 GeneReviews: Not available
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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
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  • 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)
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  • 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)
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Products Interactant Other Gene Complex Source Pubs Description

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 
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

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, OTTHUMP00000045939, ENST00000278947, OTTHUMT00000109748
    Conserved Domains (3) summary
    cd05715
    Location:31146
    Ig_P0-like; Immunoglobulin (Ig)-like domain of Protein zero (P0) and similar proteins
    smart00410
    Location:35146
    IG_like; Immunoglobulin like
    pfam14575
    Location:159199
    EphA2_TM; Ephrin type-A receptor 2 transmembrane domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p2 Primary Assembly

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

Alternate CHM1_1.1

Genomic

  1. NC_018922.2 Alternate CHM1_1.1

    Range
    117919350..117933166 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)