SCN3B

SCN3B
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 4L1D
Identifiers
Aliases	SCN3B, ATFB16, BRGDA7, HSA243396, SCNB3, sodium voltage-gated channel beta subunit 3
External IDs	OMIM: 608214 MGI: 1918882 HomoloGene: 10176 GeneCards: SCN3B
Gene location (Human) Chr. Chromosome 11 (human)[1] Band 11q24.1 Start 123,629,187 bp[1] End 123,655,244 bp[1]
Gene location (Mouse) Chr. Chromosome 9 (mouse)[2] Band 9|9 A5.1 Start 40,180,513 bp[2] End 40,202,914 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in middle temporal gyrus orbitofrontal cortex Brodmann area 46 entorhinal cortex superior frontal gyrus Region I of hippocampus proper prefrontal cortex postcentral gyrus dorsolateral prefrontal cortex Brodmann area 23 Top expressed in superior cervical ganglion Region I of hippocampus proper olfactory epithelium dentate gyrus hippocampus proper external carotid artery nucleus accumbens piriform cortex ventral tegmental area substantia nigra More reference expression data BioGPS More reference expression data
Gene ontology Molecular function sodium channel regulator activity transmembrane transporter binding sodium channel activity voltage-gated ion channel activity voltage-gated sodium channel activity involved in cardiac muscle cell action potential voltage-gated sodium channel activity sodium channel inhibitor activity Cellular component voltage-gated sodium channel complex integral component of membrane membrane plasma membrane Z disc Biological process regulation of ventricular cardiac muscle cell membrane depolarization membrane depolarization during action potential cardiac muscle contraction sodium ion transmembrane transport sodium ion transport SA node cell action potential regulation of atrial cardiac muscle cell membrane depolarization membrane depolarization ventricular cardiac muscle cell action potential regulation of ion transmembrane transport cardiac muscle cell action potential involved in contraction ion transport nervous system development positive regulation of heart rate cardiac conduction regulation of sodium ion transmembrane transporter activity atrial cardiac muscle cell action potential positive regulation of sodium ion transport sensory perception of pain protein localization to plasma membrane regulation of heart rate by cardiac conduction membrane depolarization during cardiac muscle cell action potential Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 55800 235281 Ensembl ENSG00000166257 ENSMUSG00000049281 UniProt Q9NY72 Q8BHK2 RefSeq (mRNA) NM_001040151 NM_018400 NM_001083917 NM_001286614 NM_153522 NM_178227 NM_001359700 RefSeq (protein) NP_001035241 NP_060870 NP_001077386 NP_001273543 NP_839941 NP_001346629 Location (UCSC) Chr 11: 123.63 – 123.66 Mb Chr 9: 40.18 – 40.2 Mb PubMed search [3] [4]
Wikidata
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Sodium channel subunit beta-3 is a protein that in humans is encoded by the SCN3B gene.^[5][6] Two alternatively spliced variants, encoding the same protein, have been identified.

Function

Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel beta subunit gene family, and influences the inactivation kinetics of the sodium channel.^[6]

Clinical significance

Mutations in the gene are associated with abnormal cardiac electrophysiology.^[7][8]

See also

• Sodium channel

References

Further reading

External links

• GeneReviews/NIH/NCBI/UW entry on Brugada syndrome
• SCNB3+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)

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