SCN3B

From Wikipedia, the free encyclopedia
Jump to navigation Jump to search
SCN3B
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesSCN3B, ATFB16, BRGDA7, HSA243396, SCNB3, sodium voltage-gated channel beta subunit 3
External IDsMGI: 1918882 HomoloGene: 10176 GeneCards: SCN3B
Gene location (Human)
Chromosome 11 (human)
Chr.Chromosome 11 (human)[1]
Chromosome 11 (human)
Genomic location for SCN3B
Genomic location for SCN3B
Band11q24.1Start123,629,187 bp[1]
End123,655,244 bp[1]
RNA expression pattern
PBB GE SCN3B 204722 at fs.png

PBB GE SCN3B 204723 at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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 MbChr 9: 40.27 – 40.29 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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[edit]

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[edit]

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

See also[edit]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000166257 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000049281 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:".
  4. ^ "Mouse PubMed Reference:".
  5. ^ Morgan K, Stevens EB, Shah B, Cox PJ, Dixon AK, Lee K, Pinnock RD, Hughes J, Richardson PJ, Mizuguchi K, Jackson AP (Apr 2000). "β3: An additional auxiliary subunit of the voltage-sensitive sodium channel that modulates channel gating with distinct kinetics". Proc Natl Acad Sci U S A. 97 (5): 2308–13. doi:10.1073/pnas.030362197. PMC 15797. PMID 10688874.
  6. ^ a b "Entrez Gene: SCN3B sodium channel, voltage-gated, type III, beta".
  7. ^ Hakim P, Gurung IS, Pedersen TH, Thresher R, Brice N, Lawrence J, Grace AA, Huang CL (2008). "Scn3b knockout mice exhibit abnormal ventricular electrophysiological properties". Prog. Biophys. Mol. Biol. 98 (2–3): 251–66. doi:10.1016/j.pbiomolbio.2009.01.005. PMC 2764399. PMID 19351516.
  8. ^ Hakim P, Brice N, Thresher R, Lawrence J, Zhang Y, Jackson AP, Grace AA, Huang CL (January 2010). "Scn3b knockout mice exhibit abnormal sino-atrial and cardiac conduction properties". Acta Physiol (Oxf). 198 (1): 47–59. doi:10.1111/j.1748-1716.2009.02048.x. PMC 3763209. PMID 19796257.

Further reading[edit]

External links[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.