From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
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
References
^
a
b
c
GRCh38: Ensembl release 89: ENSG00000166257 –
Ensembl , May 2017
^
a
b
c
GRCm38: Ensembl release 89: ENSMUSG00000049281 –
Ensembl , May 2017
^
"Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^
"Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^ 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.
Bibcode :
2000PNAS...97.2308M .
doi :
10.1073/pnas.030362197 .
PMC
15797 .
PMID
10688874 .
^
a
b
"Entrez Gene: SCN3B sodium channel, voltage-gated, type III, beta" .
^ 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 .
^ 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
Hirosawa M, Nagase T, Ishikawa K, et al. (2000).
"Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain" . DNA Res . 6 (5): 329–36.
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10.1093/dnares/6.5.329 .
PMID
10574461 .
Hartley JL, Temple GF, Brasch MA (2001).
"DNA Cloning Using In Vitro Site-Specific Recombination" . Genome Res . 10 (11): 1788–95.
doi :
10.1101/gr.143000 .
PMC
310948 .
PMID
11076863 .
Stevens EB, Cox PJ, Shah BS, et al. (2001). "Tissue distribution and functional expression of the human voltage-gated sodium channel beta3 subunit". Pflügers Arch . 441 (4): 481–8.
doi :
10.1007/s004240000449 .
PMID
11212211 .
S2CID
25170955 .
Wiemann S, Weil B, Wellenreuther R, et al. (2001).
"Toward a Catalog of Human Genes and Proteins: Sequencing and Analysis of 500 Novel Complete Protein Coding Human cDNAs" . Genome Res . 11 (3): 422–35.
doi :
10.1101/gr.GR1547R .
PMC
311072 .
PMID
11230166 .
Simpson JC, Wellenreuther R, Poustka A, et al. (2001).
"Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing" . EMBO Rep . 1 (3): 287–92.
doi :
10.1093/embo-reports/kvd058 .
PMC
1083732 .
PMID
11256614 .
Ratcliffe CF, Westenbroek RE, Curtis R, Catterall WA (2001).
"Sodium channel β1 and β3 subunits associate with neurofascin through their extracellular immunoglobulin-like domain" . J. Cell Biol . 154 (2): 427–34.
doi :
10.1083/jcb.200102086 .
PMC
2150779 .
PMID
11470829 .
Meadows LS, Chen YH, Powell AJ, et al. (2002). "Functional modulation of human brain Nav1.3 sodium channels, expressed in mammalian cells, by auxiliary beta 1, beta 2 and beta 3 subunits". Neuroscience . 114 (3): 745–53.
doi :
10.1016/S0306-4522(02)00242-7 .
PMID
12220575 .
S2CID
54320603 .
Strausberg RL, Feingold EA, Grouse LH, et al. (2003).
"Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences" . Proc. Natl. Acad. Sci. U.S.A . 99 (26): 16899–903.
Bibcode :
2002PNAS...9916899M .
doi :
10.1073/pnas.242603899 .
PMC
139241 .
PMID
12477932 .
Ota T, Suzuki Y, Nishikawa T, et al. (2004).
"Complete sequencing and characterization of 21,243 full-length human cDNAs" . Nat. Genet . 36 (1): 40–5.
doi :
10.1038/ng1285 .
PMID
14702039 .
Casula MA, Facer P, Powell AJ, et al. (2004). "Expression of the sodium channel beta3 subunit in injured human sensory neurons". NeuroReport . 15 (10): 1629–32.
doi :
10.1097/01.wnr.0000134927.02776.ae .
PMID
15232296 .
S2CID
26263724 .
Adachi K, Toyota M, Sasaki Y, et al. (2004). "Identification of SCN3B as a novel p53-inducible proapoptotic gene". Oncogene . 23 (47): 7791–8.
doi :
10.1038/sj.onc.1208067 .
PMID
15334053 .
S2CID
25309274 .
Suzuki Y, Yamashita R, Shirota M, et al. (2004).
"Sequence Comparison of Human and Mouse Genes Reveals a Homologous Block Structure in the Promoter Regions" . Genome Res . 14 (9): 1711–8.
doi :
10.1101/gr.2435604 .
PMC
515316 .
PMID
15342556 .
Gerhard DS, Wagner L, Feingold EA, et al. (2004).
"The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)" . Genome Res . 14 (10B): 2121–7.
doi :
10.1101/gr.2596504 .
PMC
528928 .
PMID
15489334 .
Wiemann S, Arlt D, Huber W, et al. (2004).
"From ORFeome to Biology: A Functional Genomics Pipeline" . Genome Res . 14 (10B): 2136–44.
doi :
10.1101/gr.2576704 .
PMC
528930 .
PMID
15489336 .
Kimura K, Wakamatsu A, Suzuki Y, et al. (2006).
"Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes" . Genome Res . 16 (1): 55–65.
doi :
10.1101/gr.4039406 .
PMC
1356129 .
PMID
16344560 .
Mehrle A, Rosenfelder H, Schupp I, et al. (2006).
"The LIFEdb database in 2006" . Nucleic Acids Res . 34 (Database issue): D415–8.
doi :
10.1093/nar/gkj139 .
PMC
1347501 .
PMID
16381901 .
Hakim P, Gurung IS, Pedersen TH, et al. (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 .
External links
This article incorporates text from the
United States National Library of Medicine , which is in the
public domain .