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; OMA:SCN3B - orthologs
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 dentate gyrus of hippocampal formation granule cell nucleus accumbens piriform cortex ventral tegmental area 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 discdkac 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
View/Edit Human View/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

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

1. GRCh38: Ensembl release 89: ENSG00000166257 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000049281 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
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. Bibcode:2000PNAS...97.2308M. doi: 10.1073/pnas.030362197 . PMC   15797 . PMID   10688874.
6. "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

• 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. doi: 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

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

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