Property Summary

NCBI Gene PubMed Count 35
PubMed Score 9.44
PubTator Score 7.02

Knowledge Summary

Patent (692)

Expression

  Differential Expression (16)

Disease log2 FC p
astrocytoma -3.300 3.8e-03
psoriasis -1.600 2.7e-03
glioblastoma -3.800 8.9e-05
oligodendroglioma -2.200 3.9e-11
osteosarcoma 1.467 3.6e-03
posterior fossa group A ependymoma -5.000 2.9e-16
sonic hedgehog group medulloblastoma -3.100 1.7e-03
atypical teratoid / rhabdoid tumor -4.800 5.6e-09
medulloblastoma, large-cell -3.100 3.8e-03
lung cancer 1.600 3.2e-03
pediatric high grade glioma -3.600 5.6e-06
pilocytic astrocytoma -4.500 2.2e-09
lung carcinoma 2.000 5.8e-28
Pick disease -2.300 6.4e-03
ovarian cancer -1.200 3.0e-06
pituitary cancer 1.400 6.7e-04

Gene RIF (18)

PMID Text
26179811 Contribution of Cardiac Sodium Channel beta-Subunit Variants to Brugada Syndrome.
25757662 In a nonreferred nationwide Danish cohort of SIDS cases, up to 5/66 (7.5%) of SIDS cases can be explained by genetic variants in the sodium channel complex genes.
25443231 SCN1-3B the gene that encode respectively a- and b-subunits of the cardiac fast voltage-gated sodium channel, have been linked to atrial fibrillation.
23257389 The Val110Ile mutation of SCN3B is a relatively common cause of SCN5A-negative BrS in Japan, which has a reduced sodium current because of the loss of cell surface expression of Nav1.5.
23118027 the beta3 subunit can mediate trans homophilic-binding via its Ig domain and the beta3-Ig domain can associate heterophilically with the beta1 subunit
21051419 three mutations in SCN3B were investigated electrophysiologically and all led to loss of function in the sodium current, supporting the hypothesis that decreased sodium current enhances atrial fibrillation susceptibility
21051419 Observational study of gene-disease association. (HuGE Navigator)
20675377 The sodium channel {beta}3-subunit induces multiphasic gating in NaV1.3 and affects fast inactivation via distinct intracellular regions.
20558140 This study identifies the first atrial fibrillation(AF) -associated mutation in SCN3B, and suggests that mutations in SCN3B may be a new pathogenic cause of AF.
20558140 Observational study of gene-disease association. (HuGE Navigator)
20226894 The researchers found evidence of an association between SCN3B subunit mutations and sudden infant death syndrome pathogenesis.
20226894 Observational study of gene-disease association. (HuGE Navigator)
20042427 Study provides molecular and cellular evidence implicating mutations in SCN3B as a cause of idiopathic ventricular fibrillation.
19808477 Observational study of gene-disease association. (HuGE Navigator)
19596049 beta3 does not participate in trans homophilic cell-cell adhesion or associate with contactin.
19385982 In patients with temporal lobe epilepsy, Na(v)beta3 levels were dramatically reduced in the hippocampus, but not in the cortex of non-hippocampal sclerosis patients when compared to hippocampal sclerosis patients.
16415175 Observational study of gene-disease association. (HuGE Navigator)
15334053 SCN3B mediates a p53-dependent apoptotic pathway and may be a candidate for gene therapy combined with anticancer drugs.

AA Sequence

MPAFNRLFPLASLVLIYWVSVCFPVCVEVPSETEAVQGNPMKLRCISCMKREEVEATTVVEWFYRPEGGK      1 - 70
DFLIYEYRNGHQEVESPFQGRLQWNGSKDLQDVSITVLNVTLNDSGLYTCNVSREFEFEAHRPFVKTTRL     71 - 140
IPLRVTEEAGEDFTSVVSEIMMYILLVFLTLWLLIEMIYCYRKVSKAEEAAQENASDYLAIPSENKENSA    141 - 210
VPVEE                                                                     211 - 215
//

Text Mined References (35)

PMID Year Title
26179811 2015 Contribution of Cardiac Sodium Channel ?-Subunit Variants to Brugada Syndrome.
25757662 2015 The role of the sodium current complex in a nonreferred nationwide cohort of sudden infant death syndrome.
25443231 2014 Risk factors and genetics of atrial fibrillation.
24292274 2014 A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia.
23770605 2013 Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia.
23257389 2013 Novel SCN3B mutation associated with brugada syndrome affects intracellular trafficking and function of Nav1.5.
23118027 2013 The immunoglobulin domain of the sodium channel ?3 subunit contains a surface-localized disulfide bond that is required for homophilic binding.
21895525 2011 Multiple arrhythmic syndromes in a newborn, owing to a novel mutation in SCN5A.
21051419 2011 Mutations in sodium channel ?-subunit SCN3B are associated with early-onset lone atrial fibrillation.
20675377 2010 The sodium channel {beta}3-subunit induces multiphasic gating in NaV1.3 and affects fast inactivation via distinct intracellular regions.
20558140 2010 Functional dominant-negative mutation of sodium channel subunit gene SCN3B associated with atrial fibrillation in a Chinese GeneID population.
20226894 2010 Sudden infant death syndrome-associated mutations in the sodium channel beta subunits.
20042427 2010 Loss-of-function mutation of the SCN3B-encoded sodium channel {beta}3 subunit associated with a case of idiopathic ventricular fibrillation.
19808477 2009 Mutations in sodium channel ?1- and ?2-subunits associated with atrial fibrillation.
19596049 2009 The voltage-gated Na+ channel beta3 subunit does not mediate trans homophilic cell adhesion or associate with the cell adhesion molecule contactin.
19385982 2009 Hippocampal Nabeta3 expression in patients with temporal lobe epilepsy.
16959974 2006 The consensus coding sequences of human breast and colorectal cancers.
16415175 2006 High throughput SNP and expression analyses of candidate genes for non-syndromic oral clefts.
16381901 2006 The LIFEdb database in 2006.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15489336 2004 From ORFeome to biology: a functional genomics pipeline.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15342556 2004 Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions.
15334053 2004 Identification of SCN3B as a novel p53-inducible proapoptotic gene.
15232296 2004 Expression of the sodium channel beta3 subunit in injured human sensory neurons.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12220575 2002 Functional modulation of human brain Nav1.3 sodium channels, expressed in mammalian cells, by auxiliary beta 1, beta 2 and beta 3 subunits.
11470829 2001 Sodium channel beta1 and beta3 subunits associate with neurofascin through their extracellular immunoglobulin-like domain.
11256614 2000 Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing.
11230166 2001 Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs.
11212211 2001 Tissue distribution and functional expression of the human voltage-gated sodium channel beta3 subunit.
11076863 2000 DNA cloning using in vitro site-specific recombination.
10688874 2000 beta 3: an additional auxiliary subunit of the voltage-sensitive sodium channel that modulates channel gating with distinct kinetics.
10574461 1999 Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain.