Property Summary

NCBI Gene PubMed Count 51
PubMed Score 1336.54
PubTator Score 258.12

Knowledge Summary

Patent (28,400)

TINX Plot

  Disease (7)

Disease Target Count P-value
ovarian cancer 8491 8.6e-10
osteosarcoma 7933 1.2e-06
medulloblastoma, large-cell 6234 1.4e-05
Disease Target Count Z-score Confidence
Carcinoma 2147 0.0 1.0
Disease Target Count Z-score Confidence
Heart conduction disease 65 0.0 2.0

Expression

  Differential Expression (3)

Disease log2 FC p
osteosarcoma 1.115 1.2e-06
medulloblastoma, large-cell 1.300 1.4e-05
ovarian cancer 1.500 8.6e-10

Gene RIF (39)

PMID Text
26740675 SCN10A genetic variation substantially influences functional status in patients with multiple sclerosis.
26104176 The rs6795970 in the SCN10A gene, which is reported to carry a high risk of heart block, might be associated with cardiac conduction abnormalities in Hypertrophic Cardiomyopathy patients.
25998140 SCN10A gene mutations that reduce sodium channel current may provide a mechanistic link between Atrioventricular nodal reentrant tachycardia and Brugada syndrome and predispose to expression of both phenotypes.
25787950 The results demonstrate distinct properties of human Na(v)1.8, which contribute to the firing properties of human DRG neurons.
25691686 study suggests that SCN10A variations are involved in the genesis of AF.
25691538 The common SNP SCN10A V1073 was strongly associated with Brugada syndrome and demonstrated loss of NaV1.8 function, as did rare variants in isolated patients.
25053638 Rare SCN10A variants may contribute to atrial fibrillation susceptibility.
24998131 As a major susceptibility gene for Brugada syndrome (BrS), SCN10A greatly enhances the genotyping and risk stratifying of probands and BrS family members.
24763188 A novel splice variant of SCN10A lacking exon 11 was found in human but not detected in mouse or rat.
24642470 SCN10A variant rs6801957, which correlated with slowed cardiac conduction, was associated with reduced SCN5A expression.
24360055 A single-nucleotide polymorphism (SNP) associated with alterations in cardiac conduction patterns affects the transcriptional regulation of the sodium channel genes, SCN5A and SCN10A, predisposing for cardiac arrhythmias.
24144460 The results demonstrate that Nav1.8 and Nav1.9 are present in human lingual nerve neuromas, with significant correlations between the level of expression of Nav1.8 and symptoms of pain.
24086692 Results verify that the Na+ channel Na v1.8 is present in human sperm cells and participates in the regulation of sperm function.
24072447 SCN10A SNPs modulate PR interval and heart rate response during atrial fibrillation.
24006052 This study reports a mutation of NaV1.8 which impairs inactivation, in patients with painful idiopathic small fibre neuropathy.
23986244 I1706V mutation associated with small-fiber neuropathy decreases current threshold and increases the firing frequency of evoked action potentials within small DRG neurons.
23872634 Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death.
23115331 Mutations of Na(v)1.8 contribute to painful peripheral neuropathy.
23047628 Single nucleotide polymorphism of TRPV1 315G>C, rs5981521 of pri-miR-325 and SCN10A is related to the development of functional dyspepsia. This involvement differed between Helicobater pylori-positive and -negative patients.
22618805 We found that SCN10A 3218 CC homozygosity with the 2884 G and 3275 C alleles was significantly associated with a reduced risk for the development of functional dyspepsia.
21646736 sodium channel Na(v)1.8 is present in sensory nerves and cardiomyocytes of human heart
21076409 Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator)
21041692 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
20720009 Transmembrane segments prevent surface expression of sodium channel Nav1.8 and promote calnexin-dependent channel degradation
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20237269 Ret-Na(v)1.8 conditional knockout mice have increased sensitivity to cold and increased formalin-induced pain, demonstrating that Ret signaling modulates the function of nociceptors in vivo.
20062063 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
20062061 SCN10A is expressed in mouse and human heart tissue and that PR interval is shorter in Scn10a(-/-) mice than in wild-type mice.
20062061 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
20062060 Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator)
20018876 Aquaporin-1 tunes pain perception by interaction with Na(v)1.8 Na+ channels in dorsal root ganglion neurons.
19953341 Data describe alternative splicing in a NAGNAG tandem acceptor in SCN10A that results in isoforms including/lacking glutamine 1030, which is conserved among rodents and humans but its alternative usage apparently occurs with species-specific abundance.
19877286 Nav1.8 downregulation may be one of the pathophysiological mechanisms involved in limb lengthening-induced neuropathy.
19699781 In trigeminal neuralgia (TN) there is a reduction in the expression of Nav1.7 and an increase in the expression of Nav1.3, Nav1.8 expression not significantly different; TN can be, at least in part, a channelopathy.
19563686 activation of NK-1 receptor potentiates Na(v)1.8 sodium current via PKCepsilon-dependent signaling pathway, probably participating in the generation of inflammatory hyperalgesia
19233853 Data suggest differing, but partially overlapping, areas of binding of A-803467 and tetracaine in the Na(V)1.8 sodium channel.
19164297 Chimeras containing the N-terminal half of Na(v)1.8 exhibited a large response similar to wild-type Na(v)1.8, indicating that the region conferring high sensitivity to ciguatoxin action is located in the D1 or D2 domains.
16598065 calmodulin associates with a sodium channel, Nav1.8, in native neurons, and demonstrates a regulation of Nav1.8 currents that can significantly affect electrogenesis of DRG neurons in which Nav1.8 is normally expressed
16506887 A high capacity assay is sensitive to known state-dependent NaV1 modulators and can be used to identify novel and selective inhibitors.

AA Sequence

MEFPIGSLETNNFRRFTPESLVEIEKQIAAKQGTKKAREKHREQKDQEEKPRPQLDLKACNQLPKFYGEL      1 - 70
PAELIGEPLEDLDPFYSTHRTFMVLNKGRTISRFSATRALWLFSPFNLIRRTAIKVSVHSWFSLFITVTI     71 - 140
LVNCVCMTRTDLPEKIEYVFTVIYTFEALIKILARGFCLNEFTYLRDPWNWLDFSVITLAYVGTAIDLRG    141 - 210
ISGLRTFRVLRALKTVSVIPGLKVIVGALIHSVKKLADVTILTIFCLSVFALVGLQLFKGNLKNKCVKND    211 - 280
MAVNETTNYSSHRKPDIYINKRGTSDPLLCGNGSDSGHCPDGYICLKTSDNPDFNYTSFDSFAWAFLSLF    281 - 350
RLMTQDSWERLYQQTLRTSGKIYMIFFVLVIFLGSFYLVNLILAVVTMAYEEQNQATTDEIEAKEKKFQE    351 - 420
ALEMLRKEQEVLAALGIDTTSLHSHNGSPLTSKNASERRHRIKPRVSEGSTEDNKSPRSDPYNQRRMSFL    421 - 490
GLASGKRRASHGSVFHFRSPGRDISLPEGVTDDGVFPGDHESHRGSLLLGGGAGQQGPLPRSPLPQPSNP    491 - 560
DSRHGEDEHQPPPTSELAPGAVDVSAFDAGQKKTFLSAEYLDEPFRAQRAMSVVSIITSVLEELEESEQK    561 - 630
CPPCLTSLSQKYLIWDCCPMWVKLKTILFGLVTDPFAELTITLCIVVNTIFMAMEHHGMSPTFEAMLQIG    631 - 700
NIVFTIFFTAEMVFKIIAFDPYYYFQKKWNIFDCIIVTVSLLELGVAKKGSLSVLRSFRLLRVFKLAKSW    701 - 770
PTLNTLIKIIGNSVGALGNLTIILAIIVFVFALVGKQLLGENYRNNRKNISAPHEDWPRWHMHDFFHSFL    771 - 840
IVFRILCGEWIENMWACMEVGQKSICLILFLTVMVLGNLVVLNLFIALLLNSFSADNLTAPEDDGEVNNL    841 - 910
QVALARIQVFGHRTKQALCSFFSRSCPFPQPKAEPELVVKLPLSSSKAENHIAANTARGSSGGLQAPRGP    911 - 980
RDEHSDFIANPTVWVSVPIAEGESDLDDLEDDGGEDAQSFQQEVIPKGQQEQLQQVERCGDHLTPRSPGT    981 - 1050
GTSSEDLAPSLGETWKDESVPQVPAEGVDDTSSSEGSTVDCLDPEEILRKIPELADDLEEPDDCFTEGCI   1051 - 1120
RHCPCCKLDTTKSPWDVGWQVRKTCYRIVEHSWFESFIIFMILLSSGSLAFEDYYLDQKPTVKALLEYTD   1121 - 1190
RVFTFIFVFEMLLKWVAYGFKKYFTNAWCWLDFLIVNISLISLTAKILEYSEVAPIKALRTLRALRPLRA   1191 - 1260
LSRFEGMRVVVDALVGAIPSIMNVLLVCLIFWLIFSIMGVNLFAGKFWRCINYTDGEFSLVPLSIVNNKS   1261 - 1330
DCKIQNSTGSFFWVNVKVNFDNVAMGYLALLQVATFKGWMDIMYAAVDSREVNMQPKWEDNVYMYLYFVI   1331 - 1400
FIIFGGFFTLNLFVGVIIDNFNQQKKKLGGQDIFMTEEQKKYYNAMKKLGSKKPQKPIPRPLNKFQGFVF   1401 - 1470
DIVTRQAFDITIMVLICLNMITMMVETDDQSEEKTKILGKINQFFVAVFTGECVMKMFALRQYYFTNGWN   1471 - 1540
VFDFIVVVLSIASLIFSAILKSLQSYFSPTLFRVIRLARIGRILRLIRAAKGIRTLLFALMMSLPALFNI   1541 - 1610
GLLLFLVMFIYSIFGMSSFPHVRWEAGIDDMFNFQTFANSMLCLFQITTSAGWDGLLSPILNTGPPYCDP   1611 - 1680
NLPNSNGTRGDCGSPAVGIIFFTTYIIISFLIMVNMYIAVILENFNVATEESTEPLSEDDFDMFYETWEK   1681 - 1750
FDPEATQFITFSALSDFADTLSGPLRIPKPNRNILIQMDLPLVPGDKIHCLDILFAFTKNVLGESGELDS   1751 - 1820
LKANMEEKFMATNLSKSSYEPIATTLRWKQEDISATVIQKAYRSYVLHRSMALSNTPCVPRAEEEAASLP   1821 - 1890
DEGFVAFTANENCVLPDKSETASATSFPPSYESVTRGLSDRVNMRTSSSIQNEDEATSMELIAPGP       1891 - 1956
//

Text Mined References (53)

PMID Year Title
26740675 2016 Channelopathy-related SCN10A gene variants predict cerebellar dysfunction in multiple sclerosis.
26104176 2015 Association Between Genetic Variation in the SCN10A Gene and Cardiac Conduction Abnormalities in Patients With Hypertrophic Cardiomyopathy.
25998140 2015 High prevalence of concealed Brugada syndrome in patients with atrioventricular nodal reentrant tachycardia.
25787950 2015 Human Na(v)1.8: enhanced persistent and ramp currents contribute to distinct firing properties of human DRG neurons.
25691686 2015 Common and rare variants in SCN10A modulate the risk of atrial fibrillation.
25691538 2015 Role of common and rare variants in SCN10A: results from the Brugada syndrome QRS locus gene discovery collaborative study.
25055868 2014 Genome-wide association study of electrocardiographic parameters identifies a new association for PR interval and confirms previously reported associations.
25053638 2014 SCN10A/Nav1.8 modulation of peak and late sodium currents in patients with early onset atrial fibrillation.
25035420 2014 Identification of three novel genetic variations associated with electrocardiographic traits (QRS duration and PR interval) in East Asians.
24998131 2014 Mutations in SCN10A are responsible for a large fraction of cases of Brugada syndrome.
24952745 2014 Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.
24850809 2014 Genetic determinants of P wave duration and PR segment.
24763188 2014 Exon 11 skipping of SCN10A coding for voltage-gated sodium channels in dorsal root ganglia.
24642470 2014 A common genetic variant within SCN10A modulates cardiac SCN5A expression.
24360055 2014 From GWAS to function: genetic variation in sodium channel gene enhancer influences electrical patterning.
24144460 2013 Correlation of Nav1.8 and Nav1.9 sodium channel expression with neuropathic pain in human subjects with lingual nerve neuromas.
24086692 2013 The voltage-gated sodium channel nav1.8 is expressed in human sperm.
24072447 2014 Common SCN10A variants modulate PR interval and heart rate response during atrial fibrillation.
24006052 2014 The G1662S NaV1.8 mutation in small fibre neuropathy: impaired inactivation underlying DRG neuron hyperexcitability.
23986244 2013 Small-fiber neuropathy Nav1.8 mutation shifts activation to hyperpolarized potentials and increases excitability of dorsal root ganglion neurons.
23872634 2013 Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death.
23463857 2013 Genome- and phenome-wide analyses of cardiac conduction identifies markers of arrhythmia risk.
23273568 2013 Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians.
23139255 2012 Novel loci associated with PR interval in a genome-wide association study of 10 African American cohorts.
23115331 2012 Gain-of-function Nav1.8 mutations in painful neuropathy.
23047628 2012 [Association between genetic variations and functional dyspepsia].
22618805 2013 Genetic polymorphisms of SCN10A are associated with functional dyspepsia in Japanese subjects.
21646736 2011 Localisation of SCN10A gene product Na(v)1.8 and novel pain-related ion channels in human heart.
21347284 2011 Genome-wide association studies of the PR interval in African Americans.
21248752 2011 Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma.
21076409 2010 Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction.
21041692 2010 Identification of genomic predictors of atrioventricular conduction: using electronic medical records as a tool for genome science.
20720009 2010 Transmembrane segments prevent surface expression of sodium channel Nav1.8 and promote calnexin-dependent channel degradation.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20237269 2010 RET signaling is required for survival and normal function of nonpeptidergic nociceptors.
20062063 2010 Several common variants modulate heart rate, PR interval and QRS duration.
20062061 2010 Genetic variation in SCN10A influences cardiac conduction.
20062060 2010 Genome-wide association study of PR interval.
20018876 2010 Aquaporin-1 tunes pain perception by interaction with Na(v)1.8 Na+ channels in dorsal root ganglion neurons.
19953341 2010 A subtle alternative splicing event of the Na(V)1.8 voltage-gated sodium channel is conserved in human, rat, and mouse.
19877286 2010 Altered expression of sodium channel distribution in the dorsal root ganglion after gradual elongation of rat sciatic nerves.
19699781 2009 Abnormal expression of voltage-gated sodium channels Nav1.7, Nav1.3 and Nav1.8 in trigeminal neuralgia.
19563686 2009 PKCepsilon-dependent potentiation of TTX-resistant Nav1.8 current by neurokinin-1 receptor activation in rat dorsal root ganglion neurons.
19233853 2009 Structural determinants of drugs acting on the Nav1.8 channel.
19164297 2009 Synthetic ciguatoxins selectively activate Nav1.8-derived chimeric sodium channels expressed in HEK293 cells.
19056867 2009 Large-scale proteomics and phosphoproteomics of urinary exosomes.
16641997 2006 The DNA sequence, annotation and analysis of human chromosome 3.
16598065 2006 Calmodulin regulates current density and frequency-dependent inhibition of sodium channel Nav1.8 in DRG neurons.
16506887 2006 A high-capacity membrane potential FRET-based assay for NaV1.8 channels.
16382098 2005 International Union of Pharmacology. XLVII. Nomenclature and structure-function relationships of voltage-gated sodium channels.
12591166 2003 Sensory neuron proteins interact with the intracellular domains of sodium channel NaV1.8.
10198179 1999 Evolution and diversity of mammalian sodium channel genes.
9839820 1998 A tetrodotoxin-resistant voltage-gated sodium channel from human dorsal root ganglia, hPN3/SCN10A.