Property Summary

NCBI Gene PubMed Count 51
Grant Count 97
R01 Count 59
Funding $13,756,284.94
PubMed Score 1336.54
PubTator Score 258.12

Knowledge Summary

Patent (28,400)

TINX Plot

  Disease Relevance (70)

Disease Z-score Confidence
Cancer 2,346 5.28 2.6
Erythromelalgia 8 4.106 2.1
Brugada syndrome 26 3.682 1.8
Neuropathy 210 3.513 1.8
Pain agnosia 99 3.509 1.8
Autosomal recessive spinocerebellar atax... 1  3.021 1.5
Administration of Corneal Anesthesia 6
Anesthesia for cesarean section 8
Atrial Fibrillation 110
Bipolar disorder in remission 19
Brugada Syndrome (disorder) 15
Carcinoma 2,147 1.0
Congenital Pain Insensitivity 6
Cough 21
Dysuria 24
EPISODIC PAIN SYNDROME, FAMILIAL, 2 1
Electrocardiogram: P-R interval 9
Epilepsy 346
Epilepsy characterized by intractable co... 28 
Heart Block 2
Heart conduction disease 65 2.0
Hemorrhoids 12
Hereditary Sensory Autonomic Neuropathy,... 5 
Hyperalgesia 71
Infestation by Phthirus pubis 7
Infestation by Sarcoptes scabiei var hom... 7 
Itching of skin 19
Lennox-Gastaut syndrome 34
Life-Threatening Ventricular Tachycardia 15
Local Anesthesia for Endotracheal Intuba... 6 
Local Anesthesia for Ophthalmologic Proc... 7 
Local Anesthesia for Urethral Pain 6
Local anesthesia 36
Local anesthetic intrathecal block 7
Localization-related epilepsy 13
Major Nerve Block for Surgery 8
Minor Skin Wound Pain 12
Motor cortex epilepsy 10
Mouth Irritation 12
Neuralgia 16
PAROXYSMAL EXTREME PAIN DISORDER 3
Parkinsonism 19
Partial seizure 15
Pediculosis capitis 7
Postherpetic neuralgia 12
Premature ejaculation 16
Prevent Minor Bacterial Skin Infection 10
Primary Erythermalgia 3
Pruritus ani 12
Regional Anesthesia for Labor Pain 9
Regional Anesthesia for Ophthalmologic S... 6 
Regional Anesthesia for Postoperative Pa... 9 
Regional Anesthesia for Surgery 9
Simple partial seizure 26
Skin irritation 12
Sore throat symptom 12
Spasticity 26
Suppression of the Gag Reflex 12
Tinea Infections 10
Tinea corporis 24
Tinea pedis 29
Tonic-clonic epilepsy 47
Tonic-clonic seizure 11
Urethritis 10
Urinary Tract Irritation 24
Ventricular Fibrillation 10
Ventricular arrhythmia 14
medulloblastoma, large-cell 6,234
osteosarcoma 7,933
ovarian cancer 8,484

Expression

  Differential Expression (3)

Disease log2 FC p
osteosarcoma 1.115 0.000
medulloblastoma, large-cell 1.300 0.000
ovarian cancer 1.500 0.000

Synonym

Accession Q9Y5Y9 A6NDQ1
Symbols PN3
SNS
hPN3
FEPS2
Nav1.8

Gene

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.
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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
//

Publication (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.
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