Property Summary

NCBI Gene PubMed Count 25
Grant Count 24
R01 Count 18
Funding $1,850,369.73
PubMed Score 73.72
PubTator Score 50.71

Knowledge Summary

Patent (10,209)

TINX Plot

  Disease Relevance (78)

Disease Z-score Confidence
Epilepsy 346 4.673 2.3
Administration of Corneal Anesthesia 6
Administration of Local Anesthetic Nerve... 14 
Administration of Regional Anesthesia 7
Anesthesia for cesarean section 8
Atrial Fibrillation 110
Bipolar disorder in remission 19
Breast cancer 3,094
Carcinoma 2,147 1.0
Cardioversion of Atrial Fibrillation 9
Chronic Lymphocytic Leukemia 242
Cough 21
Dysuria 24
Epilepsy characterized by intractable co... 28 
Epilepsy, Complex Partial 1
Hemorrhoids 13
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 40
Local anesthesia, by infiltration 14
Local anesthetic intrathecal block 7
Localization-related epilepsy 13
Major Nerve Block for Surgery 8
Malaria 140
Minor Skin Wound Pain 12
Motor cortex epilepsy 10
Mouth Irritation 12
Neuralgia 16
Partial seizure 15
Pediculosis capitis 7
Postherpetic neuralgia 12
Premature ejaculation 16
Prevent Minor Bacterial Skin Infection 10
Prevention of Seizures following Cranial... 7 
Pruritus ani 14
Pseudobulbar affect 5
Regional Anesthesia for Labor Pain 9
Regional Anesthesia for Ophthalmologic S... 6 
Regional Anesthesia for Postoperative Pa... 9 
Regional Anesthesia for Surgery 9
Seizures in Neurosurgery 7
Simple partial seizure 26
Skin irritation 12
Sore throat symptom 12
Status Epilepticus 85
Suppression of the Gag Reflex 12
Tinea Infections 10
Tinea corporis 25
Tinea pedis 30
Tonic-clonic epilepsy 47
Tonic-clonic seizure 11
Urethritis 10
Urinary Tract Irritation 24
Ventricular arrhythmia 14
Waldenstrons macroglobulinemia 765
breast carcinoma 1,614
colon cancer 1,475
glioblastoma 5,572
interstitial cystitis 2,299
invasive ductal carcinoma 2,950
lung adenocarcinoma 2,713
lung cancer 4,466
lung carcinoma 2,844
malignant mesothelioma 3,162
medulloblastoma 1,524
medulloblastoma, large-cell 6,234
osteosarcoma 7,933
posterior fossa group B ependymoma 1,530
primary Sjogren syndrome 789
psoriasis 6,685
severe Alzheimer's disease 49
tuberculosis and treatment for 3 months 327

Expression

  Differential Expression (20)

Disease log2 FC p
Waldenstrons macroglobulinemia -3.478 0.000
Chronic Lymphocytic Leukemia -3.502 0.000
malignant mesothelioma 2.100 0.000
psoriasis -1.600 0.007
osteosarcoma -3.138 0.001
posterior fossa group B ependymoma -2.800 0.000
medulloblastoma -1.800 0.045
glioblastoma -2.300 0.031
medulloblastoma, large-cell -2.600 0.001
tuberculosis and treatment for 3 months 1.500 0.019
colon cancer -2.200 0.000
lung cancer 1.400 0.011
interstitial cystitis 2.000 0.001
primary Sjogren syndrome 1.100 0.003
lung adenocarcinoma 1.500 0.000
severe Alzheimer's disease -1.112 0.039
lung carcinoma 4.500 0.000
breast carcinoma -1.300 0.000
Breast cancer -2.400 0.000
invasive ductal carcinoma -1.500 0.008

Gene RIF (14)

PMID Text
24337656 sodium channel polymorphisms are associated with epilepsy
24157691 Discovery of a common biophysical defect among variants identified in unrelated pediatric epilepsy patients suggests that SCN3A may contribute to neuronal hyperexcitability and epilepsy.
23965409 the time course of declining expression of the murine embryonic sodium channel Nav 1.3 and the rise in expression of the adult sodium channel Nav 1.1 with susceptibility to epileptic seizures and increased incidence of sudden death
23859570 Our data from the Hong Kong and Malaysia cohorts showed no significant allele, genotype and haplotype association of polymorphisms in the SCN1A, SCN2A, and SCN3A genes with drug responsiveness in epilepsy.
23333304 HIV-1 Vif downregulates the expression of sodium channel, voltage-gated, type III, alpha subunit (SCN3A) in Vif-expression T cells
23016767 This study demonistrated that associated with a duplication of the SCN2A and SCN3A gene cluster on 2q24 in patient with early onset epilepsy.
22494998 Upregulation of Nav1.3 protein and a specific cellular distribution of Nav1.3 proteins in focal cortical dysplasia type IIb(FCDIIb) lesion tissue samples suggest that Nav1.3 may be involved in the generation of epileptic activity in FCDIIb.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20346423 Deletions in SCN3A gene is associated with autistic features and developmental delay.
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.
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AA Sequence

MAQALLVPPGPESFRLFTRESLAAIEKRAAEEKAKKPKKEQDNDDENKPKPNSDLEAGKNLPFIYGDIPP      1 - 70
EMVSEPLEDLDPYYINKKTFIVMNKGKAIFRFSATSALYILTPLNPVRKIAIKILVHSLFSMLIMCTILT     71 - 140
NCVFMTLSNPPDWTKNVEYTFTGIYTFESLIKILARGFCLEDFTFLRDPWNWLDFSVIVMAYVTEFVSLG    141 - 210
NVSALRTFRVLRALKTISVIPGLKTIVGALIQSVKKLSDVMILTVFCLSVFALIGLQLFMGNLRNKCLQW    211 - 280
PPSDSAFETNTTSYFNGTMDSNGTFVNVTMSTFNWKDYIGDDSHFYVLDGQKDPLLCGNGSDAGQCPEGY    281 - 350
ICVKAGRNPNYGYTSFDTFSWAFLSLFRLMTQDYWENLYQLTLRAAGKTYMIFFVLVIFLGSFYLVNLIL    351 - 420
AVVAMAYEEQNQATLEEAEQKEAEFQQMLEQLKKQQEEAQAVAAASAASRDFSGIGGLGELLESSSEASK    421 - 490
LSSKSAKEWRNRRKKRRQREHLEGNNKGERDSFPKSESEDSVKRSSFLFSMDGNRLTSDKKFCSPHQSLL    491 - 560
SIRGSLFSPRRNSKTSIFSFRGRAKDVGSENDFADDEHSTFEDSESRRDSLFVPHRHGERRNSNVSQASM    561 - 630
SSRMVPGLPANGKMHSTVDCNGVVSLVGGPSALTSPTGQLPPEGTTTETEVRKRRLSSYQISMEMLEDSS    631 - 700
GRQRAVSIASILTNTMEELEESRQKCPPCWYRFANVFLIWDCCDAWLKVKHLVNLIVMDPFVDLAITICI    701 - 770
VLNTLFMAMEHYPMTEQFSSVLTVGNLVFTGIFTAEMVLKIIAMDPYYYFQEGWNIFDGIIVSLSLMELG    771 - 840
LSNVEGLSVLRSFRLLRVFKLAKSWPTLNMLIKIIGNSVGALGNLTLVLAIIVFIFAVVGMQLFGKSYKE    841 - 910
CVCKINDDCTLPRWHMNDFFHSFLIVFRVLCGEWIETMWDCMEVAGQTMCLIVFMLVMVIGNLVVLNLFL    911 - 980
ALLLSSFSSDNLAATDDDNEMNNLQIAVGRMQKGIDYVKNKMRECFQKAFFRKPKVIEIHEGNKIDSCMS    981 - 1050
NNTGIEISKELNYLRDGNGTTSGVGTGSSVEKYVIDENDYMSFINNPSLTVTVPIAVGESDFENLNTEEF   1051 - 1120
SSESELEESKEKLNATSSSEGSTVDVVLPREGEQAETEPEEDLKPEACFTEGCIKKFPFCQVSTEEGKGK   1121 - 1190
IWWNLRKTCYSIVEHNWFETFIVFMILLSSGALAFEDIYIEQRKTIKTMLEYADKVFTYIFILEMLLKWV   1191 - 1260
AYGFQTYFTNAWCWLDFLIVDVSLVSLVANALGYSELGAIKSLRTLRALRPLRALSRFEGMRVVVNALVG   1261 - 1330
AIPSIMNVLLVCLIFWLIFSIMGVNLFAGKFYHCVNMTTGNMFDISDVNNLSDCQALGKQARWKNVKVNF   1331 - 1400
DNVGAGYLALLQVATFKGWMDIMYAAVDSRDVKLQPVYEENLYMYLYFVIFIIFGSFFTLNLFIGVIIDN   1401 - 1470
FNQQKKKFGGQDIFMTEEQKKYYNAMKKLGSKKPQKPIPRPANKFQGMVFDFVTRQVFDISIMILICLNM   1471 - 1540
VTMMVETDDQGKYMTLVLSRINLVFIVLFTGEFVLKLVSLRHYYFTIGWNIFDFVVVILSIVGMFLAEMI   1541 - 1610
EKYFVSPTLFRVIRLARIGRILRLIKGAKGIRTLLFALMMSLPALFNIGLLLFLVMFIYAIFGMSNFAYV   1611 - 1680
KKEAGIDDMFNFETFGNSMICLFQITTSAGWDGLLAPILNSAPPDCDPDTIHPGSSVKGDCGNPSVGIFF   1681 - 1750
FVSYIIISFLVVVNMYIAVILENFSVATEESAEPLSEDDFEMFYEVWEKFDPDATQFIEFSKLSDFAAAL   1751 - 1820
DPPLLIAKPNKVQLIAMDLPMVSGDRIHCLDILFAFTKRVLGESGEMDALRIQMEDRFMASNPSKVSYEP   1821 - 1890
ITTTLKRKQEEVSAAIIQRNFRCYLLKQRLKNISSNYNKEAIKGRIDLPIKQDMIIDKLNGNSTPEKTDG   1891 - 1960
SSSTTSPPSYDSVTKPDKEKFEKDKPEKESKGKEVRENQK                                 1961 - 2000
//

Text Mined References (28)

PMID Year Title
26566883 2016 Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family.
24337656 2014 Case-control association study of polymorphisms in the voltage-gated sodium channel genes SCN1A, SCN2A, SCN3A, SCN1B, and SCN2B and epilepsy.
24157691 2014 Novel SCN3A variants associated with focal epilepsy in children.
23965409 Correlations in timing of sodium channel expression, epilepsy, and sudden death in Dravet syndrome.
23859570 2013 SCN1A, SCN2A and SCN3A gene polymorphisms and responsiveness to antiepileptic drugs: a multicenter cohort study and meta-analysis.
23016767 2012 Duplication of the sodium channel gene cluster on 2q24 in children with early onset epilepsy.
22494998 2012 Upregulated expression of voltage-gated sodium channel Nav1.3 in cortical lesions of patients with focal cortical dysplasia type IIb.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20346423 Array-CGH detection of a de novo 2.8 Mb deletion in 2q24.2-->q24.3 in a girl with autistic features and developmental delay.
19699781 2009 Abnormal expression of voltage-gated sodium channels Nav1.7, Nav1.3 and Nav1.8 in trigeminal neuralgia.
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