Property Summary

NCBI Gene PubMed Count 25
PubMed Score 73.72
PubTator Score 50.71

Knowledge Summary

Patent (10,209)

TINX Plot

  Disease Sources (4)

Disease Target Count
Epilepsy, Complex Partial 1
Disease Target Count
Epilepsy 346
Administration of Corneal Anesthesia 6
Administration of Local Anesthetic Nerve Block 14
Administration of Regional Anesthesia 7
Anesthesia for cesarean section 8
Atrial Fibrillation 110
Bipolar disorder in remission 19
Cardioversion of Atrial Fibrillation 9
Cough 21
Dysuria 24
Epilepsy characterized by intractable complex partial seizures 28
Hemorrhoids 13
Infestation by Phthirus pubis 7
Infestation by Sarcoptes scabiei var hominis 7
Itching of skin 19
Lennox-Gastaut syndrome 34
Life-Threatening Ventricular Tachycardia 15
Local Anesthesia for Endotracheal Intubation 6
Local Anesthesia for Ophthalmologic Procedure 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 Trauma or Surgery 7
Pruritus ani 14
Pseudobulbar affect 5
Regional Anesthesia for Labor Pain 9
Regional Anesthesia for Ophthalmologic Surgery 6
Regional Anesthesia for Postoperative Pain 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
Disease Target Count P-value
Breast cancer 3099 1.59554635701966E-67
lung carcinoma 2844 1.38497924648843E-40
breast carcinoma 1614 1.0158737645433E-22
chronic lymphocytic leukemia 244 1.3620430373899E-7
lung adenocarcinoma 2714 2.72840950332742E-7
Waldenstrons macroglobulinemia 765 2.17932036143249E-6
colon cancer 1475 2.33238524845462E-6
posterior fossa group B ependymoma 1530 5.39908344253458E-6
malignant mesothelioma 3163 8.02420642632413E-6
interstitial cystitis 2299 0.00119799025218048
medulloblastoma, large-cell 6234 0.00137135819473616
osteosarcoma 7933 0.00143129037107934
primary Sjogren syndrome 789 0.00292173451740251
psoriasis 6685 0.00678520622598004
invasive ductal carcinoma 2950 0.00762093650272841
lung cancer 4473 0.0113913231817398
tuberculosis and treatment for 3 months 327 0.0194196190703402
glioblastoma 5572 0.031497110368747
severe Alzheimer's disease 49 0.038714862066781
medulloblastoma 1524 0.0445475010637747
Disease Target Count Z-score Confidence
Carcinoma 2147 0.0 1.0

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

Synonym

Accession Q9NY46 Q16142 Q53SX0 Q9BZB3 Q9C006 Q9NYK2 Q9P2J1 Q9UPD1 Q9Y6P4
Symbols NAC3
Nav1.3

Gene

  Ortholog (7)

Species Source
Chimp OMA EggNOG
Macaque OMA EggNOG Inparanoid
Mouse OMA EggNOG Inparanoid
Rat OMA EggNOG Inparanoid
Dog OMA Inparanoid
Horse OMA Inparanoid
Anole lizard OMA Inparanoid

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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