Property Summary

NCBI Gene PubMed Count 84
Grant Count 157
R01 Count 84
Funding $25,696,911.56
PubMed Score 1152.72
PubTator Score 284.73

Knowledge Summary

Patent (38,770)

TINX Plot

  Disease Relevance (89)

Disease Z-score Confidence
Thalassemia 46 6.399 3.2
Epilepsy 346 5.589 2.8
Scrapie 15 5.477 2.7
Anemia 252 4.864 2.4
Sickle cell anemia 35 4.335 2.2
diabetes mellitus 1,663 3.568 1.8
Neuroblastoma 78 3.272 1.6
Autistic Disorder 320 3.079 1.5
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
Cough 21
Dysuria 24
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTIL... 1 
Early infantile epileptic encephalopathy... 18 
Epilepsy characterized by intractable co... 28 
Epilepsy, Benign Neonatal, 3 1
Febrile Convulsions 11
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, BENIGN FAMILIAL INFANTILE, 3 2
Seizure Adverse Event 19
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
West Syndrome 23
astrocytic glioma 2,241
atypical teratoid / rhabdoid tumor 4,369
glioblastoma 5,572
lung cancer 4,466
lung carcinoma 2,844
malignant mesothelioma 3,162
medulloblastoma, large-cell 6,234
non primary Sjogren syndrome sicca 840
oligodendroglioma 2,849
osteosarcoma 7,933
pediatric high grade glioma 2,712
pilocytic astrocytoma 3,086
posterior fossa group A ependymoma 1,511
primitive neuroectodermal tumor 3,031
psoriasis 6,685
sonic hedgehog group medulloblastoma 1,482
subependymal giant cell astrocytoma 2,287

Expression

  Differential Expression (18)

Synonym

Accession Q99250 A6NC14 A6NIQ5 Q14472 Q53T77 Q9BZC9 Q9BZD0
Symbols HBA
NAC2
BFIC3
BFIS3
BFNIS
HBSCI
EIEE11
HBSCII
Nav1.2
SCN2A1
SCN2A2
Na(v)1.2

Gene

PDB

4JPZ   2KAV  

Gene RIF (65)

PMID Text
26637798 This study provide the evidence SCN2A mutation releate to Autism Spectrum Disorder.
26555645 We argue that very rare, loss-of-function mutations at SCN2A act in a moderately penetrant manner to increase the risk of developing several neuropsychiatric disorders including seizure disorders, intellectual disability, autism and schizophrenia.
26311622 Mutations in SCN1A and SCN2A are a predisposing factor of acute encephalopathy with biphasic seizures and late reduced diffusion
26291284 SCN2A is the second most common cause of epilepsy of infancy with migrating focal seizures
25998125 Two lysine residues (residues 105-106)of AnkG are critical for Nav1.2 but not KCNQ3 channel binding.
25961639 Findings provide convergent evidence that a common polymorphism in SCN2A accounts for significant interindividual variability in human general cognitive ability, possibly by modulating prefrontal cortex physiology
25818041 Epileptic encephalopathy related to mutations in the SCN2A genes.
25459969 A heterozygous mutation (c.3631G > A; p.E1211K) was identified in exon 21 of SCN2A gene. This is the first case of SCN2A mutation identified in Chinese.
25457084 Case suggests that SCN2A mutations might predispose children to repetitive encephalopathy with variable clinical and imaging findings.
25155934 the mechanism of AED resistance remains uncertain, which led us to evaluate the impact of polymorphisms of the SCN1A, SCN2A and ABCC2 genes on the AED response in Chinese Han patients with epilepsy in the present study.
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AA Sequence

MAQSVLVPPGPDSFRFFTRESLAAIEQRIAEEKAKRPKQERKDEDDENGPKPNSDLEAGKSLPFIYGDIP      1 - 70
PEMVSVPLEDLDPYYINKKTFIVLNKGKAISRFSATPALYILTPFNPIRKLAIKILVHSLFNMLIMCTIL     71 - 140
TNCVFMTMSNPPDWTKNVEYTFTGIYTFESLIKILARGFCLEDFTFLRDPWNWLDFTVITFAYVTEFVDL    141 - 210
GNVSALRTFRVLRALKTISVIPGLKTIVGALIQSVKKLSDVMILTVFCLSVFALIGLQLFMGNLRNKCLQ    211 - 280
WPPDNSSFEINITSFFNNSLDGNGTTFNRTVSIFNWDEYIEDKSHFYFLEGQNDALLCGNSSDAGQCPEG    281 - 350
YICVKAGRNPNYGYTSFDTFSWAFLSLFRLMTQDFWENLYQLTLRAAGKTYMIFFVLVIFLGSFYLINLI    351 - 420
LAVVAMAYEEQNQATLEEAEQKEAEFQQMLEQLKKQQEEAQAAAAAASAESRDFSGAGGIGVFSESSSVA    421 - 490
SKLSSKSEKELKNRRKKKKQKEQSGEEEKNDRVRKSESEDSIRRKGFRFSLEGSRLTYEKRFSSPHQSLL    491 - 560
SIRGSLFSPRRNSRASLFSFRGRAKDIGSENDFADDEHSTFEDNDSRRDSLFVPHRHGERRHSNVSQASR    561 - 630
ASRVLPILPMNGKMHSAVDCNGVVSLVGGPSTLTSAGQLLPEGTTTETEIRKRRSSSYHVSMDLLEDPTS    631 - 700
RQRAMSIASILTNTMEELEESRQKCPPCWYKFANMCLIWDCCKPWLKVKHLVNLVVMDPFVDLAITICIV    701 - 770
LNTLFMAMEHYPMTEQFSSVLSVGNLVFTGIFTAEMFLKIIAMDPYYYFQEGWNIFDGFIVSLSLMELGL    771 - 840
ANVEGLSVLRSFRLLRVFKLAKSWPTLNMLIKIIGNSVGALGNLTLVLAIIVFIFAVVGMQLFGKSYKEC    841 - 910
VCKISNDCELPRWHMHDFFHSFLIVFRVLCGEWIETMWDCMEVAGQTMCLTVFMMVMVIGNLVVLNLFLA    911 - 980
LLLSSFSSDNLAATDDDNEMNNLQIAVGRMQKGIDFVKRKIREFIQKAFVRKQKALDEIKPLEDLNNKKD    981 - 1050
SCISNHTTIEIGKDLNYLKDGNGTTSGIGSSVEKYVVDESDYMSFINNPSLTVTVPIAVGESDFENLNTE   1051 - 1120
EFSSESDMEESKEKLNATSSSEGSTVDIGAPAEGEQPEVEPEESLEPEACFTEDCVRKFKCCQISIEEGK   1121 - 1190
GKLWWNLRKTCYKIVEHNWFETFIVFMILLSSGALAFEDIYIEQRKTIKTMLEYADKVFTYIFILEMLLK   1191 - 1260
WVAYGFQVYFTNAWCWLDFLIVDVSLVSLTANALGYSELGAIKSLRTLRALRPLRALSRFEGMRVVVNAL   1261 - 1330
LGAIPSIMNVLLVCLIFWLIFSIMGVNLFAGKFYHCINYTTGEMFDVSVVNNYSECKALIESNQTARWKN   1331 - 1400
VKVNFDNVGLGYLSLLQVATFKGWMDIMYAAVDSRNVELQPKYEDNLYMYLYFVIFIIFGSFFTLNLFIG   1401 - 1470
VIIDNFNQQKKKFGGQDIFMTEEQKKYYNAMKKLGSKKPQKPIPRPANKFQGMVFDFVTKQVFDISIMIL   1471 - 1540
ICLNMVTMMVETDDQSQEMTNILYWINLVFIVLFTGECVLKLISLRYYYFTIGWNIFDFVVVILSIVGMF   1541 - 1610
LAELIEKYFVSPTLFRVIRLARIGRILRLIKGAKGIRTLLFALMMSLPALFNIGLLLFLVMFIYAIFGMS   1611 - 1680
NFAYVKREVGIDDMFNFETFGNSMICLFQITTSAGWDGLLAPILNSGPPDCDPDKDHPGSSVKGDCGNPS   1681 - 1750
VGIFFFVSYIIISFLVVVNMYIAVILENFSVATEESAEPLSEDDFEMFYEVWEKFDPDATQFIEFAKLSD   1751 - 1820
FADALDPPLLIAKPNKVQLIAMDLPMVSGDRIHCLDILFAFTKRVLGESGEMDALRIQMEERFMASNPSK   1821 - 1890
VSYEPITTTLKRKQEEVSAIIIQRAYRRYLLKQKVKKVSSIYKKDKGKECDGTPIKEDTLIDKLNENSTP   1891 - 1960
EKTDMTPSTTSPPSYDSVTKPEKEKFEKDKSEKEDKGKDIRESKK                            1961 - 2005
//

Text Mined References (89)

PMID Year Title
26637798 2015 Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms.
26555645 2016 Mutation screening of SCN2A in schizophrenia and identification of a novel loss-of-function mutation.
26311622 2015 Missense mutations in sodium channel SCN1A and SCN2A predispose children to encephalopathy with severe febrile seizures.
26291284 2015 SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures.
25998125 2015 An Ankyrin-G N-terminal Gate and Protein Kinase CK2 Dually Regulate Binding of Voltage-gated Sodium and KCNQ2/3 Potassium Channels.
25961639 2015 A Common Polymorphism in SCN2A Predicts General Cognitive Ability through Effects on PFC Physiology.
25818041 2015 Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
25459969 2015 SCN2A mutation in a Chinese boy with infantile spasm - response to Modified Atkins Diet.
25457084 2015 A case of recurrent encephalopathy with SCN2A missense mutation.
25344690 2014 Common variants associated with general and MMR vaccine-related febrile seizures.
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