Property Summary

NCBI Gene PubMed Count 110
Grant Count 53
R01 Count 29
Funding $7,246,318.64
PubMed Score 348.20
PubTator Score 342.59

Knowledge Summary

Patent (8,777)

TINX Plot

  Disease Relevance (85)

Disease Z-score Confidence
Hyperkalemic periodic paralysis 10 7.588 3.8
Hypokalemic periodic paralysis 13 7.162 3.6
Myotonia congenita 10 6.425 3.2
MYELODYSPLASTIC SYNDROME 36 4.747 2.4
Myopathy 128 3.852 1.9
Thyrotoxicosis 38 3.75 1.9
Malignant hyperthermia 25 3.542 1.8
Hypokalemia 40 3.372 1.7
Epilepsy 346 3.082 1.5
Administration of Local Anesthetic Nerve... 14 
Administration of Regional Anesthesia 7
Anesthesia for cesarean section 8
Bipolar affective disorder, current epis... 13 
Bipolar disorder in remission 19
Carcinoma 2,147 1.0
Congenital myasthenic syndrome 28 4.0
Cough 21
Dysuria 24
Epilepsy characterized by intractable co... 28 
Glossopharyngeal neuralgia 4
Hemorrhoids 13
Hypokalemic Periodic Paralysis, Type 2 1
Hypokalemic periodic paralysis type 1 3
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
MYASTHENIC SYNDROME, CONGENITAL, ACETAZO... 1 
Major Nerve Block for Surgery 8
Minor Skin Wound Pain 12
Mixed Epilepsy 3
Mixed bipolar I disorder 9
Motor cortex epilepsy 10
Mouth Irritation 12
Myasthenic Syndrome due to Mutation in S... 5 
Myasthenic Syndromes, Congenital 2
Myotonia 3
Myotonia Fluctuans (disorder) 1
Myotonic Disorders 1
Neuralgia 16
Normokalemic Periodic Paralysis, Potassi... 1 
Paramyotonia Congenita (disorder) 1
Parkinsonism 19
Partial seizure 15
Pediculosis capitis 7
Postherpetic neuralgia 12
Potassium aggravated myotonia 1
Premature ejaculation 16
Prevent Minor Bacterial Skin Infection 10
Prevention of Seizures following Cranial... 7 
Pruritus ani 14
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
Spasticity 26
Status Epilepticus 85
Suppression of the Gag Reflex 12
Tachyarrhythmia 2
Tinea Infections 10
Tinea corporis 25
Tinea pedis 30
Tonic-clonic epilepsy 47
Tonic-clonic seizure 11
Trigeminal neuralgia 12
Urethritis 10
Urinary Tract Irritation 24
Ventricular arrhythmia 14
breast carcinoma 1,614
ductal carcinoma in situ 1,745
invasive ductal carcinoma 2,950
osteosarcoma 7,933
psoriasis 6,685

Expression

  Differential Expression (5)

Disease log2 FC p
osteosarcoma -1.331 0.001
breast carcinoma -1.500 0.001
ductal carcinoma in situ -1.300 0.003
invasive ductal carcinoma -1.400 0.016
psoriasis -1.200 0.000

Gene RIF (76)

PMID Text
27060299 The c.4427 T>C (p.Met1476Thr) mutation of the SCN4A gene contribute to the paramyotonia congenita.
26700687 Recessive loss-of-function SCN4A mutations were identified in congenital myopathy patients.
26494408 Computer simulations of the effects of the I693T mutation were introduced in the muscle fiber model by both hyperpolarizing shifts in the Nav1.4 channel activation and a faster recovery from slow channel inactivation
26427606 association of the genetic variability of SCN4A with the development of essential tremor
26252573 CACNA1S and SCN4A mutations are relatively rare in patients with hypokalemic periodic paralysis
26036855 These data suggest a possible involvement of SCN4A variants in the pathophysiological mechanism underlying the development of a spontaneous or drug-induced type 1 electrocardiographic pattern and the occurrence of malignant arrhythmias in some patients with Brugada syndrome.
25839108 As the result, heterozygous mutations c.2024G>A (R675Q) and c.1333G>A (V445M) of gene SCN4A were identified in the hypokalemic periodic paralysis patient and the paramyotonia congenita family respectively.
25755818 A Val1589Met mutation at exon 24 of the SCN4A gene appears in affected subjects with a mild form of paramyotonia, while healthy members had a point mutation at position 1513 at exon 24 of the SCN4A gene
25735906 Mutation analysis in the patient and in child's mother revealed a heterozygous p.N1180I mutation in exon 19 of SCN4A gene. In newborns with stiffness, peripheral contractures and myotonia, the sequence analysis of SCN4A gene should be performed.
25724373 The patient with scn4a mutation exhibited various symptoms that evolved with age, including apneic episodes, tonic muscular contractions during sleep, fluctuating severe episodic myotonia, and finally episodic paralyses.
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AA Sequence

MARPSLCTLVPLGPECLRPFTRESLAAIEQRAVEEEARLQRNKQMEIEEPERKPRSDLEAGKNLPMIYGD      1 - 70
PPPEVIGIPLEDLDPYYSNKKTFIVLNKGKAIFRFSATPALYLLSPFSVVRRGAIKVLIHALFSMFIMIT     71 - 140
ILTNCVFMTMSDPPPWSKNVEYTFTGIYTFESLIKILARGFCVDDFTFLRDPWNWLDFSVIMMAYLTEFV    141 - 210
DLGNISALRTFRVLRALKTITVIPGLKTIVGALIQSVKKLSDVMILTVFCLSVFALVGLQLFMGNLRQKC    211 - 280
VRWPPPFNDTNTTWYSNDTWYGNDTWYGNEMWYGNDSWYANDTWNSHASWATNDTFDWDAYISDEGNFYF    281 - 350
LEGSNDALLCGNSSDAGHCPEGYECIKTGRNPNYGYTSYDTFSWAFLALFRLMTQDYWENLFQLTLRAAG    351 - 420
KTYMIFFVVIIFLGSFYLINLILAVVAMAYAEQNEATLAEDKEKEEEFQQMLEKFKKHQEELEKAKAAQA    421 - 490
LEGGEADGDPAHGKDCNGSLDTSQGEKGAPRQSSSGDSGISDAMEELEEAHQKCPPWWYKCAHKVLIWNC    491 - 560
CAPWLKFKNIIHLIVMDPFVDLGITICIVLNTLFMAMEHYPMTEHFDNVLTVGNLVFTGIFTAEMVLKLI    561 - 630
AMDPYEYFQQGWNIFDSIIVTLSLVELGLANVQGLSVLRSFRLLRVFKLAKSWPTLNMLIKIIGNSVGAL    631 - 700
GNLTLVLAIIVFIFAVVGMQLFGKSYKECVCKIALDCNLPRWHMHDFFHSFLIVFRILCGEWIETMWDCM    701 - 770
EVAGQAMCLTVFLMVMVIGNLVVLNLFLALLLSSFSADSLAASDEDGEMNNLQIAIGRIKLGIGFAKAFL    771 - 840
LGLLHGKILSPKDIMLSLGEADGAGEAGEAGETAPEDEKKEPPEEDLKKDNHILNHMGLADGPPSSLELD    841 - 910
HLNFINNPYLTIQVPIASEESDLEMPTEEETDTFSEPEDSKKPPQPLYDGNSSVCSTADYKPPEEDPEEQ    911 - 980
AEENPEGEQPEECFTEACVQRWPCLYVDISQGRGKKWWTLRRACFKIVEHNWFETFIVFMILLSSGALAF    981 - 1050
EDIYIEQRRVIRTILEYADKVFTYIFIMEMLLKWVAYGFKVYFTNAWCWLDFLIVDVSIISLVANWLGYS   1051 - 1120
ELGPIKSLRTLRALRPLRALSRFEGMRVVVNALLGAIPSIMNVLLVCLIFWLIFSIMGVNLFAGKFYYCI   1121 - 1190
NTTTSERFDISEVNNKSECESLMHTGQVRWLNVKVNYDNVGLGYLSLLQVATFKGWMDIMYAAVDSREKE   1191 - 1260
EQPQYEVNLYMYLYFVIFIIFGSFFTLNLFIGVIIDNFNQQKKKLGGKDIFMTEEQKKYYNAMKKLGSKK   1261 - 1330
PQKPIPRPQNKIQGMVYDLVTKQAFDITIMILICLNMVTMMVETDNQSQLKVDILYNINMIFIIIFTGEC   1331 - 1400
VLKMLALRQYYFTVGWNIFDFVVVILSIVGLALSDLIQKYFVSPTLFRVIRLARIGRVLRLIRGAKGIRT   1401 - 1470
LLFALMMSLPALFNIGLLLFLVMFIYSIFGMSNFAYVKKESGIDDMFNFETFGNSIICLFEITTSAGWDG   1471 - 1540
LLNPILNSGPPDCDPNLENPGTSVKGDCGNPSIGICFFCSYIIISFLIVVNMYIAIILENFNVATEESSE   1541 - 1610
PLGEDDFEMFYETWEKFDPDATQFIAYSRLSDFVDTLQEPLRIAKPNKIKLITLDLPMVPGDKIHCLDIL   1611 - 1680
FALTKEVLGDSGEMDALKQTMEEKFMAANPSKVSYEPITTTLKRKHEEVCAIKIQRAYRRHLLQRSMKQA   1681 - 1750
SYMYRHSHDGSGDDAPEKEGLLANTMSKMYGHENGNSSSPSPEEKGEAGDAGPTMGLMPISPSDTAWPPA   1751 - 1820
PPPGQTVRPGVKESLV                                                         1821 - 1836
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Text Mined References (119)

PMID Year Title
27060299 2016 [Paramyotonia congenita caused by a novel mutation of SCN4A gene in a Chinese family].
26700687 2016 Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.
26659129 2016 A recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis.
26494408 2015 Divalent cation-responsive myotonia and muscle paralysis in skeletal muscle sodium channelopathy.
26427606 2015 SCN4A pore mutation pathogenetically contributes to autosomal dominant essential tremor and may increase susceptibility to epilepsy.
26252573 2015 Mutation analysis of CACNA1S and SCN4A in patients with hypokalemic periodic paralysis.
26036855 2016 SCN4A variants and Brugada syndrome: phenotypic and genotypic overlap between cardiac and skeletal muscle sodium channelopathies.
25839108 2015 Mutations of SCN4A gene cause different diseases: 2 case reports and literature review.
25755818 2015 Phenotypic variation of Val1589Met mutation in a four-generation Chinese pedigree with mild paramyotonia congenitia: case report.
25735906 2015 New phenotype and neonatal onset of sodium channel myotonia in a child with a novel mutation of SCN4A gene.
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