Property Summary

NCBI Gene PubMed Count 488
Grant Count 272
R01 Count 218
Funding $39,071,962.95
PubMed Score 1221.02
PubTator Score 1244.80

Knowledge Summary

Patent (69,825)

TINX Plot

  Disease Relevance (112)

Disease Z-score Confidence
Long QT syndrome 52 8.106 4.0
Heart disease 279 6.755 3.4
Sudden infant death syndrome 33 5.258 2.6
Short QT syndrome 12 3.833 1.9
Timothy syndrome 12 3.136 1.6
ATRIAL FIBRILLATION, FAMILIAL, 10 1
Acquired long QT syndrome 3
Administration of Corneal Anesthesia 6
Administration of Local Anesthetic Nerve... 14 
Administration of Regional Anesthesia 7
Amyotrophic Lateral Sclerosis 431
Anesthesia for cesarean section 8
Angina pectoris 21
Arrhythmogenic Right Ventricular Dysplas... 10 
Atrial Fibrillation 110
Atrial Fibrillation Adverse Event 4
Bipolar affective disorder, current epis... 13 
Bipolar disorder in remission 19
Brugada Syndrome (disorder) 15
Brugada syndrome 26 4.0
CARDIAC CONDUCTION DEFECT, NONSPECIFIC (... 2 
CARDIOMYOPATHY, DILATED, 1E 1
CARDIOMYOPATHY, FAMILIAL, WITH CONDUCTIO... 2 
Carcinoma 2,147 1.0
Cardiac Conduction Defect, Nonprogressiv... 1 
Cardiomyopathies 90
Cardiomyopathy 110 4.0
Cardiomyopathy, Dilated 47
Cardiomyopathy, Hypertrophic, Familial 21
Cardioversion of Atrial Fibrillation 9
Congenital long QT syndrome 8
Cough 21
Dilated cardiomyopathy 50 5.0
Dysuria 24
Electrocardiogram: P-R interval 9
Epilepsy 346
Epilepsy characterized by intractable co... 28 
Familial atrial fibrillation 16 4.0
Glossopharyngeal neuralgia 4
Heart Block, Nonprogressive 1
Heart conduction disease 65 2.0
Hemorrhoids 13
Hereditary bundle branch system defect 1
Infestation by Phthirus pubis 7
Infestation by Sarcoptes scabiei var hom... 7 
Itching of skin 19
LONG QT SYNDROME 2/3, DIGENIC 2
LONG QT SYNDROME 3 1
LONG QT SYNDROME 3, ACQUIRED, SUSCEPTIBI... 1 
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
Long QT syndrome type 3 1
Major Nerve Block for Surgery 8
Malaria 140
Migraine Prevention 22
Minor Skin Wound Pain 12
Mixed Epilepsy 3
Mixed bipolar I disorder 9
Motor cortex epilepsy 10
Mouth Irritation 12
Neuralgia 16
Parkinsonism 19
Paroxysmal atrial fibrillation 6
Paroxysmal atrial flutter 2
Paroxysmal familial ventricular fibrilla... 4 
Paroxysmal supraventricular tachycardia 11
Partial seizure 15
Pediculosis capitis 7
Postherpetic neuralgia 12
Premature ejaculation 16
Prevent Minor Bacterial Skin Infection 10
Prevention of Paroxysmal Supraventricula... 4 
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
Romano-Ward Syndrome 12
SICK SINUS SYNDROME 1, AUTOSOMAL RECESSI... 1 
Seizures in Neurosurgery 7
Sick sinus syndrome 14 5.0
Simple partial seizure 26
Sinus Node Dysfunction (disorder) 2
Skin irritation 12
Sore throat symptom 12
Spasticity 26
Status Epilepticus 85
Sudden Cardiac Death 7
Suppression of the Gag Reflex 12
Tachycardia, Ventricular 10
Tinea Infections 10
Tinea corporis 25
Tinea pedis 30
Tonic-clonic epilepsy 47
Tonic-clonic seizure 11
Torsades de Pointes 5
Trigeminal neuralgia 12
Urethritis 10
Urinary Tract Irritation 24
Ventricular Fibrillation 10
Ventricular Fibrillation, Paroxysmal Fam... 1 
Ventricular arrhythmia 14
psoriasis 6,685

Expression

  Differential Expression (1)

Disease log2 FC p
psoriasis -1.200 0.000

Synonym

Accession Q14524 A5H1P8 A6N922 A6N923 B2RTU0 E7ET19 E9PEF3 E9PEK2 E9PFW7 Q59H93 Q75RX9 Q75RY0 Q86UR3 Q8IZC9 Q96J69
Symbols HB1
HB2
HH1
IVF
VF1
HBBD
ICCD
LQT3
SSS1
CDCD2
CMD1E
CMPD2
PFHB1
Nav1.5

Gene

PDB

2L53   4DCK   4DJC   4JQ0   4OVN   2KBI  

Gene RIF (452)

PMID Text
27063795 misregulation of the alternative splicing of SCN5A may contribute to a subset of the cardiac dysfunctions observed in myotonic dystrophy.
26916278 SCN5A genetic variants are linking to different cardiomyopathies (Review)
26746457 Among laboratories there was low concordance in designating SCN5A and KCNH2 variants as pathogenic. In an unselected population, the putatively pathogenic genetic variants were not associated with an abnormal phenotype.
26729167 Alkaloids from Veratrum taliense Exert Cardiovascular Toxic Effects via Cardiac Sodium Channel Subtype 1.5
26718772 Pharmacological or genetic blockade of Nav1.5 may serve as a potential anti-metastatic therapy for breast cancer.
26639179 In symptomatic patients with deleterious variants in SCN5A a permanent pacemaker and implantable cardioverter defibrillator therapy should be considered.
26636939 Role of Asparagines in Coupling the Pore and Votage-Sensor Domain in Voltage-Gated Sodium Channels
26496715 Mutational screening identified 104 mutations (44% novel), i.e. 46 KCNQ1, 54 KCNH2 and 4 SCN5A mutations for long QT syndrome in China
26452220 Authors conclude that Nav1.5 is functionally active in cancer cells in breast tumors, enhancing growth and metastatic dissemination.
26392562 Data indicate that SCN5A variant (Nav1.5) p.H1849R affected interaction with fibroblast growth factor homologous factor (FHFs).
More...

AA Sequence

MANFLLPRGTSSFRRFTRESLAAIEKRMAEKQARGSTTLQESREGLPEEEAPRPQLDLQASKKLPDLYGN      1 - 70
PPQELIGEPLEDLDPFYSTQKTFIVLNKGKTIFRFSATNALYVLSPFHPIRRAAVKILVHSLFNMLIMCT     71 - 140
ILTNCVFMAQHDPPPWTKYVEYTFTAIYTFESLVKILARGFCLHAFTFLRDPWNWLDFSVIIMAYTTEFV    141 - 210
DLGNVSALRTFRVLRALKTISVISGLKTIVGALIQSVKKLADVMVLTVFCLSVFALIGLQLFMGNLRHKC    211 - 280
VRNFTALNGTNGSVEADGLVWESLDLYLSDPENYLLKNGTSDVLLCGNSSDAGTCPEGYRCLKAGENPDH    281 - 350
GYTSFDSFAWAFLALFRLMTQDCWERLYQQTLRSAGKIYMIFFMLVIFLGSFYLVNLILAVVAMAYEEQN    351 - 420
QATIAETEEKEKRFQEAMEMLKKEHEALTIRGVDTVSRSSLEMSPLAPVNSHERRSKRRKRMSSGTEECG    421 - 490
EDRLPKSDSEDGPRAMNHLSLTRGLSRTSMKPRSSRGSIFTFRRRDLGSEADFADDENSTAGESESHHTS    491 - 560
LLVPWPLRRTSAQGQPSPGTSAPGHALHGKKNSTVDCNGVVSLLGAGDPEATSPGSHLLRPVMLEHPPDT    561 - 630
TTPSEEPGGPQMLTSQAPCVDGFEEPGARQRALSAVSVLTSALEELEESRHKCPPCWNRLAQRYLIWECC    631 - 700
PLWMSIKQGVKLVVMDPFTDLTITMCIVLNTLFMALEHYNMTSEFEEMLQVGNLVFTGIFTAEMTFKIIA    701 - 770
LDPYYYFQQGWNIFDSIIVILSLMELGLSRMSNLSVLRSFRLLRVFKLAKSWPTLNTLIKIIGNSVGALG    771 - 840
NLTLVLAIIVFIFAVVGMQLFGKNYSELRDSDSGLLPRWHMMDFFHAFLIIFRILCGEWIETMWDCMEVS    841 - 910
GQSLCLLVFLLVMVIGNLVVLNLFLALLLSSFSADNLTAPDEDREMNNLQLALARIQRGLRFVKRTTWDF    911 - 980
CCGLLRQRPQKPAALAAQGQLPSCIATPYSPPPPETEKVPPTRKETRFEEGEQPGQGTPGDPEPVCVPIA    981 - 1050
VAESDTDDQEEDEENSLGTEEESSKQQESQPVSGGPEAPPDSRTWSQVSATASSEAEASASQADWRQQWK   1051 - 1120
AEPQAPGCGETPEDSCSEGSTADMTNTAELLEQIPDLGQDVKDPEDCFTEGCVRRCPCCAVDTTQAPGKV   1121 - 1190
WWRLRKTCYHIVEHSWFETFIIFMILLSSGALAFEDIYLEERKTIKVLLEYADKMFTYVFVLEMLLKWVA   1191 - 1260
YGFKKYFTNAWCWLDFLIVDVSLVSLVANTLGFAEMGPIKSLRTLRALRPLRALSRFEGMRVVVNALVGA   1261 - 1330
IPSIMNVLLVCLIFWLIFSIMGVNLFAGKFGRCINQTEGDLPLNYTIVNNKSQCESLNLTGELYWTKVKV   1331 - 1400
NFDNVGAGYLALLQVATFKGWMDIMYAAVDSRGYEEQPQWEYNLYMYIYFVIFIIFGSFFTLNLFIGVII   1401 - 1470
DNFNQQKKKLGGQDIFMTEEQKKYYNAMKKLGSKKPQKPIPRPLNKYQGFIFDIVTKQAFDVTIMFLICL   1471 - 1540
NMVTMMVETDDQSPEKINILAKINLLFVAIFTGECIVKLAALRHYYFTNSWNIFDFVVVILSIVGTVLSD   1541 - 1610
IIQKYFFSPTLFRVIRLARIGRILRLIRGAKGIRTLLFALMMSLPALFNIGLLLFLVMFIYSIFGMANFA   1611 - 1680
YVKWEAGIDDMFNFQTFANSMLCLFQITTSAGWDGLLSPILNTGPPYCDPTLPNSNGSRGDCGSPAVGIL   1681 - 1750
FFTTYIIISFLIVVNMYIAIILENFSVATEESTEPLSEDDFDMFYEIWEKFDPEATQFIEYSVLSDFADA   1751 - 1820
LSEPLRIAKPNQISLINMDLPMVSGDRIHCMDILFAFTKRVLGESGEMDALKIQMEEKFMAANPSKISYE   1821 - 1890
PITTTLRRKHEEVSAMVIQRAFRRHLLQRSLKHASFLFRQQAGSGLSEEDAPEREGLIAYVMSENFSRPL   1891 - 1960
GPPSSSSISSTSFPPSYDSVTRATSDNLQVRGSDYSHSEDLADFPPSPDRDRESIV                 1961 - 2016
//

Text Mined References (503)

PMID Year Title
27063795 2016 Splicing misregulation of SCN5A contributes to cardiac-conduction delay and heart arrhythmia in myotonic dystrophy.
26916278 2016 The role of mutations in the SCN5A gene in cardiomyopathies.
26776555 2016 SCN5A(K817E), a novel Brugada syndrome-associated mutation that alters the activation gating of NaV1.5 channel.
26746457 2016 Association of Arrhythmia-Related Genetic Variants With Phenotypes Documented in Electronic Medical Records.
26729167 2015 Alkaloids from Veratrum taliense Exert Cardiovascular Toxic Effects via Cardiac Sodium Channel Subtype 1.5.
26718772 2016 Blockade of voltage-gated sodium channels inhibits invasion of endocrine-resistant breast cancer cells.
26639179 2016 MY APPROACH to genetic testing in cardiology practice.
26636939 2015 Important Role of Asparagines in Coupling the Pore and Votage-Sensor Domain in Voltage-Gated Sodium Channels.
26496715 2016 Common Genotypes of Long QT Syndrome in China and the Role of ECG Prediction.
26452220 2015 Nav1.5 regulates breast tumor growth and metastatic dissemination in vivo.
More...