| General information | Literature | Expression | Regulation | Variant | Interaction |
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Basic Information |
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|---|---|
Gene ID | 6331 |
Name | SCN5A |
Synonym | CDCD2|CMD1E|CMPD2|HB1|HB2|HBBD|HH1|ICCD|IVF|LQT3|Nav1.5|PFHB1|SSS1|VF1;sodium channel, voltage-gated, type V, alpha subunit;SCN5A;sodium channel, voltage-gated, type V, alpha subunit |
Definition | cardiac tetrodotoxin-insensitive voltage-dependent sodium channel alpha subunit|sodium channel protein cardiac muscle subunit alpha|sodium channel protein type 5 subunit alpha|voltage-gated sodium channel subunit alpha Nav1.5 |
Position | 3p21 |
Gene Type | protein-coding |
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PAH Type |
Description |
PAH | "We observed linkage evidence in four regions: 3q22 ([median log of the odds (LOD) = 3.43]), 3p12 (median LOD) = 2.35), 2p22 (median LOD = 2.21), and 13q21 (median LOD = 2.09). When used in conjunction with the non-parametric bootstrap, our approach yields high-resolution to identify candidate gene regions containing putative BMPR2-interacting genes. Imputation of the disease model by LOD-score maximization indicates that the 3q22 locus alone predicts most FPAH cases in BMPR2 mutation carriers, providing strong evidence that BMPR2 and the 3q22 locus interact epistatically." |
| More detail of all Human literatures about SCN5A | |
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Pathways and Diseases |
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Pathway | Axon guidance;Reactome;REACT:18266 |
Disease | Ischemia;FunDO |
Disease | Atrial Fibrillation;GAD |
Disease | inherited cardiac arrhythmia long QT syndrome;GAD |
Disease | Electrocardiographic conduction measures;GAD |
Disease | Heart block, progressive, type IA;OMIM |
Disease | PR interval;NHGRI |
Disease | QT interval;NHGRI |
Disease | cardiac arrhythmias and sudden death;GAD |
Disease | Cardiomyopathy, dilated, 1E;OMIM |
Disease | Breast cancer;FunDO |
Disease | Long QT syndrome-3;OMIM |
Disease | Heart block, nonprogressive;OMIM |
Disease | Ventricular fibrillation, familial, 1;OMIM |
Disease | SIDS/sudden infant death syndrome;GAD |
Disease | Sudden infant death syndrome;FunDO |
Disease | QT interval;GAD |
Disease | Drug abuse;FunDO |
Disease | Electrocardiographic conduction measures;NHGRI |
Disease | Sudden infant death syndrome, susceptibility to;OMIM |
Disease | CARDIOVASCULAR;GAD |
Disease | Sick sinus syndrome 1;OMIM |
Disease | Long QT syndrome;FunDO |
Disease | Intestinal disease;FunDO |
Disease | cardiac conduction disturbances and degenerative changes;GAD |
Disease | Brugada syndrome 1;OMIM |
Disease | Drug-induced long-QT syndrome;GAD |
Disease | Electrocardiographic traits;NHGRI |
Disease | Brugada syndrome;GAD |
Disease | Heart disease;FunDO |
Disease | early onset of sudden infant death.;GAD |
Disease | Congenital abnormality;FunDO |
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External Links |
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Links to Entrez Gene | 6331 |
Links to all GeneRIF Items | 6331 |
Links to iHOP | 6331 |
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Sequence Information |
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Nucleotide Sequence |
>6331 : length: 6048 atggcaaacttcctattacctcggggcaccagcagcttccgcaggttcacacgggagtcc ctggcagccatcgagaagcgcatggcagagaagcaagcccgcggctcaaccaccttgcag gagagccgagaggggctgcccgaggaggaggctccccggccccagctggacctgcaggcc tccaaaaagctgccagatctctatggcaatccaccccaagagctcatcggagagcccctg gaggacctggaccccttctatagcacccaaaagactttcatcgtactgaataaaggcaag accatcttccggttcagtgccaccaacgccttgtatgtcctcagtcccttccaccccatc cggagagcggctgtgaagattctggttcactcgctcttcaacatgctcatcatgtgcacc atcctcaccaactgcgtgttcatggcccagcacgaccctccaccctggaccaagtatgtc gagtacaccttcaccgccatttacacctttgagtctctggtcaagattctggctcgaggc ttctgcctgcacgcgttcactttccttcgggacccatggaactggctggactttagtgtg attatcatggcatacacaactgaatttgtggacctgggcaatgtctcagccttacgcacc ttccgagtcctccgggccctgaaaactatatcagtcatttcagggctgaagaccatcgtg ggggccctgatccagtctgtgaagaagctggctgatgtgatggtcctcacagtcttctgc ctcagcgtctttgccctcatcggcctgcagctcttcatgggcaacctaaggcacaagtgc gtgcgcaacttcacagcgctcaacggcaccaacggctccgtggaggccgacggcttggtc tgggaatccctggacctttacctcagtgatccagaaaattacctgctcaagaacggcacc tctgatgtgttactgtgtgggaacagctctgacgctgggacatgtccggagggctaccgg tgcctaaaggcaggcgagaaccccgaccacggctacaccagcttcgattcctttgcctgg gcctttcttgcactcttccgcctgatgacgcaggactgctgggagcgcctctatcagcag accctcaggtccgcagggaagatctacatgatcttcttcatgcttgtcatcttcctgggg tccttctacctggtgaacctgatcctggccgtggtcgcaatggcctatgaggagcaaaac caagccaccatcgctgagaccgaggagaaggaaaagcgcttccaggaggccatggaaatg ctcaagaaagaacacgaggccctcaccatcaggggtgtggataccgtgtcccgtagctcc ttggagatgtcccctttggccccagtaaacagccatgagagaagaagcaagaggagaaaa cggatgtcttcaggaactgaggagtgtggggaggacaggctccccaagtctgactcagaa gatggtcccagagcaatgaatcatctcagcctcacccgtggcctcagcaggacttctatg aagccacgttccagccgcgggagcattttcacctttcgcaggcgagacctgggttctgaa gcagattttgcagatgatgaaaacagcacagcgggggagagcgagagccaccacacatca ctgctggtgccctggcccctgcgccggaccagtgcccagggacagcccagtcccggaacc tcggctcctggccacgccctccatggcaaaaagaacagcactgtggactgcaatggggtg gtctcattactgggggcaggcgacccagaggccacatccccaggaagccacctcctccgc cctgtgatgctagagcacccgccagacacgaccacgccatcggaggagccaggcgggccc cagatgctgacctcccaggctccgtgtgtagatggcttcgaggagccaggagcacggcag cgggccctcagcgcagtcagcgtcctcaccagcgcactggaagagttagaggagtctcgc cacaagtgtccaccatgctggaaccgtctcgcccagcgctacctgatctgggagtgctgc ccgctgtggatgtccatcaagcagggagtgaagttggtggtcatggacccgtttactgac ctcaccatcactatgtgcatcgtactcaacacactcttcatggcgctggagcactacaac atgacaagtgaattcgaggagatgctgcaggtcggaaacctggtcttcacagggattttc acagcagagatgaccttcaagatcattgccctcgacccctactactacttccaacagggc tggaacatcttcgacagcatcatcgtcatccttagcctcatggagctgggcctgtcccgc atgagcaacttgtcggtgctgcgctccttccgcctgctgcgggtcttcaagctggccaaa tcatggcccaccctgaacacactcatcaagatcatcgggaactcagtgggggcactgggg aacctgacactggtgctagccatcatcgtgttcatctttgctgtggtgggcatgcagctc tttggcaagaactactcggagctgagggacagcgactcaggcctgctgcctcgctggcac atgatggacttctttcatgccttcctcatcatcttccgcatcctctgtggagagtggatc gagaccatgtgggactgcatggaggtgtcggggcagtcattatgcctgctggtcttcttg cttgttatggtcattggcaaccttgtggtcctgaatctcttcctggccttgctgctcagc tccttcagtgcagacaacctcacagcccctgatgaggacagagagatgaacaacctccag ctggccctggcccgcatccagaggggcctgcgctttgtcaagcggaccacctgggatttc tgctgtggtctcctgcggcagcggcctcagaagcccgcagcccttgccgcccagggccag ctgcccagctgcattgccaccccctactccccgccacccccagagacggagaaggtgcct cccacccgcaaggaaacacggtttgaggaaggcgagcaaccaggccagggcacccccggg gatccagagcccgtgtgtgtgcccatcgctgtggccgagtcagacacagatgaccaagaa gaagatgaggagaacagcctgggcacggaggaggagtccagcaagcaggaatcccagcct gtgtccggtggcccagaggcccctccggattccaggacctggagccaggtgtcagcgact gcctcctctgaggccgaggccagtgcatctcaggccgactggcggcagcagtggaaagcg gaaccccaggccccagggtgcggtgagaccccagaggacagttgctccgagggcagcaca gcagacatgaccaacaccgctgagctcctggagcagatccctgacctcggccaggatgtc aaggacccagaggactgcttcactgaaggctgtgtccggcgctgtccctgctgtgcggtg gacaccacacaggccccagggaaggtctggtggcggttgcgcaagacctgctaccacatc gtggagcacagctggttcgagacattcatcatcttcatgatcctactcagcagtggagcg ctggccttcgaggacatctacctagaggagcggaagaccatcaaggttctgcttgagtat gccgacaagatgttcacatatgtcttcgtgctggagatgctgctcaagtgggtggcctac ggcttcaagaagtacttcaccaatgcctggtgctggctcgacttcctcatcgtagacgtc tctctggtcagcctggtggccaacaccctgggctttgccgagatgggccccatcaagtca ctgcggacgctgcgtgcactccgtcctctgagagctctgtcacgatttgagggcatgagg gtggtggtcaatgccctggtgggcgccatcccgtccatcatgaacgtcctcctcgtctgc ctcatcttctggctcatcttcagcatcatgggcgtgaacctctttgcggggaagtttggg aggtgcatcaaccagacagagggagacttgcctttgaactacaccatcgtgaacaacaag agccagtgtgagtccttgaacttgaccggagaattgtactggaccaaggtgaaagtcaac tttgacaacgtgggggccgggtacctggcccttctgcaggtggcaacatttaaaggctgg atggacattatgtatgcagctgtggactccagggggtatgaagagcagcctcagtgggaa tacaacctctacatgtacatctattttgtcattttcatcatctttgggtctttcttcacc ctgaacctctttattggtgtcatcattgacaacttcaaccaacagaagaaaaagttaggg ggccaggacatcttcatgacagaggagcagaagaagtactacaatgccatgaagaagctg ggctccaagaagccccagaagcccatcccacggcccctgaacaagtaccagggcttcata ttcgacattgtgaccaagcaggcctttgacgtcaccatcatgtttctgatctgcttgaat atggtgaccatgatggtggagacagatgaccaaagtcctgagaaaatcaacatcttggcc aagatcaacctgctctttgtggccatcttcacaggcgagtgtattgtcaagctggctgcc ctgcgccactactacttcaccaacagctggaatatcttcgacttcgtggttgtcatcctc tccatcgtgggcactgtgctctcggacatcatccagaagtacttcttctccccgacgctc ttccgagtcatccgcctggcccgaataggccgcatcctcagactgatccgaggggccaag gggatccgcacgctgctctttgccctcatgatgtccctgcctgccctcttcaacatcggg ctgctgctcttcctcgtcatgttcatctactccatctttggcatggccaacttcgcttat gtcaagtgggaggctggcatcgacgacatgttcaacttccagaccttcgccaacagcatg ctgtgcctcttccagatcaccacgtcggccggctgggatggcctcctcagccccatcctc aacactgggccgccctactgcgaccccactctgcccaacagcaatggctctcggggggac tgcgggagcccagccgtgggcatcctcttcttcaccacctacatcatcatctccttcctc atcgtggtcaacatgtacattgccatcatcctggagaacttcagcgtggccacggaggag agcaccgagcccctgagtgaggacgacttcgatatgttctatgagatctgggagaaattt gacccagaggccactcagtttattgagtattcggtcctgtctgactttgccgatgccctg tctgagccactccgtatcgccaagcccaaccagataagcctcatcaacatggacctgccc atggtgagtggggaccgcatccattgcatggacattctctttgccttcaccaaaagggtc ctgggggagtctggggagatggacgccctgaagatccagatggaggagaagttcatggca gccaacccatccaagatctcctacgagcccatcaccaccacactccggcgcaagcacgaa gaggtgtcggccatggttatccagagagccttccgcaggcacctgctgcaacgctctttg aagcatgcctccttcctcttccgtcagcaggcgggcagcggcctctccgaagaggatgcc cctgagcgagagggcctcatcgcctacgtgatgagtgagaacttctcccgaccccttggc ccaccctccagctcctccatctcctccacttccttcccaccctcctatgacagtgtcact agagccaccagcgataacctccaggtgcgggggtctgactacagccacagtgaagatctc gccgacttccccccttctccggacagggaccgtgagtccatcgtgtga |
Protein Sequence |
>6331 : length: 2015 MANFLLPRGTSSFRRFTRESLAAIEKRMAEKQARGSTTLQESREGLPEEEAPRPQLDLQA SKKLPDLYGNPPQELIGEPLEDLDPFYSTQKTFIVLNKGKTIFRFSATNALYVLSPFHPI RRAAVKILVHSLFNMLIMCTILTNCVFMAQHDPPPWTKYVEYTFTAIYTFESLVKILARG FCLHAFTFLRDPWNWLDFSVIIMAYTTEFVDLGNVSALRTFRVLRALKTISVISGLKTIV GALIQSVKKLADVMVLTVFCLSVFALIGLQLFMGNLRHKCVRNFTALNGTNGSVEADGLV WESLDLYLSDPENYLLKNGTSDVLLCGNSSDAGTCPEGYRCLKAGENPDHGYTSFDSFAW AFLALFRLMTQDCWERLYQQTLRSAGKIYMIFFMLVIFLGSFYLVNLILAVVAMAYEEQN QATIAETEEKEKRFQEAMEMLKKEHEALTIRGVDTVSRSSLEMSPLAPVNSHERRSKRRK RMSSGTEECGEDRLPKSDSEDGPRAMNHLSLTRGLSRTSMKPRSSRGSIFTFRRRDLGSE ADFADDENSTAGESESHHTSLLVPWPLRRTSAQGQPSPGTSAPGHALHGKKNSTVDCNGV VSLLGAGDPEATSPGSHLLRPVMLEHPPDTTTPSEEPGGPQMLTSQAPCVDGFEEPGARQ RALSAVSVLTSALEELEESRHKCPPCWNRLAQRYLIWECCPLWMSIKQGVKLVVMDPFTD LTITMCIVLNTLFMALEHYNMTSEFEEMLQVGNLVFTGIFTAEMTFKIIALDPYYYFQQG WNIFDSIIVILSLMELGLSRMSNLSVLRSFRLLRVFKLAKSWPTLNTLIKIIGNSVGALG NLTLVLAIIVFIFAVVGMQLFGKNYSELRDSDSGLLPRWHMMDFFHAFLIIFRILCGEWI ETMWDCMEVSGQSLCLLVFLLVMVIGNLVVLNLFLALLLSSFSADNLTAPDEDREMNNLQ LALARIQRGLRFVKRTTWDFCCGLLRQRPQKPAALAAQGQLPSCIATPYSPPPPETEKVP PTRKETRFEEGEQPGQGTPGDPEPVCVPIAVAESDTDDQEEDEENSLGTEEESSKQESQP VSGGPEAPPDSRTWSQVSATASSEAEASASQADWRQQWKAEPQAPGCGETPEDSCSEGST ADMTNTAELLEQIPDLGQDVKDPEDCFTEGCVRRCPCCAVDTTQAPGKVWWRLRKTCYHI VEHSWFETFIIFMILLSSGALAFEDIYLEERKTIKVLLEYADKMFTYVFVLEMLLKWVAY GFKKYFTNAWCWLDFLIVDVSLVSLVANTLGFAEMGPIKSLRTLRALRPLRALSRFEGMR VVVNALVGAIPSIMNVLLVCLIFWLIFSIMGVNLFAGKFGRCINQTEGDLPLNYTIVNNK SQCESLNLTGELYWTKVKVNFDNVGAGYLALLQVATFKGWMDIMYAAVDSRGYEEQPQWE YNLYMYIYFVIFIIFGSFFTLNLFIGVIIDNFNQQKKKLGGQDIFMTEEQKKYYNAMKKL GSKKPQKPIPRPLNKYQGFIFDIVTKQAFDVTIMFLICLNMVTMMVETDDQSPEKINILA KINLLFVAIFTGECIVKLAALRHYYFTNSWNIFDFVVVILSIVGTVLSDIIQKYFFSPTL FRVIRLARIGRILRLIRGAKGIRTLLFALMMSLPALFNIGLLLFLVMFIYSIFGMANFAY VKWEAGIDDMFNFQTFANSMLCLFQITTSAGWDGLLSPILNTGPPYCDPTLPNSNGSRGD CGSPAVGILFFTTYIIISFLIVVNMYIAIILENFSVATEESTEPLSEDDFDMFYEIWEKF DPEATQFIEYSVLSDFADALSEPLRIAKPNQISLINMDLPMVSGDRIHCMDILFAFTKRV LGESGEMDALKIQMEEKFMAANPSKISYEPITTTLRRKHEEVSAMVIQRAFRRHLLQRSL KHASFLFRQQAGSGLSEEDAPEREGLIAYVMSENFSRPLGPPSSSSISSTSFPPSYDSVT RATSDNLQVRGSDYSHSEDLADFPPSPDRDRESIV |