KEGG   Homo sapiens (human): 6324Help
Entry
6324              CDS       T01001                                 

Gene name
SCN1B, ATFB13, BRGDA5, EIEE52, GEFSP1
Definition
(RefSeq) sodium voltage-gated channel beta subunit 1
  KO
K04845  voltage-gated sodium channel type I beta
Organism
hsa  Homo sapiens (human)
Pathway
hsa04261  Adrenergic signaling in cardiomyocytes
Disease
H00728  Brugada syndrome
H00731  Atrial fibrillation
H00783  Febrile seizures
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09153 Circulatory system
   04261 Adrenergic signaling in cardiomyocytes
    6324 (SCN1B)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    6324 (SCN1B)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Sodium channel, voltage-gated (Nav)
   6324 (SCN1B)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: V-set Ig_3 DUF5326 Ig_2
Motif
Other DBs
NCBI-GeneID: 6324
NCBI-ProteinID: NP_001028
OMIM: 600235
HGNC: 10586
Ensembl: ENSG00000105711
Vega: OTTHUMG00000182472
Pharos: Q07699(Tbio)
UniProt: Q07699
Structure
PDB: 

Position
19q13.11
AA seq 218 aa AA seqDB search
MGRLLALVVGAALVSSACGGCVEVDSETEAVYGMTFKILCISCKRRSETNAETFTEWTFR
QKGTEEFVKILRYENEVLQLEEDERFEGRVVWNGSRGTKDLQDLSIFITNVTYNHSGDYE
CHVYRLLFFENYEHNTSVVKKIHIEVVDKANRDMASIVSEIMMYVLIVVLTIWLVAEMIY
CYKKIAAATETAAQENASEYLAITSESKENCTGVQVAE
NT seq 657 nt NT seq  +upstreamnt  +downstreamnt
atggggaggctgctggccttagtggtcggcgcggcactggtgtcctcagcctgcgggggc
tgcgtggaggtggactcggagaccgaggccgtgtatgggatgaccttcaaaattctttgc
atctcctgcaagcgccgcagcgagaccaacgctgagaccttcaccgagtggaccttccgc
cagaagggcactgaggagtttgtcaagatcctgcgctatgagaatgaggtgttgcagctg
gaggaggatgagcgcttcgagggccgcgtggtgtggaatggcagccggggcaccaaagac
ctgcaggatctgtctatcttcatcaccaatgtcacctacaaccactcgggcgactacgag
tgccacgtctaccgcctgctcttcttcgaaaactacgagcacaacaccagcgtcgtcaag
aagatccacattgaggtagtggacaaagccaacagagacatggcatccatcgtgtctgag
atcatgatgtatgtgctcattgtggtgttgaccatatggctcgtggcagagatgatttac
tgctacaagaagatcgctgccgccacggagactgctgcacaggagaatgcctcggaatac
ctggccatcacctctgaaagcaaagagaactgcacgggcgtccaggtggccgaatag

KEGG   Homo sapiens (human): 6330Help
Entry
6330              CDS       T01001                                 

Gene name
SCN4B, ATFB17, LQT10, Navbeta4
Definition
(RefSeq) sodium voltage-gated channel beta subunit 4
  KO
K04848  voltage-gated sodium channel type IV beta
Organism
hsa  Homo sapiens (human)
Pathway
hsa04261  Adrenergic signaling in cardiomyocytes
Disease
H00720  Long QT syndrome
H00731  Atrial fibrillation
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09153 Circulatory system
   04261 Adrenergic signaling in cardiomyocytes
    6330 (SCN4B)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    6330 (SCN4B)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Sodium channel, voltage-gated (Nav)
   6330 (SCN4B)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: V-set Ig_3 I-set ig Glycophorin_A Ig_2 TMEM154 DUF5385 TRP Syndecan Marek_A
Motif
Other DBs
NCBI-GeneID: 6330
NCBI-ProteinID: NP_777594
OMIM: 608256
HGNC: 10592
Ensembl: ENSG00000177098
Vega: OTTHUMG00000166994
Pharos: Q8IWT1(Tbio)
UniProt: Q8IWT1 B0YJ93
Structure
PDB: 

Position
11q23.3
AA seq 228 aa AA seqDB search
MPGAGDGGKAPARWLGTGLLGLFLLPVTLSLEVSVGKATDIYAVNGTEILLPCTFSSCFG
FEDLHFRWTYNSSDAFKILIEGTVKNEKSDPKVTLKDDDRITLVGSTKEKMNNISIVLRD
LEFSDTGKYTCHVKNPKENNLQHHATIFLQVVDRLEEVDNTVTLIILAVVGGVIGLLILI
LLIKKLIIFILKKTREKKKECLVSSSGNDNTENGLPGSKAEEKPPSKV
NT seq 687 nt NT seq  +upstreamnt  +downstreamnt
atgcccggggctggggacggaggcaaagccccggcgagatggctgggcactgggcttttg
ggcctcttcctgctccccgtaaccctgtcgctggaggtgtctgtgggaaaggccaccgac
atctacgctgtcaatggcacggagatcctgctgccctgcaccttctccagctgctttggc
ttcgaggacctccacttccggtggacctacaacagcagtgacgcattcaagattctcata
gaggggactgtgaagaatgagaagtctgaccccaaggtgacgttgaaagacgatgaccgc
atcactctggtaggctctactaaggagaagatgaacaacatttccattgtgctgagggac
ctggagttcagcgacacgggcaaatacacctgccatgtgaagaaccccaaggagaataat
ctccagcaccacgccaccatcttcctccaagtcgttgatagactggaagaagtggacaac
acagtgacactcatcatcctggctgtcgtgggcggggtcatcgggctcctcatcctcatc
ctgctgatcaagaaactcatcatcttcatcctgaagaagactcgggagaagaagaaggag
tgtctcgtgagctcctcggggaatgacaacacggagaacggcttgcctggctccaaggca
gaggagaaaccaccttcaaaagtgtga

KEGG   Homo sapiens (human): 6331Help
Entry
6331              CDS       T01001                                 

Gene name
SCN5A, CDCD2, CMD1E, CMPD2, HB1, HB2, HBBD, HH1, ICCD, IVF, LQT3, Nav1.5, PFHB1, SSS1, VF1
Definition
(RefSeq) sodium voltage-gated channel alpha subunit 5
  KO
K04838  voltage-gated sodium channel type V alpha
Organism
hsa  Homo sapiens (human)
Pathway
hsa04261  Adrenergic signaling in cardiomyocytes
Disease
H00294  Dilated cardiomyopathy
H00720  Long QT syndrome
H00728  Brugada syndrome
H00729  Sick sinus syndrome
H00730  Familial idiopathic ventricular fibrillation
H00731  Atrial fibrillation
H01263  Progressive cardiac conduction defect (PCCD)
Drug target
Actisomide: D02762
Ajmaline: D00199
Aminobenzoic acid (DG00379): D02456 D02906 D02907
Amiodarone (DG00204): D00636 D02910
Aprindine (DG00199): D01326 D02969
Articaine (DG00805): D02991 D07468
Benzocaine: D00552
Bupivacaine (DG00801): D01450 D07552
Carbamazepine: D00252
Chloroprocaine (DG00800): D00732 D07678
Cibenzoline (DG00209): D01455 D03492
Cinchocaine (DG00297): D00733 D02220
Cocaine (DG00808): D00110 D02182
Disopyramide (DG00194): D00303 D00637
Eleclazine: D11155
Encainide (DG00203): D03991 D07894
Eslicarbazepine (DG00848): D09215 D09612
Ethyl piperidinoacetylaminobenzoate: D01519
Etidocaine (DG00804): D00737 D04095
Flecainide (DG00201): D00638 D07962
Fosphenytoin (DG00847): D02096 D07595 D07993
Indecainide hydrochloride: D04521
Lamotrigine: D00354
Levobupivacaine (DG00807): D01287 D08116
Levosemotiadil fumarate: D09833
Lidocaine (DG00196): D00358 D02086 D08127
Lorajmine: D04774
Mephenytoin: D00375
Mepivacaine (DG00802): D00738 D08181
Mexiletine (DG00197): D00639 D08215
Moracizine (DG00208): D02087 D05077
Oxcarbazepine: D00533
Oxetacaine (DG00299): D01152 D08311
Oxybuprocaine (DG00392): D01768 D08319
Phenytoin (DG00846): D00512 D02103
Pilsicainide (DG01257): D01554 D08377
Pirmenol (DG01381): D01785 D06517 D08394
Pramocaine (DG00300): D00739 D08407
Prilocaine (DG00803): D00553 D01243
Procainamide (DG00193): D00477 D08421
Procaine (DG00298): D00740 D08422
Propafenone (DG00200): D00640 D08435
Proxymetacaine (DG01145): D02098 D08448
Quinidine (DG00192): D00642 D00643 D02272 D08458 D08459
Recainam (DG01421): D05708 D05709
Ropivacaine (DG00806): D04048 D08490
Rufinamide: D05775
Sparteine (DG00195): D01041 D02239
Tetracaine (DG00296): D00551 D00741
Tocainide (DG00198): D02088 D06172
Topiramate: D00537
Transcainide: D06203
Vernakalant: D06665
Zonisamide: D00538
p-Butylaminobenzoyldiethylaminoethyl hydrochloride: D01967
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09153 Circulatory system
   04261 Adrenergic signaling in cardiomyocytes
    6331 (SCN5A)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    6331 (SCN5A)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Sodium channel, voltage-gated (Nav)
   6331 (SCN5A)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Ion_trans Na_trans_assoc Na_trans_cytopl PKD_channel GPHH IQ
Motif
Other DBs
NCBI-GeneID: 6331
NCBI-ProteinID: NP_001092874
OMIM: 600163
HGNC: 10593
Ensembl: ENSG00000183873
Vega: OTTHUMG00000156166
Pharos: Q14524(Tclin)
UniProt: Q14524 H9KVD2
Structure
PDB: 

Position
3p22.2
AA seq 2016 aa AA seqDB search
MANFLLPRGTSSFRRFTRESLAAIEKRMAEKQARGSTTLQESREGLPEEEAPRPQLDLQA
SKKLPDLYGNPPQELIGEPLEDLDPFYSTQKTFIVLNKGKTIFRFSATNALYVLSPFHPI
RRAAVKILVHSLFNMLIMCTILTNCVFMAQHDPPPWTKYVEYTFTAIYTFESLVKILARG
FCLHAFTFLRDPWNWLDFSVIIMAYVSENIKLGNLSALRTFRVLRALKTISVIPGLKTIV
GALIQSVKKLADVMVLTVFCLSVFALIGLQLFMGNLRHKCVRNFTALNGTNGSVEADGLV
WESLDLYLSDPENYLLKNGTSDVLLCGNSSDAGTCPEGYRCLKAGENPDHGYTSFDSFAW
AFLALFRLMTQDCWERLYQQTLRSAGKIYMIFFMLVIFLGSFYLVNLILAVVAMAYEEQN
QATIAETEEKEKRFQEAMEMLKKEHEALTIRGVDTVSRSSLEMSPLAPVNSHERRSKRRK
RMSSGTEECGEDRLPKSDSEDGPRAMNHLSLTRGLSRTSMKPRSSRGSIFTFRRRDLGSE
ADFADDENSTAGESESHHTSLLVPWPLRRTSAQGQPSPGTSAPGHALHGKKNSTVDCNGV
VSLLGAGDPEATSPGSHLLRPVMLEHPPDTTTPSEEPGGPQMLTSQAPCVDGFEEPGARQ
RALSAVSVLTSALEELEESRHKCPPCWNRLAQRYLIWECCPLWMSIKQGVKLVVMDPFTD
LTITMCIVLNTLFMALEHYNMTSEFEEMLQVGNLVFTGIFTAEMTFKIIALDPYYYFQQG
WNIFDSIIVILSLMELGLSRMSNLSVLRSFRLLRVFKLAKSWPTLNTLIKIIGNSVGALG
NLTLVLAIIVFIFAVVGMQLFGKNYSELRDSDSGLLPRWHMMDFFHAFLIIFRILCGEWI
ETMWDCMEVSGQSLCLLVFLLVMVIGNLVVLNLFLALLLSSFSADNLTAPDEDREMNNLQ
LALARIQRGLRFVKRTTWDFCCGLLRQRPQKPAALAAQGQLPSCIATPYSPPPPETEKVP
PTRKETRFEEGEQPGQGTPGDPEPVCVPIAVAESDTDDQEEDEENSLGTEEESSKQQESQ
PVSGGPEAPPDSRTWSQVSATASSEAEASASQADWRQQWKAEPQAPGCGETPEDSCSEGS
TADMTNTAELLEQIPDLGQDVKDPEDCFTEGCVRRCPCCAVDTTQAPGKVWWRLRKTCYH
IVEHSWFETFIIFMILLSSGALAFEDIYLEERKTIKVLLEYADKMFTYVFVLEMLLKWVA
YGFKKYFTNAWCWLDFLIVDVSLVSLVANTLGFAEMGPIKSLRTLRALRPLRALSRFEGM
RVVVNALVGAIPSIMNVLLVCLIFWLIFSIMGVNLFAGKFGRCINQTEGDLPLNYTIVNN
KSQCESLNLTGELYWTKVKVNFDNVGAGYLALLQVATFKGWMDIMYAAVDSRGYEEQPQW
EYNLYMYIYFVIFIIFGSFFTLNLFIGVIIDNFNQQKKKLGGQDIFMTEEQKKYYNAMKK
LGSKKPQKPIPRPLNKYQGFIFDIVTKQAFDVTIMFLICLNMVTMMVETDDQSPEKINIL
AKINLLFVAIFTGECIVKLAALRHYYFTNSWNIFDFVVVILSIVGTVLSDIIQKYFFSPT
LFRVIRLARIGRILRLIRGAKGIRTLLFALMMSLPALFNIGLLLFLVMFIYSIFGMANFA
YVKWEAGIDDMFNFQTFANSMLCLFQITTSAGWDGLLSPILNTGPPYCDPTLPNSNGSRG
DCGSPAVGILFFTTYIIISFLIVVNMYIAIILENFSVATEESTEPLSEDDFDMFYEIWEK
FDPEATQFIEYSVLSDFADALSEPLRIAKPNQISLINMDLPMVSGDRIHCMDILFAFTKR
VLGESGEMDALKIQMEEKFMAANPSKISYEPITTTLRRKHEEVSAMVIQRAFRRHLLQRS
LKHASFLFRQQAGSGLSEEDAPEREGLIAYVMSENFSRPLGPPSSSSISSTSFPPSYDSV
TRATSDNLQVRGSDYSHSEDLADFPPSPDRDRESIV
NT seq 6051 nt NT seq  +upstreamnt  +downstreamnt
atggcaaacttcctattacctcggggcaccagcagcttccgcaggttcacacgggagtcc
ctggcagccatcgagaagcgcatggcagagaagcaagcccgcggctcaaccaccttgcag
gagagccgagaggggctgcccgaggaggaggctccccggccccagctggacctgcaggcc
tccaaaaagctgccagatctctatggcaatccaccccaagagctcatcggagagcccctg
gaggacctggaccccttctatagcacccaaaagactttcatcgtactgaataaaggcaag
accatcttccggttcagtgccaccaacgccttgtatgtcctcagtcccttccaccccatc
cggagagcggctgtgaagattctggttcactcgctcttcaacatgctcatcatgtgcacc
atcctcaccaactgcgtgttcatggcccagcacgaccctccaccctggaccaagtatgtc
gagtacaccttcaccgccatttacacctttgagtctctggtcaagattctggctcgaggc
ttctgcctgcacgcgttcactttccttcgggacccatggaactggctggactttagtgtg
attatcatggcgtatgtatcagaaaatataaaactaggcaatttgtcggctcttcgaact
ttcagagtcctgagagctctaaaaactatttcagttatcccagggctgaagaccatcgtg
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
gaagatgaggagaacagcctgggcacggaggaggagtccagcaagcagcaggaatcccag
cctgtgtccggtggcccagaggcccctccggattccaggacctggagccaggtgtcagcg
actgcctcctctgaggccgaggccagtgcatctcaggccgactggcggcagcagtggaaa
gcggaaccccaggccccagggtgcggtgagaccccagaggacagttgctccgagggcagc
acagcagacatgaccaacaccgctgagctcctggagcagatccctgacctcggccaggat
gtcaaggacccagaggactgcttcactgaaggctgtgtccggcgctgtccctgctgtgcg
gtggacaccacacaggccccagggaaggtctggtggcggttgcgcaagacctgctaccac
atcgtggagcacagctggttcgagacattcatcatcttcatgatcctactcagcagtgga
gcgctggccttcgaggacatctacctagaggagcggaagaccatcaaggttctgcttgag
tatgccgacaagatgttcacatatgtcttcgtgctggagatgctgctcaagtgggtggcc
tacggcttcaagaagtacttcaccaatgcctggtgctggctcgacttcctcatcgtagac
gtctctctggtcagcctggtggccaacaccctgggctttgccgagatgggccccatcaag
tcactgcggacgctgcgtgcactccgtcctctgagagctctgtcacgatttgagggcatg
agggtggtggtcaatgccctggtgggcgccatcccgtccatcatgaacgtcctcctcgtc
tgcctcatcttctggctcatcttcagcatcatgggcgtgaacctctttgcggggaagttt
gggaggtgcatcaaccagacagagggagacttgcctttgaactacaccatcgtgaacaac
aagagccagtgtgagtccttgaacttgaccggagaattgtactggaccaaggtgaaagtc
aactttgacaacgtgggggccgggtacctggcccttctgcaggtggcaacatttaaaggc
tggatggacattatgtatgcagctgtggactccagggggtatgaagagcagcctcagtgg
gaatacaacctctacatgtacatctattttgtcattttcatcatctttgggtctttcttc
accctgaacctctttattggtgtcatcattgacaacttcaaccaacagaagaaaaagtta
gggggccaggacatcttcatgacagaggagcagaagaagtactacaatgccatgaagaag
ctgggctccaagaagccccagaagcccatcccacggcccctgaacaagtaccagggcttc
atattcgacattgtgaccaagcaggcctttgacgtcaccatcatgtttctgatctgcttg
aatatggtgaccatgatggtggagacagatgaccaaagtcctgagaaaatcaacatcttg
gccaagatcaacctgctctttgtggccatcttcacaggcgagtgtattgtcaagctggct
gccctgcgccactactacttcaccaacagctggaatatcttcgacttcgtggttgtcatc
ctctccatcgtgggcactgtgctctcggacatcatccagaagtacttcttctccccgacg
ctcttccgagtcatccgcctggcccgaataggccgcatcctcagactgatccgaggggcc
aaggggatccgcacgctgctctttgccctcatgatgtccctgcctgccctcttcaacatc
gggctgctgctcttcctcgtcatgttcatctactccatctttggcatggccaacttcgct
tatgtcaagtgggaggctggcatcgacgacatgttcaacttccagaccttcgccaacagc
atgctgtgcctcttccagatcaccacgtcggccggctgggatggcctcctcagccccatc
ctcaacactgggccgccctactgcgaccccactctgcccaacagcaatggctctcggggg
gactgcgggagcccagccgtgggcatcctcttcttcaccacctacatcatcatctccttc
ctcatcgtggtcaacatgtacattgccatcatcctggagaacttcagcgtggccacggag
gagagcaccgagcccctgagtgaggacgacttcgatatgttctatgagatctgggagaaa
tttgacccagaggccactcagtttattgagtattcggtcctgtctgactttgccgatgcc
ctgtctgagccactccgtatcgccaagcccaaccagataagcctcatcaacatggacctg
cccatggtgagtggggaccgcatccattgcatggacattctctttgccttcaccaaaagg
gtcctgggggagtctggggagatggacgccctgaagatccagatggaggagaagttcatg
gcagccaacccatccaagatctcctacgagcccatcaccaccacactccggcgcaagcac
gaagaggtgtcggccatggttatccagagagccttccgcaggcacctgctgcaacgctct
ttgaagcatgcctccttcctcttccgtcagcaggcgggcagcggcctctccgaagaggat
gcccctgagcgagagggcctcatcgcctacgtgatgagtgagaacttctcccgacccctt
ggcccaccctccagctcctccatctcctccacttccttcccaccctcctatgacagtgtc
actagagccaccagcgataacctccaggtgcgggggtctgactacagccacagtgaagat
ctcgccgacttccccccttctccggacagggaccgtgagtccatcgtgtga

KEGG   Homo sapiens (human): 6332Help
Entry
6332              CDS       T01001                                 

Gene name
SCN7A, NaG, Nav2.1, Nav2.2, SCN6A
Definition
(RefSeq) sodium voltage-gated channel alpha subunit 7
  KO
K04839  voltage-gated sodium channel type VII alpha
Organism
hsa  Homo sapiens (human)
Pathway
hsa04261  Adrenergic signaling in cardiomyocytes
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09153 Circulatory system
   04261 Adrenergic signaling in cardiomyocytes
    6332 (SCN7A)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    6332 (SCN7A)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Sodium channel, voltage-gated (Nav)
   6332 (SCN7A)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Ion_trans Na_trans_assoc GPHH IQ
Motif
Other DBs
NCBI-GeneID: 6332
NCBI-ProteinID: NP_002967
OMIM: 182392
HGNC: 10594
Ensembl: ENSG00000136546
Vega: OTTHUMG00000154078
Pharos: Q01118(Tclin)
UniProt: Q01118
Position
2q24.3
AA seq 1682 aa AA seqDB search
MLASPEPKGLVPFTKESFELIKQHIAKTHNEDHEEEDLKPTPDLEVGKKLPFIYGNLSQG
MVSEPLEDVDPYYYKKKNTFIVLNKNRTIFRFNAASILCTLSPFNCIRRTTIKVLVHPFF
QLFILISVLIDCVFMSLTNLPKWRPVLENTLLGIYTFEILVKLFARGVWAGSFSFLGDPW
NWLDFSVTVFEVIIRYSPLDFIPTLQTARTLRILKIIPLNQGLKSLVGVLIHCLKQLIGV
IILTLFFLSIFSLIGMGLFMGNLKHKCFRWPQENENETLHNRTGNPYYIRETENFYYLEG
ERYALLCGNRTDAGQCPEGYVCVKAGINPDQGFTNFDSFGWALFALFRLMAQDYPEVLYH
QILYASGKVYMIFFVVVSFLFSFYMASLFLGILAMAYEEEKQRVGEISKKIEPKFQQTGK
ELQEGNETDEAKTIQIEMKKRSPISTDTSLDVLEDATLRHKEELEKSKKICPLYWYKFAK
TFLIWNCSPCWLKLKEFVHRIIMAPFTDLFLIICIILNVCFLTLEHYPMSKQTNTLLNIG
NLVFIGIFTAEMIFKIIAMHPYGYFQVGWNIFDSMIVFHGLIELCLANVAGMALLRLFRM
LRIFKLGKYWPTFQILMWSLSNSWVALKDLVLLLFTFIFFSAAFGMKLFGKNYEEFVCHI
DKDCQLPRWHMHDFFHSFLNVFRILCGEWVETLWDCMEVAGQSWCIPFYLMVILIGNLLV
LYLFLALVSSFSSCKDVTAEENNEAKNLQLAVARIKKGINYVLLKILCKTQNVPKDTMDH
VNEVYVKEDISDHTLSELSNTQDFLKDKEKSSGTEKNATENESQSLIPSPSVSETVPIAS
GESDIENLDNKEIQSKSGDGGSKEKIKQSSSSECSTVDIAISEEEEMFYGGERSKHLKNG
CRRGSSLGQISGASKKGKIWQNIRKTCCKIVENNWFKCFIGLVTLLSTGTLAFEDIYMDQ
RKTIKILLEYADMIFTYIFILEMLLKWMAYGFKAYFSNGWYRLDFVVVIVFCLSLIGKTR
EELKPLISMKFLRPLRVLSQFERMKVVVRALIKTTLPTLNVFLVCLMIWLIFSIMGVDLF
AGRFYECIDPTSGERFPSSEVMNKSRCESLLFNESMLWENAKMNFDNVGNGFLSLLQVAT
FNGWITIMNSAIDSVAVNIQPHFEVNIYMYCYFINFIIFGVFLPLSMLITVIIDNFNKHK
IKLGGSNIFITVKQRKQYRRLKKLMYEDSQRPVPRPLNKLQGFIFDVVTSQAFNVIVMVL
ICFQAIAMMIDTDVQSLQMSIALYWINSIFVMLYTMECILKLIAFRCFYFTIAWNIFDFM
VVIFSITGLCLPMTVGSYLVPPSLVQLILLSRIIHMLRLGKGPKVFHNLMLPLMLSLPAL
LNIILLIFLVMFIYAVFGMYNFAYVKKEAGINDVSNFETFGNSMLCLFQVAIFAGWDGML
DAIFNSKWSDCDPDKINPGTQVRGDCGNPSVGIFYFVSYILISWLIIVNMYIVVVMEFLN
IASKKKNKTLSEDDFRKFFQVWKRFDPDRTQYIDSSKLSDFAAALDPPLFMAKPNKGQLI
ALDLPMAVGDRIHCLDILLAFTKRVMGQDVRMEKVVSEIESGFLLANPFKITCEPITTTL
KRKQEAVSATIIQRAYKNYRLRRNDKNTSDIHMIDGDRDVHATKEGAYFDKAKEKSPIQS
QI
NT seq 5049 nt NT seq  +upstreamnt  +downstreamnt
atgttggcttcaccagaacctaagggccttgttcccttcactaaagagtcttttgaactt
ataaaacagcatattgctaaaacacataatgaagaccatgaagaagaagacttaaagcca
actcctgatttggaagttggcaaaaagcttccatttatttatggaaacctttctcaagga
atggtgtcagagcccttggaagatgtggacccatattactacaagaaaaaaaatactttc
atagtattaaataaaaatagaacaatcttcagattcaatgcggcttccatcttgtgtaca
ttgtctcctttcaattgtattagaagaacaactatcaaggttttggtacatccctttttc
caactgtttattctaattagtgtcctgattgattgcgtattcatgtccctgactaatttg
ccaaaatggagaccagtattagagaatactttgcttggaatttacacatttgaaatactt
gtaaaactctttgcaagaggtgtctgggcaggatcattttccttcctcggtgatccatgg
aactggctcgatttcagcgtaactgtgtttgaggttattataagatactcacctctggac
ttcattccaacgcttcaaactgcaagaactttgagaattttaaaaattattcctttaaat
caaggtctgaaatcccttgtaggggtcctgatccactgcttgaagcagcttattggtgtc
attatcctaactctgttttttctgagcatattttctctaattgggatggggctcttcatg
ggcaacttgaaacataaatgttttcgatggccccaagagaatgaaaatgaaaccctgcac
aacagaactggaaacccatattatattcgagaaacagaaaacttttattatttggaagga
gaaagatatgctctcctttgtggcaacaggacagatgctggtcagtgtcctgaaggatat
gtgtgtgtaaaagctggcataaatcctgatcaaggcttcacaaattttgacagttttggc
tgggccttatttgccctatttcggttaatggctcaggattaccctgaagtactttatcac
cagatactttatgcttctgggaaggtctacatgatattttttgtggtggtaagttttttg
ttttccttttatatggcaagtttgttcttaggcatacttgccatggcctatgaagaagaa
aagcagagagttggtgaaatatctaagaagattgaaccaaaatttcaacagactggaaaa
gaacttcaagaaggaaatgaaacagatgaggccaagaccatacaaatagaaatgaagaaa
aggtcaccaatttccacagacacatcattggatgtgttggaagatgctactctcagacat
aaggaagaacttgaaaaatccaagaagatatgcccattatactggtataagtttgctaaa
actttcttgatctggaattgttctccctgttggttaaaattgaaagagtttgtccatagg
attataatggcaccatttactgatcttttccttatcatatgcataattttaaacgtatgt
tttctgaccttggagcattatccaatgagtaaacaaactaacactcttctcaacattgga
aacctggttttcattggaattttcacagcagaaatgatttttaaaataattgcaatgcat
ccatatgggtatttccaagtaggttggaacatttttgatagcatgatagtgttccatggt
ttaatagaactttgtctagcaaatgttgcaggaatggctcttcttcgattattcaggatg
ttaagaattttcaagttgggaaagtattggccaacattccagattttgatgtggtctctt
agtaactcatgggtggccctgaaagacttggtcctgttgttgttcacattcatcttcttt
tctgctgcattcggcatgaagctgtttggtaagaattatgaagaatttgtctgccacata
gacaaagactgtcaactcccacgctggcacatgcatgactttttccactccttcctgaat
gtgttccgaattctctgtggagagtgggtagagaccttgtgggactgtatggaggttgca
ggccaatcctggtgtattcctttttacctgatggtcattttaattggaaatttactggta
ctttacctgtttctggcattggtgagctcatttagttcatgcaaggatgtaacagctgaa
gagaataatgaagcaaaaaatctccagcttgcagtggcaagaattaaaaaaggaataaac
tatgtgcttcttaaaatactatgcaaaacacaaaatgtcccaaaggacacaatggaccat
gtaaatgaggtatatgttaaagaagatatttctgaccataccctttctgaattgagcaac
acccaagattttctcaaagataaggaaaaaagcagtggcacagagaaaaacgctactgaa
aatgagagccaatcacttatccccagtcctagtgtctcagaaactgtaccaattgcttca
ggagaatctgatatagaaaatctggataataaggagattcagagtaagtctggtgatgga
ggcagcaaagagaaaataaagcaatctagctcatctgaatgcagtactgttgatattgct
atctctgaagaagaagaaatgttctatggaggtgaaagatcaaagcatctgaaaaatggt
tgcagacgcggatcttcacttggtcaaatcagtggagcatccaagaaaggaaaaatctgg
cagaacatcaggaaaacctgctgcaagattgtagagaacaattggtttaagtgttttatt
gggcttgttactctgctcagcactggcactctggcttttgaagatatatatatggatcag
agaaagacaattaaaattttattagaatatgctgacatgatctttacttatatcttcatt
ctggaaatgcttctaaaatggatggcatatggttttaaggcctatttctctaatggctgg
tacaggctggacttcgtggttgttattgtgttttgtcttagcttaataggcaaaactcgg
gaagaactaaaacctcttatttccatgaaattccttcggcccctcagagttctatctcaa
tttgaaagaatgaaggtggttgtgagagctttgatcaaaacaaccttacccactttgaat
gtgtttcttgtctgcctgatgatctggctgatttttagtatcatgggagtagacttattt
gctggcagattctatgaatgcattgacccaacaagtggagaaaggtttccttcatctgaa
gtcatgaataagagtcggtgtgaaagccttctgtttaacgaatccatgctatgggaaaat
gcaaaaatgaactttgataatgttggaaatggtttcctttctctgcttcaagtagcaaca
tttaatggatggatcactattatgaattcagcaattgattctgttgctgttaatatacag
cctcattttgaagtcaacatctacatgtattgttactttatcaactttattatatttgga
gtatttctccctctgagtatgctgattactgttattattgataatttcaacaagcataaa
ataaagctgggaggctcaaatatctttataacggttaaacagagaaaacagtaccgcagg
ctgaagaagctaatgtatgaggattctcaaagaccagtacctcgcccattaaacaagctc
caaggattcatctttgatgtggtaacaagccaagcttttaatgtcattgttatggttctt
atatgtttccaagcaatagccatgatgatagacactgatgttcagagtctacaaatgtcc
attgctctctactggattaactcaatttttgttatgctatatactatggaatgtatactg
aagctcatcgctttccgttgtttttatttcaccattgcgtggaacatttttgattttatg
gtggttattttctccatcacaggactatgtctgcctatgacagtaggatcctaccttgtg
cctccttcacttgtgcaactgatacttctctcacggatcattcacatgctgcgtcttgga
aaaggaccaaaggtgtttcataatctgatgcttcctttgatgctgtccctcccagcatta
ttgaacatcattcttctcatcttcctggtcatgttcatctatgccgtatttggaatgtat
aattttgcctatgttaaaaaagaagctggaattaatgatgtgtctaattttgaaaccttt
ggcaacagtatgctctgtctttttcaagttgcaatatttgctggttgggatgggatgctt
gatgcaattttcaacagtaaatggtctgactgtgatcctgataaaattaaccctgggact
caagttagaggagattgtgggaacccctctgttgggattttttattttgtcagttatatc
ctcatatcatggctgatcattgtaaatatgtacattgttgttgtcatggagtttttaaat
attgcttctaagaagaaaaacaagaccttgagtgaagatgattttaggaaattctttcag
gtatggaaaaggtttgatcctgataggacccagtacatagactctagcaagctttcagat
tttgcagctgctcttgatcctcctcttttcatggcaaaaccaaacaagggccagctcatt
gctttggacctccccatggctgttggggacagaattcattgcctcgatatcttacttgct
tttacaaagagagttatgggtcaagatgtgaggatggagaaagttgtttcagaaatagaa
tcagggtttttgttagccaacccttttaagatcacatgtgagccaattacgactactttg
aaacgaaaacaagaggcagtttcagcaaccatcattcaacgtgcttataaaaattaccgc
ttgaggcgaaatgacaaaaatacatcagatattcatatgatagatggtgacagagatgtt
catgctactaaagaaggtgcctattttgacaaagctaaggaaaagtcacctattcaaagc
cagatctaa

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