| Entry |
|
| Gene name |
SCN9A, ETHA, FEB3B, GEFSP7, NE-NA, NENA, Nav1.7, PN1, SFNP
|
| Definition |
sodium channel, voltage-gated, type IX, alpha subunit
|
| Orthology |
| voltage-gated sodium channel type IX alpha |
|
| Organism |
|
| Disease |
| Inherited erythromelalgia (IEM) | | Paroxysmal extreme pain disorder (PEPD) | | Nav1.7-associated congenital insensitivity to pain (CIP) | | Febrile seizures |
|
| Drug target |
Quinidine: Procainamide: Disopyramide: Ajmaline: Lidocaine: Mexiletine: Tocainide: Aprindine: Propafenone: Flecainide: Encainide: Bunaftine: Moracizine: Cibenzoline: Tetracaine: Benzocaine: Cinchocaine: Procaine: Chloroprocaine: Bupivacaine: Mepivacaine: Ropivacaine: Levobupivacaine: Cocaine: Dyclonine: Phenytoin: Mephenytoin: Fosphenytoin: Carbamazepine: Oxcarbazepine: Eslicarbazepine: Lamotrigine: Topiramate: Zonisamide: Ambroxol: Other: |
| Class |
|
| SSDB |
   |
| Motif |
 |
| Other DBs |
NCBI-GI: NCBI-GeneID: OMIM: HGNC: HPRD: Ensembl: Vega: UniProt: |
| Position |
2q24
|
| AA seq |
1977 aa  
MAMLPPPGPQSFVHFTKQSLALIEQRIAERKSKEPKEEKKDDDEEAPKPSSDLEAGKQLP
FIYGDIPPGMVSEPLEDLDPYYADKKTFIVLNKGKTIFRFNATPALYMLSPFSPLRRISI
KILVHSLFSMLIMCTILTNCIFMTMNNPPDWTKNVEYTFTGIYTFESLVKILARGFCVGE
FTFLRDPWNWLDFVVIVFAYLTEFVNLGNVSALRTFRVLRALKTISVIPGLKTIVGALIQ
SVKKLSDVMILTVFCLSVFALIGLQLFMGNLKHKCFRNSLENNETLESIMNTLESEEDFR
KYFYYLEGSKDALLCGFSTDSGQCPEGYTCVKIGRNPDYGYTSFDTFSWAFLALFRLMTQ
DYWENLYQQTLRAAGKTYMIFFVVVIFLGSFYLINLILAVVAMAYEEQNQANIEEAKQKE
LEFQQMLDRLKKEQEEAEAIAAAAAEYTSIRRSRIMGLSESSSETSKLSSKSAKERRNRR
KKKNQKKLSSGEEKGDAEKLSKSESEDSIRRKSFHLGVEGHRRAHEKRLSTPNQSPLSIR
GSLFSARRSSRTSLFSFKGRGRDIGSETEFADDEHSIFGDNESRRGSLFVPHRPQERRSS
NISQASRSPPMLPVNGKMHSAVDCNGVVSLVDGRSALMLPNGQLLPEGTTNQIHKKRRCS
SYLLSEDMLNDPNLRQRAMSRASILTNTVEELEESRQKCPPWWYRFAHKFLIWNCSPYWI
KFKKCIYFIVMDPFVDLAITICIVLNTLFMAMEHHPMTEEFKNVLAIGNLVFTGIFAAEM
VLKLIAMDPYEYFQVGWNIFDSLIVTLSLVELFLADVEGLSVLRSFRLLRVFKLAKSWPT
LNMLIKIIGNSVGALGNLTLVLAIIVFIFAVVGMQLFGKSYKECVCKINDDCTLPRWHMN
DFFHSFLIVFRVLCGEWIETMWDCMEVAGQAMCLIVYMMVMVIGNLVVLNLFLALLLSSF
SSDNLTAIEEDPDANNLQIAVTRIKKGINYVKQTLREFILKAFSKKPKISREIRQAEDLN
TKKENYISNHTLAEMSKGHNFLKEKDKISGFGSSVDKHLMEDSDGQSFIHNPSLTVTVPI
APGESDLENMNAEELSSDSDSEYSKVRLNRSSSSECSTVDNPLPGEGEEAEAEPMNSDEP
EACFTDGCVRRFSCCQVNIESGKGKIWWNIRKTCYKIVEHSWFESFIVLMILLSSGALAF
EDIYIERKKTIKIILEYADKIFTYIFILEMLLKWIAYGYKTYFTNAWCWLDFLIVDVSLV
TLVANTLGYSDLGPIKSLRTLRALRPLRALSRFEGMRVVVNALIGAIPSIMNVLLVCLIF
WLIFSIMGVNLFAGKFYECINTTDGSRFPASQVPNRSECFALMNVSQNVRWKNLKVNFDN
VGLGYLSLLQVATFKGWTIIMYAAVDSVNVDKQPKYEYSLYMYIYFVVFIIFGSFFTLNL
FIGVIIDNFNQQKKKLGGQDIFMTEEQKKYYNAMKKLGSKKPQKPIPRPGNKIQGCIFDL
VTNQAFDISIMVLICLNMVTMMVEKEGQSQHMTEVLYWINVVFIILFTGECVLKLISLRH
YYFTVGWNIFDFVVVIISIVGMFLADLIETYFVSPTLFRVIRLARIGRILRLVKGAKGIR
TLLFALMMSLPALFNIGLLLFLVMFIYAIFGMSNFAYVKKEDGINDMFNFETFGNSMICL
FQITTSAGWDGLLAPILNSKPPDCDPKKVHPGSSVEGDCGNPSVGIFYFVSYIIISFLVV
VNMYIAVILENFSVATEESTEPLSEDDFEMFYEVWEKFDPDATQFIEFSKLSDFAAALDP
PLLIAKPNKVQLIAMDLPMVSGDRIHCLDILFAFTKRVLGESGEMDSLRSQMEERFMSAN
PSKVSYEPITTTLKRKQEDVSATVIQRAYRRYRLRQNVKNISSIYIKDGDRDDDLLNKKD
MAFDNVNENSSPEKTDATSSTTSPPSYDSVTKPDKEKYEQDRTEKEDKGKDSKESKK |
| NT seq |
5934 nt  +upstreamnt +downstreamnt
atggcaatgttgcctcccccaggacctcagagctttgtccatttcacaaaacagtctctt
gccctcattgaacaacgcattgctgaaagaaaatcaaaggaacccaaagaagaaaagaaa
gatgatgatgaagaagccccaaagccaagcagtgacttggaagctggcaaacagctgccc
ttcatctatggggacattcctcccggcatggtgtcagagcccctggaggacttggacccc
tactatgcagacaaaaagactttcatagtattgaacaaagggaaaacaatcttccgtttc
aatgccacacctgctttatatatgctttctcctttcagtcctctaagaagaatatctatt
aagattttagtacactccttattcagcatgctcatcatgtgcactattctgacaaactgc
atatttatgaccatgaataacccaccggactggaccaaaaatgtcgagtacacttttact
ggaatatatacttttgaatcacttgtaaaaatccttgcaagaggcttctgtgtaggagaa
ttcacttttcttcgtgacccgtggaactggctggattttgtcgtcattgtttttgcgtat
ttaacagaatttgtaaacctaggcaatgtttcagctcttcgaactttcagagtattgaga
gctttgaaaactatttctgtaatcccaggcctgaagacaattgtaggggctttgatccag
tcagtgaagaagctttctgatgtcatgatcctgactgtgttctgtctgagtgtgtttgca
ctaattggactacagctgttcatgggaaacctgaagcataaatgttttcgaaattcactt
gaaaataatgaaacattagaaagcataatgaataccctagagagtgaagaagactttaga
aaatatttttattacttggaaggatccaaagatgctctcctttgtggtttcagcacagat
tcaggtcagtgtccagaggggtacacctgtgtgaaaattggcagaaaccctgattatggc
tacacgagctttgacactttcagctgggccttcttagccttgtttaggctaatgacccaa
gattactgggaaaacctttaccaacagacgctgcgtgctgctggcaaaacctacatgatc
ttctttgtcgtagtgattttcctgggctccttttatctaataaacttgatcctggctgtg
gttgccatggcatatgaagaacagaaccaggcaaacattgaagaagctaaacagaaagaa
ttagaatttcaacagatgttagaccgtcttaaaaaagagcaagaagaagctgaggcaatt
gcagcggcagcggctgaatatacaagtattaggagaagcagaattatgggcctctcagag
agttcttctgaaacatccaaactgagctctaaaagtgctaaagaaagaagaaacagaaga
aagaaaaagaatcaaaagaagctctccagtggagaggaaaagggagatgctgagaaattg
tcgaaatcagaatcagaggacagcatcagaagaaaaagtttccaccttggtgtcgaaggg
cataggcgagcacatgaaaagaggttgtctacccccaatcagtcaccactcagcattcgt
ggctccttgttttctgcaaggcgaagcagcagaacaagtctttttagtttcaaaggcaga
ggaagagatataggatctgagactgaatttgccgatgatgagcacagcatttttggagac
aatgagagcagaaggggctcactgtttgtgccccacagaccccaggagcgacgcagcagt
aacatcagccaagccagtaggtccccaccaatgctgccggtgaacgggaaaatgcacagt
gctgtggactgcaacggtgtggtctccctggttgatggacgctcagccctcatgctcccc
aatggacagcttctgccagagggcacgaccaatcaaatacacaagaaaaggcgttgtagt
tcctatctcctttcagaggatatgctgaatgatcccaacctcagacagagagcaatgagt
agagcaagcatattaacaaacactgtggaagaacttgaagagtccagacaaaaatgtcca
ccttggtggtacagatttgcacacaaattcttgatctggaattgctctccatattggata
aaattcaaaaagtgtatctattttattgtaatggatccttttgtagatcttgcaattacc
atttgcatagttttaaacacattatttatggctatggaacaccacccaatgactgaggaa
ttcaaaaatgtacttgctataggaaatttggtctttactggaatctttgcagctgaaatg
gtattaaaactgattgccatggatccatatgagtatttccaagtaggctggaatattttt
gacagccttattgtgactttaagtttagtggagctctttctagcagatgtggaaggattg
tcagttctgcgatcattcagactgctccgagtcttcaagttggcaaaatcctggccaaca
ttgaacatgctgattaagatcattggtaactcagtaggggctctaggtaacctcacctta
gtgttggccatcatcgtcttcatttttgctgtggtcggcatgcagctctttggtaagagc
tacaaagaatgtgtctgcaagatcaatgatgactgtacgctcccacggtggcacatgaac
gacttcttccactccttcctgattgtgttccgcgtgctgtgtggagagtggatagagacc
atgtgggactgtatggaggtcgctggtcaagctatgtgccttattgtttacatgatggtc
atggtcattggaaacctggtggtcctaaacctatttctggccttattattgagctcattt
agttcagacaatcttacagcaattgaagaagaccctgatgcaaacaacctccagattgca
gtgactagaattaaaaagggaataaattatgtgaaacaaaccttacgtgaatttattcta
aaagcattttccaaaaagccaaagatttccagggagataagacaagcagaagatctgaat
actaagaaggaaaactatatttctaaccatacacttgctgaaatgagcaaaggtcacaat
ttcctcaaggaaaaagataaaatcagtggttttggaagcagcgtggacaaacacttgatg
gaagacagtgatggtcaatcatttattcacaatcccagcctcacagtgacagtgccaatt
gcacctggggaatccgatttggaaaatatgaatgctgaggaacttagcagtgattcggat
agtgaatacagcaaagtgagattaaaccggtcaagctcctcagagtgcagcacagttgat
aaccctttgcctggagaaggagaagaagcagaggctgaacctatgaattccgatgagcca
gaggcctgtttcacagatggttgtgtacggaggttctcatgctgccaagttaacatagag
tcagggaaaggaaaaatctggtggaacatcaggaaaacctgctacaagattgttgaacac
agttggtttgaaagcttcattgtcctcatgatcctgctcagcagtggtgccctggctttt
gaagatatttatattgaaaggaaaaagaccattaagattatcctggagtatgcagacaag
atcttcacttacatcttcattctggaaatgcttctaaaatggatagcatatggttataaa
acatatttcaccaatgcctggtgttggctggatttcctaattgttgatgtttctttggtt
actttagtggcaaacactcttggctactcagatcttggccccattaaatcccttcggaca
ctgagagctttaagacctctaagagccttatctagatttgaaggaatgagggtcgttgtg
aatgcactcataggagcaattccttccatcatgaatgtgctacttgtgtgtcttatattc
tggctgatattcagcatcatgggagtaaatttgtttgctggcaagttctatgagtgtatt
aacaccacagatgggtcacggtttcctgcaagtcaagttccaaatcgttccgaatgtttt
gcccttatgaatgttagtcaaaatgtgcgatggaaaaacctgaaagtgaactttgataat
gtcggacttggttacctatctctgcttcaagttgcaacttttaagggatggacgattatt
atgtatgcagcagtggattctgttaatgtagacaagcagcccaaatatgaatatagcctc
tacatgtatatttattttgtcgtctttatcatctttgggtcattcttcactttgaacttg
ttcattggtgtcatcatagataatttcaaccaacagaaaaagaagcttggaggtcaagac
atctttatgacagaagaacagaagaaatactataatgcaatgaaaaagctggggtccaag
aagccacaaaagccaattcctcgaccagggaacaaaatccaaggatgtatatttgaccta
gtgacaaatcaagcctttgatattagtatcatggttcttatctgtctcaacatggtaacc
atgatggtagaaaaggagggtcaaagtcaacatatgactgaagttttatattggataaat
gtggtttttataatccttttcactggagaatgtgtgctaaaactgatctccctcagacac
tactacttcactgtaggatggaatatttttgattttgtggttgtgattatctccattgta
ggtatgtttctagctgatttgattgaaacgtattttgtgtcccctaccctgttccgagtg
atccgtcttgccaggattggccgaatcctacgtctagtcaaaggagcaaaggggatccgc
acgctgctctttgctttgatgatgtcccttcctgcgttgtttaacatcggcctcctgctc
ttcctggtcatgttcatctacgccatctttggaatgtccaactttgcctatgttaaaaag
gaagatggaattaatgacatgttcaattttgagacctttggcaacagtatgatttgcctg
ttccaaattacaacctctgctggctgggatggattgctagcacctattcttaacagtaag
ccacccgactgtgacccaaaaaaagttcatcctggaagttcagttgaaggagactgtggt
aacccatctgttggaatattctactttgttagttatatcatcatatccttcctggttgtg
gtgaacatgtacattgcagtcatactggagaattttagtgttgccactgaagaaagtact
gaacctctgagtgaggatgactttgagatgttctatgaggtttgggagaagtttgatccc
gatgcgacccagtttatagagttctctaaactctctgattttgcagctgccctggatcct
cctcttctcatagcaaaacccaacaaagtccagctcattgccatggatctgcccatggtt
agtggtgaccggatccattgtcttgacatcttatttgcttttacaaagcgtgttttgggt
gagagtggggagatggattctcttcgttcacagatggaagaaaggttcatgtctgcaaat
ccttccaaagtgtcctatgaacccatcacaaccacactaaaacggaaacaagaggatgtg
tctgctactgtcattcagcgtgcttatagacgttaccgcttaaggcaaaatgtcaaaaat
atatcaagtatatacataaaagatggagacagagatgatgatttactcaataaaaaagat
atggcttttgataatgttaatgagaactcaagtccagaaaaaacagatgccacttcatcc
accacctctccaccttcatatgatagtgtaacaaagccagacaaagagaaatatgaacaa
gacagaacagaaaaggaagacaaagggaaagacagcaaggaaagcaaaaaatag |