KEGG   Homo sapiens (human): 23114
Entry
23114             CDS       T01001                                 
Symbol
NFASC, NEDCPMD, NF, NRCAML
Name
(RefSeq) neurofascin
  KO
K06757  neurofascin
Organism
hsa  Homo sapiens (human)
Pathway
hsa04514  Cell adhesion molecule (CAM) interaction
hsa04517  IgSF CAM signaling
Network
nt06541  Cytoskeleton in neurons
nt06546  IgSF CAM signaling
  Element
N01848  Membrane-associated periodic skeleton (MPS)
N01933  NrCAM interactions
N01935  NFASC interactions
N01936  CNTN1 interactions
Disease
H02990  Neurodevelopmental disorder with central and peripheral motor dysfunction
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09133 Signaling molecules and interaction
   04514 Cell adhesion molecule (CAM) interaction
    23114 (NFASC)
   04517 IgSF CAM signaling
    23114 (NFASC)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04515 Cell adhesion molecules [BR:hsa04515]
    23114 (NFASC)
Cell adhesion molecules [BR:hsa04515]
 Immunoglobulin superfamily
  L1 family
   23114 (NFASC)
SSDB
Motif
Pfam: Ig_3 I-set Ig_2 fn3 ig Bravo_FIGEY V-set FN3_DSCAM-DSCAML_C Ig_5 C2-set_2 V-set_CD47 Ig_PDGFR_d4 Ig_VEGFR-1-like_5th BiPBP_C
Other DBs
NCBI-GeneID: 23114
NCBI-ProteinID: NP_001365258
OMIM: 609145
HGNC: 29866
Ensembl: ENSG00000163531
UniProt: O94856
Structure
LinkDB
Position
1:204828652..205022822
AA seq 1347 aa
MARQPPPPWVHAAFLLCLLSLGGAIEIPMDPSIQNELTQPPTITKQSAKDHIVDPRDNIL
IECEAKGNPAPSFHWTRNSRFFNIAKDPRVSMRRRSGTLVIDFRSGGRPEEYEGEYQCFA
RNKFGTALSNRIRLQVSKSPLWPKENLDPVVVQEGAPLTLQCNPPPGLPSPVIFWMSSSM
EPITQDKRVSQGHNGDLYFSNVMLQDMQTDYSCNARFHFTHTIQQKNPFTLKVLTTRGVA
ERTPSFMYPQGTASSQMVLRGMDLLLECIASGVPTPDIAWYKKGGDLPSDKAKFENFNKA
LRITNVSEEDSGEYFCLASNKMGSIRHTISVRVKAAPYWLDEPKNLILAPGEDGRLVCRA
NGNPKPTVQWMVNGEPLQSAPPNPNREVAGDTIIFRDTQISSRAVYQCNTSNEHGYLLAN
AFVSVLDVPPRMLSPRNQLIRVILYNRTRLDCPFFGSPIPTLRWFKNGQGSNLDGGNYHV
YENGSLEIKMIRKEDQGIYTCVATNILGKAENQVRLEVKDPTRIYRMPEDQVARRGTTVQ
LECRVKHDPSLKLTVSWLKDDEPLYIGNRMKKEDDSLTIFGVAERDQGSYTCVASTELDQ
DLAKAYLTVLADQATPTNRLAALPKGRPDRPRDLELTDLAERSVRLTWIPGDANNSPITD
YVVQFEEDQFQPGVWHDHSKYPGSVNSAVLRLSPYVNYQFRVIAINEVGSSHPSLPSERY
RTSGAPPESNPGDVKGEGTRKNNMEITWTPMNATSAFGPNLRYIVKWRRRETREAWNNVT
VWGSRYVVGQTPVYVPYEIRVQAENDFGKGPEPESVIGYSGEDYPRAAPTEVKVRVMNST
AISLQWNRVYSDTVQGQLREYRAYYWRESSLLKNLWVSQKRQQASFPGDRLRGVVSRLFP
YSNYKLEMVVVNGRGDGPRSETKEFTTPEGVPSAPRRFRVRQPNLETINLEWDHPEHPNG
IMIGYTLKYVAFNGTKVGKQIVENFSPNQTKFTVQRTDPVSRYRFTLSARTQVGSGEAVT
EESPAPPNEATPTAAPPTLPPTTVGATGAVSSTDATAIAATTEATTVPIIPTVAPTTIAT
TTTVATTTTTTAAATTTTESPPTTTSGTKIHESAPDEQSIWNVTVLPNSKWANITWKHNF
GPGTDFVVEYIDSNHTKKTVPVKAQAQPIQLTDLYPGMTYTLRVYSRDNEGISSTVITFM
TSTAYTNNQADIATQGWFIGLMCAIALLVLILLIVCFIKRSRGGKYPVREKKDVPLGPED
PKEEDGSFDYSDEDNKPLQGSQTSLDGTIKQQESDDSLVDYGEGGEGQFNEDGSFIGQYT
VKKDKEETEGNESSEATSPVNAIYSLA
NT seq 4044 nt   +upstreamnt  +downstreamnt
atggccaggcagccaccgccgccctgggtccatgcagccttcctcctctgcctcctcagt
cttggcggagccatcgaaattcctatggatccaagcattcagaatgagctgacgcagccg
ccaaccatcaccaagcagtcagcgaaggatcacatcgtggacccccgtgataacatcctg
attgagtgtgaagcaaaagggaaccctgcccccagcttccactggacacgaaacagcaga
ttcttcaacatcgccaaggacccccgggtgtccatgaggaggaggtctgggaccctggtg
attgacttccgcagtggcgggcggccggaggaatatgagggggaatatcagtgcttcgcc
cgcaacaaatttggcacggccctgtccaataggatccgcctgcaggtgtctaaatctcct
ctgtggcccaaggaaaacctagaccctgtcgtggtccaagagggcgctcctttgacgctc
cagtgcaaccccccgcctggacttccatccccggtcatcttctggatgagcagctccatg
gagcccatcacccaagacaaacgtgtctctcagggccataacggagacctatacttctcc
aacgtgatgctgcaggacatgcagaccgactacagttgtaacgcccgcttccacttcacc
cacaccatccagcagaagaaccctttcaccctcaaggtcctcaccacccgaggagttgca
gaaagaacaccaagcttcatgtatccccagggcaccgcgagcagccagatggtgcttcgt
ggcatggacctcctgctggaatgcatcgcctccggggtcccaacaccagacatcgcatgg
tacaagaaaggtggggacctcccatctgataaggccaagtttgagaactttaataaggcc
ctgcgtatcacaaatgtctctgaggaagactccggggagtatttctgcctggcctccaac
aagatgggcagcatccggcacacgatctcggtgagagtaaaggctgctccctactggctg
gacgaacccaagaaccttattctggctcctggcgaggatgggagactggtgtgtcgagcc
aatggaaaccccaaacccactgtccagtggatggtgaatggggaacctttgcaatcggca
ccacctaacccaaaccgtgaggtggccggagacaccatcatcttccgggacacccagatc
agcagcagggctgtgtaccagtgcaacacctccaacgagcatggctacctgctggccaac
gcctttgtcagtgtgctggatgtgccgcctcggatgctgtcgccccggaaccagctcatt
cgagtgattctttacaaccggacgcggctggactgccctttctttgggtctcccatcccc
acactgcgatggtttaagaatgggcaaggaagcaacctggatggtggcaactaccatgtt
tatgagaacggcagtctggaaattaagatgatccgcaaagaggaccagggcatctacacc
tgtgtcgccaccaacatcctgggcaaagctgaaaaccaagtccgcctggaggtcaaagac
cccaccaggatctaccggatgcccgaggaccaggtggccagaaggggcaccacggtgcag
ctggagtgtcgggtgaagcacgacccctccctgaaactcaccgtctcctggctgaaggat
gacgagccgctctatattggaaacaggatgaagaaggaagacgactccctgaccatcttt
ggggtggcagagcgggaccagggcagttacacgtgtgtcgccagcaccgagctagaccaa
gacctggccaaggcctacctcaccgtgctagctgatcaggccactccaactaaccgtttg
gctgccctgcccaaaggacggccagaccggccccgggacctggagctgaccgacctggcc
gagaggagcgtgcggctgacctggatccccggggatgctaacaacagccccatcacagac
tacgtcgtccagtttgaagaagaccagttccaacctggggtctggcatgaccattccaag
taccccggcagcgttaactcagccgtcctccggctgtccccgtatgtcaactaccagttc
cgtgtcattgccatcaacgaggttgggagcagccaccccagcctcccatccgagcgctac
cgaaccagtggagcaccccccgagtccaatcctggtgacgtgaagggagaggggaccaga
aagaacaacatggagatcacgtggacgcccatgaatgccacctcggcctttggccccaac
ctgcgctacattgtcaagtggaggcggagagagactcgagaggcctggaacaacgtcaca
gtgtggggctctcgctacgtggtggggcagaccccagtctacgtgccctatgagatccga
gtccaggctgaaaatgacttcgggaagggccctgagccagagtccgtcatcggttactcc
ggagaagattatcccagggctgcgcccactgaagttaaagtccgagtcatgaacagcaca
gccatcagccttcagtggaaccgcgtctactccgacacggtccagggccagctcagagag
taccgagcctactactggagggagagcagcttgctgaagaacctgtgggtgtctcagaag
agacagcaagccagcttccctggtgaccgcctccgtggcgtggtgtcccgcctcttcccc
tacagtaactacaagctggagatggttgtggtcaatgggagaggtgatgggcctcgcagt
gagaccaaggagttcaccaccccggaaggagtacccagtgcccctaggcgtttccgagtc
cggcagcccaacctggagacaatcaacctggaatgggatcatcctgagcatccaaatggg
atcatgattggatacactctcaaatatgtggcctttaacgggaccaaagtaggaaagcag
atagtggaaaacttctctcccaatcagaccaagttcacggtgcaaagaacggaccccgtg
tcacgctaccgctttaccctcagcgccaggacgcaggtgggctctggggaagccgtcaca
gaggagtcaccagcacccccgaatgaagctactccaaccgcagctcctcccacattgccc
ccgactaccgtgggtgcgacgggcgctgtgagcagtaccgatgctactgccattgctgcc
accaccgaagccacaacagtccccatcatcccaactgtcgcacctaccaccatcgccacc
accaccaccgtcgccacaactactacaaccactgctgccgccaccaccaccacggagagt
cctcccaccaccacctccgggactaagatacacgaatccgcccctgatgagcagtccata
tggaacgtcacggtgctccccaacagtaaatgggccaacatcacctggaagcacaatttc
gggcccggaactgactttgtggttgagtacatcgacagcaaccatacgaaaaaaactgtc
ccagttaaggcccaggctcagcctatacagctgacagacctctatcccgggatgacatac
acgttgcgggtttattcccgggacaacgagggcatcagcagtaccgtcatcacctttatg
accagtacagcttacaccaacaaccaagcggacatcgccacccagggctggttcattggg
cttatgtgcgccatcgccctcctggtgctgatcctgctcatcgtctgtttcatcaagagg
agtcgcggcggcaagtacccagtacgagaaaagaaggatgttccccttggccctgaagac
cccaaggaagaggatggctcatttgactatagtgatgaggacaacaagcccctgcagggc
agtcagacatctctggacggcaccatcaagcagcaggagagtgacgacagcctggtggac
tatggcgagggtggcgagggtcagttcaatgaagacggctccttcatcggccagtacacg
gtcaaaaaggacaaggaggaaacagagggcaacgaaagctcagaggccacgtcacctgtc
aatgctatctactctctggcctaa

KEGG   Homo sapiens (human): 6334
Entry
6334              CDS       T01001                                 
Symbol
SCN8A, BFIS5, CERIII, CIAT, DEE13, EIEE13, MED, MYOCL2, NaCh6, Nav1.6, PN4
Name
(RefSeq) sodium voltage-gated channel alpha subunit 8
  KO
K04840  voltage-gated sodium channel type VIII alpha
Organism
hsa  Homo sapiens (human)
Pathway
hsa04517  IgSF CAM signaling
Network
nt06541  Cytoskeleton in neurons
nt06546  IgSF CAM signaling
  Element
N01848  Membrane-associated periodic skeleton (MPS)
N01935  NFASC interactions
Disease
H00606  Early infantile epileptic encephalopathy
H02362  Benign familial infantile seizure
H02789  Familial myoclonus
H02980  Cognitive impairment with or without cerebellar ataxia
Drug target
Actisomide: D02762
Ajmaline: D00199
Aminobenzoic acid (DG00379): D02456 D02906 D02907
Amiodarone (DG00204): D00636<JP/US> D02910
Aprindine (DG00199): D01326<JP> D02969
Articaine (DG00805): D02991 D07468
Benzocaine: D00552<JP>
Bliretrigine: D12616
Bupivacaine (DG00801): D01450<JP/US> D07552<US>
Carbamazepine: D00252<JP/US>
Cenobamate: D11150<US>
Chloroprocaine (DG00800): D00732<US> D07678
Cibenzoline (DG00209): D01455<JP> D03492
Cinchocaine (DG00297): D00733 D02220
Cocaine (DG00808): D00110 D02182<US>
Disopyramide (DG00194): D00303<JP> D00637<JP/US>
Eleclazine: D11155
Encainide (DG00203): D03991 D07894
Eslicarbazepine (DG00848): D09215 D09612<US>
Ethyl piperidinoacetylaminobenzoate: D01519
Etidocaine (DG00804): D00737 D04095
Flecainide (DG00201): D00638<JP/US> D07962
Fosphenytoin (DG00847): D02096<US> D07595<JP> D07993
Indecainide hydrochloride: D04521
Lamotrigine: D00354<JP/US>
Levobupivacaine (DG00807): D01287<JP> D08116
Levosemotiadil fumarate: D09833
Lidocaine (DG00196): D00358<JP/US> D02086<JP/US> D08127<JP/US>
Lorajmine: D04774
Mephenytoin: D00375
Mepivacaine (DG00802): D00738<JP/US> D08181
Mexiletine (DG00197): D00639<JP/US> D08215
Oxcarbazepine: D00533<US>
Oxetacaine (DG00299): D01152<JP> D08311
Oxybuprocaine (DG00392): D01768<JP> D08319
Phenytoin (DG00846): D00512<JP/US> D02103<JP/US>
Pilsicainide (DG01257): D01554<JP> D08377
Pirmenol (DG01381): D01785<JP> D06517 D08394
Pramocaine (DG00300): D00739 D08407
Prilocaine (DG00803): D00553 D01243<US>
Procainamide (DG00193): D00477<JP/US> D08421
Procaine (DG00298): D00740<JP> D08422
Propafenone (DG00200): D00640<JP/US> D08435
Proxymetacaine (DG01145): D02098<US> D08448
Quinidine (DG00192): D00642<US> D00643 D02272<JP/US> D08458 D08459
Recainam (DG01421): D05708 D05709
Ropivacaine (DG00806): D04048<JP/US> D08490
Rufinamide: D05775<JP/US>
Sparteine (DG00195): D01041 D02239
Tetracaine (DG00296): D00551 D00741<US>
Tocainide (DG00198): D02088 D06172
Topiramate: D00537<JP/US>
Transcainide: D06203
Zandatrigine: D12896
Zonisamide: D00538<JP/US>
p-Butylaminobenzoyldiethylaminoethyl hydrochloride: D01967
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09133 Signaling molecules and interaction
   04517 IgSF CAM signaling
    6334 (SCN8A)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    6334 (SCN8A)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Sodium channel, voltage-gated (Nav)
   6334 (SCN8A)
SSDB
Motif
Pfam: Ion_trans Na_trans_assoc Na_trans_cytopl IQ_SCN5A_C PKD_channel IQ GPHH Lustrin_cystein HB_ELP1 Mucin_bdg
Other DBs
NCBI-GeneID: 6334
NCBI-ProteinID: NP_001317189
OMIM: 600702
HGNC: 10596
Ensembl: ENSG00000196876
UniProt: Q9UQD0 Q6B4S4
Structure
LinkDB
Position
12:51591233..51812864
AA seq 1980 aa
MAARLLAPPGPDSFKPFTPESLANIERRIAESKLKKPPKADGSHREDDEDSKPKPNSDLE
AGKSLPFIYGDIPQGLVAVPLEDFDPYYLTQKTFVVLNRGKTLFRFSATPALYILSPFNL
IRRIAIKILIHSVFSMIIMCTILTNCVFMTFSNPPDWSKNVEYTFTGIYTFESLVKIIAR
GFCIDGFTFLRDPWNWLDFSVIMMAYVTEFVDLGNVSALRTFRVLRALKTISVIPGLKTI
VGALIQSVKKLSDVMILTVFCLSVFALIGLQLFMGNLRNKCVVWPINFNESYLENGTKGF
DWEEYINNKTNFYTVPGMLEPLLCGNSSDAGQCPEGYQCMKAGRNPNYGYTSFDTFSWAF
LALFRLMTQDYWENLYQLTLRAAGKTYMIFFVLVIFVGSFYLVNLILAVVAMAYEEQNQA
TLEEAEQKEAEFKAMLEQLKKQQEEAQAAAMATSAGTVSEDAIEEEGEEGGGSPRSSSEI
SKLSSKSAKERRNRRKKRKQKELSEGEEKGDPEKVFKSESEDGMRRKAFRLPDNRIGRKF
SIMNQSLLSIPGSPFLSRHNSKSSIFSFRGPGRFRDPGSENEFADDEHSTVEESEGRRDS
LFIPIRARERRSSYSGYSGYSQGSRSSRIFPSLRRSVKRNSTVDCNGVVSLIGGPGSHIG
GRLLPEATTEVEIKKKGPGSLLVSMDQLASYGRKDRINSIMSVVTNTLVEELEESQRKCP
PCWYKFANTFLIWECHPYWIKLKEIVNLIVMDPFVDLAITICIVLNTLFMAMEHHPMTPQ
FEHVLAVGNLVFTGIFTAEMFLKLIAMDPYYYFQEGWNIFDGFIVSLSLMELSLADVEGL
SVLRSFRLLRVFKLAKSWPTLNMLIKIIGNSVGALGNLTLVLAIIVFIFAVVGMQLFGKS
YKECVCKINQDCELPRWHMHDFFHSFLIVFRVLCGEWIETMWDCMEVAGQAMCLIVFMMV
MVIGNLVVLNLFLALLLSSFSADNLAATDDDGEMNNLQISVIRIKKGVAWTKLKVHAFMQ
AHFKQREADEVKPLDELYEKKANCIANHTGADIHRNGDFQKNGNGTTSGIGSSVEKYIID
EDHMSFINNPNLTVRVPIAVGESDFENLNTEDVSSESDPEGSKDKLDDTSSSEGSTIDIK
PEVEEVPVEQPEEYLDPDACFTEGCVQRFKCCQVNIEEGLGKSWWILRKTCFLIVEHNWF
ETFIIFMILLSSGALAFEDIYIEQRKTIRTILEYADKVFTYIFILEMLLKWTAYGFVKFF
TNAWCWLDFLIVAVSLVSLIANALGYSELGAIKSLRTLRALRPLRALSRFEGMRVVVNAL
VGAIPSIMNVLLVCLIFWLIFSIMGVNLFAGKYHYCFNETSEIRFEIEDVNNKTECEKLM
EGNNTEIRWKNVKINFDNVGAGYLALLQVATFKGWMDIMYAAVDSRKPDEQPKYEDNIYM
YIYFVIFIIFGSFFTLNLFIGVIIDNFNQQKKKFGGQDIFMTEEQKKYYNAMKKLGSKKP
QKPIPRPLNKIQGIVFDFVTQQAFDIVIMMLICLNMVTMMVETDTQSKQMENILYWINLV
FVIFFTCECVLKMFALRHYYFTIGWNIFDFVVVILSIVGMFLADIIEKYFVSPTLFRVIR
LARIGRILRLIKGAKGIRTLLFALMMSLPALFNIGLLLFLVMFIFSIFGMSNFAYVKHEA
GIDDMFNFETFGNSMICLFQITTSAGWDGLLLPILNRPPDCSLDKEHPGSGFKGDCGNPS
VGIFFFVSYIIISFLIVVNMYIAIILENFSVATEESADPLSEDDFETFYEIWEKFDPDAT
QFIEYCKLADFADALEHPLRVPKPNTIELIAMDLPMVSGDRIHCLDILFAFTKRVLGDSG
ELDILRQQMEERFVASNPSKVSYEPITTTLRRKQEEVSAVVLQRAYRGHLARRGFICKKT
TSNKLENGGTHREKKESTPSTASLPSYDSVTKPEKEKQQRAEEGRRERAKRQKEVRESKC
NT seq 5943 nt   +upstreamnt  +downstreamnt
atggcagcgcggctgcttgcaccaccaggccctgatagtttcaagcctttcacccctgag
tcactggcaaacattgagaggcgcattgctgagagcaagctcaagaaaccaccaaaggcc
gatggcagtcatcgggaggacgatgaggacagcaagcccaagccaaacagcgacctggaa
gcagggaagagtttgcctttcatctacggggacatcccccaaggcctggttgcagttccc
ctggaggactttgacccatactatttgacgcagaaaacctttgtagtattaaacagaggg
aaaactctcttcagatttagtgccacgcctgccttgtacattttaagtccttttaacctg
ataagaagaatagctattaaaattttgatacattcagtatttagcatgatcattatgtgc
actattttgaccaactgtgtattcatgacttttagtaaccctcctgactggtcgaagaat
gtggagtacacgttcacagggatttatacatttgaatcactagtgaaaatcattgcaaga
ggtttctgcatagatggctttacctttttacgggacccatggaactggttagatttcagt
gtcatcatgatggcatatgtgacagagtttgtggacctgggcaatgtctcagcgctgaga
acattcagggttctccgagctttgaaaactatctctgtaattccaggcctgaagacaatt
gtgggtgccctgattcagtctgtgaagaaactgtcagatgtgatgatcctgacagtgttc
tgcctgagtgtttttgccttgatcggactgcagctgttcatggggaaccttcgaaacaag
tgtgttgtgtggcccataaacttcaacgagagctatcttgaaaatggcaccaaaggcttt
gattgggaagagtatatcaacaataaaacaaatttctacacagttcctggcatgctggaa
cctttactctgtgggaacagttctgatgctgggcaatgcccagagggataccagtgtatg
aaagcaggaaggaaccccaactatggttacacaagttttgacacttttagctgggccttc
ttggcattatttcgccttatgacccaggactattgggaaaacttgtatcaattgacttta
cgagcagccgggaaaacatacatgatcttcttcgtcttggtcatctttgtgggttctttc
tatctggtgaacttgatcttggctgtggtggccatggcttatgaagaacagaatcaggca
acactggaggaggcagaacaaaaagaggctgaatttaaagcaatgttggagcaacttaag
aagcaacaggaagaggcacaggctgctgcgatggccacttcagcaggaactgtctcagaa
gatgccatagaggaagaaggtgaagaaggagggggctcccctcggagctcttctgaaatc
tctaaactcagctcaaagagtgcaaaggaaagacgtaacaggagaaagaagaggaagcaa
aaggaactctctgaaggagaggagaaaggggatcccgagaaggtgtttaagtcagagtca
gaagatggcatgagaaggaaggcctttcggctgccagacaacagaatagggaggaaattt
tccatcatgaatcagtcactgctcagcatcccaggctcgcccttcctctcccgccacaac
agcaagagcagcatcttcagtttcaggggacctgggcggttccgagacccgggctccgag
aatgagttcgcggatgacgagcacagcacggtggaggagagcgagggccgccgggactcc
ctcttcatccccatccgggcccgcgagcgccggagcagctacagcggctacagcggctac
agccagggcagccgctcctcgcgcatcttccccagcctgcggcgcagcgtgaagcgcaac
agcacggtggactgcaacggcgtggtgtccctcatcggcggccccggctcccacatcggc
gggcgtctcctgccagaggctacaactgaggtggaaattaagaagaaaggccctggatct
cttttagtttccatggaccaattagcctcctacgggcggaaggacagaatcaacagtata
atgagtgttgttacaaatacactagtagaagaactggaagagtctcagagaaagtgcccg
ccatgctggtataaatttgccaacactttcctcatctgggagtgccacccctactggata
aaactgaaagagattgtgaacttgatagttatggacccttttgtggatttagccatcacc
atctgcatcgtcctgaatacactgtttatggcaatggagcaccatcctatgacaccacaa
tttgaacatgtcttggctgtaggaaatctggttttcactggaattttcacagcggaaatg
ttcctgaagctcatagccatggatccctactattatttccaagaaggttggaacattttt
gacggatttattgtctccctcagtttaatggaactgagtctagcagacgtggaggggctt
tcagtgctgcgatctttccgattgctccgagtcttcaaattggccaaatcctggcccacc
ctgaacatgctaatcaagattattggaaattcagtgggtgccctgggcaacctgacactg
gtgctggccattattgtcttcatctttgccgtggtggggatgcaactctttggaaaaagc
tacaaagagtgtgtctgcaagatcaaccaggactgtgaactccctcgctggcatatgcat
gactttttccattccttcctcattgtctttcgagtgttgtgcggggagtggattgagacc
atgtgggactgcatggaagtggcaggccaggccatgtgcctcattgtctttatgatggtc
atggtgattggcaacttggtggtgctgaacctgtttctggccttgctcctgagctccttc
agtgcagacaacctggctgccacagatgacgatggggaaatgaacaacctccagatctca
gtgatccgtatcaagaagggtgtggcctggaccaaactaaaggtgcacgccttcatgcag
gcccactttaagcagcgtgaggctgatgaggtgaagcctctggatgagttgtatgaaaag
aaggccaactgtatcgccaatcacaccggtgcagacatccaccggaatggtgacttccag
aagaatggcaatggcacaaccagcggcattggcagcagcgtggagaagtacatcattgat
gaggaccacatgtccttcatcaacaaccccaacttgactgtacgggtacccattgctgtg
ggcgagtctgactttgagaacctcaacacagaggatgttagcagcgagtcggatcctgaa
ggcagcaaagataaactagatgacaccagctcctctgaaggaagcaccattgatatcaaa
ccagaagtagaagaggtccctgtggaacagcctgaggaatacttggatccagatgcctgc
ttcacagaaggttgtgtccagcggttcaagtgctgccaggtcaacatcgaggaagggcta
ggcaagtcttggtggatcctgcggaaaacctgcttcctcatcgtggagcacaactggttt
gagaccttcatcatcttcatgattctgctgagcagtggcgccctggccttcgaggacatc
tacattgagcagagaaagaccatccgcaccatcctggaatatgctgacaaagtcttcacc
tatatcttcatcctggagatgttgctcaagtggacagcctatggcttcgtcaagttcttc
accaatgcctggtgttggctggacttcctcattgtggctgtctctttagtcagccttata
gctaatgccctgggctactcggaactaggtgccataaagtcccttaggaccctaagagct
ttgagacccttaagagccttatcacgatttgaagggatgagggtggtggtgaatgccttg
gtgggcgccatcccctccatcatgaatgtgctgctggtgtgtctcatcttctggctgatt
ttcagcatcatgggagttaacttgtttgcgggaaagtaccactactgctttaatgagact
tctgaaatccgatttgaaattgaagatgtcaacaataaaactgaatgtgaaaagcttatg
gaggggaacaatacagagatcagatggaagaacgtgaagatcaactttgacaatgttggg
gcaggatacctggcccttcttcaagtagcaaccttcaaaggctggatggacatcatgtat
gcagctgtagattcccggaagcctgatgagcagcctaagtatgaggacaatatctacatg
tacatctattttgtcatcttcatcatcttcggctccttcttcaccctgaacctgttcatt
ggtgtcatcattgataacttcaatcaacaaaagaaaaagttcggaggtcaggacatcttc
atgaccgaagaacagaagaagtactacaatgccatgaaaaagctgggctcaaagaagcca
cagaaacctattccccgccccttgaacaaaatccaaggaatcgtctttgattttgtcact
cagcaagcctttgacattgttatcatgatgctcatctgccttaacatggtgacaatgatg
gtggagacagacactcaaagcaagcagatggagaacatcctctactggattaacctggtg
tttgttatcttcttcacctgtgagtgtgtgctcaaaatgtttgcgttgaggcactactac
ttcaccattggctggaacatcttcgacttcgtggtagtcatcctctccattgtgggaatg
ttcctggcagatataattgagaaatactttgtttccccaaccctattccgagtcatccga
ttggcccgtattgggcgcatcttgcgtctgatcaaaggcgccaaagggattcgtaccctg
ctctttgccttaatgatgtccttgcctgccctgttcaacatcggccttctgctcttcctg
gtcatgttcatcttctccatttttgggatgtccaattttgcatatgtgaagcacgaggct
ggtatcgatgacatgttcaactttgagacatttggcaacagcatgatctgcctgtttcaa
atcacaacctcagctggttgggatggcctgctgctgcccatcctaaaccgcccccctgac
tgcagcctagataaggaacacccagggagtggctttaagggagattgtgggaacccctca
gtgggcatcttcttctttgtaagctacatcatcatctctttcctaattgtcgtgaacatg
tacattgccatcatcctggagaacttcagtgtagccacagaggaaagtgcagaccctctg
agtgaggatgactttgagaccttctatgagatctgggagaagttcgaccccgatgccacc
cagttcattgagtactgtaagctggcagactttgcagatgccttggagcatcctctccga
gtgcccaagcccaataccattgagctcatcgctatggatctgccaatggtgagcggggat
cgcatccactgcttggacatcctttttgccttcaccaagcgggtcctgggagatagcggg
gagttggacatcctgcggcagcagatggaagagcggttcgtggcatccaatccttccaaa
gtgtcttacgagccaatcacaaccacactgcgtcgcaagcaggaggaggtatctgcagtg
gtcctgcagcgtgcctaccggggacatttggcaaggcggggcttcatctgcaaaaagaca
acttctaataagctggagaatggaggcacacaccgggagaaaaaagagagcaccccatct
acagcctccctcccgtcctatgacagtgtaactaaacctgaaaaggagaaacagcagcgg
gcagaggaaggaagaagggaaagagccaaaagacaaaaagaggtcagagaatccaagtgt
tag

KEGG   Homo sapiens (human): 3785
Entry
3785              CDS       T01001                                 
Symbol
KCNQ2, BFNC, DEE7, EBN, EBN1, ENB1, HNSPC, KCNA11, KV7.2
Name
(RefSeq) potassium voltage-gated channel subfamily Q member 2
  KO
K04927  potassium voltage-gated channel KQT-like subfamily member 2
Organism
hsa  Homo sapiens (human)
Pathway
hsa04517  IgSF CAM signaling
hsa04725  Cholinergic synapse
Network
nt06541  Cytoskeleton in neurons
nt06546  IgSF CAM signaling
  Element
N01848  Membrane-associated periodic skeleton (MPS)
N01933  NrCAM interactions
Disease
H00606  Early infantile epileptic encephalopathy
H00806  Benign familial neonatal seizure
Drug target
Azetukalner: D12890
Flindokalner: D04192
Opakalim: D13061
Retigabine: D09569
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09133 Signaling molecules and interaction
   04517 IgSF CAM signaling
    3785 (KCNQ2)
 09150 Organismal Systems
  09156 Nervous system
   04725 Cholinergic synapse
    3785 (KCNQ2)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    3785 (KCNQ2)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Potassium channel, voltage-gated (Kv)
   3785 (KCNQ2)
SSDB
Motif
Pfam: KCNQ_channel KCNQC3-Ank-G_bd KCNQ2_u3 Ion_trans Ion_trans_2 DUF6526
Other DBs
NCBI-GeneID: 3785
NCBI-ProteinID: NP_742105
OMIM: 602235
HGNC: 6296
Ensembl: ENSG00000075043
UniProt: O43526
Structure
LinkDB
Position
20:complement(63400208..63472655)
AA seq 872 aa
MVQKSRNGGVYPGPSGEKKLKVGFVGLDPGAPDSTRDGALLIAGSEAPKRGSILSKPRAG
GAGAGKPPKRNAFYRKLQNFLYNVLERPRGWAFIYHAYVFLLVFSCLVLSVFSTIKEYEK
SSEGALYILEIVTIVVFGVEYFVRIWAAGCCCRYRGWRGRLKFARKPFCVIDIMVLIASI
AVLAAGSQGNVFATSALRSLRFLQILRMIRMDRRGGTWKLLGSVVYAHSKELVTAWYIGF
LCLILASFLVYLAEKGENDHFDTYADALWWGLITLTTIGYGDKYPQTWNGRLLAATFTLI
GVSFFALPAGILGSGFALKVQEQHRQKHFEKRRNPAAGLIQSAWRFYATNLSRTDLHSTW
QYYERTVTVPMYSSQTQTYGASRLIPPLNQLELLRNLKSKSGLAFRKDPPPEPSPSKGSP
CRGPLCGCCPGRSSQKVSLKDRVFSSPRGVAAKGKGSPQAQTVRRSPSADQSLEDSPSKV
PKSWSFGDRSRARQAFRIKGAASRQNSEEASLPGEDIVDDKSCPCEFVTEDLTPGLKVSI
RAVCVMRFLVSKRKFKESLRPYDVMDVIEQYSAGHLDMLSRIKSLQSRVDQIVGRGPAIT
DKDRTKGPAEAELPEDPSMMGRLGKVEKQVLSMEKKLDFLVNIYMQRMGIPPTETEAYFG
AKEPEPAPPYHSPEDSREHVDRHGCIVKIVRSSSSTGQKNFSAPPAAPPVQCPPSTSWQP
QSHPRQGHGTSPVGDHGSLVRIPPPPAHERSLSAYGGGNRASMEFLRQEDTPGCRPPEGN
LRDSDTSISIPSVDHEELERSFSGFSISQSKENLDALNSCYAAVAPCAKVRPYIAEGESD
TDSDLCTPCGPPPRSATGEGPFGDVGWAGPRK
NT seq 2619 nt   +upstreamnt  +downstreamnt
atggtgcagaagtcgcgcaacggcggcgtataccccggcccgagcggggagaagaagctg
aaggtgggcttcgtggggctggaccccggcgcgcccgactccacccgggacggggcgctg
ctgatcgccggctccgaggcccccaagcgcggcagcatcctcagcaaacctcgcgcgggc
ggcgcgggcgccgggaagccccccaagcgcaacgccttctaccgcaagctgcagaatttc
ctctacaacgtgctggagcggccgcgcggctgggcgttcatctaccacgcctacgtgttc
ctcctggttttctcctgcctcgtgctgtctgtgttttccaccatcaaggagtatgagaag
agctcggagggggccctctacatcctggaaatcgtgactatcgtggtgtttggcgtggag
tacttcgtgcggatctgggccgcaggctgctgctgccggtaccgtggctggagggggcgg
ctcaagtttgcccggaaaccgttctgtgtgattgacatcatggtgctcatcgcctccatt
gcggtgctggccgccggctcccagggcaacgtctttgccacatctgcgctccggagcctg
cgcttcctgcagattctgcggatgatccgcatggaccggcggggaggcacctggaagctg
ctgggctctgtggtctatgcccacagcaaggagctggtcactgcctggtacatcggcttc
ctttgtctcatcctggcctcgttcctggtgtacttggcagagaagggggagaacgaccac
tttgacacctacgcggatgcactctggtggggcctgatcacgctgaccaccattggctac
ggggacaagtacccccagacctggaacggcaggctccttgcggcaaccttcaccctcatc
ggtgtctccttcttcgcgctgcctgcaggcatcttggggtctgggtttgccctgaaggtt
caggagcagcacaggcagaagcactttgagaagaggcggaacccggcagcaggcctgatc
cagtcggcctggagattctacgccaccaacctctcgcgcacagacctgcactccacgtgg
cagtactacgagcgaacggtcaccgtgcccatgtacagttcgcaaactcaaacctacggg
gcctccagacttatccccccgctgaaccagctggagctgctgaggaacctcaagagtaaa
tctggactcgctttcaggaaggaccccccgccggagccgtctccaagtaaaggcagcccg
tgcagagggcccctgtgtggatgctgccccggacgctctagccagaaggtcagtttgaaa
gatcgtgtcttctccagcccccgaggcgtggctgccaaggggaaggggtccccgcaggcc
cagactgtgaggcggtcacccagcgccgaccagagcctcgaggacagccccagcaaggtg
cccaagagctggagcttcggggaccgcagccgggcacgccaggctttccgcatcaagggt
gccgcgtcacggcagaactcagaagaagcaagcctccccggagaggacattgtggatgac
aagagctgcccctgcgagtttgtgaccgaggacctgaccccgggcctcaaagtcagcatc
agagccgtgtgtgtcatgcggttcctggtgtccaagcggaagttcaaggagagcctgcgg
ccctacgacgtgatggacgtcatcgagcagtactcagccggccacctggacatgctgtcc
cgaattaagagcctgcagtccagagtggaccagatcgtggggcggggcccagcgatcacg
gacaaggaccgcaccaagggcccggccgaggcggagctgcccgaggaccccagcatgatg
ggacggctcgggaaggtggagaagcaggtcttgtccatggagaagaagctggacttcctg
gtgaatatctacatgcagcggatgggcatccccccgacagagaccgaggcctactttggg
gccaaagagccggagccggcgccgccgtaccacagcccggaagacagccgggagcatgtc
gacaggcacggctgcattgtcaagatcgtgcgctccagcagctccacgggccagaagaac
ttctcggcgcccccggccgcgccccctgtccagtgtccgccctccacctcctggcagcca
cagagccacccgcgccagggccacggcacctcccccgtgggggaccacggctccctggtg
cgcatcccgccgccgcctgcccacgagcggtcgctgtccgcctacggcgggggcaaccgc
gccagcatggagttcctgcggcaggaggacaccccgggctgcaggccccccgaggggaac
ctgcgggacagcgacacgtccatctccatcccgtccgtggaccacgaggagctggagcgt
tccttcagcggcttcagcatctcccagtccaaggagaacctggatgctctcaacagctgc
tacgcggccgtggcgccttgtgccaaagtcaggccctacattgcggagggagagtcagac
accgactccgacctctgtaccccgtgcgggcccccgccacgctcggccaccggcgagggt
ccctttggtgacgtgggctgggccgggcccaggaagtga

KEGG   Homo sapiens (human): 3786
Entry
3786              CDS       T01001                                 
Symbol
KCNQ3, BFNC2, EBN2, KV7.3
Name
(RefSeq) potassium voltage-gated channel subfamily Q member 3
  KO
K04928  potassium voltage-gated channel KQT-like subfamily member 3
Organism
hsa  Homo sapiens (human)
Pathway
hsa04517  IgSF CAM signaling
hsa04725  Cholinergic synapse
Network
nt06541  Cytoskeleton in neurons
nt06546  IgSF CAM signaling
  Element
N01848  Membrane-associated periodic skeleton (MPS)
N01933  NrCAM interactions
Disease
H00806  Benign familial neonatal seizure
Drug target
Azetukalner: D12890
Flindokalner: D04192
Opakalim: D13061
Retigabine: D09569
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09133 Signaling molecules and interaction
   04517 IgSF CAM signaling
    3786 (KCNQ3)
 09150 Organismal Systems
  09156 Nervous system
   04725 Cholinergic synapse
    3786 (KCNQ3)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    3786 (KCNQ3)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Potassium channel, voltage-gated (Kv)
   3786 (KCNQ3)
SSDB
Motif
Pfam: KCNQ_channel KCNQC3-Ank-G_bd Ion_trans Ion_trans_2 Lig_chan DUF7407
Other DBs
NCBI-GeneID: 3786
NCBI-ProteinID: NP_004510
OMIM: 602232
HGNC: 6297
Ensembl: ENSG00000184156
UniProt: O43525
Structure
LinkDB
Position
8:complement(132120861..132481095)
AA seq 872 aa
MGLKARRAAGAAGGGGDGGGGGGGAANPAGGDAAAAGDEERKVGLAPGDVEQVTLALGAG
ADKDGTLLLEGGGRDEGQRRTPQGIGLLAKTPLSRPVKRNNAKYRRIQTLIYDALERPRG
WALLYHALVFLIVLGCLILAVLTTFKEYETVSGDWLLLLETFAIFIFGAEFALRIWAAGC
CCRYKGWRGRLKFARKPLCMLDIFVLIASVPVVAVGNQGNVLATSLRSLRFLQILRMLRM
DRRGGTWKLLGSAICAHSKELITAWYIGFLTLILSSFLVYLVEKDVPEVDAQGEEMKEEF
ETYADALWWGLITLATIGYGDKTPKTWEGRLIAATFSLIGVSFFALPAGILGSGLALKVQ
EQHRQKHFEKRRKPAAELIQAAWRYYATNPNRIDLVATWRFYESVVSFPFFRKEQLEAAS
SQKLGLLDRVRLSNPRGSNTKGKLFTPLNVDAIEESPSKEPKPVGLNNKERFRTAFRMKA
YAFWQSSEDAGTGDPMAEDRGYGNDFPIEDMIPTLKAAIRAVRILQFRLYKKKFKETLRP
YDVKDVIEQYSAGHLDMLSRIKYLQTRIDMIFTPGPPSTPKHKKSQKGSAFTFPSQQSPR
NEPYVARPSTSEIEDQSMMGKFVKVERQVQDMGKKLDFLVDMHMQHMERLQVQVTEYYPT
KGTSSPAEAEKKEDNRYSDLKTIICNYSETGPPEPPYSFHQVTIDKVSPYGFFAHDPVNL
PRGGPSSGKVQATPPSSATTYVERPTVLPILTLLDSRVSCHSQADLQGPYSDRISPRQRR
SITRDSDTPLSLMSVNHEELERSPSGFSISQDRDDYVFGPNGGSSWMREKRYLAEGETDT
DTDPFTPSGSMPLSSTGDGISDSVWTPSNKPI
NT seq 2619 nt   +upstreamnt  +downstreamnt
atggggctcaaggcgcgcagggcggcgggggcggctggcggcggcggcgacgggggcggc
ggaggcggcggggcggctaacccagccggaggggacgcggcggcggccggcgacgaggag
cggaaagtggggctggcgcccggcgacgtggagcaagtcaccttggcgctcggggccgga
gccgacaaagacgggaccctgctgctggagggcggcggccgcgacgaggggcagcggagg
accccgcagggcatcgggctcctggccaagaccccgctgagccgcccagtcaagagaaac
aacgccaagtaccggcgcatccaaactttgatctacgacgccctggagagaccgcggggc
tgggcgctgctttaccacgcgttggtgttcctgattgtcctggggtgcttgattctggct
gtcctgaccacattcaaggagtatgagactgtctcgggagactggcttctgttactggag
acatttgctattttcatctttggagccgagtttgctttgaggatctgggctgctggatgt
tgctgccgatacaaaggctggcggggccgactgaagtttgccaggaagcccctgtgcatg
ttggacatctttgtgctgattgcctctgtgccagtggttgctgtgggaaaccaaggcaat
gttctggccacctccctgcgaagcctgcgcttcctgcagatcctgcgcatgctgcggatg
gaccggagaggtggcacctggaagcttctgggctcagccatctgtgcccacagcaaagaa
ctcatcacggcctggtacatcggtttcctgacactcatcctttcttcatttcttgtctac
ctggttgagaaagacgtcccagaggtggatgcacaaggagaggagatgaaagaggagttt
gagacctatgcagatgccctgtggtggggcctgatcacactggccaccattggctatgga
gacaagacacccaaaacgtgggaaggccgtctgattgccgccaccttttccttaattggc
gtctccttttttgcccttccagcgggcatcctggggtccgggctggccctcaaggtgcag
gagcaacaccgtcagaagcactttgagaaaaggaggaagccagctgctgagctcattcag
gctgcctggaggtattatgctaccaaccccaacaggattgacctggtggcgacatggaga
ttttatgaatcagtcgtctcttttcctttcttcaggaaagaacagctggaggcagcatcc
agccaaaagctgggtctcttggatcgggttcgcctttctaatcctcgtggtagcaatact
aaaggaaagctatttacccctctgaatgtagatgccatagaagaaagtccttctaaagaa
ccaaagcctgttggcttaaacaataaagagcgtttccgcacggccttccgcatgaaagcc
tacgctttctggcagagttctgaagatgccgggacaggtgaccccatggcggaagacagg
ggctatgggaatgacttccccatcgaagacatgatccccaccctgaaggccgccatccga
gccgtcagaattctacaattccgtctctataaaaaaaaattcaaggagactttgaggcct
tacgatgtgaaggatgtgattgagcagtattctgccgggcatctcgacatgctttccagg
ataaagtaccttcagacgagaatagatatgattttcacccctggacctccctccacgcca
aaacacaagaagtctcagaaagggtcagcattcaccttcccatcccagcaatctcccagg
aatgaaccatatgtagccagaccatccacatcagaaatcgaagaccaaagcatgatgggg
aagtttgtaaaagttgaaagacaggttcaggacatggggaagaagctggacttcctcgtg
gatatgcacatgcaacacatggaacggttgcaggtgcaggtcacggagtattacccaacc
aagggcacctcctcgccagctgaagcagagaagaaggaggacaacaggtattccgatttg
aaaaccatcatctgcaactattctgagacaggccccccggaaccaccctacagcttccac
caggtgaccattgacaaagtcagcccctatgggttttttgcacatgaccctgtgaacctg
ccccgagggggacccagttctggaaaggttcaggcaactcctccttcctcagcaacaacg
tatgtggagaggcccacggtcctgcctatcttgactcttctcgactcccgagtgagctgc
cactcccaggctgacctgcagggcccctactcggaccgaatctccccccggcagagacgt
agcatcacgcgagacagtgacacacctctgtccctgatgtcggtcaaccacgaggagctg
gagaggtctccaagtggcttcagcatctcccaggacagagatgattatgtgttcggcccc
aatggggggtcgagctggatgagggagaagcggtacctcgccgagggtgagacggacaca
gacacggaccccttcacgcccagcggctccatgcctctgtcgtccacaggggatgggatt
tctgattcagtatggaccccttccaataagcccatttaa

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