KEGG   Homo sapiens (human): 3785Help
Entry
3785              CDS       T01001                                 

Gene name
KCNQ2, BFNC, EBN, EBN1, ENB1, HNSPC, KCNA11, KV7.2
Definition
(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
hsa04725  Cholinergic synapse
Disease
H00606  Early infantile epileptic encephalopathy
H00806  Benign familial neonatal and infantile epilepsies
Drug target
Flindokalner: D04192
Retigabine: D09569
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Organismal Systems
  Nervous system
   04725 Cholinergic synapse
    3785 (KCNQ2)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Potassium channel, voltage-gated (Kv)
   3785 (KCNQ2)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: KCNQ_channel KCNQC3-Ank-G_bd KCNQ2_u3 Ion_trans Ion_trans_2
Motif
Other DBs
NCBI-GeneID: 3785
NCBI-ProteinID: NP_742105
OMIM: 602235
HGNC: 6296
Ensembl: ENSG00000075043
Vega: OTTHUMG00000033049
Pharos: O43526(Tclin)
UniProt: O43526
Structure
PDB: 

Position
20q13.33
AA seq 872 aa AA seqDB search
MVQKSRNGGVYPGPSGEKKLKVGFVGLDPGAPDSTRDGALLIAGSEAPKRGSILSKPRAG
GAGAGKPPKRNAFYRKLQNFLYNVLERPRGWAFIYHAYVFLLVFSCLVLSVFSTIKEYEK
SSEGALYILEIVTIVVFGVEYFVRIWAAGCCCRYRGWRGRLKFARKPFCVIDIMVLIASI
AVLAAGSQGNVFATSALRSLRFLQILRMIRMDRRGGTWKLLGSVVYAHSKELVTAWYIGF
LCLILASFLVYLAEKGENDHFDTYADALWWGLITLTTIGYGDKYPQTWNGRLLAATFTLI
GVSFFALPAGILGSGFALKVQEQHRQKHFEKRRNPAAGLIQSAWRFYATNLSRTDLHSTW
QYYERTVTVPMYSSQTQTYGASRLIPPLNQLELLRNLKSKSGLAFRKDPPPEPSPSKGSP
CRGPLCGCCPGRSSQKVSLKDRVFSSPRGVAAKGKGSPQAQTVRRSPSADQSLEDSPSKV
PKSWSFGDRSRARQAFRIKGAASRQNSEEASLPGEDIVDDKSCPCEFVTEDLTPGLKVSI
RAVCVMRFLVSKRKFKESLRPYDVMDVIEQYSAGHLDMLSRIKSLQSRVDQIVGRGPAIT
DKDRTKGPAEAELPEDPSMMGRLGKVEKQVLSMEKKLDFLVNIYMQRMGIPPTETEAYFG
AKEPEPAPPYHSPEDSREHVDRHGCIVKIVRSSSSTGQKNFSAPPAAPPVQCPPSTSWQP
QSHPRQGHGTSPVGDHGSLVRIPPPPAHERSLSAYGGGNRASMEFLRQEDTPGCRPPEGN
LRDSDTSISIPSVDHEELERSFSGFSISQSKENLDALNSCYAAVAPCAKVRPYIAEGESD
TDSDLCTPCGPPPRSATGEGPFGDVGWAGPRK
NT seq 2619 nt NT seq  +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

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