KEGG   Homo sapiens (human): 100134444
Entry
100134444         CDS       T01001                                 

Gene name
KCNJ18, KIR2.6, TTPP2
Definition
(RefSeq) potassium inwardly rectifying channel subfamily J member 18
  KO
K05005  potassium inwardly-rectifying channel subfamily J member 12/18
Organism
hsa  Homo sapiens (human)
Pathway
hsa04725  Cholinergic synapse
hsa04921  Oxytocin signaling pathway
Disease
H00747  Thyrotoxic hypokalemic periodic paralysis
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09152 Endocrine system
   04921 Oxytocin signaling pathway
    100134444 (KCNJ18)
  09156 Nervous system
   04725 Cholinergic synapse
    100134444 (KCNJ18)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    100134444 (KCNJ18)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Potassium channel, inwardly-rectifying (Kir)
   100134444 (KCNJ18)
SSDB
Motif
Pfam: IRK_C IRK IRK_N Ion_trans_2 DUF92
Other DBs
NCBI-GeneID: 100134444
NCBI-ProteinID: NP_001181887
OMIM: 613236
HGNC: 39080
Ensembl: ENSG00000260458
Vega: OTTHUMG00000175863
Pharos: B7U540(Tdark)
UniProt: B7U540
LinkDB
Position
17p11.2
AA seq 433 aa
MTAASRANPYSIVSLEEDGLHLVTMSGANGFGNGKVHTRRRCRNRFVKKNGQCNIAFANM
DEKSQRYLADMFTTCVDIRWRYMLLIFSLAFLASWLLFGVIFWVIAVAHGDLEPAEGHGR
TPCVMQVHGFMAAFLFSIETQTTIGYGLRCVTEECLVAVFMVVAQSIVGCIIDSFMIGAI
MAKMARPKKRAQTLLFSHNAVVALRDGKLCLMWRVGNLRKSHIVEAHVRAQLIKPRVTEE
GEYIPLDQIDIDVGFDKGLDRIFLVSPITILHEIDEASPLFGISRQDLETDDFEIVVILE
GMVEATAMTTQARSSYLANEILWGHRFEPVLFEEKNQYKIDYSHFHKTYEVPSTPRCSAK
DLVENKFLLPSANSFCYENELAFLSRDEEDEADGDQDGRSRDGLSPQARHDFDRLQAGGG
VLEQRPYRRGSEI
NT seq 1302 nt   +upstreamnt  +downstreamnt
atgaccgcggccagccgggccaacccctacagcatcgtgtcattggaggaggacgggctg
cacctggtcaccatgtcgggcgccaacggcttcggcaacggcaaggtgcacacgcggcgc
aggtgccgcaaccgcttcgtcaagaagaatggccagtgcaacattgcgttcgccaacatg
gacgagaagtcacagcgctacctggctgacatgttcaccacctgtgtggacatccgctgg
cgctacatgctgctcatcttctcgctggccttccttgcctcctggctgctgttcggcgtc
atcttctgggtcatcgcggtggcacacggtgacctggagccggctgagggccacggccgc
acaccctgtgtgatgcaggtgcacggcttcatggcggccttcctcttctccatcgagacg
cagaccaccatcggctacgggctgcgctgtgtgacggaggagtgcctggtggccgtcttc
atggtggtggcccagtccatcgtgggctgcatcatcgactccttcatgattggtgccatc
atggccaagatggcaaggcccaagaagcgggcacagacgctgctgttcagccacaacgcc
gtggtggccctgcgtgacggcaagctctgcctcatgtggcgtgtgggcaacctgcgcaag
agccacattgtggaggcccatgtgcgcgcgcagctcatcaagccgcgggtcaccgaggag
ggcgagtacatcccgctggaccagatcgacatcgatgtgggcttcgacaagggcctggac
cgcatctttctggtgtcgcccatcaccatcttgcatgaaattgacgaggccagcccgctc
ttcggcatcagccggcaggacctggagacggacgactttgagatcgtggtcatcctggaa
ggcatggtggaggccacagccatgaccacccaggcccgcagctcctacctggccaatgag
atcctgtggggtcaccgctttgagcccgtgctcttcgaggagaagaaccagtacaagatt
gactactcgcacttccacaagacctatgaggtgccctctacgccccgctgcagtgcgaag
gatctggtagagaacaagttcctgctgcccagtgccaactccttctgctatgagaacgag
ctggccttcctgagccgtgacgaggaggatgaggcggacggagaccaggacggccgaagc
cgggatggcctcagcccccaggccaggcatgactttgacagactccaggctggcggcggg
gtcctggagcagcggccctacagacgggggtcagagatctga

KEGG   Homo sapiens (human): 3759
Entry
3759              CDS       T01001                                 

Gene name
KCNJ2, ATFB9, HHBIRK1, HHIRK1, IRK1, KIR2.1, LQT7, SQT3
Definition
(RefSeq) potassium inwardly rectifying channel subfamily J member 2
  KO
K04996  potassium inwardly-rectifying channel subfamily J member 2
Organism
hsa  Homo sapiens (human)
Pathway
hsa04725  Cholinergic synapse
hsa04921  Oxytocin signaling pathway
hsa04924  Renin secretion
hsa04971  Gastric acid secretion
Disease
H00215  Periodic paralysis
H00720  Long QT syndrome
H00725  Short QT syndrome
H00731  Atrial fibrillation
H00748  Andersen-Tawil syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09152 Endocrine system
   04921 Oxytocin signaling pathway
    3759 (KCNJ2)
   04924 Renin secretion
    3759 (KCNJ2)
  09154 Digestive system
   04971 Gastric acid secretion
    3759 (KCNJ2)
  09156 Nervous system
   04725 Cholinergic synapse
    3759 (KCNJ2)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    3759 (KCNJ2)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Potassium channel, inwardly-rectifying (Kir)
   3759 (KCNJ2)
SSDB
Motif
Pfam: IRK_C IRK IRK_N Ion_trans_2 Ion_trans
Other DBs
NCBI-GeneID: 3759
NCBI-ProteinID: NP_000882
OMIM: 600681
HGNC: 6263
Ensembl: ENSG00000123700
Vega: OTTHUMG00000180351
Pharos: P63252(Tbio)
UniProt: P63252
LinkDB
Position
17q24.3
AA seq 427 aa
MGSVRTNRYSIVSSEEDGMKLATMAVANGFGNGKSKVHTRQQCRSRFVKKDGHCNVQFIN
VGEKGQRYLADIFTTCVDIRWRWMLVIFCLAFVLSWLFFGCVFWLIALLHGDLDASKEGK
ACVSEVNSFTAAFLFSIETQTTIGYGFRCVTDECPIAVFMVVFQSIVGCIIDAFIIGAVM
AKMAKPKKRNETLVFSHNAVIAMRDGKLCLMWRVGNLRKSHLVEAHVRAQLLKSRITSEG
EYIPLDQIDINVGFDSGIDRIFLVSPITIVHEIDEDSPLYDLSKQDIDNADFEIVVILEG
MVEATAMTTQCRSSYLANEILWGHRYEPVLFEEKHYYKVDYSRFHKTYEVPNTPLCSARD
LAEKKYILSNANSFCYENEVALTSKEEDDSENGVPESTSTDTPPDIDLHNQASVPLEPRP
LRRESEI
NT seq 1284 nt   +upstreamnt  +downstreamnt
atgggcagtgtgcgaaccaaccgctacagcatcgtctcttcagaagaagacggtatgaag
ttggccaccatggcagttgcaaatggctttgggaacgggaagagtaaagtccacacccga
caacagtgcaggagccgctttgtgaagaaagatggccactgtaatgttcagttcatcaat
gtgggtgagaaggggcaacggtacctcgcagacatcttcaccacgtgtgtggacattcgc
tggcggtggatgctggttatcttctgcctggctttcgtcctgtcatggctgttttttggc
tgtgtgttttggttgatagctctgctccatggggacctggatgcatccaaagagggcaaa
gcttgtgtgtccgaggtcaacagcttcacggctgccttcctcttctccattgagacccag
acaaccataggctatggtttcagatgtgtcacggatgaatgcccaattgctgttttcatg
gtggtgttccagtcaatcgtgggctgcatcatcgatgctttcatcattggcgcagtcatg
gccaagatggcaaagccaaagaagagaaacgagactcttgtcttcagtcacaatgccgtg
attgccatgagagacggcaagctgtgtttgatgtggcgagtgggcaatcttcggaaaagc
cacttggtggaagctcatgttcgagcacagctcctcaaatccagaattacttctgaaggg
gagtatatccctctggatcaaatagacatcaatgttgggtttgacagtggaatcgatcgt
atatttctggtgtccccaatcactatagtccatgaaatagatgaagacagtcctttatat
gatttgagtaaacaggacattgacaacgcagactttgaaatcgtggtcatactggaaggc
atggtggaagccactgccatgacgacacagtgccgtagctcttatctagcaaatgaaatc
ctgtggggccaccgctatgagcctgtgctctttgaagagaagcactactacaaagtggac
tattccaggttccacaaaacttacgaagtccccaacactcccctttgtagtgccagagac
ttagcagaaaagaaatatatcctctcaaatgcaaattcattttgctatgaaaatgaagtt
gccctcacaagcaaagaggaagacgacagtgaaaatggagttccagaaagcactagtacg
gacacgccccctgacatagaccttcacaaccaggcaagtgtacctctagagcccaggccc
ttacggcgagagtcggagatatga

KEGG   Homo sapiens (human): 3761
Entry
3761              CDS       T01001                                 

Gene name
KCNJ4, HIR, HIRK2, HRK1, IRK-3, IRK3, Kir2.3
Definition
(RefSeq) potassium inwardly rectifying channel subfamily J member 4
  KO
K04998  potassium inwardly-rectifying channel subfamily J member 4
Organism
hsa  Homo sapiens (human)
Pathway
hsa04725  Cholinergic synapse
hsa04921  Oxytocin signaling pathway
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09152 Endocrine system
   04921 Oxytocin signaling pathway
    3761 (KCNJ4)
  09156 Nervous system
   04725 Cholinergic synapse
    3761 (KCNJ4)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    3761 (KCNJ4)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Potassium channel, inwardly-rectifying (Kir)
   3761 (KCNJ4)
SSDB
Motif
Pfam: IRK_C IRK Ion_trans_2 DUF92
Other DBs
NCBI-GeneID: 3761
NCBI-ProteinID: NP_004972
OMIM: 600504
HGNC: 6265
Ensembl: ENSG00000168135
Vega: OTTHUMG00000151131
Pharos: P48050(Tchem)
UniProt: P48050 A0A024R1L8
LinkDB
Position
22q13.1
AA seq 445 aa
MHGHSRNGQAHVPRRKRRNRFVKKNGQCNVYFANLSNKSQRYMADIFTTCVDTRWRYMLM
IFSAAFLVSWLFFGLLFWCIAFFHGDLEASPGVPAAGGPAAGGGGAAPVAPKPCIMHVNG
FLGAFLFSVETQTTIGYGFRCVTEECPLAVIAVVVQSIVGCVIDSFMIGTIMAKMARPKK
RAQTLLFSHHAVISVRDGKLCLMWRVGNLRKSHIVEAHVRAQLIKPYMTQEGEYLPLDQR
DLNVGYDIGLDRIFLVSPIIIVHEIDEDSPLYGMGKEELESEDFEIVVILEGMVEATAMT
TQARSSYLASEILWGHRFEPVVFEEKSHYKVDYSRFHKTYEVAGTPCCSARELQESKITV
LPAPPPPPSAFCYENELALMSQEEEEMEEEAAAAAAVAAGLGLEAGSKEEAGIIRMLEFG
SHLDLERMQASLPLDNISYRRESAI
NT seq 1338 nt   +upstreamnt  +downstreamnt
atgcacggacacagccgcaacggccaggcccacgtgccccggcggaagcgccgcaaccgc
ttcgtcaagaagaacggccaatgcaacgtgtacttcgccaacctgagcaacaagtcgcag
cgctacatggcggacatcttcaccacctgcgtggacacgcgctggcgctacatgctcatg
atcttctccgcggccttccttgtctcctggctctttttcggcctcctcttctggtgtatc
gccttcttccacggtgacctggaggccagcccaggggtgcctgcggcggggggcccggcg
gcgggtggtggcggagcagccccggtggcccccaagccctgcatcatgcacgtgaacggc
ttcctgggtgccttcctgttctcggtggagacgcagacgaccatcggctatgggttccgg
tgcgtgacagaggagtgcccgctggcagtcatcgctgtggtggtccagtccatcgtgggc
tgcgtcatcgactccttcatgattggcaccatcatggccaagatggcgcggcccaagaag
cgggcgcagacgttgctgttcagccaccacgcggtcatttcggtgcgcgacggcaagctc
tgcctcatgtggcgcgtgggcaacctgcgcaagagccacattgtggaggcccacgtgcgg
gcccagctcatcaagccctacatgacccaggagggcgagtacctgcccctggaccagcgg
gacctcaacgtgggctatgacatcggcctggaccgcatcttcctggtgtcgcccatcatc
attgtccacgagatcgacgaggacagcccgctttatggcatgggcaaggaggagctggag
tcggaggactttgagatcgtggtcatcctggagggcatggtggaggccacggccatgacc
acccaggcccgcagctcctacctggccagcgagatcctgtggggccaccgctttgagcct
gtggtcttcgaggagaagagccactacaaggtggactactcacgttttcacaagacctac
gaggtggccggcacgccctgctgctcggcccgggagctgcaggagagtaagatcaccgtg
ctgcccgccccaccgccccctcccagtgccttctgctacgagaacgagctggcccttatg
agccaggaggaagaggagatggaggaggaggcagctgcggcggccgcggtggccgcaggc
ctgggcctggaggcgggttccaaggaggaggcgggcatcatccggatgctggagttcggc
agccacctggacctggagcgcatgcaggcttccctcccgctggacaacatctcctaccgc
agggagtctgccatctga

KEGG   Homo sapiens (human): 3768
Entry
3768              CDS       T01001                                 

Gene name
KCNJ12, IRK-2, IRK2, KCNJN1, Kir2.2, Kir2.2v, hIRK, hIRK1, hkir2.2x, kcnj12x
Definition
(RefSeq) potassium inwardly rectifying channel subfamily J member 12
  KO
K05005  potassium inwardly-rectifying channel subfamily J member 12/18
Organism
hsa  Homo sapiens (human)
Pathway
hsa04725  Cholinergic synapse
hsa04921  Oxytocin signaling pathway
Drug target
Amiodarone (DG00204): D00636<JP/US> D02910
Bepridil (DG00333): D00631<JP> D07520
Nifekalant hydrochloride: D01856<JP>
Terikalant: D09757
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09152 Endocrine system
   04921 Oxytocin signaling pathway
    3768 (KCNJ12)
  09156 Nervous system
   04725 Cholinergic synapse
    3768 (KCNJ12)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    3768 (KCNJ12)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Potassium channel, inwardly-rectifying (Kir)
   3768 (KCNJ12)
SSDB
Motif
Pfam: IRK_C IRK IRK_N Ion_trans_2 DUF92
Other DBs
NCBI-GeneID: 3768
NCBI-ProteinID: NP_066292
OMIM: 602323
HGNC: 6258
Ensembl: ENSG00000184185
Vega: OTTHUMG00000132039
Pharos: Q14500(Tbio)
UniProt: Q14500
LinkDB
Position
17p11.2
AA seq 433 aa
MTAASRANPYSIVSSEEDGLHLVTMSGANGFGNGKVHTRRRCRNRFVKKNGQCNIEFANM
DEKSQRYLADMFTTCVDIRWRYMLLIFSLAFLASWLLFGIIFWVIAVAHGDLEPAEGRGR
TPCVMQVHGFMAAFLFSIETQTTIGYGLRCVTEECPVAVFMVVAQSIVGCIIDSFMIGAI
MAKMARPKKRAQTLLFSHNAVVALRDGKLCLMWRVGNLRKSHIVEAHVRAQLIKPRVTEE
GEYIPLDQIDIDVGFDKGLDRIFLVSPITILHEIDEASPLFGISRQDLETDDFEIVVILE
GMVEATAMTTQARSSYLANEILWGHRFEPVLFEEKNQYKIDYSHFHKTYEVPSTPRCSAK
DLVENKFLLPSANSFCYENELAFLSRDEEDEADGDQDGRSRDGLSPQARHDFDRLQAGGG
VLEQRPYRRESEI
NT seq 1302 nt   +upstreamnt  +downstreamnt
atgaccgcggccagccgggccaacccctacagcatcgtgtcatcggaggaggacgggctg
cacctggtcaccatgtcgggcgccaacggcttcggcaacggcaaggtgcacacgcggcgc
aggtgccgcaaccgcttcgtcaagaagaatggccagtgcaacattgagttcgccaacatg
gacgagaagtcacagcgctacctggctgacatgttcaccacctgtgtggacatccgctgg
cggtacatgctgctcatcttctcgctggccttccttgcctcctggctgctgttcggcatc
atcttctgggtcatcgcggtggcacacggtgacctggagccggctgagggccggggccgc
acaccctgtgtgatgcaggtgcacggcttcatggcggccttcctcttctccatcgagacg
cagaccaccatcggctacgggctgcgctgtgtgacggaggagtgcccggtggccgtcttc
atggtggtggcccagtccatcgtgggctgcatcatcgactccttcatgattggtgccatc
atggccaagatggcaaggcccaagaagcgggcacagacgctgctgttcagccacaacgcc
gtggtggccctgcgtgacggcaagctctgcctcatgtggcgtgtgggtaacctgcgcaag
agccacattgtggaggcccatgtgcgcgcgcagctcatcaagccgcgggtcaccgaggag
ggcgagtacatcccgctggaccagatcgacatcgatgtgggcttcgacaagggcctggac
cgcatctttctggtgtcgcccatcaccatcttgcatgagattgacgaggccagcccgctc
ttcggcatcagccggcaggacctggagacggacgactttgagatcgtggtcatcctggaa
ggcatggtggaggccacagccatgaccacccaggcccgcagctcctacctggccaatgag
atcctgtggggtcaccgctttgagcccgtgctcttcgaggagaagaaccagtacaagatt
gactactcgcacttccacaagacctatgaggtgccctctacgccccgctgcagtgcgaag
gatctggtagagaacaagttcctgctgcccagcgccaactccttctgctacgagaacgag
ctggccttcctgagccgtgacgaggaggatgaggcggacggagaccaggacggccgaagc
cgggacggcctcagcccccaggccaggcatgactttgacagactccaggctggcggcggg
gtcctggagcagcggccctacagacgggagtcagagatctga

KEGG   Homo sapiens (human): 3770
Entry
3770              CDS       T01001                                 

Gene name
KCNJ14, IRK4, KIR2.4
Definition
(RefSeq) potassium inwardly rectifying channel subfamily J member 14
  KO
K05007  potassium inwardly-rectifying channel subfamily J member 14
Organism
hsa  Homo sapiens (human)
Pathway
hsa04725  Cholinergic synapse
hsa04921  Oxytocin signaling pathway
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09152 Endocrine system
   04921 Oxytocin signaling pathway
    3770 (KCNJ14)
  09156 Nervous system
   04725 Cholinergic synapse
    3770 (KCNJ14)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    3770 (KCNJ14)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Potassium channel, inwardly-rectifying (Kir)
   3770 (KCNJ14)
SSDB
Motif
Pfam: IRK_C IRK Ion_trans_2
Other DBs
NCBI-GeneID: 3770
NCBI-ProteinID: NP_037480
OMIM: 603953
HGNC: 6260
Ensembl: ENSG00000182324
Vega: OTTHUMG00000183307
Pharos: Q9UNX9(Tdark)
UniProt: Q9UNX9
LinkDB
Position
19q13.33
AA seq 436 aa
MGLARALRRLSGALDSGDSRAGDEEEAGPGLCRNGWAPAPVQSPVGRRRGRFVKKDGHCN
VRFVNLGGQGARYLSDLFTTCVDVRWRWMCLLFSCSFLASWLLFGLAFWLIASLHGDLAA
PPPPAPCFSHVASFLAAFLFALETQTSIGYGVRSVTEECPAAVAAVVLQCIAGCVLDAFV
VGAVMAKMAKPKKRNETLVFSENAVVALRDHRLCLMWRVGNLRRSHLVEAHVRAQLLQPR
VTPEGEYIPLDHQDVDVGFDGGTDRIFLVSPITIVHEIDSASPLYELGRAELARADFELV
VILEGMVEATAMTTQCRSSYLPGELLWGHRFEPVLFQRGSQYEVDYRHFHRTYEVPGTPV
CSAKELDERAEQASHSLKSSFPGSLTAFCYENELALSCCQEEDEDDETEEGNGVETEDGA
ASPRVLTPTLALTLPP
NT seq 1311 nt   +upstreamnt  +downstreamnt
atgggcctggccagggccctacgccgcctcagcggcgccctggattcgggagacagccgg
gcgggcgatgaagaggaggccgggcccgggttgtgccgcaacgggtgggcgccggcaccg
gtgcagtcacccgtgggccggcgccgcggtcgcttcgtcaagaaagacgggcactgcaac
gtgcgtttcgtaaacctgggtggccagggcgcgcgctacctgagcgacctgttcaccaca
tgcgtggacgtgcgctggcgctggatgtgcctgctcttctcctgctccttcctcgcctcc
tggctgctcttcggcctggccttctggctcattgcctcgctgcacggcgacctggccgcc
ccgccaccgcccgcgccctgcttctcacacgtggccagcttcctggccgccttcctcttc
gcgctggagacgcagacgtccatcggctacggcgtgcgcagcgtcaccgaggagtgcccg
gccgctgtggccgccgtggtgctgcagtgcattgccggctgcgtgctcgacgccttcgtc
gtgggtgctgtcatggccaagatggccaaacccaagaagcgcaacgagacgctggtcttc
agcgagaacgccgtcgtggcgctgcgcgaccaccgcctctgcctcatgtggcgcgtcggc
aacctgcgccgcagccacctggtcgaggcccacgtgcgtgcccagctgctgcagccccgt
gtgaccccagagggtgagtacatcccgctggaccaccaggatgtggatgtgggctttgat
ggaggcaccgatcgtatcttcctcgtgtcccccatcaccatcgtccatgagatcgactct
gccagtcctctgtatgagctaggacgtgccgagctggccagggctgactttgagctggtg
gtcattctcgaggggatggttgaggccacagccatgaccacacagtgtcgctcgtcctac
ctccctggtgaactgctctggggccatcgttttgagccagttctcttccagcgtggctcc
cagtatgaggtcgactatcgccacttccatcgcacttatgaggtcccagggacaccggtc
tgcagtgctaaggagctggatgaacgggcagagcaggcttcccacagcctcaagtctagt
ttccccggctctctgactgcattttgttatgagaatgaacttgctctgagctgctgccag
gaggaagatgaggacgatgagactgaggaagggaatggggtggaaacagaagatggggct
gctagcccccgagttctcacaccaaccctggcgctgaccctgcctccatga

KEGG   Homo sapiens (human): 3784
Entry
3784              CDS       T01001                                 

Gene name
KCNQ1, ATFB1, ATFB3, JLNS1, KCNA8, KCNA9, KVLQT1, Kv1.9, Kv7.1, LQT, LQT1, RWS, SQT2, WRS
Definition
(RefSeq) potassium voltage-gated channel subfamily Q member 1
  KO
K04926  potassium voltage-gated channel KQT-like subfamily member 1
Organism
hsa  Homo sapiens (human)
Pathway
hsa04261  Adrenergic signaling in cardiomyocytes
hsa04725  Cholinergic synapse
hsa04971  Gastric acid secretion
hsa04972  Pancreatic secretion
hsa04974  Protein digestion and absorption
hsa05110  Vibrio cholerae infection
Disease
H00409  Type 2 diabetes mellitus
H00720  Long QT syndrome
H00725  Short QT syndrome
H00731  Atrial fibrillation
H02091  Jervell and Lange-Nielsen syndrome
Drug target
Ambasilide: D09758
Amiodarone (DG00204): D00636<JP/US> D02910
Azimilide dihydrochloride: D03037
Bepridil (DG00333): D00631<JP> D07520
Dronedarone (DG00207): D02537 D03914<US>
Flindokalner: D04192
Retigabine: D09569
Terikalant: D09757
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09153 Circulatory system
   04261 Adrenergic signaling in cardiomyocytes
    3784 (KCNQ1)
  09154 Digestive system
   04971 Gastric acid secretion
    3784 (KCNQ1)
   04972 Pancreatic secretion
    3784 (KCNQ1)
   04974 Protein digestion and absorption
    3784 (KCNQ1)
  09156 Nervous system
   04725 Cholinergic synapse
    3784 (KCNQ1)
 09160 Human Diseases
  09171 Infectious disease: bacterial
   05110 Vibrio cholerae infection
    3784 (KCNQ1)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    3784 (KCNQ1)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Potassium channel, voltage-gated (Kv)
   3784 (KCNQ1)
SSDB
Motif
Pfam: Ion_trans KCNQ_channel Ion_trans_2 WDCP
Other DBs
NCBI-GeneID: 3784
NCBI-ProteinID: NP_000209
OMIM: 607542
HGNC: 6294
Ensembl: ENSG00000053918
Vega: OTTHUMG00000009900
Pharos: P51787(Tclin)
UniProt: P51787 Q96AI9
LinkDB
Structure
PDB: 
3HFE 3BJ4 4V0C 4UMO

Position
11p15.5-p15.4
AA seq 676 aa
MAAASSPPRAERKRWGWGRLPGARRGSAGLAKKCPFSLELAEGGPAGGALYAPIAPGAPG
PAPPASPAAPAAPPVASDLGPRPPVSLDPRVSIYSTRRPVLARTHVQGRVYNFLERPTGW
KCFVYHFAVFLIVLVCLIFSVLSTIEQYAALATGTLFWMEIVLVVFFGTEYVVRLWSAGC
RSKYVGLWGRLRFARKPISIIDLIVVVASMVVLCVGSKGQVFATSAIRGIRFLQILRMLH
VDRQGGTWRLLGSVVFIHRQELITTLYIGFLGLIFSSYFVYLAEKDAVNESGRVEFGSYA
DALWWGVVTVTTIGYGDKVPQTWVGKTIASCFSVFAISFFALPAGILGSGFALKVQQKQR
QKHFNRQIPAAASLIQTAWRCYAAENPDSSTWKIYIRKAPRSHTLLSPSPKPKKSVVVKK
KKFKLDKDNGVTPGEKMLTVPHITCDPPEERRLDHFSVDGYDSSVRKSPTLLEVSMPHFM
RTNSFAEDLDLEGETLLTPITHISQLREHHRATIKVIRRMQYFVAKKKFQQARKPYDVRD
VIEQYSQGHLNLMVRIKELQRRLDQSIGKPSLFISVSEKSKDRGSNTIGARLNRVEDKVT
QLDQRLALITDMLHQLLSLHGGSTPGSGGPPREGGAHITQPCGSGGSVDPELFLPSNTLP
TYEQLTVPRRGPDEGS
NT seq 2031 nt   +upstreamnt  +downstreamnt
atggccgcggcctcctccccgcccagggccgagaggaagcgctggggttggggccgcctg
ccaggcgcccggcggggcagcgcgggcctggccaagaagtgccccttctcgctggagctg
gcggagggcggcccggcgggcggcgcgctctacgcgcccatcgcgcccggcgccccaggt
cccgcgccccctgcgtccccggccgcgcccgccgcgcccccagttgcctccgaccttggc
ccgcggccgccggtgagcctagacccgcgcgtctccatctacagcacgcgccgcccggtg
ttggcgcgcacccacgtccagggccgcgtctacaacttcctcgagcgtcccaccggctgg
aaatgcttcgtttaccacttcgccgtcttcctcatcgtcctggtctgcctcatcttcagc
gtgctgtccaccatcgagcagtatgccgccctggccacggggactctcttctggatggag
atcgtgctggtggtgttcttcgggacggagtacgtggtccgcctctggtccgccggctgc
cgcagcaagtacgtgggcctctgggggcggctgcgctttgcccggaagcccatttccatc
atcgacctcatcgtggtcgtggcctccatggtggtcctctgcgtgggctccaaggggcag
gtgtttgccacgtcggccatcaggggcatccgcttcctgcagatcctgaggatgctacac
gtcgaccgccagggaggcacctggaggctcctgggctccgtggtcttcatccaccgccag
gagctgataaccaccctgtacatcggcttcctgggcctcatcttctcctcgtactttgtg
tacctggctgagaaggacgcggtgaacgagtcaggccgcgtggagttcggcagctacgca
gatgcgctgtggtggggggtggtcacagtcaccaccatcggctatggggacaaggtgccc
cagacgtgggtcgggaagaccatcgcctcctgcttctctgtctttgccatctccttcttt
gcgctcccagcggggattcttggctcggggtttgccctgaaggtgcagcagaagcagagg
cagaagcacttcaaccggcagatcccggcggcagcctcactcattcagaccgcatggagg
tgctatgctgccgagaaccccgactcctccacctggaagatctacatccggaaggccccc
cggagccacactctgctgtcacccagccccaaacccaagaagtctgtggtggtaaagaaa
aaaaagttcaagctggacaaagacaatggggtgactcctggagagaagatgctcacagtc
ccccatatcacgtgcgaccccccagaagagcggcggctggaccacttctctgtcgacggc
tatgacagttctgtaaggaagagcccaacactgctggaagtgagcatgccccatttcatg
agaaccaacagcttcgccgaggacctggacctggaaggggagactctgctgacacccatc
acccacatctcacagctgcgggaacaccatcgggccaccattaaggtcattcgacgcatg
cagtactttgtggccaagaagaaattccagcaagcgcggaagccttacgatgtgcgggac
gtcattgagcagtactcgcagggccacctcaacctcatggtgcgcatcaaggagctgcag
aggaggctggaccagtccattgggaagccctcactgttcatctccgtctcagaaaagagc
aaggatcgcggcagcaacacgatcggcgcccgcctgaaccgagtagaagacaaggtgacg
cagctggaccagaggctggcactcatcaccgacatgcttcaccagctgctctccttgcac
ggtggcagcacccccggcagcggcggcccccccagagagggcggggcccacatcacccag
ccctgcggcagtggcggctccgtcgaccctgagctcttcctgcccagcaacaccctgccc
acctacgagcagctgaccgtgcccaggaggggccccgatgaggggtcctga

KEGG   Homo sapiens (human): 3785
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 seizure
Drug target
Flindokalner: D04192
Retigabine: D09569
Brite
KEGG Orthology (KO) [BR:hsa00001]
 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
Other DBs
NCBI-GeneID: 3785
NCBI-ProteinID: NP_742105
OMIM: 602235
HGNC: 6296
Ensembl: ENSG00000075043
Vega: OTTHUMG00000033049
Pharos: O43526(Tclin)
UniProt: O43526
LinkDB
Structure
PDB: 
6FEG 6FEH

Position
20q13.33
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                                 

Gene name
KCNQ3, BFNC2, EBN2, KV7.3
Definition
(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
hsa04725  Cholinergic synapse
Disease
H00806  Benign familial neonatal seizure
Drug target
Flindokalner: D04192
Retigabine: D09569
Brite
KEGG Orthology (KO) [BR:hsa00001]
 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
Other DBs
NCBI-GeneID: 3786
NCBI-ProteinID: NP_004510
OMIM: 602232
HGNC: 6297
Ensembl: ENSG00000184156
Vega: OTTHUMG00000137472
Pharos: O43525(Tclin)
UniProt: O43525
LinkDB
Structure
PDB: 
5J03

Position
8q24.22
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

KEGG   Homo sapiens (human): 56479
Entry
56479             CDS       T01001                                 

Gene name
KCNQ5, Kv7.5, MRD46
Definition
(RefSeq) potassium voltage-gated channel subfamily Q member 5
  KO
K04930  potassium voltage-gated channel KQT-like subfamily member 5
Organism
hsa  Homo sapiens (human)
Pathway
hsa04725  Cholinergic synapse
Disease
H00773  Autosomal dominant mental retardation
Drug target
Flindokalner: D04192
Retigabine: D09569
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09156 Nervous system
   04725 Cholinergic synapse
    56479 (KCNQ5)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    56479 (KCNQ5)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Potassium channel, voltage-gated (Kv)
   56479 (KCNQ5)
SSDB
Motif
Pfam: KCNQ_channel Ion_trans Ion_trans_2
Other DBs
NCBI-GeneID: 56479
NCBI-ProteinID: NP_062816
OMIM: 607357
HGNC: 6299
Ensembl: ENSG00000185760
Vega: OTTHUMG00000015020
Pharos: Q9NR82(Tclin)
UniProt: Q9NR82
LinkDB
Structure
PDB: 
6B8Q

Position
6q13
AA seq 932 aa
MPRHHAGGEEGGAAGLWVKSGAAAAAAGGGRLGSGMKDVESGRGRVLLNSAAARGDGLLL
LGTRAATLGGGGGGLRESRRGKQGARMSLLGKPLSYTSSQSCRRNVKYRRVQNYLYNVLE
RPRGWAFIYHAFVFLLVFGCLILSVFSTIPEHTKLASSCLLILEFVMIVVFGLEFIIRIW
SAGCCCRYRGWQGRLRFARKPFCVIDTIVLIASIAVVSAKTQGNIFATSALRSLRFLQIL
RMVRMDRRGGTWKLLGSVVYAHSKELITAWYIGFLVLIFSSFLVYLVEKDANKEFSTYAD
ALWWGTITLTTIGYGDKTPLTWLGRLLSAGFALLGISFFALPAGILGSGFALKVQEQHRQ
KHFEKRRNPAANLIQCVWRSYAADEKSVSIATWKPHLKALHTCSPTKKEQGEASSSQKLS
FKERVRMASPRGQSIKSRQASVGDRRSPSTDITAEGSPTKVQKSWSFNDRTRFRPSLRLK
SSQPKPVIDADTALGTDDVYDEKGCQCDVSVEDLTPPLKTVIRAIRIMKFHVAKRKFKET
LRPYDVKDVIEQYSAGHLDMLCRIKSLQTRVDQILGKGQITSDKKSREKITAEHETTDDL
SMLGRVVKVEKQVQSIESKLDCLLDIYQQVLRKGSASALALASFQIPPFECEQTSDYQSP
VDSKDLSGSAQNSGCLSRSTSANISRGLQFILTPNEFSAQTFYALSPTMHSQATQVPISQ
SDGSAVAATNTIANQINTAPKPAAPTTLQIPPPLPAIKHLPRPETLHPNPAGLQESISDV
TTCLVASKENVQVAQSNLTKDRSMRKSFDMGGETLLSVCPMVPKDLGKSLSVQNLIRSTE
ELNIQLSGSESSGSRGSQDFYPKWRESKLFITDEEVGPEETETDTFDAAPQPAREAAFAS
DSLRTGRSRSSQSICKAGESTDALSLPHVKLK
NT seq 2799 nt   +upstreamnt  +downstreamnt
atgccccgccaccacgcgggaggagaggagggcggcgccgccgggctctgggtgaagagc
ggcgcagcggcggcggcggcgggcggggggcgcttgggcagcggcatgaaggatgtggag
tccggccggggcagggtgctgctgaactcggcagccgccaggggcgacggcctgctactg
ctgggcacccgcgcggccacgctcggtggcggcggcggtggcctgagggagagccgccgg
ggcaagcagggggcccggatgagcctgctggggaagccgctctcttacacgagtagccag
agctgccggcgcaacgtcaagtaccggcgggtgcagaactacctgtacaacgtgctggag
agaccccgcggctgggcgttcatctaccacgctttcgtttttctccttgtctttggttgc
ttgattttgtcagtgttttctaccatccctgagcacacaaaattggcctcaagttgcctc
ttgatcctggagttcgtgatgattgtcgtctttggtttggagttcatcattcgaatctgg
tctgcgggttgctgttgtcgatatagaggatggcaaggaagactgaggtttgctcgaaag
cccttctgtgttatagataccattgttcttatcgcttcaatagcagttgtttctgcaaaa
actcagggtaatatttttgccacgtctgcactcagaagtctccgtttcctacagatcctc
cgcatggtgcgcatggaccgaaggggaggcacttggaaattactgggttcagtggtttat
gctcacagcaaggaattaatcacagcttggtacataggatttttggttcttattttttcg
tctttccttgtctatctggtggaaaaggatgccaataaagagttttctacatatgcagat
gctctctggtggggcacaattacattgacaactattggctatggagacaaaactccccta
acttggctgggaagattgctttctgcaggctttgcactccttggcatttctttctttgca
cttcctgccggcattcttggctcaggttttgcattaaaagtacaagaacaacaccgccag
aaacactttgagaaaagaaggaacccagctgccaacctcattcagtgtgtttggcgtagt
tacgcagctgatgagaaatctgtttccattgcaacctggaagccacacttgaaggccttg
cacacctgcagccctaccaagaaagaacaaggggaagcatcaagcagtcagaagctaagt
tttaaggagcgagtgcgcatggctagccccaggggccagagtattaagagccgacaagcc
tcagtaggtgacaggaggtccccaagcaccgacatcacagccgagggcagtcccaccaaa
gtgcagaagagctggagcttcaacgaccgaacccgcttccggccctcgctgcgcctcaaa
agttctcagccaaaaccagtgatagatgctgacacagcccttggcactgatgatgtatat
gatgaaaaaggatgccagtgtgatgtatcagtggaagacctcaccccaccacttaaaact
gtcattcgagctatcagaattatgaaatttcatgttgcaaaacggaagtttaaggaaaca
ttacgtccatatgatgtaaaagatgtcattgaacaatattctgctggtcatctggacatg
ttgtgtagaattaaaagccttcaaacacgtgttgatcaaattcttggaaaagggcaaatc
acatcagataagaagagccgagagaaaataacagcagaacatgagaccacagacgatctc
agtatgctcggtcgggtggtcaaggttgaaaaacaggtacagtccatagaatccaagctg
gactgcctactagacatctatcaacaggtccttcggaaaggctctgcctcagccctcgct
ttggcttcattccagatcccaccttttgaatgtgaacagacatctgactatcaaagccct
gtggatagcaaagatctttcgggttccgcacaaaacagtggctgcttatccagatcaact
agtgccaacatctcgagaggcctgcagttcattctgacgccaaatgagttcagtgcccag
actttctacgcgcttagccctactatgcacagtcaagcaacacaggtgccaattagtcaa
agcgatggctcagcagtggcagccaccaacaccattgcaaaccaaataaatacggcaccc
aagccagcagccccaacaactttacagatcccacctcctctcccagccatcaagcatctg
cccaggccagaaactctgcaccctaaccctgcaggcttacaggaaagcatttctgacgtc
accacctgccttgttgcctccaaggaaaatgttcaggttgcacagtcaaatctcaccaag
gaccgttctatgaggaaaagctttgacatgggaggagaaactctgttgtctgtctgtccc
atggtgccgaaggacttgggcaaatctttgtctgtgcaaaacctgatcaggtcgaccgag
gaactgaatatacaactttcagggagtgagtcaagtggctccagaggcagccaagatttt
taccccaaatggagggaatccaaattgtttataactgatgaagaggtgggtcccgaagag
acagagacagacacttttgatgccgcaccgcagcctgccagggaagctgcctttgcatca
gactctctaaggactggaaggtcacgatcatctcagagcatttgtaaggcaggagaaagt
acagatgccctcagcttgcctcatgtcaaactgaaataa

KEGG   Homo sapiens (human): 9132
Entry
9132              CDS       T01001                                 

Gene name
KCNQ4, DFNA2, DFNA2A, KV7.4
Definition
(RefSeq) potassium voltage-gated channel subfamily Q member 4
  KO
K04929  potassium voltage-gated channel KQT-like subfamily member 4
Organism
hsa  Homo sapiens (human)
Pathway
hsa04725  Cholinergic synapse
Disease
H00604  Deafness, autosomal dominant
H01705  Bilateral sudden sensorineural hearing loss
Drug target
Flindokalner: D04192
Retigabine: D09569
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09156 Nervous system
   04725 Cholinergic synapse
    9132 (KCNQ4)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    9132 (KCNQ4)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Potassium channel, voltage-gated (Kv)
   9132 (KCNQ4)
SSDB
Motif
Pfam: KCNQ_channel Ion_trans Ion_trans_2
Other DBs
NCBI-GeneID: 9132
NCBI-ProteinID: NP_004691
OMIM: 603537
HGNC: 6298
Ensembl: ENSG00000117013
Vega: OTTHUMG00000007730
Pharos: P56696(Tclin)
UniProt: P56696 B3KQH8
LinkDB
Structure
PDB: 

Position
1p34.2
AA seq 695 aa
MAEAPPRRLGLGPPPGDAPRAELVALTAVQSEQGEAGGGGSPRRLGLLGSPLPPGAPLPG
PGSGSGSACGQRSSAAHKRYRRLQNWVYNVLERPRGWAFVYHVFIFLLVFSCLVLSVLST
IQEHQELANECLLILEFVMIVVFGLEYIVRVWSAGCCCRYRGWQGRFRFARKPFCVIDFI
VFVASVAVIAAGTQGNIFATSALRSMRFLQILRMVRMDRRGGTWKLLGSVVYAHSKELIT
AWYIGFLVLIFASFLVYLAEKDANSDFSSYADSLWWGTITLTTIGYGDKTPHTWLGRVLA
AGFALLGISFFALPAGILGSGFALKVQEQHRQKHFEKRRMPAANLIQAAWRLYSTDMSRA
YLTATWYYYDSILPSFRELALLFEHVQRARNGGLRPLEVRRAPVPDGAPSRYPPVATCHR
PGSTSFCPGESSRMGIKDRIRMGSSQRRTGPSKQHLAPPTMPTSPSSEQVGEATSPTKVQ
KSWSFNDRTRFRASLRLKPRTSAEDAPSEEVAEEKSYQCELTVDDIMPAVKTVIRSIRIL
KFLVAKRKFKETLRPYDVKDVIEQYSAGHLDMLGRIKSLQTRVDQIVGRGPGDRKAREKG
DKGPSDAEVVDEISMMGRVVKVEKQVQSIEHKLDLLLGFYSRCLRSGTSASLGAVQVPLF
DPDITSDYHSPVDHEDISVSAQTLSISRSVSTNMD
NT seq 2088 nt   +upstreamnt  +downstreamnt
atggccgaggcccccccgcgccgcctcggcctgggtcccccgcccggggacgccccccgc
gcggagctagtggcgctcacggccgtgcagagcgaacagggcgaggcgggcgggggcggc
tccccgcgccgcctcggcctcctgggcagccccctgccgccgggcgcgcccctccctggg
ccgggctccggctcgggctccgcctgcggccagcgctcctcggccgcgcacaagcgctac
cgccgcctgcagaactgggtctacaacgtgctggagcggccccgcggctgggccttcgtc
taccacgtcttcatatttttgctggtcttcagctgcctggtgctgtctgtgctgtccact
atccaggagcaccaggaacttgccaacgagtgtctcctcatcttggaattcgtgatgatc
gtggttttcggcttggagtacatcgtccgggtctggtccgccggatgctgctgccgctac
cgaggatggcagggtcgcttccgctttgccagaaagcccttctgtgtcatcgacttcatc
gtgttcgtggcctcggtggccgtcatcgccgcgggtacccagggcaacatcttcgccacg
tccgcgctgcgcagcatgcgcttcctgcagatcctgcgcatggtgcgcatggaccgccgc
ggcggcacctggaagctgctgggctcagtggtctacgcgcatagcaaggagctgatcacc
gcctggtacatcgggttcctggtgctcatcttcgcctccttcctggtctacctggctgag
aaggacgccaactccgacttctcctcctacgccgactcgctctggtgggggacgattaca
ttgacaaccatcggctatggtgacaagacaccgcacacatggctgggcagggtcctggct
gctggcttcgccttactgggcatctctttctttgccctgcctgccggcatcctaggctcc
ggctttgccctgaaggtccaggagcagcaccggcagaagcacttcgagaagcggaggatg
ccggcagccaacctcatccaggctgcctggcgcctgtactccaccgatatgagccgggcc
tacctgacagccacctggtactactatgacagtatcctcccatccttcagagagctggcc
ctcttgtttgagcacgtgcaacgggcccgcaatgggggcctacggcccctggaggtgcgg
cgggcgccggtacccgacggagcaccctcccgttacccgcccgttgccacctgccaccgg
ccgggcagcacctccttctgccctggggaaagcagccggatgggcatcaaagaccgcatc
cgcatgggcagctcccagcggcggacgggtccttccaagcagcatctggcacctccaaca
atgcccacctccccaagcagcgagcaggtgggtgaggccaccagccccaccaaggtgcaa
aagagctggagcttcaatgaccgcacccgcttccgggcatctctgagactcaaaccccgc
acctctgctgaggatgccccctcagaggaagtagcagaggagaagagctaccagtgtgag
ctcacggtggacgacatcatgcctgctgtgaagacagtcatccgctccatcaggattctc
aagttcctggtggccaaaaggaaattcaaggagacactgcgaccgtacgacgtgaaggac
gtcattgagcagtactcagcaggccacctggacatgctgggccggatcaagagcctgcaa
actcgggtggaccaaattgtgggtcgggggcccggggacaggaaggcccgggagaagggc
gacaaggggccctccgacgcggaggtggtggatgaaatcagcatgatgggacgcgtggtc
aaggtggagaagcaggtgcagtccatcgagcacaagctggacctgctgttgggcttctat
tcgcgctgcctgcgctctggcacctcggccagcctgggcgccgtgcaagtgccgctgttc
gaccccgacatcacctccgactaccacagccctgtggaccacgaggacatctccgtctcc
gcacagacgctcagcatctcccgctcggtcagcaccaacatggactga

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