KEGG   Homo sapiens (human): 10008
Entry
10008             CDS       T01001                                 

Gene name
KCNE3, BRGDA6, HOKPP, HYPP, MiRP2
Definition
(RefSeq) potassium voltage-gated channel subfamily E regulatory subunit 3
  KO
K04897  potassium voltage-gated channel Isk-related subfamily E member 3
Organism
hsa  Homo sapiens (human)
Pathway
hsa04974  Protein digestion and absorption
Disease
H00215  Periodic paralysis
H00728  Brugada syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09154 Digestive system
   04974 Protein digestion and absorption
    10008 (KCNE3)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    10008 (KCNE3)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Potassium channel, voltage-gated (Kv)
   10008 (KCNE3)
SSDB
Motif
Pfam: ISK_Channel
Other DBs
NCBI-GeneID: 10008
NCBI-ProteinID: NP_005463
OMIM: 604433
HGNC: 6243
Ensembl: ENSG00000175538
Vega: OTTHUMG00000165641
Pharos: Q9Y6H6(Tbio)
UniProt: Q9Y6H6 Q6IAE6
Structure
PDB: 
2NDJ

Position
11q13.4
AA seq 103 aa
METTNGTETWYESLHAVLKALNATLHSNLLCRPGPGLGPDNQTEERRASLPGRDDNSYMY
ILFVMFLFAVTVGSLILGYTRSRKVDKRSDPYHVYIKNRVSMI
NT seq 312 nt   +upstreamnt  +downstreamnt
atggagactaccaatggaacggagacctggtatgagagcctgcatgccgtgctgaaggct
ctaaatgccactcttcacagcaatttgctctgccggccagggccagggctggggccagac
aaccagactgaagagaggcgggccagcctacctggccgtgatgacaactcctacatgtac
attctctttgtcatgtttctatttgctgtaactgtgggcagcctcatcctgggatacacc
cgctcccgcaaagtggacaagcgtagtgacccctatcatgtgtatatcaagaaccgtgtg
tctatgatctaa

KEGG   Homo sapiens (human): 3769
Entry
3769              CDS       T01001                                 

Gene name
KCNJ13, KIR1.4, KIR7.1, LCA16, SVD
Definition
(RefSeq) potassium inwardly rectifying channel subfamily J member 13
  KO
K05006  potassium inwardly-rectifying channel subfamily J member 13
Organism
hsa  Homo sapiens (human)
Pathway
hsa04974  Protein digestion and absorption
Disease
H00805  Vitreoretinal degeneration
H00837  Leber congenital amaurosis
H02077  Snowflake vitreoretinal degeneration
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09154 Digestive system
   04974 Protein digestion and absorption
    3769 (KCNJ13)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    3769 (KCNJ13)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Potassium channel, inwardly-rectifying (Kir)
   3769 (KCNJ13)
SSDB
Motif
Pfam: IRK IRK_C Ion_trans_2 DUF3324
Other DBs
NCBI-GeneID: 3769
NCBI-ProteinID: NP_002233
OMIM: 603208
HGNC: 6259
Ensembl: ENSG00000115474
Vega: OTTHUMG00000153292
Pharos: O60928(Tbio)
UniProt: O60928
Position
2q37.1
AA seq 360 aa
MDSSNCKVIAPLLSQRYRRMVTKDGHSTLQMDGAQRGLAYLRDAWGILMDMRWRWMMLVF
SASFVVHWLVFAVLWYVLAEMNGDLELDHDAPPENHTICVKYITSFTAAFSFSLETQLTI
GYGTMFPSGDCPSAIALLAIQMLLGLMLEAFITGAFVAKIARPKNRAFSIRFTDTAVVAH
MDGKPNLIFQVANTRPSPLTSVRVSAVLYQERENGKLYQTSVDFHLDGISSDECPFFIFP
LTYYHSITPSSPLATLLQHENPSHFELVVFLSAMQEGTGEICQRRTSYLPSEIMLHHCFA
SLLTRGSKGEYQIKMENFDKTVPEFPTPLVSKSPNRTDLDIHINGQSIDNFQISETGLTE
NT seq 1083 nt   +upstreamnt  +downstreamnt
atggacagcagtaattgcaaagttattgctcctctcctaagtcaaagataccggaggatg
gtcaccaaggatggccacagcacacttcaaatggatggcgctcaaagaggtcttgcatat
cttcgagatgcttggggaatcctaatggacatgcgctggcgttggatgatgttggtcttt
tctgcttcttttgttgtccactggcttgtctttgcagtgctctggtatgttctggctgag
atgaatggtgatctggaactagatcatgatgccccacctgaaaaccacactatctgtgtc
aagtatatcaccagtttcacagctgcattctccttctccctggagacacaactcacaatt
ggttatggtaccatgttccccagtggtgactgtccaagtgcaatcgccttacttgccata
caaatgctcctaggcctcatgctagaggcttttatcacaggtgcttttgtggcgaagatt
gcccggccaaaaaatcgagctttttcaattcgctttactgacacagcagtagtagctcac
atggatggcaaacctaatcttatcttccaagtggccaacacccgacctagccctctaacc
agtgtccgggtctcagctgtactctatcaggaaagagaaaatggcaaactctaccagacc
agtgtggatttccaccttgatggcatcagttctgacgaatgtccattcttcatctttcca
ctaacgtactatcactccattacaccatcaagtcctctggctactctgctccagcatgaa
aatccttctcactttgaattagttgtattcctttcagcaatgcaggagggcactggagaa
atatgccaaaggaggacatcctacctaccgtctgaaatcatgttacatcactgttttgca
tctctgttgacccgaggttccaaaggtgaatatcaaatcaagatggagaattttgacaag
actgtccctgaatttccaactcctctggtttctaaaagcccaaacaggactgacctggat
atccacatcaatggacaaagcattgacaattttcagatctctgaaacaggactgacagaa
taa

KEGG   Homo sapiens (human): 3783
Entry
3783              CDS       T01001                                 

Gene name
KCNN4, DHS2, IK, IK1, IKCA1, KCA4, KCa3.1, SK4, hIKCa1, hKCa4, hSK4
Definition
(RefSeq) potassium calcium-activated channel subfamily N member 4
  KO
K04945  potassium intermediate/small conductance calcium-activated channel subfamily N member 4
Organism
hsa  Homo sapiens (human)
Pathway
hsa04911  Insulin secretion
hsa04929  GnRH secretion
hsa04970  Salivary secretion
hsa04974  Protein digestion and absorption
Disease
H00232  Hereditary stomatocytosis
H01978  Dehydrated hereditary stomatocytosis
Drug target
Senicapoc: D06640
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09152 Endocrine system
   04911 Insulin secretion
    3783 (KCNN4)
   04929 GnRH secretion
    3783 (KCNN4)
  09154 Digestive system
   04970 Salivary secretion
    3783 (KCNN4)
   04974 Protein digestion and absorption
    3783 (KCNN4)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    3783 (KCNN4)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Potassium channel, calcium- and sodium-activated (KCa/KNa)
   3783 (KCNN4)
SSDB
Motif
Pfam: SK_channel CaMBD Ion_trans_2 Ion_trans
Other DBs
NCBI-GeneID: 3783
NCBI-ProteinID: NP_002241
OMIM: 602754
HGNC: 6293
Ensembl: ENSG00000104783
Vega: OTTHUMG00000182779
Pharos: O15554(Tchem)
UniProt: O15554
Structure
PDB: 
6D42 6CNM 6CNN 6CNO

Position
19q13.31
AA seq 427 aa
MGGDLVLGLGALRRRKRLLEQEKSLAGWALVLAGTGIGLMVLHAEMLWFGGCSWALYLFL
VKCTISISTFLLLCLIVAFHAKEVQLFMTDNGLRDWRVALTGRQAAQIVLELVVCGLHPA
PVRGPPCVQDLGAPLTSPQPWPGFLGQGEALLSLAMLLRLYLVPRAVLLRSGVLLNASYR
SIGALNQVRFRHWFVAKLYMNTHPGRLLLGLTLGLWLTTAWVLSVAERQAVNATGHLSDT
LWLIPITFLTIGYGDVVPGTMWGKIVCLCTGVMGVCCTALLVAVVARKLEFNKAEKHVHN
FMMDIQYTKEMKESAARVLQEAWMFYKHTRRKESHAARRHQRKLLAAINAFRQVRLKHRK
LREQVNSMVDISKMHMILYDLQQNLSSSHRALEKQIDTLAGKLDALTELLSTALGPRQLP
EPSQQSK
NT seq 1284 nt   +upstreamnt  +downstreamnt
atgggcggggatctggtgcttggcctgggggccttgagacgccgaaagcgcttgctggag
caggagaagtctctggccggctgggcactggtgctggcaggaactggcattggactcatg
gtgctgcatgcagagatgctgtggttcggggggtgctcgtgggcgctctacctgttcctg
gttaaatgcacgatcagcatttccaccttcttactcctctgcctcatcgtggcctttcat
gccaaagaggtccagctgttcatgaccgacaacgggctgcgggactggcgcgtggcgctg
accgggcggcaggcggcgcagatcgtgctggagctggtggtgtgtgggctgcacccggcg
cccgtgcggggcccgccgtgcgtgcaggatttaggggcgccgctgacctccccgcagccc
tggccgggattcctgggccaaggggaagcgctgctgtccctggccatgctgctgcgtctc
tacctggtgccccgcgccgtgctcctgcgcagcggcgtcctgctcaacgcttcctaccgc
agcatcggcgctctcaatcaagtccgcttccgccactggttcgtggccaagctttacatg
aacacgcaccctggccgcctgctgctcggcctcacgcttggcctctggctgaccaccgcc
tgggtgctgtccgtggccgagaggcaggctgttaatgccactgggcacctttcagacaca
ctttggctgatccccatcacattcctgaccatcggctatggtgacgtggtgccgggcacc
atgtggggcaagatcgtctgcctgtgcactggagtcatgggtgtctgctgcacagccctg
ctggtggccgtggtggcccggaagctggagtttaacaaggcagagaagcacgtgcacaac
ttcatgatggatatccagtataccaaagagatgaaggagtccgctgcccgagtgctacaa
gaagcctggatgttctacaaacatactcgcaggaaggagtctcatgctgcccgcaggcat
cagcgcaagctgctggccgccatcaacgcgttccgccaggtgcggctgaaacaccggaag
ctccgggaacaagtgaactccatggtggacatctccaagatgcacatgatcctgtatgac
ctgcagcagaatctgagcagctcacaccgggccctggagaaacagattgacacgctggcg
gggaagctggatgccctgactgagctgcttagcactgccctggggccgaggcagcttcca
gaacccagccagcagtccaagtag

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
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): 8645
Entry
8645              CDS       T01001                                 

Gene name
KCNK5, K2p5.1, KCNK5b, TASK-2, TASK2
Definition
(RefSeq) potassium two pore domain channel subfamily K member 5
  KO
K04916  potassium channel subfamily K member 5
Organism
hsa  Homo sapiens (human)
Pathway
hsa04742  Taste transduction
hsa04974  Protein digestion and absorption
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09154 Digestive system
   04974 Protein digestion and absorption
    8645 (KCNK5)
  09157 Sensory system
   04742 Taste transduction
    8645 (KCNK5)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    8645 (KCNK5)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Potassium channel, two-pore domain (K2P)
   8645 (KCNK5)
SSDB
Motif
Pfam: Ion_trans_2 Ion_trans
Other DBs
NCBI-GeneID: 8645
NCBI-ProteinID: NP_003731
OMIM: 603493
HGNC: 6280
Ensembl: ENSG00000164626
Vega: OTTHUMG00000014642
Pharos: O95279(Tbio)
UniProt: O95279 A0A024RD32
Position
6p21.2
AA seq 499 aa
MVDRGPLLTSAIIFYLAIGAAIFEVLEEPHWKEAKKNYYTQKLHLLKEFPCLGQEGLDKI
LEVVSDAAGQGVAITGNQTFNNWNWPNAMIFAATVITTIGYGNVAPKTPAGRLFCVFYGL
FGVPLCLTWISALGKFFGGRAKRLGQFLTKRGVSLRKAQITCTVIFIVWGVLVHLVIPPF
VFMVTEGWNYIEGLYYSFITISTIGFGDFVAGVNPSANYHALYRYFVELWIYLGLAWLSL
FVNWKVSMFVEVHKAIKKRRRRRKESFESSPHSRKALQVKGSTASKDVNIFSFLSKKEET
YNDLIKQIGKKAMKTSGGGETGPGPGLGPQGGGLPALPPSLVPLVVYSKNRVPTLEEVSQ
TLRSKGHVSRSPDEEAVARAPEDSSPAPEVFMNQLDRISEECEPWDAQDYHPLIFQDASI
TFVNTEAGLSDEETSKSSLEDNLAGEESPQQGAEAKAPLNMGEFPSSSESTFTSTESELS
VPYEQLMNEYNKANSPKGT
NT seq 1500 nt   +upstreamnt  +downstreamnt
atggtggaccggggccctctgctcacctcggccatcatcttctacctggccatcggggcg
gcgatcttcgaagtgctggaggagccacactggaaggaggccaagaaaaactactacaca
cagaagctgcatctgctcaaggagttcccgtgcctgggtcaggagggcctggacaagatc
ctagaggtggtatctgatgctgcaggacagggtgtggccatcacagggaaccagaccttc
aacaactggaactggcccaatgcaatgatttttgcagcgaccgtcattaccaccattgga
tatggcaatgtggctcccaagacccccgccggtcgcctcttctgtgttttctatggtctc
ttcggggtgccgctctgcctgacgtggatcagtgccctgggcaagttcttcgggggacgt
gccaagagactagggcagttccttaccaagagaggtgtgagtctgcggaaggcgcagatc
acgtgcacagtcatcttcatcgtgtggggcgtcctagtccacctggtgatcccacccttc
gtattcatggtgactgaggggtggaactacatcgagggcctctactactccttcatcacc
atctccaccatcggcttcggtgactttgtggccggtgtgaaccccagcgccaactaccac
gccctgtaccgctacttcgtggagctctggatctacttggggctggcctggctgtccctt
tttgtcaactggaaggtgagcatgtttgtggaagtccacaaagccattaagaagcggcgg
cggcgacggaaggagtcctttgagagctccccacactcccggaaggccctgcaggtgaag
gggagcacagcctccaaggacgtcaacatcttcagctttctttccaagaaggaagagacc
tacaacgacctcatcaagcagatcgggaagaaggccatgaagacaagcgggggtggggag
acgggcccgggcccagggctggggcctcaaggcggtgggctcccagcactgcccccttcc
ctggtgcccctggtagtctactccaagaaccgggtgcccaccttggaagaggtgtcacag
acactgaggagcaaaggccacgtatcaaggtccccagatgaggaggctgtggcacgggcc
cctgaagacagctcccctgcccccgaggtgttcatgaaccagctggaccgcatcagcgag
gaatgcgagccatgggacgcccaggactaccacccactcatcttccaggacgccagcatc
accttcgtgaacacggaggctggcctctcagacgaggagacctccaagtcctcgctagag
gacaacttggcaggggaggagagcccccagcagggggctgaagccaaggcgcccctgaac
atgggcgagttcccctcctcctccgagtccaccttcaccagcactgagtctgagctctct
gtgccttacgaacagctgatgaatgagtacaacaaggctaacagccccaagggcacatga

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