KEGG   Homo sapiens (human): 9132Help
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)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: KCNQ_channel Ion_trans Ion_trans_2 PKD_channel
Motif
Other DBs
NCBI-GeneID: 9132
NCBI-ProteinID: NP_004691
OMIM: 603537
HGNC: 6298
Ensembl: ENSG00000117013
Vega: OTTHUMG00000007730
Pharos: P56696(Tclin)
UniProt: P56696 B3KQH8
Structure
PDB: 

Position
1p34.2
AA seq 695 aa AA seqDB search
MAEAPPRRLGLGPPPGDAPRAELVALTAVQSEQGEAGGGGSPRRLGLLGSPLPPGAPLPG
PGSGSGSACGQRSSAAHKRYRRLQNWVYNVLERPRGWAFVYHVFIFLLVFSCLVLSVLST
IQEHQELANECLLILEFVMIVVFGLEYIVRVWSAGCCCRYRGWQGRFRFARKPFCVIDFI
VFVASVAVIAAGTQGNIFATSALRSMRFLQILRMVRMDRRGGTWKLLGSVVYAHSKELIT
AWYIGFLVLIFASFLVYLAEKDANSDFSSYADSLWWGTITLTTIGYGDKTPHTWLGRVLA
AGFALLGISFFALPAGILGSGFALKVQEQHRQKHFEKRRMPAANLIQAAWRLYSTDMSRA
YLTATWYYYDSILPSFRELALLFEHVQRARNGGLRPLEVRRAPVPDGAPSRYPPVATCHR
PGSTSFCPGESSRMGIKDRIRMGSSQRRTGPSKQHLAPPTMPTSPSSEQVGEATSPTKVQ
KSWSFNDRTRFRASLRLKPRTSAEDAPSEEVAEEKSYQCELTVDDIMPAVKTVIRSIRIL
KFLVAKRKFKETLRPYDVKDVIEQYSAGHLDMLGRIKSLQTRVDQIVGRGPGDRKAREKG
DKGPSDAEVVDEISMMGRVVKVEKQVQSIEHKLDLLLGFYSRCLRSGTSASLGAVQVPLF
DPDITSDYHSPVDHEDISVSAQTLSISRSVSTNMD
NT seq 2088 nt NT seq  +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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