Homo sapiens (human): 9132
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Entry
9132 CDS
T01001
Symbol
KCNQ4, DFNA2, DFNA2A, KV7.4
Name
(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)
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Gene cluster
GFIT
Motif
Pfam:
KCNQ_channel
Ion_trans
Ion_trans_2
Motif
Other DBs
NCBI-GeneID:
9132
NCBI-ProteinID:
NP_004691
OMIM:
603537
HGNC:
6298
Ensembl:
ENSG00000117013
UniProt:
P56696
B3KQH8
Structure
PDB
PDBj
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All DBs
Position
1:40783787..40840452
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AA seq
695 aa
AA seq
DB search
MAEAPPRRLGLGPPPGDAPRAELVALTAVQSEQGEAGGGGSPRRLGLLGSPLPPGAPLPG
PGSGSGSACGQRSSAAHKRYRRLQNWVYNVLERPRGWAFVYHVFIFLLVFSCLVLSVLST
IQEHQELANECLLILEFVMIVVFGLEYIVRVWSAGCCCRYRGWQGRFRFARKPFCVIDFI
VFVASVAVIAAGTQGNIFATSALRSMRFLQILRMVRMDRRGGTWKLLGSVVYAHSKELIT
AWYIGFLVLIFASFLVYLAEKDANSDFSSYADSLWWGTITLTTIGYGDKTPHTWLGRVLA
AGFALLGISFFALPAGILGSGFALKVQEQHRQKHFEKRRMPAANLIQAAWRLYSTDMSRA
YLTATWYYYDSILPSFRELALLFEHVQRARNGGLRPLEVRRAPVPDGAPSRYPPVATCHR
PGSTSFCPGESSRMGIKDRIRMGSSQRRTGPSKQHLAPPTMPTSPSSEQVGEATSPTKVQ
KSWSFNDRTRFRASLRLKPRTSAEDAPSEEVAEEKSYQCELTVDDIMPAVKTVIRSIRIL
KFLVAKRKFKETLRPYDVKDVIEQYSAGHLDMLGRIKSLQTRVDQIVGRGPGDRKAREKG
DKGPSDAEVVDEISMMGRVVKVEKQVQSIEHKLDLLLGFYSRCLRSGTSASLGAVQVPLF
DPDITSDYHSPVDHEDISVSAQTLSISRSVSTNMD
NT seq
2088 nt
NT seq
+upstream
nt +downstream
nt
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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