KEGG   Homo sapiens (human): 9132
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)
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
UniProt: P56696 B3KQH8
Structure
Position
1:40783787..40840452
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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Ontology (2)   
   KEGG BRITE (2)   
Pathway (1)   
   KEGG PATHWAY (1)   
Disease (4)   
   KEGG DISEASE (2)   
   OMIM (2)   
Drug (2)   
   KEGG DRUG (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (9)   
   KEGG ORTHOLOGY (1)   
   RefGene (3)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   OC (1)   
Protein sequence (9)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (6)   
DNA sequence (16)   
   RefSeq(nuc) (8)   
   GenBank (4)   
   EMBL (4)   
3D Structure (9)   
   PDB (9)   
Protein domain (3)   
   Pfam (3)   
All databases (56)   

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