KEGG T01001: 9132

Homo sapiens (human): 9132

Entry

9132 CDS T01001

Gene name

KCNQ4, DFNA2, DFNA2A, KV7.4

Definition

potassium voltage-gated channel, KQT-like subfamily, member 4

Orthology

K04929

potassium voltage-gated channel KQT-like subfamily member 4

Organism

hsa Homo sapiens (human)

Pathway

hsa04725

Cholinergic synapse

Disease

H00604

Deafness, autosomal dominant

Drug target

Retigabine:

D09569

Linopirdine:

D04741

Class

Organismal Systems; Nervous system; Cholinergic synapse [PATH:hsa04725]

SSDB

Motif

Pfam:

KCNQ_channel Ion_trans Ion_trans_2 PKD_channel

Other DBs

NCBI-GI:

NCBI-GeneID:

OMIM:

HGNC:

HPRD:

Ensembl:

Vega:

UniProt:

Structure

PDB:

2OVC 4GOW

Position

1p34

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

All links

Ontology (3)   
   KEGG BRITE (3)   
Pathway (1)   
   KEGG PATHWAY (1)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Drug (2)   
   KEGG DRUG (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (11)   
   KEGG ORTHOLOGY (1)   
   NCBI-Gene (1)   
   NCBI-GI (3)   
   UniGene (1)   
   HGNC (1)   
   HPRD (1)   
   ENSEMBL-HSA (1)   
   OC (1)   
   VEGA (1)   
Protein sequence (5)   
   UniProt (2)   
   RefSeq(pep) (3)   
DNA sequence (11)   
   RefSeq(nuc) (3)   
   GenBank (4)   
   EMBL (4)   
3D Structure (2)   
   PDB (2)   
Protein domain (4)   
   Pfam (4)   
All databases (43)   

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