TCDB is operated by the Saier Lab Bioinformatics Group
« See all members of the family


1.A.1.15.4
6 TMS cell volume sensitive, voltage-gated K+ channel, KCNQ4 or Kv7.4 (mutations cause DFNA2, an autosomal dominant form of progressive hearing loss) (forms homomers or heteromers with KCNQ3) (localized to the basal membrane of cochlear outer hair cells and in several nuclei of the central auditory pathway in the brainstem). Four splice variants form heterotetramers; each subunit has different voltage and calmodulin-sensitivities (Xu et al., 2007).  Autosomal dominant mutant forms leading to progressive hearing loss (DFNA2) have been characterized (Kim et al. 2011). Phosphatidylinositol 4,5-bisphosphate (PIP2) and polyunsaturated fatty acids (PUFAs) impact ion channel function (Taylor and Sanders 2016). This channel may be present in mitochondria (Parrasia et al. 2019). Polyunsaturated fatty acids are modulators of KV7 channels (Larsson et al. 2020). The pathogenicity classification of KCNQ4 missense variants in clinical genetic testing has been described (Zheng et al. 2022). KCNQ4 potassium channel subunit deletion leads to exaggerated acoustic startle reflex in mice (Maamrah et al. 2023).

Accession Number:P56696
Protein Name:KCNQ4
Length:695
Molecular Weight:77101.00
Species:Homo sapiens (Human) [9606]
Number of TMSs:6
Location1 / Topology2 / Orientation3: Basal cell membrane1 / Multi-pass membrane protein2
Substrate potassium(1+)

Cross database links:

RefSeq: NP_004691.2    NP_751895.1   
Entrez Gene ID: 9132   
Pfam: PF00520    PF03520   
OMIM: 600101  phenotype
603537  gene
KEGG: hsa:9132   

Gene Ontology

GO:0009925 C:basal plasma membrane
GO:0008076 C:voltage-gated potassium channel complex
GO:0006813 P:potassium ion transport
GO:0007605 P:sensory perception of sound
GO:0055085 P:transmembrane transport

References (7)

[1] “KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness.”  Kubisch C.et.al.   10025409
[2] “The DNA sequence and biological annotation of human chromosome 1.”  Gregory S.G.et.al.   16710414
[3] “Inhibition of KCNQ1-4 potassium channels expressed in mammalian cells via M1 muscarinic acetylcholine receptors.”  Selyanko A.A.et.al.   10713961
[4] “KCNQ4 channels expressed in mammalian cells: functional characteristics and pharmacology.”  Soegaard R.et.al.   11245603
[5] “Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families.”  Coucke P.J.et.al.   10369879
[6] “Novel mutation in the KCNQ4 gene in a large kindred with dominant progressive hearing loss.”  Talebizadeh Z.et.al.   10571947
[7] “Mutations in the KCNQ4 K+ channel gene, responsible for autosomal dominant hearing loss, cluster in the channel pore region.”  Van Hauwe P.et.al.   10925378
Structure:
2OVC   4GOW   6B8L   6B8M   6B8N   6B8P   6N5W     

External Searches:

Analyze:

Predict TMSs (Predict number of transmembrane segments)
Window Size: Angle:  
FASTA formatted sequence
1:	MAEAPPRRLG LGPPPGDAPR AELVALTAVQ SEQGEAGGGG SPRRLGLLGS PLPPGAPLPG 
61:	PGSGSGSACG QRSSAAHKRY RRLQNWVYNV LERPRGWAFV YHVFIFLLVF SCLVLSVLST 
121:	IQEHQELANE CLLILEFVMI VVFGLEYIVR VWSAGCCCRY RGWQGRFRFA RKPFCVIDFI 
181:	VFVASVAVIA AGTQGNIFAT SALRSMRFLQ ILRMVRMDRR GGTWKLLGSV VYAHSKELIT 
241:	AWYIGFLVLI FASFLVYLAE KDANSDFSSY ADSLWWGTIT LTTIGYGDKT PHTWLGRVLA 
301:	AGFALLGISF FALPAGILGS GFALKVQEQH RQKHFEKRRM PAANLIQAAW RLYSTDMSRA 
361:	YLTATWYYYD SILPSFRELA LLFEHVQRAR NGGLRPLEVR RAPVPDGAPS RYPPVATCHR 
421:	PGSTSFCPGE SSRMGIKDRI RMGSSQRRTG PSKQHLAPPT MPTSPSSEQV GEATSPTKVQ 
481:	KSWSFNDRTR FRASLRLKPR TSAEDAPSEE VAEEKSYQCE LTVDDIMPAV KTVIRSIRIL 
541:	KFLVAKRKFK ETLRPYDVKD VIEQYSAGHL DMLGRIKSLQ TRVDQIVGRG PGDRKAREKG 
601:	DKGPSDAEVV DEISMMGRVV KVEKQVQSIE HKLDLLLGFY SRCLRSGTSA SLGAVQVPLF 
661:	DPDITSDYHS PVDHEDISVS AQTLSISRSV STNMD