• Gene id: 9132

Gene Summary

• Gene Symbol: KCNQ4   Gene   UCSC   Ensembl
• Aliases: DFNA2, DFNA2A, KV7.4
• Gene name: potassium voltage-gated channel subfamily Q member 4
• Alternate names: potassium voltage-gated channel subfamily KQT member 4, potassium channel KQT-like 4, potassium channel subunit alpha KvLQT4, potassium channel, voltage gated KQT-like subfamily Q, member 4, potassium voltage-gated channel, KQT-like subfamily, member 4,
• Gene location: 1p34.2 (40783786: 40840456)     Exons: 15     NC_000001.11
• Gene summary(Entrez): The protein encoded by this gene forms a potassium channel that is thought to play a critical role in the regulation of neuronal excitability, particularly in sensory cells of the cochlea. The current generated by this channel is inhibited by M1 muscarini
• OMIM: 609493

Protein Summary

• Protein general information: P56696  
  • Name: Potassium voltage gated channel subfamily KQT member 4 (KQT like 4) (Potassium channel subunit alpha KvLQT4) (Voltage gated potassium channel subunit Kv7.4)
  • Length: 695  
  • Mass: 77101
  • Tissue specificity: Expressed in the outer, but not the inner, sensory hair cells of the cochlea. Slightly expressed in heart, brain and skeletal muscle.
• Sequence:

  MAEAPPRRLGLGPPPGDAPRAELVALTAVQSEQGEAGGGGSPRRLGLLGSPLPPGAPLPGPGSGSGSACGQRSSA
  AHKRYRRLQNWVYNVLERPRGWAFVYHVFIFLLVFSCLVLSVLSTIQEHQELANECLLILEFVMIVVFGLEYIVR
  VWSAGCCCRYRGWQGRFRFARKPFCVIDFIVFVASVAVIAAGTQGNIFATSALRSMRFLQILRMVRMDRRGGTWK
  LLGSVVYAHSKELITAWYIGFLVLIFASFLVYLAEKDANSDFSSYADSLWWGTITLTTIGYGDKTPHTWLGRVLA
  AGFALLGISFFALPAGILGSGFALKVQEQHRQKHFEKRRMPAANLIQAAWRLYSTDMSRAYLTATWYYYDSILPS
  FRELALLFEHVQRARNGGLRPLEVRRAPVPDGAPSRYPPVATCHRPGSTSFCPGESSRMGIKDRIRMGSSQRRTG
  PSKQHLAPPTMPTSPSSEQVGEATSPTKVQKSWSFNDRTRFRASLRLKPRTSAEDAPSEEVAEEKSYQCELTVDD
  IMPAVKTVIRSIRILKFLVAKRKFKETLRPYDVKDVIEQYSAGHLDMLGRIKSLQTRVDQIVGRGPGDRKAREKG
  DKGPSDAEVVDEISMMGRVVKVEKQVQSIEHKLDLLLGFYSRCLRSGTSASLGAVQVPLFDPDITSDYHSPVDHE
  DISVSAQTLSISRSVSTNMD

• Structural information:
  • Interpro: IPR005821  IPR003937  IPR013821  IPR015573  IPR028325  
  • PDB: 2OVC 4GOW 6N5W
  • PDBsum: 2OVC 4GOW 6N5W
  • STRING: ENSP00000262916
• Other Databases: GeneCards:  KCNQ4  Malacards:  KCNQ4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005516	calmodulin binding	IBA	molecular function
GO:0005251	delayed rectifier potassium channel activity	IBA	molecular function
GO:0071805	potassium ion transmembrane transport	IBA	biological process
GO:0016021	integral component of membrane	IBA	cellular component
GO:0008076	voltage-gated potassium channel complex	IBA	cellular component
GO:0005249	voltage-gated potassium channel activity	IBA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005216	ion channel activity	IEA	molecular function
GO:0005249	voltage-gated potassium channel activity	IEA	molecular function
GO:0006811	ion transport	IEA	biological process
GO:0006813	potassium ion transport	IEA	biological process
GO:0008076	voltage-gated potassium channel complex	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:0005244	voltage-gated ion channel activity	IEA	molecular function
GO:0005267	potassium channel activity	IEA	molecular function
GO:0007605	sensory perception of sound	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0071805	potassium ion transmembrane transport	IEA	biological process
GO:0034765	regulation of ion transmembrane transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0006813	potassium ion transport	IEA	biological process
GO:0006811	ion transport	IEA	biological process
GO:0005267	potassium channel activity	TAS	molecular function
GO:0006813	potassium ion transport	TAS	biological process
GO:0007605	sensory perception of sound	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0042472	inner ear morphogenesis	IEA	biological process
GO:0005249	voltage-gated potassium channel activity	IEA	molecular function
GO:0006813	potassium ion transport	IEA	biological process
GO:0007605	sensory perception of sound	IEA	biological process
GO:0009925	basal plasma membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04725	Cholinergic synapse

Diseases

Associated diseases	References
Deafness, autosomal dominant	KEGG:H00604
Bilateral sudden sensorineural hearing loss	KEGG:H01705
Deafness, autosomal dominant	KEGG:H00604
Bilateral sudden sensorineural hearing loss	KEGG:H01705
Sensorineural hearing loss	PMID:10369879
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq