• Gene id: 3785

Gene Summary

• Gene Symbol: KCNQ2   Gene   UCSC   Ensembl
• Aliases: BFNC, EBN, EBN1, ENB1, HNSPC, KCNA11, KV7.2
• Gene name: potassium voltage-gated channel subfamily Q member 2
• Alternate names: potassium voltage-gated channel subfamily KQT member 2, neuroblastoma-specific potassium channel subunit alpha KvLQT2, potassium channel, voltage gated KQT-like subfamily Q, member 2, voltage-gated potassium channel subunit Kv7.2,
• Gene location: 20q13.33 (63472654: 63400207)     Exons: 19     NC_000020.11
• Gene summary(Entrez): The M channel is a slowly activating and deactivating potassium channel that plays a critical role in the regulation of neuronal excitability. The M channel is formed by the association of the protein encoded by this gene and a related protein encoded by
• OMIM: 602235

Protein Summary

• Protein general information: O43526  
  • Name: Potassium voltage gated channel subfamily KQT member 2 (KQT like 2) (Neuroblastoma specific potassium channel subunit alpha KvLQT2) (Voltage gated potassium channel subunit Kv7.2)
  • Length: 872  
  • Mass: 95848
  • Tissue specificity: In adult and fetal brain. Highly expressed in areas containing neuronal cell bodies, low in spinal chord and corpus callosum. Isoform 2 is preferentially expressed in differentiated neurons. Isoform 6 is prominent in fetal brain, undif
• Sequence:

  MVQKSRNGGVYPGPSGEKKLKVGFVGLDPGAPDSTRDGALLIAGSEAPKRGSILSKPRAGGAGAGKPPKRNAFYR
  KLQNFLYNVLERPRGWAFIYHAYVFLLVFSCLVLSVFSTIKEYEKSSEGALYILEIVTIVVFGVEYFVRIWAAGC
  CCRYRGWRGRLKFARKPFCVIDIMVLIASIAVLAAGSQGNVFATSALRSLRFLQILRMIRMDRRGGTWKLLGSVV
  YAHSKELVTAWYIGFLCLILASFLVYLAEKGENDHFDTYADALWWGLITLTTIGYGDKYPQTWNGRLLAATFTLI
  GVSFFALPAGILGSGFALKVQEQHRQKHFEKRRNPAAGLIQSAWRFYATNLSRTDLHSTWQYYERTVTVPMYSSQ
  TQTYGASRLIPPLNQLELLRNLKSKSGLAFRKDPPPEPSPSKGSPCRGPLCGCCPGRSSQKVSLKDRVFSSPRGV
  AAKGKGSPQAQTVRRSPSADQSLEDSPSKVPKSWSFGDRSRARQAFRIKGAASRQNSEEASLPGEDIVDDKSCPC
  EFVTEDLTPGLKVSIRAVCVMRFLVSKRKFKESLRPYDVMDVIEQYSAGHLDMLSRIKSLQSRVDQIVGRGPAIT
  DKDRTKGPAEAELPEDPSMMGRLGKVEKQVLSMEKKLDFLVNIYMQRMGIPPTETEAYFGAKEPEPAPPYHSPED
  SREHVDRHGCIVKIVRSSSSTGQKNFSAPPAAPPVQCPPSTSWQPQSHPRQGHGTSPVGDHGSLVRIPPPPAHER
  SLSAYGGGNRASMEFLRQEDTPGCRPPEGNLRDSDTSISIPSVDHEELERSFSGFSISQSKENLDALNSCYAAVA
  PCAKVRPYIAEGESDTDSDLCTPCGPPPRSATGEGPFGDVGWAGPRK

• Structural information:
  • Interpro: IPR020969  IPR005821  IPR003937  IPR003947  IPR013821   IPR028325  
  • PDB: 5J03 6FEG 6FEH
  • PDBsum: 5J03 6FEG 6FEH
  • STRING: ENSP00000352035
• Other Databases: GeneCards:  KCNQ2  Malacards:  KCNQ2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0005251	delayed rectifier potassium channel activity	IBA	molecular function
GO:0005516	calmodulin binding	IBA	molecular function
GO:0005249	voltage-gated potassium channel activity	IBA	molecular function
GO:0008076	voltage-gated potassium channel complex	IBA	cellular component
GO:0016021	integral component of membrane	IBA	cellular component
GO:0043194	axon initial segment	IBA	cellular component
GO:0071805	potassium ion transmembrane transport	IBA	biological process
GO:0005516	calmodulin binding	IDA	molecular function
GO:0008076	voltage-gated potassium channel complex	IDA	cellular component
GO:0071805	potassium ion transmembrane transport	IDA	biological process
GO:0005249	voltage-gated potassium channel activity	IDA	molecular function
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0008076	voltage-gated potassium channel complex	IDA	cellular component
GO:0071805	potassium ion transmembrane transport	IDA	biological process
GO:0005249	voltage-gated potassium channel activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005267	potassium channel activity	IEA	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:0071805	potassium ion transmembrane transport	IEA	biological process
GO:0006813	potassium ion transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0034765	regulation of ion transmembrane transport	IEA	biological process
GO:0007268	chemical synaptic transmission	TAS	biological process
GO:0007399	nervous system development	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0030506	ankyrin binding	IPI	molecular function
GO:0033268	node of Ranvier	ISS	cellular component
GO:0005886	plasma membrane	ISS	cellular component
GO:0043194	axon initial segment	ISS	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04725	Cholinergic synapse

Diseases

Associated diseases	References
Early infantile epileptic encephalopathy	KEGG:H00606
Benign familial neonatal seizure	KEGG:H00806
Early infantile epileptic encephalopathy	KEGG:H00606
Benign familial neonatal seizure	KEGG:H00806
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq