• Gene id: 3786

Gene Summary

• Gene Symbol: KCNQ3   Gene   UCSC   Ensembl
• Aliases: BFNC2, EBN2, KV7.3
• Gene name: potassium voltage-gated channel subfamily Q member 3
• Alternate names: potassium voltage-gated channel subfamily KQT member 3, potassium channel subunit alpha KvLQT3, potassium channel, voltage gated KQT-like subfamily Q, member 3, potassium channel, voltage-gated, subfamily Q, member 3, potassium voltage-gated channel, KQT-like,
• Gene location: 8q24.22 (132481094: 132120857)     Exons: 18     NC_000008.11
• Gene summary(Entrez): This gene encodes a protein that functions in the regulation of neuronal excitability. The encoded protein forms an M-channel by associating with the products of the related KCNQ2 or KCNQ5 genes, which both encode integral membrane proteins. M-channel cur
• OMIM: 602232

Protein Summary

• Protein general information: O43525  
  • Name: Potassium voltage gated channel subfamily KQT member 3 (KQT like 3) (Potassium channel subunit alpha KvLQT3) (Voltage gated potassium channel subunit Kv7.3)
  • Length: 872  
  • Mass: 96742
  • Tissue specificity: Predominantly expressed in brain.
• Sequence:

  MGLKARRAAGAAGGGGDGGGGGGGAANPAGGDAAAAGDEERKVGLAPGDVEQVTLALGAGADKDGTLLLEGGGRD
  EGQRRTPQGIGLLAKTPLSRPVKRNNAKYRRIQTLIYDALERPRGWALLYHALVFLIVLGCLILAVLTTFKEYET
  VSGDWLLLLETFAIFIFGAEFALRIWAAGCCCRYKGWRGRLKFARKPLCMLDIFVLIASVPVVAVGNQGNVLATS
  LRSLRFLQILRMLRMDRRGGTWKLLGSAICAHSKELITAWYIGFLTLILSSFLVYLVEKDVPEVDAQGEEMKEEF
  ETYADALWWGLITLATIGYGDKTPKTWEGRLIAATFSLIGVSFFALPAGILGSGLALKVQEQHRQKHFEKRRKPA
  AELIQAAWRYYATNPNRIDLVATWRFYESVVSFPFFRKEQLEAASSQKLGLLDRVRLSNPRGSNTKGKLFTPLNV
  DAIEESPSKEPKPVGLNNKERFRTAFRMKAYAFWQSSEDAGTGDPMAEDRGYGNDFPIEDMIPTLKAAIRAVRIL
  QFRLYKKKFKETLRPYDVKDVIEQYSAGHLDMLSRIKYLQTRIDMIFTPGPPSTPKHKKSQKGSAFTFPSQQSPR
  NEPYVARPSTSEIEDQSMMGKFVKVERQVQDMGKKLDFLVDMHMQHMERLQVQVTEYYPTKGTSSPAEAEKKEDN
  RYSDLKTIICNYSETGPPEPPYSFHQVTIDKVSPYGFFAHDPVNLPRGGPSSGKVQATPPSSATTYVERPTVLPI
  LTLLDSRVSCHSQADLQGPYSDRISPRQRRSITRDSDTPLSLMSVNHEELERSPSGFSISQDRDDYVFGPNGGSS
  WMREKRYLAEGETDTDTDPFTPSGSMPLSSTGDGISDSVWTPSNKPI

• Structural information:
  • Interpro: IPR020969  IPR005821  IPR003937  IPR003948  IPR013821   IPR028325  
  • PDB: 5J03
  • PDBsum: 5J03
  • STRING: ENSP00000373648
• Other Databases: GeneCards:  KCNQ3  Malacards:  KCNQ3

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:0043194	axon initial segment	IBA	cellular component
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:0005516	calmodulin binding	IDA	molecular function
GO:0008076	voltage-gated potassium channel complex	IDA	cellular component
GO:0005249	voltage-gated potassium channel activity	IDA	molecular function
GO:0071805	potassium ion transmembrane transport	IDA	biological process
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:0005887	integral component of plasma membrane	IDA	cellular component
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:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0034765	regulation of ion transmembrane transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0006813	potassium ion transport	IEA	biological process
GO:0007268	chemical synaptic transmission	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0071805	potassium ion transmembrane transport	IEA	biological process
GO:0060081	membrane hyperpolarization	IEA	biological process
GO:0043194	axon initial segment	IEA	cellular component
GO:0009986	cell surface	IEA	cellular component
GO:0008076	voltage-gated potassium channel complex	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0033268	node of Ranvier	IEA	cellular component
GO:0005516	calmodulin binding	IEA	molecular function
GO:0005267	potassium channel activity	IEA	molecular function
GO:0005244	voltage-gated ion channel activity	IEA	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
Benign familial neonatal seizure	KEGG:H00806
Benign familial neonatal seizure	KEGG:H00806
autistic disorder	PMID:23596459
Benign neonatal seizures	PMID:10852552
Benign neonatal seizures	PMID:9425900
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

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)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray