InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: KCNQ2

Summary

InnateDB Protein

IDBP-86082.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

KCNQ2

Protein Name

potassium voltage-gated channel, KQT-like subfamily, member 2

Synonyms

BFNC; BFNS1; EBN; EBN1; EIEE7; ENB1; HNSPC; KCNA11; KV7.2; KVEBN1;

Species

Homo sapiens

Ensembl Protein

ENSP00000345523

InnateDB Gene

IDBG-86058 (KCNQ2)

Protein Structure

UniProt Annotation

Function

Probably important in the regulation of neuronal excitability. Associates with KCNQ3 to form a potassium channel with essentially identical properties to the channel underlying the native M-current, a slowly activating and deactivating potassium conductance which plays a critical role in determining the subthreshold electrical excitability of neurons as well as the responsiveness to synaptic inputs. KCNQ2/KCNQ3 current is blocked by linopirdine and XE991, and activated by the anticonvulsant retigabine. Muscarinic agonist oxotremorine-M strongly suppress KCNQ2/KCNQ3 current in cells in which cloned KCNQ2/KCNQ3 channels were coexpressed with M1 muscarinic receptors.

Subcellular Localization

Membrane; Multi-pass membrane protein.

Disease Associations

Seizures, benign familial neonatal 1 (BFNS1) [MIM:121200]: A disorder characterized by clusters of seizures occurring in the first days of life. Most patients have spontaneous remission by 12 months of age and show normal psychomotor development. Some rare cases manifest an atypical severe phenotype associated with epileptic encephalopathy and psychomotor retardation. The disorder is distinguished from benign familial infantile seizures by an earlier age at onset. In some patients, neonatal convulsions are followed later in life by myokymia, a benign condition characterized by spontaneous involuntary contractions of skeletal muscles fiber groups that can be observed as vermiform movement of the overlying skin. Electromyography typically shows continuous motor unit activity with spontaneous oligo- and multiplet-discharges of high intraburst frequency (myokymic discharges). Some patients may have isolated myokymia. {ECO:0000269PubMed:11175290, ECO:0000269PubMed:11572947, ECO:0000269PubMed:14534157, ECO:0000269PubMed:15249611, ECO:0000269PubMed:9425895}. Note=The disease is caused by mutations affecting the gene represented in this entry.Epileptic encephalopathy, early infantile, 7 (EIEE7) [MIM:613720]: An autosomal dominant seizure disorder characterized by infantile onset of refractory seizures with resultant delayed neurologic development and persistent neurologic abnormalities. {ECO:0000269PubMed:12742592, ECO:0000269PubMed:15249611}. Note=The disease is caused by mutations affecting the gene represented in this entry.

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, undifferentiated neuroblastoma cells and brain tumors. {ECO:0000269PubMed:10781098}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	5 [view]
Protein-Protein	5 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005216	ion channel activity
GO:0005249	voltage-gated potassium channel activity
GO:0005251	delayed rectifier potassium channel activity
GO:0005267	potassium channel activity
GO:0030506	ankyrin binding

Biological Process

GO:0006811	ion transport
GO:0006813	potassium ion transport
GO:0007268	synaptic transmission
GO:0007399	nervous system development
GO:0007411	axon guidance
GO:0034765	regulation of ion transmembrane transport
GO:0055085	transmembrane transport
GO:0071805	potassium ion transmembrane transport

Cellular Component

GO:0005886	plasma membrane
GO:0008076	voltage-gated potassium channel complex
GO:0016020	membrane
GO:0033268	node of Ranvier
GO:0043194	axon initial segment

Protein Structure and Domains

PDB ID

InterPro

IPR003091 Potassium channel
IPR003937 Potassium channel, voltage dependent, KCNQ
IPR003947 Potassium channel, voltage dependent, KCNQ2
IPR005821 Ion transport domain
IPR013099 Two pore domain potassium channel domain

PFAM

PF00520
PF07885

PRINTS

PR00169
PR01459
PR01461

PIRSF

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

O43526