KCNA2

Function

Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. It belongs to the delayed rectifier class, members of which allow nerve cells to efficiently repolarize following an action potential. The coding region of this gene is intronless, and the gene is clustered with genes KCNA3 and KCNA10 on chromosome 1.

Interactions

KCNA2 has been shown to interact with KCNA4, DLG4, PTPRA, KCNAB2, RHOA and Cortactin.

Clinical significance

Mutations in this gene cause KCNA2-related disorders. These can include epilepsy, intellectual and developmental disabilities, movement disorders, autism spectrum disorder, attention deficit hyperactivity disorder, and hereditary spastic paraplegia.

References

References

1. (December 2005). "International Union of Pharmacology. LIII. Nomenclature and molecular relationships of voltage-gated potassium channels". Pharmacological Reviews.
2. "Entrez Gene: KCNA2 potassium voltage-gated channel, shaker-related subfamily, member 2".
3. (August 1999). "Subunit composition of Kv1 channels in human CNS". Journal of Neurochemistry.
4. (November 2002). "N-terminal PDZ-binding domain in Kv1 potassium channels". FEBS Letters.
5. (January 1999). "Receptor protein tyrosine phosphatase alpha participates in the m1 muscarinic acetylcholine receptor-dependent regulation of Kv1.2 channel activity". The EMBO Journal.
6. (March 1996). "Selective interaction of voltage-gated K+ channel beta-subunits with alpha-subunits". The Journal of Biological Chemistry.
7. (June 1998). "The small GTP-binding protein RhoA regulates a delayed rectifier potassium channel". Cell.
8. (October 2002). "Tyrosine phosphorylation of Kv1.2 modulates its interaction with the actin-binding protein cortactin". The Journal of Biological Chemistry.
9. (October 2016). "A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia". Annals of Neurology.
10. (November 2024). "Roles of KCNA2 in Neurological Diseases: from Physiology to Pathology". Molecular Neurobiology.