KCND2: Difference between revisions
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'''KCND2''' is a gene that encodes | |||
{{Infobox gene | |||
| name = KCND2 | |||
| symbol = KCND2 | |||
| HGNCid = 6234 | |||
| chromosome = 7 | |||
| arm = q | |||
| band = 31.32 | |||
}} | |||
'''KCND2''' is a gene that encodes a protein known as potassium voltage-gated channel subfamily D member 2. This protein is part of the [[voltage-gated potassium channel]] family, which plays a crucial role in the electrical excitability of [[neurons]] and [[cardiac myocytes]]. | |||
== Function == | == Function == | ||
The | The KCND2 gene product is involved in the formation of the transient outward potassium current (I<sub>to</sub>), which is important for the repolarization phase of the [[action potential]] in neurons and cardiac cells. This current helps to regulate the duration of the action potential and the frequency of [[neuronal firing]]. | ||
== Clinical Significance == | == Clinical Significance == | ||
Mutations | Mutations or dysregulation of the KCND2 gene can lead to various [[neurological disorders]] and [[cardiac arrhythmias]]. Research has shown that alterations in KCND2 expression or function may be associated with conditions such as [[epilepsy]], [[ataxia]], and [[Brugada syndrome]]. | ||
== | == Expression == | ||
KCND2 is predominantly expressed in the [[central nervous system]], particularly in the [[cerebral cortex]], [[hippocampus]], and [[cerebellum]]. It is also expressed in the [[heart]], where it contributes to the cardiac action potential. | |||
[[ | == Interactions == | ||
KCND2 interacts with several auxiliary subunits and proteins that modulate its function. These include [[KChIP]] proteins, which enhance the surface expression and stability of the channel, and [[DPP6]] and [[DPP10]], which modulate the kinetics and voltage dependence of the channel. | |||
== See Also == | == See Also == | ||
* [[Voltage-gated potassium channel]] | * [[Voltage-gated potassium channel]] | ||
* [[Action potential]] | * [[Action potential]] | ||
* [[ | * [[Neuronal excitability]] | ||
* [[ | * [[Cardiac electrophysiology]] | ||
== References == | == References == | ||
{{Reflist}} | |||
== External Links == | |||
* [https://www.ncbi.nlm.nih.gov/gene/3751 KCND2 Gene - NCBI] | |||
* [https://www.genecards.org/cgi-bin/carddisp.pl?gene=KCND2 KCND2 Gene - GeneCards] | |||
[[Category:Genes]] | [[Category:Genes on human chromosome 7]] | ||
[[Category: | [[Category:Ion channels]] | ||
[[Category: | [[Category:Neuroscience]] | ||
[[Category:Cardiology]] | |||
Latest revision as of 20:21, 30 December 2024
| Symbol | KCND2 |
|---|---|
| HGNC ID | 6234 |
| Alternative symbols | – |
| Entrez Gene | – |
| OMIM | – |
| RefSeq | – |
| UniProt | – |
| Chromosome | 7q31.32 |
| Locus supplementary data | – |
KCND2 is a gene that encodes a protein known as potassium voltage-gated channel subfamily D member 2. This protein is part of the voltage-gated potassium channel family, which plays a crucial role in the electrical excitability of neurons and cardiac myocytes.
Function[edit]
The KCND2 gene product is involved in the formation of the transient outward potassium current (Ito), which is important for the repolarization phase of the action potential in neurons and cardiac cells. This current helps to regulate the duration of the action potential and the frequency of neuronal firing.
Clinical Significance[edit]
Mutations or dysregulation of the KCND2 gene can lead to various neurological disorders and cardiac arrhythmias. Research has shown that alterations in KCND2 expression or function may be associated with conditions such as epilepsy, ataxia, and Brugada syndrome.
Expression[edit]
KCND2 is predominantly expressed in the central nervous system, particularly in the cerebral cortex, hippocampus, and cerebellum. It is also expressed in the heart, where it contributes to the cardiac action potential.
Interactions[edit]
KCND2 interacts with several auxiliary subunits and proteins that modulate its function. These include KChIP proteins, which enhance the surface expression and stability of the channel, and DPP6 and DPP10, which modulate the kinetics and voltage dependence of the channel.
See Also[edit]
References[edit]
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