en KCNA2

KCNA2
Identifiers
Aliases	KCNA2, HBK5, HK4, HUKIV, KV1.2, MK2, NGK1, RBK2, EIEE32, potassium voltage-gated channel subfamily A member 2, DEE32
External IDs	OMIM: 176262; MGI: 96659; HomoloGene: 21034; GeneCards: KCNA2; OMA:KCNA2 - orthologs
Gene location (Human)
Chr.	Chromosome 1 (human)
End	110,631,474 bp
Gene location (Mouse)
Chr.	Chromosome 3 (mouse)
End	107,022,321 bp
RNA expression pattern
	Top expressed in
	Brodmann area 23; ; middle temporal gyrus; ; lateral nuclear group of thalamus; ; postcentral gyrus; ; primary visual cortex; ; cerebellar vermis; ; superior frontal gyrus; ; Pons; ; Brodmann area 46; ; endothelial cell;
	Top expressed in
	lateral geniculate nucleus; ; pontine nuclei; ; lobe of cerebellum; ; medial geniculate nucleus; ; anterior horn of spinal cord; ; medial vestibular nucleus; ; medial dorsal nucleus; ; deep cerebellar nuclei; ; cerebellar vermis; ; facial motor nucleus;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	potassium channel activity; voltage-gated ion channel activity; ion channel activity; protein binding; voltage-gated potassium channel activity; delayed rectifier potassium channel activity; outward rectifier potassium channel activity; kinesin binding;
Cellular component	juxtaparanode region of axon; axon terminus; integral component of membrane; perikaryon; cell projection; endoplasmic reticulum membrane; membrane; voltage-gated potassium channel complex; plasma membrane; synapse; integral component of plasma membrane; neuronal cell body membrane; axon; cell junction; dendrite; endoplasmic reticulum; neuron projection; lamellipodium membrane; presynaptic membrane; lamellipodium; potassium channel complex; paranodal junction; calyx of Held; integral component of presynaptic membrane;
Biological process	regulation of dopamine secretion; regulation of ion transmembrane transport; ion transport; optic nerve structural organization; potassium ion transport; transmembrane transport; potassium ion transmembrane transport; regulation of circadian sleep/wake cycle, non-REM sleep; protein homooligomerization; protein complex oligomerization; sensory perception of pain; neuronal action potential;
	Sources:Amigo / QuickGO
Orthologs
	3737
	16490
	ENSG00000177301
	ENSMUSG00000040724
	P16389
	P63141
	NM_001204269; NM_004974
	NM_008417
	NP_001191198; NP_004965
	NP_032443
	Wikidata
View/Edit Human	View/Edit Mouse

Potassium voltage-gated channel subfamily A member 2 also known as K_v1.2 is a protein that in humans is encoded by the KCNA2 gene.^[5]^[6]

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.^[6]

Interactions

KCNA2 has been shown to interact with KCNA4,^[7] DLG4,^[8] PTPRA,^[9] KCNAB2,^[7]^[10] RHOA^[11] and Cortactin.^[12]

Clinical

Mutations in this gene have been associated with hereditary spastic paraplegia.^[13]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000177301 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000040724 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Gutman GA, Chandy KG, Grissmer S, Lazdunski M, McKinnon D, Pardo LA, Robertson GA, Rudy B, Sanguinetti MC, Stühmer W, Wang X (December 2005). "International Union of Pharmacology. LIII. Nomenclature and molecular relationships of voltage-gated potassium channels". Pharmacological Reviews. 57 (4): 473–508. doi:10.1124/pr.57.4.10. PMID 16382104. S2CID 219195192.
^ ^a ^b "Entrez Gene: KCNA2 potassium voltage-gated channel, shaker-related subfamily, member 2".
^ ^a ^b Coleman SK, Newcombe J, Pryke J, Dolly JO (August 1999). "Subunit composition of Kv1 channels in human CNS". Journal of Neurochemistry. 73 (2): 849–58. doi:10.1046/j.1471-4159.1999.0730849.x. PMID 10428084.
^ Eldstrom J, Doerksen KW, Steele DF, Fedida D (November 2002). "N-terminal PDZ-binding domain in Kv1 potassium channels". FEBS Letters. 531 (3): 529–37. Bibcode:2002FEBSL.531..529E. doi:10.1016/S0014-5793(02)03572-X. PMID 12435606. S2CID 40689829.
^ Tsai W, Morielli AD, Cachero TG, Peralta EG (January 1999). "Receptor protein tyrosine phosphatase alpha participates in the m1 muscarinic acetylcholine receptor-dependent regulation of Kv1.2 channel activity". The EMBO Journal. 18 (1): 109–18. doi:10.1093/emboj/18.1.109. PMC 1171107. PMID 9878055.
^ Nakahira K, Shi G, Rhodes KJ, Trimmer JS (March 1996). "Selective interaction of voltage-gated K+ channel beta-subunits with alpha-subunits". The Journal of Biological Chemistry. 271 (12): 7084–9. doi:10.1074/jbc.271.12.7084. PMID 8636142.
^ Cachero TG, Morielli AD, Peralta EG (June 1998). "The small GTP-binding protein RhoA regulates a delayed rectifier potassium channel". Cell. 93 (6): 1077–85. doi:10.1016/S0092-8674(00)81212-X. PMID 9635436. S2CID 13943167.
^ Hattan D, Nesti E, Cachero TG, Morielli AD (October 2002). "Tyrosine phosphorylation of Kv1.2 modulates its interaction with the actin-binding protein cortactin". The Journal of Biological Chemistry. 277 (41): 38596–606. doi:10.1074/jbc.M205005200. PMID 12151401.
^ Helbig KL, Hedrich UB, Shinde DN, Krey I, Teichmann AC, Hentschel J, Schubert J, Chamberlin AC, Huether R, Lu HM, Alcaraz WA, Tang S, Jungbluth C, Dugan SL, Vainionpää L, Karle KN, Synofzik M, Schöls L, Schüle R, Lehesjoki AE, Helbig I, Lerche H, Lemke JR (October 2016). "A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia". Annals of Neurology. 80 (4): 638–642. doi:10.1002/ana.24762. PMC 5129488. PMID 27543892.

External links

Kv1.2+Potassium+Channel at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
KCNA2+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000177301 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000040724 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid16382104-5] Gutman GA, Chandy KG, Grissmer S, Lazdunski M, McKinnon D, Pardo LA, Robertson GA, Rudy B, Sanguinetti MC, Stühmer W, Wang X (December 2005). "International Union of Pharmacology. LIII. Nomenclature and molecular relationships of voltage-gated potassium channels". Pharmacological Reviews. 57 (4): 473–508. doi:10.1124/pr.57.4.10. PMID 16382104. S2CID 219195192.

[entrez-6] "Entrez Gene: KCNA2 potassium voltage-gated channel, shaker-related subfamily, member 2".

[pmid10428084-7] Coleman SK, Newcombe J, Pryke J, Dolly JO (August 1999). "Subunit composition of Kv1 channels in human CNS". Journal of Neurochemistry. 73 (2): 849–58. doi:10.1046/j.1471-4159.1999.0730849.x. PMID 10428084.

[pmid12435606-8] Eldstrom J, Doerksen KW, Steele DF, Fedida D (November 2002). "N-terminal PDZ-binding domain in Kv1 potassium channels". FEBS Letters. 531 (3): 529–37. Bibcode:2002FEBSL.531..529E. doi:10.1016/S0014-5793(02)03572-X. PMID 12435606. S2CID 40689829.

[pmid9878055-9] Tsai W, Morielli AD, Cachero TG, Peralta EG (January 1999). "Receptor protein tyrosine phosphatase alpha participates in the m1 muscarinic acetylcholine receptor-dependent regulation of Kv1.2 channel activity". The EMBO Journal. 18 (1): 109–18. doi:10.1093/emboj/18.1.109. PMC 1171107. PMID 9878055.

[pmid8636142-10] Nakahira K, Shi G, Rhodes KJ, Trimmer JS (March 1996). "Selective interaction of voltage-gated K+ channel beta-subunits with alpha-subunits". The Journal of Biological Chemistry. 271 (12): 7084–9. doi:10.1074/jbc.271.12.7084. PMID 8636142.

[pmid9635436-11] Cachero TG, Morielli AD, Peralta EG (June 1998). "The small GTP-binding protein RhoA regulates a delayed rectifier potassium channel". Cell. 93 (6): 1077–85. doi:10.1016/S0092-8674(00)81212-X. PMID 9635436. S2CID 13943167.

[pmid12151401-12] Hattan D, Nesti E, Cachero TG, Morielli AD (October 2002). "Tyrosine phosphorylation of Kv1.2 modulates its interaction with the actin-binding protein cortactin". The Journal of Biological Chemistry. 277 (41): 38596–606. doi:10.1074/jbc.M205005200. PMID 12151401.

[Helbig2016-13] Helbig KL, Hedrich UB, Shinde DN, Krey I, Teichmann AC, Hentschel J, Schubert J, Chamberlin AC, Huether R, Lu HM, Alcaraz WA, Tang S, Jungbluth C, Dugan SL, Vainionpää L, Karle KN, Synofzik M, Schöls L, Schüle R, Lehesjoki AE, Helbig I, Lerche H, Lemke JR (October 2016). "A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia". Annals of Neurology. 80 (4): 638–642. doi:10.1002/ana.24762. PMC 5129488. PMID 27543892.

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KCNA2

Function

Interactions

Clinical

See also

References

Further reading

External links