KCNA2

Last updated
KCNA2
Protein KCNA2 PDB 1dsx.png
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
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001204269
NM_004974

NM_008417

RefSeq (protein)

NP_001191198
NP_004965

NP_032443

Location (UCSC) Chr 1: 110.52 – 110.63 Mb Chr 3: 107.01 – 107.02 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Potassium voltage-gated channel subfamily A member 2 also known as Kv1.2 is a protein that in humans is encoded by the KCNA2 gene. [5] [6]

Contents

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]

See also

Related Research Articles

<span class="mw-page-title-main">Kv1.1</span>

Potassium voltage-gated channel subfamily A member 1 also known as Kv1.1 is a shaker related voltage-gated potassium channel that in humans is encoded by the KCNA1 gene. Isaacs syndrome is a result of an autoimmune reaction against the Kv1.1 ion channel.

<span class="mw-page-title-main">Voltage-gated potassium channel</span> Class of transport proteins

Voltage-gated potassium channels (VGKCs) are transmembrane channels specific for potassium and sensitive to voltage changes in the cell's membrane potential. During action potentials, they play a crucial role in returning the depolarized cell to a resting state.

<span class="mw-page-title-main">KCNE1</span> Protein-coding gene in the species Homo sapiens

Potassium voltage-gated channel subfamily E member 1 is a protein that in humans is encoded by the KCNE1 gene.

<span class="mw-page-title-main">Potassium channel tetramerisation domain</span>

K+ channel tetramerisation domain is the N-terminal, cytoplasmic tetramerisation domain (T1) of voltage-gated K+ channels. It defines molecular determinants for subfamily-specific assembly of alpha-subunits into functional tetrameric channels. It is distantly related to the BTB/POZ domain Pfam PF00651.

<span class="mw-page-title-main">KCNA5</span> Protein-coding gene in the species Homo sapiens

Potassium voltage-gated channel, shaker-related subfamily, member 5, also known as KCNA5 or Kv1.5, is a protein that in humans is encoded by the KCNA5 gene.

<span class="mw-page-title-main">KCND2</span> Protein-coding gene in the species Homo sapiens

Potassium voltage-gated channel subfamily D member 2 is a protein that in humans is encoded by the KCND2 gene. It contributes to the cardiac transient outward potassium current (Ito1), the main contributing current to the repolarizing phase 1 of the cardiac action potential.

<span class="mw-page-title-main">KCNA4</span> Protein-coding gene in the species Homo sapiens

Potassium voltage-gated channel subfamily A member 4 also known as Kv1.4 is a protein that in humans is encoded by the KCNA4 gene. It contributes to the cardiac transient outward potassium current (Ito1), the main contributing current to the repolarizing phase 1 of the cardiac action potential.

<span class="mw-page-title-main">KCNIP2</span> Protein-coding gene in the species Homo sapiens

Kv channel-interacting protein 2 also known as KChIP2 is a protein that in humans is encoded by the KCNIP2 gene.

<span class="mw-page-title-main">KCNA3</span> Protein-coding gene in the species Homo sapiens

Potassium voltage-gated channel, shaker-related subfamily, member 3, also known as KCNA3 or Kv1.3, is a protein that in humans is encoded by the KCNA3 gene.

<span class="mw-page-title-main">KCNB1</span> Protein-coding gene in the species Homo sapiens

Potassium voltage-gated channel, Shab-related subfamily, member 1, also known as KCNB1 or Kv2.1, is a protein that, in humans, is encoded by the KCNB1 gene.

<span class="mw-page-title-main">KCNE3</span> Protein-coding gene in the species Homo sapiens

Potassium voltage-gated channel, Isk-related family, member 3 (KCNE3), also known as MinK-related peptide 2(MiRP2) is a protein that in humans is encoded by the KCNE3 gene.

<span class="mw-page-title-main">KCND3</span> Protein-coding gene in the species Homo sapiens

Potassium voltage-gated channel subfamily D member 3 also known as Kv4.3 is a protein that in humans is encoded by the KCND3 gene. It contributes to the cardiac transient outward potassium current (Ito1), the main contributing current to the repolarizing phase 1 of the cardiac action potential.

<span class="mw-page-title-main">KCNH1</span> Protein-coding gene in the species Homo sapiens

Potassium voltage-gated channel subfamily H member 1 is a protein that in humans is encoded by the KCNH1 gene.

<span class="mw-page-title-main">KCNAB1</span> Protein-coding gene in the species Homo sapiens

Voltage-gated potassium channel subunit beta-1 is a protein that in humans is encoded by the KCNAB1 gene.

<span class="mw-page-title-main">KCNAB2</span> Protein-coding gene in the species Homo sapiens

Voltage-gated potassium channel subunit beta-2 is a protein that in humans is encoded by the KCNAB2 gene.

<span class="mw-page-title-main">KCNS3</span> Protein-coding gene in the species Homo sapiens

Potassium voltage-gated channel subfamily S member 3 (Kv9.3) is a protein that in humans is encoded by the KCNS3 gene. KCNS3 gene belongs to the S subfamily of the potassium channel family. It is highly expressed in pulmonary artery myocytes, placenta, and parvalbumin-containing GABA neurons in brain cortex. In humans, single-nucleotide polymorphisms of the KCNS3 gene are associated with airway hyperresponsiveness, whereas decreased KCNS3 mRNA expression is found in the prefrontal cortex of patients with schizophrenia.

<span class="mw-page-title-main">KCNC1</span> Protein-coding gene in the species Homo sapiens

Potassium voltage-gated channel subfamily C member 1 is a protein that in humans is encoded by the KCNC1 gene.

<span class="mw-page-title-main">KCNA7</span> Protein-coding gene in the species Homo sapiens

Potassium voltage-gated channel subfamily A member 7 also known as Kv1.7 is a protein that in humans is encoded by the KCNA7 gene. The protein encoded by this gene is a voltage-gated potassium channel subunit. It may contribute to the cardiac transient outward potassium current (Ito1), the main contributing current to the repolarizing phase 1 of the cardiac action potential.

<span class="mw-page-title-main">KCNB2</span> Protein-coding gene in the species Homo sapiens

Potassium voltage-gated channel subfamily B member 2 is a protein that in humans is encoded by the KCNB2 gene. The protein encoded by this gene is a voltage-gated potassium channel subunit.

<span class="mw-page-title-main">KCNAB3</span> Protein-coding gene in the species Homo sapiens

Voltage-gated potassium channel subunit beta-3 is a protein that in humans is encoded by the KCNAB3 gene. The protein encoded by this gene is a voltage-gated potassium channel beta subunit.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000177301 - Ensembl, May 2017
  2. 1 2 3 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.
  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.
  6. 1 2 "Entrez Gene: KCNA2 potassium voltage-gated channel, shaker-related subfamily, member 2".
  7. 1 2 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.
  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. doi: 10.1016/S0014-5793(02)03572-X . PMID   12435606.
  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.
  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.
  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.
  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.
  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). doi:10.1002/ana.24762. PMC   5129488 . PMID   27543892.

Further reading

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