ASIC2

ASIC2
Identifiers
Aliases ASIC2, ACCN, ACCN1, ASIC2a, BNC1, BNaC1, MDEG, hBNaC1, acid sensing ion channel subunit 2
External IDs MGI: 1100867 HomoloGene: 137202 GeneCards: ASIC2
Targeted by Drug
Hydron, amiloride, nafamostat[1]
RNA expression pattern
More reference expression data
Orthologs
Species Human Mouse
Entrez

40

11418

Ensembl

ENSG00000108684

ENSMUSG00000020704

UniProt

Q16515

Q925H0

RefSeq (mRNA)

NM_183377
NM_001094

NM_001034013
NM_007384

RefSeq (protein)

NP_001085.2
NP_899233.1

NP_001029185.1
NP_031410.1

Location (UCSC) Chr 17: 33.01 – 34.17 Mb Chr 11: 80.88 – 81.97 Mb
PubMed search [2] [3]
Wikidata
View/Edit HumanView/Edit Mouse

Acid-sensing ion channel 2 (ASIC2) also known as amiloride-sensitive cation channel 1, neuronal (ACCN1) or brain sodium channel 1 (BNaC1) is a protein that in humans is encoded by the ASIC2 gene. The ASIC2 gene is one of the five paralogous genes that encode proteins that form trimeric acid-sensing ion channels (ASICs) in mammals. The cDNA of this gene was first cloned in 1996.[4][5][6][7] The ASIC genes have splicing variants that encode different proteins that are called isoforms.

These genes are mainly expressed in the central and peripheral nervous system.

ASICs can form both homotrimeric (meaning composed of three identical subunits) and heterotrimeric channels.[8][9]

Structure and function

This gene encodes a member of the ASIC/ENaC superfamily of proteins.[10] The members of this family are amiloride-sensitive sodium channels that contain intracellular N and C termini, 2 hydrophobic transmembrane (TM) regions, and a large extracellular loop, which has many cysteine residues with conserved spacing. The TM regions are generally symbolized as TM1 (clone to N-terminus) and TM2 (close to C-terminus).

The pore of the channel through which ions selectively flow from the extracellular side into the cytoplasm is formed by the three TM2 regions of the trimer. [11]

References

  1. "Drugs that physically interact with Acid-sensing ion channel 2 view/edit references on wikidata".
  2. "Human PubMed Reference:".
  3. "Mouse PubMed Reference:".
  4. Waldmann R, Voilley N, Mattéï MG, Lazdunski M (Oct 1996). "The human degenerin MDEG, an amiloride-sensitive neuronal cation channel, is localized on chromosome 17q11.2-17q12 close to the microsatellite D17S798". Genomics. 37 (2): 269–70. doi:10.1006/geno.1996.0558. PMID 8921408.
  5. Price MP, Snyder PM, Welsh MJ (Apr 1996). "Cloning and expression of a novel human brain Na+ channel". The Journal of Biological Chemistry. 271 (14): 7879–82. doi:10.1074/jbc.271.14.7879. PMID 8626462.
  6. Waldmann R, Champigny G, Voilley N, Lauritzen I, Lazdunski M (May 1996). "The mammalian degenerin MDEG, an amiloride-sensitive cation channel activated by mutations causing neurodegeneration in Caenorhabditis elegans". The Journal of Biological Chemistry. 271 (18): 10433–6. doi:10.1074/jbc.271.18.10433. PMID 8631835.
  7. García-Añoveros J, Derfler B, Neville-Golden J, Hyman BT, Corey DP (Feb 1997). "BNaC1 and BNaC2 constitute a new family of human neuronal sodium channels related to degenerins and epithelial sodium channels". Proceedings of the National Academy of Sciences of the United States of America. 94 (4): 1459–64. doi:10.1073/pnas.94.4.1459. PMC 19813Freely accessible. PMID 9037075.
  8. Babinski K, Catarsi S, Biagini G, Séguéla P (Sep 2000). "Mammalian ASIC2a and ASIC3 subunits co-assemble into heteromeric proton-gated channels sensitive to Gd3+". The Journal of Biological Chemistry. 275 (37): 28519–25. doi:10.1074/jbc.M004114200. PMID 10842183.
  9. Bassilana F, Champigny G, Waldmann R, de Weille JR, Heurteaux C, Lazdunski M (Nov 1997). "The acid-sensitive ionic channel subunit ASIC and the mammalian degenerin MDEG form a heteromultimeric H+-gated Na+ channel with novel properties". The Journal of Biological Chemistry. 272 (46): 28819–22. doi:10.1074/jbc.272.46.28819. PMID 9360943.
  10. Hanukoglu I, Hanukoglu A (Jan 2016). "Epithelial sodium channel (ENaC) family: Phylogeny, structure-function, tissue distribution, and associated inherited diseases.". Gene. 579 (2): 95–132. doi:10.1016/j.gene.2015.12.061. PMC 4756657Freely accessible. PMID 26772908.
  11. Hanukoglu I (2016). "ASIC and ENaC type sodium channels: Conformational states and the structures of the ion selectivity filters". FEBS Journal. doi:10.1111/febs.13840. PMID 27580245.

External links

Further reading

This article is issued from Wikipedia - version of the 11/30/2016. The text is available under the Creative Commons Attribution/Share Alike but additional terms may apply for the media files.