ASIC2

Last updated
ASIC2
Identifiers
Aliases ASIC2 , ACCN, ACCN1, ASIC2a, BNC1, BNaC1, MDEG, hBNaC1, acid sensing ion channel subunit 2
External IDs OMIM: 601784 MGI: 1100867 HomoloGene: 137202 GeneCards: ASIC2
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_183377
NM_001094

NM_001034013
NM_007384

RefSeq (protein)

NP_001085
NP_899233

NP_001029185
NP_031410

Location (UCSC) Chr 17: 33.01 – 34.17 Mb Chr 11: 80.77 – 81.86 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/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. [5] The cDNA of this gene was first cloned in 1996. [6] [7] [8] [9] The ASIC genes have splicing variants that encode different proteins that are called isoforms.

Contents

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. [10] [11]

Structure and function

This gene encodes a member of the ASIC/ENaC superfamily of proteins. [12] 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. [5]

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<span class="mw-page-title-main">Acid-sensing ion channel</span> Class of transport proteins

Acid-sensing ion channels (ASICs) are neuronal voltage-insensitive sodium channels activated by extracellular protons permeable to Na+. ASIC1 also shows low Ca2+ permeability. ASIC proteins are a subfamily of the ENaC/Deg superfamily of ion channels. These genes have splice variants that encode for several isoforms that are marked by a suffix. In mammals, acid-sensing ion channels (ASIC) are encoded by five genes that produce ASIC protein subunits: ASIC1, ASIC2, ASIC3, ASIC4, and ASIC5. Three of these protein subunits assemble to form the ASIC, which can combine into both homotrimeric and heterotrimeric channels typically found in both the central nervous system and peripheral nervous system. However, the most common ASICs are ASIC1a and ASIC1a/2a and ASIC3. ASIC2b is non-functional on its own but modulates channel activity when participating in heteromultimers and ASIC4 has no known function. On a broad scale, ASICs are potential drug targets due to their involvement in pathological states such as retinal damage, seizures, and ischemic brain injury.

<span class="mw-page-title-main">ASIC4</span> Protein-coding gene in the species Homo sapiens

Acid-sensing ion channel 4 (ASIC4) also known as amiloride-sensitive cation channel 4 (ACCN4) is a protein that in humans is encoded by the ASIC4 gene. The ASIC4 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 2000. The ASIC genes have splicing variants that encode different proteins that are called isoforms.

ASIC5 gene is one of the five paralogous genes that encode proteins that form trimeric Acid-sensing ion channels (ASICs) in mammals. Aliases previously used for this gene include ACCN5 and BASIC. The protein encoded by this gene does not appear to be acid responsive. The cDNA coding for this protein was first characterized in 2000. The ASIC genes have splicing variants that encode different proteins that are called isoforms.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000108684 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000020704 - 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. 1 2 Hanukoglu I (2017). "ASIC and ENaC type sodium channels: Conformational states and the structures of the ion selectivity filters". FEBS Journal. 284 (4): 525–545. doi:10.1111/febs.13840. PMID   27580245. S2CID   24402104.
  6. 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.
  7. 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.
  8. 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.
  9. 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. Bibcode:1997PNAS...94.1459G. doi: 10.1073/pnas.94.4.1459 . PMC   19813 . PMID   9037075.
  10. 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 . hdl: 11380/304669 . PMID   10842183.
  11. 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.
  12. 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   4756657 . PMID   26772908.

Further reading