ASIC2

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; OMA:ASIC2 - orthologs
Gene location (Human)
Chr.	Chromosome 17 (human)
End	34,174,964 bp
Gene location (Mouse)
Chr.	Chromosome 11 (mouse)
End	81,859,283 bp
RNA expression pattern
	Top expressed in
	prefrontal cortex; ; cingulate gyrus; ; anterior cingulate cortex; ; Brodmann area 9; ; cerebellar cortex; ; cerebellar hemisphere; ; right hemisphere of cerebellum; ; Brodmann area 10; ; Brodmann area 46; ; orbitofrontal cortex;
	Top expressed in
	perirhinal cortex; ; entorhinal cortex; ; CA3 field; ; primary motor cortex; ; dorsomedial hypothalamic nucleus; ; primary visual cortex; ; central gray substance of midbrain; ; paraventricular nucleus of hypothalamus; ; cingulate gyrus; ; lateral hypothalamus;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	ion gated channel activity; sodium channel activity; ion channel activity; protein binding; cation channel activity; ligand-gated sodium channel activity; acid-sensing ion channel activity;
Cellular component	integral component of membrane; membrane; plasma membrane; dendritic spine; integral component of plasma membrane; synapse; soma; neuron projection;
Biological process	chemical synaptic transmission; positive regulation of synapse assembly; peripheral nervous system development; sodium ion transmembrane transport; detection of mechanical stimulus involved in sensory perception; sodium ion transport; regulation of membrane potential; regulation of ion transmembrane transport; response to mechanical stimulus; negative regulation of apoptotic process; cation transport; hearing; sensory perception of sour taste; ion transport; cation transmembrane transport; central nervous system development; ion transmembrane transport; regulation of vasoconstriction; protein localization to synapse; response to acidic pH; phototransduction; regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback;
	Sources:Amigo / QuickGO
Orthologs
	40
	11418
	ENSG00000108684
	ENSMUSG00000020704
	Q16515
	Q925H0
	NM_183377; NM_001094
	NM_001034013; NM_007384
	NP_001085; NP_899233
	NP_001029185; NP_031410
	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.

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]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000108684 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000020704 – 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.
^ ^a ^b 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.
^ 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.
^ 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.
^ 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.
^ 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.
^ 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.
^ 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.
^ 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.

External links

Human ASIC2 genome location and ASIC2 gene details page in the UCSC Genome Browser.
Human BNC1 genome location and BNC1 gene details page in the UCSC Genome Browser.

This article on a gene on human chromosome 17 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000108684 – Ensembl, May 2017

[refGRCm38Ensembl-2] 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.

[2017-Hanukoglu-5] 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.

[pmid8921408-6] 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.

[2016-Hanukoglu-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.

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Structure and function

References

Further reading

External links