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.
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 hydrophobictransmembrane (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]
Referencesedit
^ abcGRCh38: Ensembl release 89: ENSG00000108684 - Ensembl, May 2017
^ abcGRCm38: 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.
^ abHanukoglu 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. PMC19813. 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. PMC4756657. PMID 26772908.
Further readingedit
Duggan A, Garcia-Anoveros J, Corey DP (Feb 2002). "The PDZ domain protein PICK1 and the sodium channel BNaC1 interact and localize at mechanosensory terminals of dorsal root ganglion neurons and dendrites of central neurons". The Journal of Biological Chemistry. 277 (7): 5203–8. doi:10.1074/jbc.M104748200. PMID 11739374.
Hruska-Hageman AM, Wemmie JA, Price MP, Welsh MJ (Feb 2002). "Interaction of the synaptic protein PICK1 (protein interacting with C kinase 1) with the non-voltage gated sodium channels BNC1 (brain Na+ channel 1) and ASIC (acid-sensing ion channel)". The Biochemical Journal. 361 (Pt 3): 443–50. doi:10.1042/0264-6021:3610443. PMC1222326. PMID 11802773.
Price MP, Thompson RJ, Eshcol JO, Wemmie JA, Benson CJ (Dec 2004). "Stomatin modulates gating of acid-sensing ion channels". The Journal of Biological Chemistry. 279 (51): 53886–91. doi:10.1074/jbc.M407708200. PMID 15471860.
Saugstad JA, Roberts JA, Dong J, Zeitouni S, Evans RJ (Dec 2004). "Analysis of the membrane topology of the acid-sensing ion channel 2a". The Journal of Biological Chemistry. 279 (53): 55514–9. doi:10.1074/jbc.M411849200. PMC2928846. PMID 15504740.
Vila-Carriles WH, Kovacs GG, Jovov B, Zhou ZH, Pahwa AK, Colby G, Esimai O, Gillespie GY, Mapstone TB, Markert JM, Fuller CM, Bubien JK, Benos DJ (Jul 2006). "Surface expression of ASIC2 inhibits the amiloride-sensitive current and migration of glioma cells". The Journal of Biological Chemistry. 281 (28): 19220–32. doi:10.1074/jbc.M603100200. PMID 16704974.
Chai S, Li M, Lan J, Xiong ZG, Saugstad JA, Simon RP (Aug 2007). "A kinase-anchoring protein 150 and calcineurin are involved in regulation of acid-sensing ion channels ASIC1a and ASIC2a". The Journal of Biological Chemistry. 282 (31): 22668–77. doi:10.1074/jbc.M703624200. PMC3799797. PMID 17548344.
Joch M, Ase AR, Chen CX, MacDonald PA, Kontogiannea M, Corera AT, Brice A, Séguéla P, Fon EA (Aug 2007). "Parkin-mediated monoubiquitination of the PDZ protein PICK1 regulates the activity of acid-sensing ion channels". Molecular Biology of the Cell. 18 (8): 3105–18. doi:10.1091/mbc.E05-11-1027. PMC1949385. PMID 17553932.
External linksedit
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.
asic2, acid, sensing, channel, also, known, amiloride, sensitive, cation, channel, neuronal, accn1, brain, sodium, channel, bnac1, protein, that, humans, encoded, gene, gene, five, paralogous, genes, that, encode, proteins, that, form, trimeric, acid, sensing,. 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 ASIC2IdentifiersAliasesASIC2 ACCN ACCN1 ASIC2a BNC1 BNaC1 MDEG hBNaC1 acid sensing ion channel subunit 2External IDsOMIM 601784 MGI 1100867 HomoloGene 137202 GeneCards ASIC2Gene location Human Chr Chromosome 17 human 1 Band17q11 2 q12Start33 013 087 bp 1 End34 174 964 bp 1 Gene location Mouse Chr Chromosome 11 mouse 2 Band11 B5 11 48 43 cMStart80 770 995 bp 2 End81 859 283 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed inprefrontal cortexcingulate gyrusBrodmann area 9cerebellar cortexcerebellar hemisphereBrodmann area 10Brodmann area 46orbitofrontal cortexhypothalamusamygdalaTop expressed inentorhinal cortexprimary motor cortexdorsomedial hypothalamic nucleusparaventricular nucleus of hypothalamuscingulate gyruslateral hypothalamussuperior frontal gyrussuperior colliculuslateral geniculate nucleusarcuate nucleusMore reference expression dataBioGPSMore reference expression dataGene ontologyMolecular functionion gated channel activity sodium channel activity ion channel activity protein binding cation channel activity ligand gated sodium channel activity acid sensing ion channel activityCellular componentintegral component of membrane membrane plasma membrane dendritic spine integral component of plasma membrane synapse neuronal cell body neuron projectionBiological processchemical 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 sensory perception of sound 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 feedbackSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez4011418EnsemblENSG00000108684ENSMUSG00000020704UniProtQ16515Q925H0RefSeq mRNA NM 183377NM 001094NM 001034013NM 007384RefSeq protein NP 001085NP 899233NP 001029185NP 031410Location UCSC Chr 17 33 01 34 17 MbChr 11 80 77 81 86 MbPubMed search 3 4 WikidataView Edit HumanView Edit MouseThese 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 Contents 1 Structure and function 2 References 3 Further reading 4 External linksStructure and function editThis 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 edit 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 Mattei 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 Garcia Anoveros 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 Seguela 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 Further reading editDuggan A Garcia Anoveros J Corey DP Feb 2002 The PDZ domain protein PICK1 and the sodium channel BNaC1 interact and localize at mechanosensory terminals of dorsal root ganglion neurons and dendrites of central neurons The Journal of Biological Chemistry 277 7 5203 8 doi 10 1074 jbc M104748200 PMID 11739374 Hruska Hageman AM Wemmie JA Price MP Welsh MJ Feb 2002 Interaction of the synaptic protein PICK1 protein interacting with C kinase 1 with the non voltage gated sodium channels BNC1 brain Na channel 1 and ASIC acid sensing ion channel The Biochemical Journal 361 Pt 3 443 50 doi 10 1042 0264 6021 3610443 PMC 1222326 PMID 11802773 Price MP Thompson RJ Eshcol JO Wemmie JA Benson CJ Dec 2004 Stomatin modulates gating of acid sensing ion channels The Journal of Biological Chemistry 279 51 53886 91 doi 10 1074 jbc M407708200 PMID 15471860 Saugstad JA Roberts JA Dong J Zeitouni S Evans RJ Dec 2004 Analysis of the membrane topology of the acid sensing ion channel 2a The Journal of Biological Chemistry 279 53 55514 9 doi 10 1074 jbc M411849200 PMC 2928846 PMID 15504740 Vila Carriles WH Kovacs GG Jovov B Zhou ZH Pahwa AK Colby G Esimai O Gillespie GY Mapstone TB Markert JM Fuller CM Bubien JK Benos DJ Jul 2006 Surface expression of ASIC2 inhibits the amiloride sensitive current and migration of glioma cells The Journal of Biological Chemistry 281 28 19220 32 doi 10 1074 jbc M603100200 PMID 16704974 Chai S Li M Lan J Xiong ZG Saugstad JA Simon RP Aug 2007 A kinase anchoring protein 150 and calcineurin are involved in regulation of acid sensing ion channels ASIC1a and ASIC2a The Journal of Biological Chemistry 282 31 22668 77 doi 10 1074 jbc M703624200 PMC 3799797 PMID 17548344 Joch M Ase AR Chen CX MacDonald PA Kontogiannea M Corera AT Brice A Seguela P Fon EA Aug 2007 Parkin mediated monoubiquitination of the PDZ protein PICK1 regulates the activity of acid sensing ion channels Molecular Biology of the Cell 18 8 3105 18 doi 10 1091 mbc E05 11 1027 PMC 1949385 PMID 17553932 External links editHuman 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 nbsp This article on a gene on human chromosome 17 is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title ASIC2 amp oldid 1193806771, wikipedia, wiki, book, books, library,
