ASIC4

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.[5] The cDNA of this gene was first cloned in 2000.[6][7] The ASIC genes have splicing variants that encode different proteins that are called isoforms.

ASIC4
Identifiers
AliasesASIC4, ACCN4, BNAC4, acid sensing ion channel subunit family member 4
External IDsOMIM: 606715 MGI: 2652846 HomoloGene: 11166 GeneCards: ASIC4
Gene location (Human)
Chr.Chromosome 2 (human)[1]
Band2q35Start219,514,170 bp[1]
End219,538,772 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

55515

241118

Ensembl

ENSG00000072182

ENSMUSG00000033007

UniProt

Q96FT7

Q7TNS7

RefSeq (mRNA)

NM_018674
NM_182847

NM_183022

RefSeq (protein)

NP_061144
NP_878267

NP_898843

Location (UCSC)Chr 2: 219.51 – 219.54 MbChr 1: 75.45 – 75.47 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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]

Structure and function

This gene encodes a member of the ASIC/ENaC superfamily of proteins.[9] 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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References
  1. GRCh38: Ensembl release 89: ENSG00000072182 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000033007 - 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. Hanukoglu I (2017). "ASIC and ENaC type sodium channels: Conformational states and the structures of the ion selectivity filters" (PDF). FEBS Journal. 284 (4): 525–545. doi:10.1111/febs.13840. PMID 27580245.
  6. Gründer S, Geissler HS, Bässler EL, Ruppersberg JP (2000). "A new member of acid-sensing ion channels from pituitary gland". NeuroReport. 11 (8): 1607–11. doi:10.1097/00001756-200006050-00003. PMID 10852210.
  7. Gründer S, Geisler HS, Rainier S, Fink JK (2001). "Acid-sensing ion channel (ASIC) 4 gene: physical mapping, genomic organisation, and evaluation as a candidate for paroxysmal dystonia". Eur. J. Hum. Genet. 9 (9): 672–6. doi:10.1038/sj.ejhg.5200699. PMID 11571555.
  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. 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

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

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