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ASIC4

From Wikipedia, the free encyclopedia
(Redirected fromACCN4)
Protein-coding gene in the species Homo sapiens

ASIC4
Identifiers
AliasesASIC4, ACCN4, BNAC4, acid sensing ion channel subunit family member 4
External IDsOMIM:606715;MGI:2652846;HomoloGene:11166;GeneCards:ASIC4;OMA:ASIC4 - orthologs
Gene location (Human)
Chromosome 2 (human)
Chr.Chromosome 2 (human)[1]
Chromosome 2 (human)
Genomic location for ASIC4
Genomic location for ASIC4
Band2q35Start219,514,170bp[1]
End219,538,772bp[1]
Gene location (Mouse)
Chromosome 1 (mouse)
Chr.Chromosome 1 (mouse)[2]
Chromosome 1 (mouse)
Genomic location for ASIC4
Genomic location for ASIC4
Band1|1 C4Start75,427,080bp[2]
End75,450,987bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • pituitary gland

  • anterior pituitary

  • right hemisphere of cerebellum

  • amygdala

  • cingulate gyrus

  • anterior cingulate cortex

  • lateral nuclear group of thalamus

  • right frontal lobe

  • hypothalamus

  • substantia nigra
Top expressed in
  • neural layer of retina

  • superior frontal gyrus

  • dentate gyrus of hippocampal formation granule cell

  • primary visual cortex

  • olfactory tubercle

  • embryo

  • superior colliculus

  • nucleus accumbens

  • central gray substance of midbrain

  • lumbar subsegment of spinal cord
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo /QuickGO
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: 75.43 – 75.45 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Acid-sensing ion channel 4 (ASIC4) also known asamiloride-sensitive cation channel 4 (ACCN4) is aprotein that in humans is encoded by the ASIC4gene. The ASIC4 gene is one of the fiveparalogous genes that encode proteins that form trimericacid-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.

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

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This gene encodes a member of the ASIC/ENaC superfamily of proteins.[9] The members of this family areamiloride-sensitivesodium channels that containintracellular N and C termini, 2hydrophobictransmembrane (TM) regions, and a largeextracellular loop, which has manycysteine 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]
  1. ^abcGRCh38: Ensembl release 89: ENSG00000072182Ensembl, May 2017
  2. ^abcGRCm38: Ensembl release 89: ENSMUSG00000033007Ensembl, 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. ^abHanukoglu I (Feb 2017)."ASIC and ENaC type sodium channels: Conformational states and the structures of the ion selectivity filters".The FEBS Journal.284 (4):525–545.doi:10.1111/febs.13840.PMID 27580245.S2CID 24402104.
  6. ^Gründer S, Geissler HS, Bässler EL, Ruppersberg JP (Jun 2000). "A new member of acid-sensing ion channels from pituitary gland".NeuroReport.11 (8):1607–1611.doi:10.1097/00001756-200006050-00003.PMID 10852210.S2CID 46420660.
  7. ^Gründer S, Geisler HS, Rainier S, Fink JK (Sep 2001)."Acid-sensing ion channel (ASIC) 4 gene: physical mapping, genomic organisation, and evaluation as a candidate for paroxysmal dystonia".European Journal of Human Genetics.9 (9):672–676.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):28519–28525.doi:10.1074/jbc.M004114200.hdl:11380/304669.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

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External links

[edit]
Ligand-gated
Voltage-gated
Constitutively active
Proton-gated
Voltage-gated
Calcium-activated
Inward-rectifier
Tandem pore domain
Voltage-gated
Miscellaneous
Cl:Chloride channel
H+:Proton channel
M+:CNG cation channel
M+:TRP cation channel
H2O (+solutes):Porin
Cytoplasm:Gap junction
By gating mechanism
Ion channel class
see alsodisorders

This article incorporates text from theUnited States National Library of Medicine, which is in thepublic domain.

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