ACCN1

Acid sensing (proton gated) ion channel 2
Identifiers
Symbols ASIC2 ; ACCN; ACCN1; ASIC2a; BNC1; BNaC1; MDEG; hBNaC1
External IDs OMIM: 601784 MGI: 1100867 HomoloGene: 137202 IUPHAR: 685 ChEMBL: 1628467 GeneCards: ASIC2 Gene
RNA expression pattern
More reference expression data
Orthologs
Species Human Mouse
Entrez 40 11418
Ensembl ENSG00000108684 ENSMUSG00000020704
UniProt Q16515 Q925H0
RefSeq (mRNA) NM_001094 NM_001034013
RefSeq (protein) NP_001085 NP_001029185
Location (UCSC) Chr 17:
33.01 – 34.17 Mb
Chr 11:
80.88 – 81.97 Mb
PubMed search

Amiloride-sensitive cation channel 1, neuronal is a protein that in humans is encoded by the ACCN1 gene.[1][2] It is also known as an acid-sensing ion channel, ASIC2.[3]

Function

This gene encodes a member of the degenerin/epithelial sodium channel (DEG/ENaC) superfamily. The members of this family are amiloride-sensitive sodium channels that contain intracellular N and C termini, 2 hydrophobic transmembrane regions, and a large extracellular loop, which has many cysteine residues with conserved spacing. The member encoded by this gene may play a role in neurotransmission. In addition, a heteromeric association between this member and ACCN3 (variant 1) has been observed to co-assemble into proton-gated channels sensitive to gadolinium. Alternative splicing has been observed at this locus and two variants, encoding distinct isoforms, have been identified.[2]

See also

References

  1. 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.
  2. 1 2 "Entrez Gene: ACCN1 amiloride-sensitive cation channel 1, neuronal (degenerin)".
  3. "ASIC2 acid sensing (proton gated) ion channel 2 [ Homo sapiens (human) ]". Retrieved 5 March 2015.

Further reading

This article is issued from Wikipedia - version of the Saturday, July 25, 2015. The text is available under the Creative Commons Attribution/Share Alike but additional terms may apply for the media files.