Entrez gene ID | | 40 |
Official gene symbol | | ASIC2 |
Full name | | amiloride-sensitive cation channel 1, neuronal |
Aliases | | ,ACCN,ACCN1,ASIC2a,BNC1,BNaC1,MDEG,hBNaC1, |
Gene summary | | 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. [provided by RefSeq] |
Location | | Chromosome: 17 Locus: 17q12 |
Gene position | | 32483825 - 31340105 Map Viewer |
Gene orientation | | minus |
Gene size | | 1143721 bp |
Gene sequence |
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OMIM ID | | 601784 |
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