Gene: LOC107985038

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

Gene: ASIC2

Alternate names for this Gene: 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 acid-sensing (proton-gated) ion channel 3 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.

Gene is located in Chromosome: 17

Location in Chromosome : 17q11.2-q12

Description of this Gene: acid sensing ion channel subunit 2

Type of Gene: protein-coding

rs117364231 in LOC107985038;ASIC2 gene and Electrocardiogram: P-R interval PMID 24324551 2013 Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.

rs9907580 in LOC107985038;ASIC2 gene and Narcolepsy PMID 19629137 2009 Genome-wide association database developed in the Japanese Integrated Database Project.