gene: ASIC2
| id | 40 |
|---|---|
| symbol | ASIC2 |
| organism | Homo sapiens |
| full name | acid sensing ion channel subunit 2 |
| 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. [provided by RefSeq, Feb 2012] |
| variant-disease |
GRCh37/hg19 17q12(chr17:32063981-32064603)x3 AND not provided GRCh37/hg19 17q12(chr17:32063926-32065023)x3 AND not provided NM_001094.4(ASIC2):c.976C>A (p.His326Asn) AND Malignant tumor of prostate GRCh37/hg19 17q12(chr17:32064314-32643063)x3 AND See cases GRCh38/hg38 17q12(chr17:33777728-34301601)x3 AND See cases ... 18 more |
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