Aliases for ASIC2 Gene
External Ids for ASIC2 Gene
Previous HGNC Symbols for ASIC2 Gene
Previous GeneCards Identifiers for ASIC2 Gene
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]
GeneCards Summary for ASIC2 Gene
ASIC2 (Acid Sensing Ion Channel Subunit 2) is a Protein Coding gene. Diseases associated with ASIC2 include Frozen Shoulder and Chromosome 17Q11.2 Deletion Syndrome, 1.4-Mb. Among its related pathways are Ion channel transport and Development Endothelin-1/EDNRA signaling. GO annotations related to this gene include ion channel activity and voltage-gated sodium channel activity. An important paralog of this gene is ASIC1.
UniProtKB/Swiss-Prot for ASIC2 Gene
Cation channel with high affinity for sodium, which is gated by extracellular protons and inhibited by the diuretic amiloride. Also permeable for Li(+) and K(+). Generates a biphasic current with a fast inactivating and a slow sustained phase. Heteromeric channel assembly seems to modulate.
Acid-sensing ion channels (ASIC) are members of the ENaC/Deg (epithelial amiloride-sensitive Na+ channel and degenerin) family of ion channels and are widely expressed in neurons of the central and peripheral nervous system.