Aliases for ASIC3 Gene
External Ids for ASIC3 Gene
Previous HGNC Symbols for ASIC3 Gene
Previous GeneCards Identifiers for ASIC3 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, two hydrophobic transmembrane regions, and a large extracellular loop, which has many cysteine residues with conserved spacing. The member encoded by this gene is an acid sensor and may play an important role in the detection of lasting pH changes. In addition, a heteromeric association between this member and acid-sensing (proton-gated) ion channel 2 has been observed as proton-gated channels sensitive to gadolinium. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2012]
GeneCards Summary for ASIC3 Gene
ASIC3 (Acid Sensing Ion Channel Subunit 3) is a Protein Coding gene. Diseases associated with ASIC3 include Frozen Shoulder and Deafness, Autosomal Recessive 13. Among its related pathways are CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF) and Development Endothelin-1/EDNRA signaling. Gene Ontology (GO) annotations related to this gene include PDZ domain binding and sodium channel activity. An important paralog of this gene is ASIC1.
UniProtKB/Swiss-Prot for ASIC3 Gene
Cation channel with high affinity for sodium, which is gated by extracellular protons and inhibited by the diuretic amiloride. Generates a biphasic current with a fast inactivating and a slow sustained phase. In sensory neurons is proposed to mediate the pain induced by acidosis that occurs in ischemic, damaged or inflamed tissue. May be involved in hyperalgesia. May play a role in mechanoreception. Heteromeric channel assembly seems to modulate channel properties.
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.