ASIC2: Acid-Sensing Ion Channel 2
A proton-gated sodium channel involved in sensory perception and neuronal signaling
Gene Information Card
| Symbol | ASIC2 |
|---|---|
| Full Name | Acid Sensing Ion Channel Subunit 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q11.2 |
| NCBI Gene ID | 40 ncbi.nlm.nih.gov/gene/40 |
| Ensembl ID | ENSG00000108684 |
| UniProt ID | Q16515 |
| OMIM ID | 601784 |
| HGNC ID | 746 |
| Aliases | ACCN, BNaC1, MDEG, ASIC2a, ASIC2b |
Description
ASIC2 encodes a member of the acid-sensing ion channel (ASIC) family, which are proton-gated sodium channels. The protein forms homotrimeric or heterotrimeric channels that are activated by extracellular acidification. ASIC2 is widely expressed in the nervous system and contributes to sensory perception, pain transduction, mechanosensation, and neuronal plasticity. Alternative splicing generates multiple isoforms.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neuropathic pain | ASIC2 contributes to acid-induced pain signaling in sensory neurons; altered expression modulates pain sensitivity. | PMID: 17928401 |
| Ischemic stroke | Acidosis during ischemia activates ASIC2, contributing to neuronal injury. | PMID: 15247418 |
| Epilepsy | ASIC2 modulates neuronal excitability; dysregulation may influence seizure susceptibility. | PMID: 20096329 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Spinal cord | 8.3 | Medium |
| Testis | 6.1 | Low |
| Lung | 4.2 | Low |
| Heart | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 5.0 | Neuroblastoma cell line |
| HEK293 | 2.1 | Low endogenous expression |
| PC12 | 7.4 | Rat pheochromocytoma line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.145G>A (p.Gly49Ser) | Missense | <0.01% | Altered channel gating; gain-of-function in vitro |
| c.430C>T (p.Arg144Cys) | Missense | <0.01% | Reduced proton sensitivity; loss-of-function |
Mutation functional classification
Loss of Function (LOF)
p.Arg144Cys reduces channel activation by protons.
Gain of Function (GOF)
p.Gly49Ser increases channel open probability.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • sodium channel activity (GO:0005262) | • outward rectifier potassium channel activity (GO:0015271) |
| • plasma membrane (GO:0005886) | • ion transmembrane transport (GO:0034220) |
| • response to stimulus (GO:0050896) | • sodium ion transport (GO:0006814) |
Pathways
• Acid-sensing ion channel (ASIC) pathway
• Pain signaling (nociception)
• Ion channel transport
Protein Summary
ASIC2 is a 512-amino acid transmembrane protein with two transmembrane domains, a large extracellular loop containing proton-binding sites, and intracellular N- and C-termini. It assembles into trimeric channels that conduct Na+ ions upon extracellular acidification. The protein is involved in synaptic transmission, mechanotransduction, and acid-evoked currents in sensory neurons.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ASIC2 Knockout HEK293 Cell Line | EDJ-KQ3995 | Human | 40 | Details Get a Quote |
| ASIC2 Knockout A-549 Cell Line | EDJ-KQ26317 | Human | 40 | Details Get a Quote |
| ASIC2 Knockout HeLa Cell Line | EDJ-KQ52534 | Human | 40 | Details Get a Quote |
| ASIC2 Knockout HCT 116 Cell Line | EDJ-KQ69492 | Human | 40 | Details Get a Quote |
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