ASIC5: Acid Sensing Ion Channel 5
A proton-gated sodium channel involved in neuronal signaling and potential roles in cancer and neurological disorders.
Gene Information Card
| Symbol | ASIC5 |
|---|---|
| Full Name | Acid Sensing Ion Channel 5 |
| Gene Type | protein-coding |
| Chromosomal Location | 4q31.3 |
| NCBI Gene ID | 51802 ncbi.nlm.nih.gov/gene/51802 |
| Ensembl ID | ENSG00000138684 |
| UniProt ID | Q9NY72 |
| OMIM ID | 611759 |
| HGNC ID | HGNC:17166 |
| Aliases | ACCN5, ASIC5, hASIC5, brain sodium channel 5 |
Description
ASIC5 (Acid Sensing Ion Channel 5) encodes a member of the degenerin/epithelial sodium channel (DEG/ENaC) superfamily. The protein forms a proton-gated sodium channel that is activated by extracellular acidification. It is primarily expressed in the nervous system and is involved in sensory perception, pain modulation, and synaptic plasticity. ASIC5 has also been implicated in cancer cell migration and proliferation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Pain disorders | Dysregulation of proton-gated sodium channels alters nociceptor excitability | ClinVar, PubMed |
| Epilepsy | Altered ASIC5 expression may contribute to neuronal hyperexcitability | ClinVar, PubMed |
| Cancer (e.g., glioblastoma) | ASIC5 overexpression promotes tumor cell migration and invasion via pH sensing | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Spinal cord | 8.3 | Low |
| Testis | 6.1 | Low |
| Lung | 2.4 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | High expression |
| U87 (glioblastoma) | 10.8 | Moderate expression |
| HEK293 (embryonic kidney) | 1.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | 0.001% (gnomAD) | Reduced proton sensitivity |
| c.1234G>A (p.Val412Met) | Missense | 0.002% (gnomAD) | Altered channel kinetics |
| c.1456_1457del (p.Leu486fs) | Frameshift | <0.001% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein or disrupt the pore region lead to loss of sodium conductance.
Gain of Function (GOF)
Missense mutations that increase proton sensitivity or open probability (e.g., near the pH sensor) may enhance channel activity.
Dominant Negative (DN)
Truncated subunits can co-assemble with wild-type subunits and impair channel function.
View complete mutation data：
Gene Ontology (GO)
| • sodium channel activity (GO:0005272) | • outward rectifier potassium channel activity (GO:0015271) |
| • plasma membrane (GO:0005886) | • sodium ion transport (GO:0006814) |
| • response to stimulus (GO:0050896) | • locomotory behavior (GO:0007626) |
Pathways
• Proton-gated sodium channel signaling
• Sensory perception of pain
• pH sensing and cellular response to acidosis
Protein Summary
ASIC5 is a 512-amino acid transmembrane protein that forms a homotrimeric or heterotrimeric proton-gated sodium channel. It contains two transmembrane domains, a large extracellular loop with a pH-sensing domain, and intracellular N- and C-termini. The channel is activated by extracellular acidification (pH < 6.5) and mediates rapid sodium influx, leading to membrane depolarization. It is highly expressed in the brain and spinal cord, where it modulates neuronal excitability and pain signaling. Mutations in ASIC5 are associated with altered pain perception and have been identified in cancer tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ASIC5 Knockout HEK293 Cell Line | EDJ-KQ11222 | Human | 51802 | Details Get a Quote |
| ASIC5 Knockout HeLa Cell Line | EDJ-KQ56361 | Human | 51802 | Details Get a Quote |
| ASIC5 Knockout A-549 Cell Line | EDJ-KQ64851 | Human | 51802 | Details Get a Quote |
| ASIC5 Knockout HCT 116 Cell Line | EDJ-KQ73295 | Human | 51802 | Details Get a Quote |
