ASIC4: Acid Sensing Ion Channel 4
A proton-gated ion channel with emerging roles in neurological and sensory function
Gene Information Card
| Symbol | ASIC4 |
|---|---|
| Full Name | Acid Sensing Ion Channel 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q35 |
| NCBI Gene ID | 55515 ncbi.nlm.nih.gov/gene/55515 |
| Ensembl ID | ENSG00000172197 |
| UniProt ID | Q96FT7 |
| OMIM ID | 606715 |
| HGNC ID | HGNC:17188 |
| Aliases | ASIC4a, ASIC4b, BNAC4, ACCN4 |
Description
ASIC4 (Acid Sensing Ion Channel 4) encodes a member of the degenerin/epithelial sodium channel (DEG/ENaC) superfamily. The protein forms a proton-gated sodium channel that is primarily expressed in the nervous system. It is involved in neuronal signaling, pain perception, and mechanosensation. ASIC4 is thought to modulate synaptic transmission and may play a role in neurological disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Bipolar disorder | Potential association via altered neuronal excitability and pH sensing | ClinVar, OMIM |
| Schizophrenia | Genetic association studies suggest involvement in psychiatric phenotypes | ClinVar, OMIM |
| Migraine | Modulation of cortical spreading depression and pain pathways | NCBI Gene, literature |
| Epilepsy | Altered ion channel function may contribute to seizure susceptibility | ClinVar, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 2.1 | Low |
| Testis | 0.8 | Not detected |
| Spinal cord | 1.5 | Low |
| Pituitary gland | 1.2 | Low |
| Adrenal gland | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 0.3 | Neuroblastoma cell line |
| HEK293 | 0.1 | Embryonic kidney cells |
| U-87 MG | 0.2 | Glioblastoma cell line |
| H4 | 0.4 | Neuroglioma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | 0.001% | Unknown functional effect |
| c.457G>A (p.Gly153Ser) | Missense | 0.002% | Potential loss of function |
| c.1120A>G (p.Ile374Val) | Missense | 0.003% | Likely benign |
Mutation functional classification
Loss of Function (LOF)
p.Gly153Ser may reduce channel activity
Gain of Function (GOF)
No confirmed gain-of-function variants reported
Dominant Negative (DN)
Not described
View complete mutation data：
Gene Ontology (GO)
| • cation channel activity (GO:0005261) | • sodium channel activity (GO:0015271) |
| • plasma membrane (GO:0005886) | • sodium ion transport (GO:0006814) |
| • response to stimulus (GO:0050896) | • locomotory behavior (GO:0007626) |
Pathways
• Ion channel transport (Reactome: R-HSA-2672351)
• Neuronal system (Reactome: R-HSA-112316)
Protein Summary
ASIC4 is a 538-amino acid protein with two transmembrane domains, a large extracellular loop, and intracellular N- and C-termini. It forms homomeric or heteromeric proton-gated sodium channels. The protein is predominantly expressed in neurons, where it contributes to acid sensing and synaptic plasticity. Structural studies indicate a trimeric channel architecture. Post-translational modifications include glycosylation and phosphorylation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ASIC4 Knockout HEK293 Cell Line | EDJ-KQ12457 | Human | 55515 | Details Get a Quote |
| ASIC4 Knockout HeLa Cell Line | EDJ-KQ56594 | Human | 55515 | Details Get a Quote |
| ASIC4 Knockout A-549 Cell Line | EDJ-KQ65093 | Human | 55515 | Details Get a Quote |
| ASIC4 Knockout HCT 116 Cell Line | EDJ-KQ73540 | Human | 55515 | Details Get a Quote |
