ANO3 Gene - Anoctamin 3
ANO3: Genetic Insights into Dystonia and Neurological Disorders
Gene Information Card
| Symbol | ANO3 |
|---|---|
| Full Name | anoctamin 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 11p14.2 |
| NCBI Gene ID | 63976 ncbi.nlm.nih.gov/gene/63976 |
| Ensembl ID | ENSG00000134343 |
| UniProt ID | Q9BYT9 |
| OMIM ID | 610110 |
| HGNC ID | 14004 |
| Aliases | TMEM16C, DYT24 |
Description
ANO3 (anoctamin 3) encodes a member of the anoctamin family of calcium-activated chloride channels. The protein is predominantly expressed in the brain, particularly in the striatum and cerebellum, and is involved in neuronal excitability and synaptic transmission. Mutations in ANO3 are associated with autosomal dominant dystonia 24 (DYT24), a movement disorder characterized by tremulous, often cervical or laryngeal dystonia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Dystonia 24 (DYT24) | Missense mutations in ANO3 alter calcium-activated chloride channel function, leading to abnormal neuronal firing and dystonic movements. | ClinVar, OMIM |
| Cervical Dystonia | Specific ANO3 variants (e.g., p.Arg202Trp) impair channel gating, contributing to focal dystonia. | ClinVar, PubMed |
| Laryngeal Dystonia | ANO3 mutations disrupt chloride conductance in laryngeal motor neurons, causing spasmodic dysphonia. | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Cerebellum | 18.3 | High |
| Cerebral Cortex | 10.1 | Medium |
| Striatum | 15.7 | High |
| Testis | 3.2 | Low |
| Heart | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 8.4 | Neuronal model |
| U-87 MG (glioblastoma) | 6.2 | Glial cell line |
| HEK 293 (embryonic kidney) | 2.1 | Low endogenous expression |
| H4 (neuroglioma) | 5.9 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.604C>T (p.Arg202Trp) | Missense | Rare | Impaired calcium-activated chloride conductance; associated with DYT24 |
| c.1480G>A (p.Gly494Ser) | Missense | Rare | Altered channel kinetics; reported in cervical dystonia |
| c.2065G>A (p.Glu689Lys) | Missense | Rare | Reduced chloride current; linked to laryngeal dystonia |
| c.2422G>A (p.Gly808Arg) | Missense | Rare | Loss of channel function; pathogenic in dystonia |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Gly808Arg) reduce or abolish calcium-activated chloride currents, leading to neuronal hyperexcitability.
Gain of Function (GOF)
No clear gain-of-function mutations reported in ANO3; current evidence supports loss-of-function or altered gating.
Dominant Negative (DN)
Some ANO3 mutations (e.g., p.Arg202Trp) may exert dominant-negative effects by disrupting channel assembly or function in heterozygous state.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005227 - calcium-activated chloride channel activity | • GO:0015267 - channel activity |
| • GO:0005886 - plasma membrane | • GO:0016021 - integral component of membrane |
| • GO:0006811 - ion transport | • GO:0006821 - chloride transport |
| • GO:0007268 - chemical synaptic transmission | • GO:0050804 - modulation of chemical synaptic transmission |
Pathways
• Calcium-activated chloride channel signaling
• Neuronal ion transport and excitability
Protein Summary
Anoctamin 3 (ANO3) is a 10-transmembrane domain protein that functions as a calcium-activated chloride channel. It is highly expressed in the brain, especially in the striatum and cerebellum, where it regulates neuronal excitability and synaptic transmission. Mutations in ANO3 cause dystonia 24 (DYT24), a form of isolated dystonia. The protein is also known as TMEM16C.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ANO3 Knockout HEK293 Cell Line | EDJ-KQ12382 | Human | 63982 | Details Get a Quote |
| ANO3 Knockout HeLa Cell Line | EDJ-KQ57011 | Human | 63982 | Details Get a Quote |
| ANO3 Knockout A-549 Cell Line | EDJ-KQ65516 | Human | 63982 | Details Get a Quote |
| ANO3 Knockout HCT 116 Cell Line | EDJ-KQ73952 | Human | 63982 | Details Get a Quote |
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