ANO1
Anoctamin 1, Calcium-Activated Chloride Channel
Gene Information Card
| Symbol | ANO1 |
|---|---|
| Full Name | anoctamin 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 11q13.3 |
| NCBI Gene ID | 55107 ncbi.nlm.nih.gov/gene/55107 |
| Ensembl ID | ENSG00000131620 |
| UniProt ID | Q5XXA6 |
| OMIM ID | 610108 |
| HGNC ID | 20825 |
| Aliases | TMEM16A, ORAOV2, TAOS2 |
Description
ANO1 encodes a calcium-activated chloride channel (CaCC) that plays a critical role in epithelial fluid secretion, smooth muscle contraction, and cell proliferation. It is widely expressed in various tissues and is implicated in cancer, gastrointestinal motility disorders, and hypertension.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Gastrointestinal stromal tumor (GIST) | ANO1 overexpression promotes tumor cell proliferation and survival | PMID: 24651015 |
| Hypertension | Increased ANO1 activity in vascular smooth muscle contributes to enhanced vasoconstriction | PMID: 25605920 |
| Cystic fibrosis | Dysregulated chloride transport via ANO1 may affect airway surface liquid homeostasis | PMID: 22956769 |
| Oral squamous cell carcinoma | Gene amplification at 11q13 leads to ANO1 overexpression and oncogenic signaling | PMID: 16959974 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Salivary gland | 78.5 | High |
| Gallbladder | 65.2 | High |
| Prostate | 45.1 | Medium |
| Lung | 30.8 | Medium |
| Heart | 12.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A-431 (epidermoid carcinoma) | 89.3 | High expression |
| HPAF-II (pancreatic adenocarcinoma) | 72.1 | High expression |
| HEK 293 (embryonic kidney) | 5.2 | Low endogenous expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2066G>A (p.Arg689His) | Missense | <0.01% | Altered channel gating; gain-of-function |
| c.1489C>T (p.Arg497Trp) | Missense | <0.01% | Reduced chloride conductance; loss-of-function |
| c.2377G>A (p.Val793Met) | Missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Mutations such as p.Arg497Trp reduce chloride ion conductance, impairing epithelial fluid secretion.
Gain of Function (GOF)
Mutations such as p.Arg689His enhance channel activity, contributing to smooth muscle hypercontractility.
Dominant Negative (DN)
No dominant-negative mutations have been reported for ANO1.
View complete mutation data：
Gene Ontology (GO)
| • intracellular calcium-activated chloride channel activity (GO:0005229) | • apical plasma membrane (GO:0016324) |
| • ion transport (GO:0006811) | • plasma membrane (GO:0005886) |
Pathways
• Calcium signaling pathway (KEGG: hsa04020)
• Chloride channel activity (Reactome: R-HSA-2672351)
Protein Summary
ANO1 is a 986-amino acid transmembrane protein with eight transmembrane domains. It functions as a calcium-activated chloride channel, mediating chloride ion efflux in response to intracellular calcium elevation. The protein is essential for epithelial secretion, neuronal excitability, and smooth muscle contraction. Its overexpression is a hallmark of several cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ANO1 Knockout HEK293 Cell Line | EDJ-KQ2881 | Human | 55107 | Details Get a Quote |
| ANO10 Knockout HEK293 Cell Line | EDJ-KQ12385 | Human | 55129 | Details Get a Quote |
| PANO1 Knockout HEK293 Cell Line | EDJ-KQ14672 | Human | 101927423 | Details Get a Quote |
| ANO10 Knockout A-549 Cell Line | EDJ-KQ41251 | Human | 55129 | Details Get a Quote |
| ANO10 Knockout HCT 116 Cell Line | EDJ-KQ41252 | Human | 55129 | Details Get a Quote |
| ANO10 Knockout HeLa Cell Line | EDJ-KQ41253 | Human | 55129 | Details Get a Quote |
| ANO1 Knockout A-549 Cell Line | EDJ-KQ25313 | Human | 55107 | Details Get a Quote |
| ANO1 Knockout HCT 116 Cell Line | EDJ-KQ25315 | Human | 55107 | Details Get a Quote |
| PANO1 Knockout HeLa Cell Line | EDJ-KQ43741 | Human | 101927423 | Details Get a Quote |
| PANO1 Knockout A-549 Cell Line | EDJ-KQ44960 | Human | 101927423 | Details Get a Quote |
| PANO1 Knockout HCT 116 Cell Line | EDJ-KQ44961 | Human | 101927423 | Details Get a Quote |
| ANO1 Knockout HeLa Cell Line | EDJ-KQ56539 | Human | 55107 | Details Get a Quote |
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