ANO9
Anoctamin 9: A Calcium-Activated Chloride Channel Regulator with Emerging Roles in Cancer and Epithelial Function
Gene Information Card
| Symbol | ANO9 |
|---|---|
| Full Name | anoctamin 9 |
| Gene Type | protein-coding |
| Chromosomal Location | 11p15.2 |
| NCBI Gene ID | 116496 ncbi.nlm.nih.gov/gene/116496 |
| Ensembl ID | ENSG00000180438 |
| UniProt ID | Q5T0Z9 |
| OMIM ID | 616308 |
| HGNC ID | 20610 |
| Aliases | TMEM16J, ANO9 |
Description
ANO9 (anoctamin 9), also known as TMEM16J, is a member of the anoctamin family of calcium-activated chloride channels. The gene is located on chromosome 11p15.2 and encodes a protein involved in ion transport, cell proliferation, and epithelial function. ANO9 is expressed in various tissues, including the gastrointestinal tract, and has been implicated in cancer progression, particularly in colorectal and pancreatic cancers. Its expression is regulated by promoter methylation and may serve as a biomarker or therapeutic target.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal Cancer | Altered ANO9 expression affects cell proliferation and migration; potential tumor suppressor role | PMID: 31604806 |
| Pancreatic Cancer | Downregulation of ANO9 correlates with poor prognosis; may regulate epithelial-mesenchymal transition | PMID: 31591470 |
| Gastric Cancer | Reduced ANO9 expression associated with tumor progression and metastasis | PMID: 32015547 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Colon | 12.5 | Medium |
| Small Intestine | 10.2 | Medium |
| Stomach | 8.9 | Medium |
| Pancreas | 6.3 | Low |
| Liver | 3.1 | Low |
| Lung | 2.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Caco-2 (Colorectal) | 15.0 | High expression |
| HCT 116 (Colorectal) | 12.3 | Moderate expression |
| PANC-1 (Pancreatic) | 4.5 | Low expression |
| MIA PaCa-2 (Pancreatic) | 3.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1018C>T (p.Arg340Cys) | Missense | <0.1% | Unknown functional effect |
| c.1246G>A (p.Gly416Ser) | Missense | <0.1% | Reported in COSMIC; potential loss of function |
| c.1573_1574insA | Frameshift | <0.1% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations are predicted to cause loss of function; missense variants may impair channel activity.
Gain of Function (GOF)
No gain-of-function mutations have been reported for ANO9.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for ANO9.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005229 (intracellular calcium-activated chloride channel activity) | • GO:0016021 (integral component of membrane) |
| • GO:0006811 (ion transport) | • GO:0008283 (cell proliferation) |
| • GO:0043065 (positive regulation of apoptotic process) |
Pathways
• Calcium signaling pathway (KEGG: hsa04020)
• Chloride channel activity (Reactome: R-HSA-983712)
Protein Summary
The ANO9 protein (UniProt Q5T0Z9) is a 914-amino acid multi-pass membrane protein belonging to the anoctamin family. It functions as a calcium-activated chloride channel, regulating ion flux across cell membranes. ANO9 is involved in cell proliferation, migration, and apoptosis. Its expression is frequently downregulated in cancers, suggesting a tumor-suppressive role. The protein is localized to the plasma membrane and endoplasmic reticulum.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ANO9 Knockout HEK293 Cell Line | EDJ-KQ12384 | Human | 338440 | Details Get a Quote |
| ANO9 Knockout HCT 116 Cell Line | EDJ-KQ39991 | Human | 338440 | Details Get a Quote |
| ANO9 Knockout HeLa Cell Line | EDJ-KQ59611 | Human | 338440 | Details Get a Quote |
| ANO9 Knockout A-549 Cell Line | EDJ-KQ68076 | Human | 338440 | Details Get a Quote |
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