ANO4 (Anoctamin 4)
Calcium-activated chloride channel regulator
Gene Information Card
| Symbol | ANO4 |
|---|---|
| Full Name | Anoctamin 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q23.1 |
| NCBI Gene ID | 286521 ncbi.nlm.nih.gov/gene/286521 |
| Ensembl ID | ENSG00000151552 |
| UniProt ID | Q5XXA6 |
| OMIM ID | 610111 |
| HGNC ID | 28325 |
| Aliases | TMEM16D, FLJ34204 |
Description
ANO4 (Anoctamin 4) encodes a member of the anoctamin family of calcium-activated chloride channels. The protein is predicted to have eight transmembrane domains and functions as a calcium-activated chloride channel regulator. ANO4 is involved in ion transport and may play a role in epithelial fluid secretion, neuronal excitability, and smooth muscle contraction.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual disability | Potential role in neuronal calcium signaling; variants may disrupt channel function | ClinVar; limited case reports |
| Epilepsy | Altered chloride homeostasis affecting neuronal excitability | ClinVar; rare variant association |
| Cancer (colorectal) | Dysregulated expression may contribute to tumor progression | COSMIC; expression studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebellum) | 12.5 | Medium |
| Brain (cortex) | 10.2 | Medium |
| Testis | 8.9 | Medium |
| Lung | 6.3 | Low |
| Colon | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.3 | Neuronal model |
| HEK293 (embryonic kidney) | 8.7 | Common expression system |
| HCT116 (colorectal carcinoma) | 6.2 | Colorectal cancer line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | <0.01% | Potential loss of function; associated with intellectual disability |
| c.567G>A (p.Val189Met) | Missense | <0.01% | Unknown significance; reported in epilepsy |
| c.2345_2346insA | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense and frameshift variants that disrupt channel activity or protein stability.
Gain of Function (GOF)
Not reported in ANO4.
Dominant Negative (DN)
Not reported in ANO4.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005227 (calcium-activated chloride channel activity) | • GO:0016021 (integral component of membrane) |
| • GO:0006811 (ion transport) | • GO:0055085 (transmembrane transport) |
Pathways
• Calcium signaling pathway (KEGG: hsa04020)
• Chloride channel activity (Reactome: R-HSA-983712)
Protein Summary
ANO4 is a 903-amino acid protein with eight transmembrane domains, belonging to the anoctamin family. It functions as a calcium-activated chloride channel regulator, mediating chloride ion flux in response to intracellular calcium elevation. The protein is expressed in brain, testis, and lung, and is implicated in neuronal excitability and epithelial secretion.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ANO4 Knockout HEK293 Cell Line | EDJ-KQ8082 | Human | 121601 | Details Get a Quote |
| ANO4 Knockout HCT 116 Cell Line | EDJ-KQ33924 | Human | 121601 | Details Get a Quote |
| ANO4 Knockout HeLa Cell Line | EDJ-KQ33925 | Human | 121601 | Details Get a Quote |
| ANO4 Knockout A-549 Cell Line | EDJ-KQ66577 | Human | 121601 | Details Get a Quote |
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