ANO10 Gene - Anoctamin 10
ANO10: A key regulator of calcium-activated chloride channels and its role in neurological disorders
Gene Information Card
| Symbol | ANO10 |
|---|---|
| Full Name | Anoctamin 10 |
| Gene Type | Protein coding |
| Chromosomal Location | 3p22.1 |
| NCBI Gene ID | 55129 ncbi.nlm.nih.gov/gene/55129 |
| Ensembl ID | ENSG00000151090 |
| UniProt ID | Q9NW15 |
| OMIM ID | 613726 |
| HGNC ID | 25519 |
| Aliases | TMEM16K, FLJ10377, anoctamin-10 |
Description
ANO10 (Anoctamin 10) 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. ANO10 is widely expressed, with highest levels in the brain, and is involved in regulating neuronal excitability and ion homeostasis. Mutations in ANO10 cause autosomal recessive spinocerebellar ataxia type 10 (SCAR10), a neurodegenerative disorder characterized by cerebellar atrophy and progressive ataxia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spinocerebellar ataxia, autosomal recessive 10 (SCAR10) | Loss-of-function mutations in ANO10 impair calcium-activated chloride channel activity, leading to cerebellar Purkinje cell dysfunction and degeneration. | ClinVar, OMIM |
| Cerebellar atrophy | Disruption of ANO10 function results in progressive cerebellar degeneration, as observed in SCAR10 patients. | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Cerebellum | 12.5 | High |
| Cerebral cortex | 8.3 | Medium |
| Heart | 6.1 | Medium |
| Liver | 2.4 | Low |
| Kidney | 3.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 10.2 | High expression |
| HeLa (cervical carcinoma) | 5.8 | Moderate expression |
| HEK293 (embryonic kidney) | 4.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.132dupA (p.Glu45Argfs*17) | Frameshift | Rare | Loss of function; associated with SCAR10 |
| c.1150C>T (p.Arg384*) | Nonsense | Rare | Premature stop; loss of function |
| c.1483C>T (p.Arg495Cys) | Missense | Rare | Impaired channel activity |
Mutation functional classification
Loss of Function (LOF)
Most ANO10 mutations are loss-of-function, leading to reduced or absent calcium-activated chloride channel activity, which underlies SCAR10.
Gain of Function (GOF)
No gain-of-function mutations have been reported for ANO10.
Dominant Negative (DN)
No dominant-negative mutations have been described for ANO10.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005227 - calcium-activated chloride channel activity | • GO:0016021 - integral component of membrane |
| • GO:0005886 - plasma membrane | • GO:0006811 - ion transport |
| • GO:0007268 - chemical synaptic transmission |
Pathways
• Calcium signaling pathway (Reactome: R-HSA-4086398)
• Chloride channel activity (KEGG: hsa04270)
Protein Summary
ANO10 is a 660-amino acid protein with eight transmembrane domains, belonging to the anoctamin family. It functions as a calcium-activated chloride channel, mediating chloride ion flux in response to intracellular calcium elevation. The protein is predominantly localized to the plasma membrane and is highly expressed in the cerebellum. ANO10 plays a critical role in maintaining neuronal chloride homeostasis and excitability. Loss-of-function mutations lead to autosomal recessive spinocerebellar ataxia type 10 (SCAR10), characterized by progressive cerebellar ataxia and atrophy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ANO10 Knockout HEK293 Cell Line | EDJ-KQ12385 | Human | 55129 | 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 |
Displaying Records 1 To 4 Of 4 Records
