ANO5
Anoctamin 5: A Calcium-Activated Chloride Channel Implicated in Muscular Dystrophy and Bone Dysplasia
Gene Information Card
| Symbol | ANO5 |
|---|---|
| Full Name | Anoctamin 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 11p14.3 |
| NCBI Gene ID | 203859 ncbi.nlm.nih.gov/gene/203859 |
| Ensembl ID | ENSG00000171714 |
| UniProt ID | Q75V66 |
| OMIM ID | 608662 |
| HGNC ID | 27337 |
| Aliases | GDD1, LGMD2L, MMD3, TMEM16E |
Description
ANO5 encodes anoctamin 5, a member of the anoctamin/TMEM16 family of calcium-activated chloride channels. The protein is involved in membrane trafficking and ion transport. Mutations in ANO5 cause limb-girdle muscular dystrophy type 2L (LGMD2L), Miyoshi muscular dystrophy 3 (MMD3), and gnathodiaphyseal dysplasia (GDD).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Limb-girdle muscular dystrophy type 2L (LGMD2L) | Loss of anoctamin 5 function disrupts calcium-activated chloride conductance in muscle, leading to progressive weakness and wasting. | ClinVar, OMIM |
| Miyoshi muscular dystrophy 3 (MMD3) | Similar loss-of-function mechanism affecting distal muscles, particularly calf muscles. | ClinVar, OMIM |
| Gnathodiaphyseal dysplasia (GDD) | Dominant or recessive ANO5 mutations impair bone remodeling, causing cemento-osseous lesions and diaphyseal sclerosis. | OMIM, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 12.5 | Medium |
| Heart | 8.2 | Medium |
| Bone | 6.1 | Low |
| Lung | 4.3 | Low |
| Kidney | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Skeletal muscle myoblasts | 15.0 | Highest expression in muscle lineage |
| Cardiomyocytes | 9.5 | Moderate expression |
| Osteoblasts | 5.8 | Relevant to GDD phenotype |
| Fibroblasts | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.191dupA (p.Asn64Lysfs*15) | Frameshift | Common in LGMD2L | Loss of function |
| c.2272C>T (p.Arg758Cys) | Missense | Rare | Loss of function |
| c.1477C>T (p.Arg493*) | Nonsense | Rare | Loss of function |
| c.1064G>A (p.Arg355His) | Missense | Associated with GDD | Dominant negative |
Mutation functional classification
Loss of Function (LOF)
Most ANO5 mutations in LGMD2L and MMD3 are loss-of-function (frameshift, nonsense, splice-site), leading to truncated or absent protein.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported for ANO5.
Dominant Negative (DN)
Missense mutations in GDD (e.g., p.Arg355His) may exert dominant-negative effects on channel function.
View complete mutation data：
Gene Ontology (GO)
| • Calcium-activated chloride channel activity (GO:0005227) | • Chloride transport (GO:0006821) |
| • Integral component of membrane (GO:0016021) | • Plasma membrane (GO:0005886) |
Pathways
• Calcium signaling pathway (KEGG: hsa04020)
• Chloride channel activity (Reactome: R-HSA-983712)
Protein Summary
Anoctamin 5 (ANO5) is a 913-amino acid transmembrane protein with eight predicted transmembrane domains. It functions as a calcium-activated chloride channel, regulating ion flux across membranes. The protein is highly expressed in skeletal muscle and bone, where it contributes to membrane repair and osteoblast function. Defects lead to muscular dystrophy or bone dysplasia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ANO5 Knockout HEK293 Cell Line | EDJ-KQ5682 | Human | 203859 | Details Get a Quote |
| ANO5 Knockout A-549 Cell Line | EDJ-KQ29035 | Human | 203859 | Details Get a Quote |
| ANO5 Knockout HCT 116 Cell Line | EDJ-KQ29036 | Human | 203859 | Details Get a Quote |
| ANO5 Knockout HeLa Cell Line | EDJ-KQ59051 | Human | 203859 | Details Get a Quote |
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