Ano5 - anoctamin 5 Gene
Also Known as Gdd1; Tmem16e; 9330162L24
Species: Mus musculus
Summary
This gene encodes a member of the anoctamin family, which in mammals is comprised of 10 members. Anoctamin proteins are proposed to have eight transmembrane domains with both termini facing the cytoplasm and a C-terminal domain of unknown function. While some members have been characterized as calcium-activated chloride channels, this protein is reported to have little anion conductance activity. Elevated levels of this protein were found in dystrophic mice. In humans, mutations of this gene are associated with with musculoskeletal disorders such as myopathies, muscular dystrophy and gnathodiaphyseal dysplasia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]
Ano5 Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_001271879.1 | NP_001258808.1 | anoctamin-5 isoform 2 |
| NM_177694.6 | NP_808362.2 | anoctamin-5 isoform 1 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| NOT enables intracellularly calcium-gated chloride channel activity |
IDA
IDA: Inferred from direct assay
|
23532839 | MGI |
| NOT enables phospholipid scramblase activity |
IDA
IDA: Inferred from direct assay
|
23532839 | MGI |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in vesicle |
IDA
IDA: Inferred from direct assay
|
17418107 | MGI |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
anoctamin-5 |
|
|