Ano5 Gene Summary [Mouse]

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]

Details

Type
Protein Coding
Official Symbol
Ano5
Official Name
anoctamin 5 [Source:MGI Symbol;Acc:MGI:3576659]
Ensembl ID
ENSMUSG00000055489
Bio databases IDs NCBI: 233246 Ensembl: ENSMUSG00000055489
Aliases anoctamin 5
Synonyms 9330162L24, anoctamin 5, GDD1, LGMD2L, LGMDR12, RGD1564265, TMEM16E
Species
Mouse, Mus musculus
OrthologiesRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Ano5 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Calcium-activated chloride channel
  • dimerization domain of Ca+-activated chloride-channel, anoctamin
  • chloride channel
  • intracellular calcium activated chloride channel
  • ion channel

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • Parkinson disease
  • limb-girdle muscular dystrophy type 2L
  • gnathodiaphyseal dysplasia
  • Miyoshi muscular dystrophy type 3
  • schizophrenia
  • limb-girdle muscular dystrophy type 2
  • muscular dystrophy
  • plasma cell myeloma
  • pruritus
  • ANO5-related disorder
regulated by
regulates
role in cell
  • motility
  • repair
  • repair in

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Plasma Membrane
  • cellular membrane
  • vesicles
  • Endoplasmic Reticulum

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the mouse Ano5 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • plasma membrane repair
  • ion transmembrane transport

Cellular Component

Where in the cell the gene product is active
  • endoplasmic reticulum membrane
  • vesicle
  • plasma membrane

Molecular Function

What the gene product does at the molecular level
  • intracellular calcium activated chloride channel activity
  • protein dimerization activity
  • chloride channel activity

Gene-Specific Assays for Results You Can Trust

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