ANO5

Chr 11ADAR

anoctamin 5

Also known as: GDD1, LGMD2L, LGMDR12, TMEM16E

NCBI Gene: 203859 ENSG00000171714 UniProt: Q75V66 OMIM: 608662

The protein functions in plasma membrane repair through interaction with annexins and localizes to the endoplasmic reticulum membrane. Mutations cause autosomal recessive limb-girdle muscular dystrophy type 12 and Miyoshi muscular dystrophy 3, as well as autosomal dominant gnathodiaphyseal dysplasia through a predicted gain-of-function mechanism. The muscular dystrophies result from impaired membrane repair, while the bone dysplasia represents a distinct dominant phenotype.

OMIM ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

This gene encodes a member of the anoctamin family of transmembrane proteins. The encoded protein is likely a calcium activated chloride channel. Mutations in this gene have been associated with gnathodiaphyseal dysplasia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2009]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Gnathodiaphyseal dysplasiaMIM #166260

Miyoshi muscular dystrophy 3MIM #613319

Muscular dystrophy, limb-girdle, autosomal recessive 12MIM #611307

Clinical highlights

Gene-disease validity (ClinGen)

gnathodiaphyseal dysplasia · ADDefinitivesufficient evidence for diagnostic panels2 gene-disease associations curated in total

Interpreting a novel variant

Gain of function is the curated mechanism (Gene2Phenotype), so a variant that simply removes the protein may not be the pathogenic class here — missense variants in functional domains often carry more weight.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.95

LOEUF

GOF

Mechanism· G2P