Gene: ANO3

Alternate names for this Gene: C11orf25|DYT23|DYT24|GENX-3947|TMEM16C

Gene Summary: The protein encoded by this gene belongs to the TMEM16 family of predicted membrane proteins, that are also known as anoctamins. While little is known about the function of this gene, mutations in this gene have been associated with some cases of autosomal dominant craniocervical dystonia. Cells from individuals with a mutation in this gene exhibited abnormalities in endoplasmic reticulum-dependent calcium signaling. Studies in rat show that the rat ortholog of this protein interacts with, and modulates the activity of a sodium-activated potassium channel. Deletion of this gene caused increased pain sensitivity in the rat model system. Alternative splicing results in multiple transcript variants encoding different isoforms.

Gene is located in Chromosome: 11

Location in Chromosome : 11p14.3-p14.2

Description of this Gene: anoctamin 3

Type of Gene: protein-coding

rs117556552 in ANO3 gene and Alzheimer's Disease PMID 29274321 2018 Genome-wide association study of Alzheimer's disease endophenotypes at prediagnosis stages.

rs587776923 in ANO3 gene and DYSTONIA 24 PMID 23200863 2012 Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis.

rs293942 in ANO3 gene and Narcolepsy PMID 19629137 2009 Genome-wide association database developed in the Japanese Integrated Database Project.