ANO3, Official Symbol ANO3provided by HGNC Official Full Name anoctamin 3provided by HGNC Primary source HGNC:HGNC:14004 See related Ensembl:ENSG00000134343 MIM:610110; AllianceGenome:HGNC:14004 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DYT23; DYT24; TMEM16C; C11orf25; GENX-3947 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. [provided by RefSeq, Aug 2015] Expression Biased expression in brain (RPKM 4.4), fat (RPKM 2.2) and 7 other tissues See more Orthologs mouse all