Aliases for ANO3 Gene
External Ids for ANO3 Gene
Previous HGNC Symbols for ANO3 Gene
Previous GeneCards Identifiers for ANO3 Gene
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]
GeneCards Summary for ANO3 Gene
ANO3 (Anoctamin 3) is a Protein Coding gene. Diseases associated with ANO3 include cranio-cervical dystonia with laryngeal and upper-limb involvement and dystonia 24. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Ion channel transport. GO annotations related to this gene include intracellular calcium activated chloride channel activity and phospholipid scramblase activity. An important paralog of this gene is ANO5.
UniProtKB/Swiss-Prot for ANO3 Gene
Has calcium-dependent phospholipid scramblase activity; scrambles phosphatidylcholine and galactosylceramide. Seems to act as potassium channel regulator and may inhibit pain signaling; can facilitate KCNT1/Slack channel activity by promoting its full single-channel conductance at very low sodium concentrations and by increasing its sodium sensitivity (By similarity). Does not exhibit calcium-activated chloride channel (CaCC) activity.