Tbio ANO3 Anoctamin-3

Protein Summary

Description

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. 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]

Uniprot Accession IDs

• Q9BYT9
• B7Z3F5

Gene Name

• ANO3

Ensembl ID

• ENST00000256737
• ENSP00000256737
• ENSG00000134343
• ENST00000531568
• ENSP00000432394

Symbol

• C11orf25
• TMEM16C
• DYT23
• DYT24
• TMEM16C
• C11orf25
• GENX-3947

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
trait	0.99
gene perturbation	0.74
molecular function	0.73
microRNA	0.66
transcription factor perturbation	0.54

Protein Classes

No PANTHER Classes or DTO Classes found

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 56.86   (req: < 5)

Gene RIFs: 15   (req: <= 3)

Antibodies: 103   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 56.86   (req: >= 5)

Gene RIFs: 15   (req: > 3)

Antibodies: 103   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 8

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0