ANO3 anoctamin 3
Gene ID: 63982, updated on 3-Nov-2024Gene type: protein coding
Also known as: DYT23; DYT24; TMEM16C; C11orf25; GENX-3947
- See all available tests in GTR for this gene
- Go to complete Gene record for ANO3
- Go to Variation Viewer for ANO3 variants
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Common body mass index-associated variants confer risk of extreme obesity. GeneReviews: Not available | |
| Common variants associated with general and MMR vaccine-related febrile seizures. GeneReviews: Not available | |
| Dystonia 24 | See labs |
Genomic context
- Location:
- 11p14.3-p14.2
- Sequence:
- Chromosome: 11; NC_000011.10 (26188808..26663289)
- Total number of exons:
- 33
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ANO3 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.