Identity
HGNC
LOCATION
11p14.2
LOCUSID
ALIAS
C11orf25,DYT23,DYT24,GENX-3947,TMEM16C
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 63982
MIM: 610110
HGNC: 14004
Ensembl: ENSG00000134343
Variants:
dbSNP: 63982
ClinVar: 63982
TCGA: ENSG00000134343
COSMIC: ANO3
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000134343 | ENST00000256737 | Q9BYT9 |
| ENSG00000134343 | ENST00000525139 | E9PQ79 |
| ENSG00000134343 | ENST00000531568 | Q9BYT9 |
| ENSG00000134343 | ENST00000531646 | E9PKW2 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Transmembrane transport of small molecules | REACTOME | R-HSA-382551 |
| Ion channel transport | REACTOME | R-HSA-983712 |
| Stimuli-sensing channels | REACTOME | R-HSA-2672351 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38079528 | 2024 | Broadening the clinical spectrum: molecular mechanisms and new phenotypes of ANO3-dystonia. | 1 |
| 38284143 | 2024 | The Clinical Spectrum of ANO3-Report of a New Family and Literature Review. | 0 |
| 38079528 | 2024 | Broadening the clinical spectrum: molecular mechanisms and new phenotypes of ANO3-dystonia. | 1 |
| 38284143 | 2024 | The Clinical Spectrum of ANO3-Report of a New Family and Literature Review. | 0 |
| 37116293 | 2023 | A novel ANO3 variant in two siblings with different phenotypes. | 1 |
| 37116293 | 2023 | A novel ANO3 variant in two siblings with different phenotypes. | 1 |
| 33388357 | 2021 | The expanding clinical and genetic spectrum of ANO3 dystonia. | 3 |
| 33388357 | 2021 | The expanding clinical and genetic spectrum of ANO3 dystonia. | 3 |
| 30712998 | 2019 | Role of ANO3 mutations in dystonia: A large-scale mutational screening study. | 4 |
| 30712998 | 2019 | Role of ANO3 mutations in dystonia: A large-scale mutational screening study. | 4 |
| 27666935 | 2017 | Clinical exome sequencing in early-onset generalized dystonia and large-scale resequencing follow-up. | 33 |
| 27666935 | 2017 | Clinical exome sequencing in early-onset generalized dystonia and large-scale resequencing follow-up. | 33 |
| 27392807 | 2016 | Novel heterozygous mutation in ANO3 responsible for craniocervical dystonia. | 7 |
| 27881096 | 2016 | A step toward essential tremor gene discovery: identification of extreme phenotype and screening of HTRA2 and ANO3. | 3 |
| 27392807 | 2016 | Novel heterozygous mutation in ANO3 responsible for craniocervical dystonia. | 7 |
Citation
Dessen P
ANO3 (anoctamin 3)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/60377/ano3-(anoctamin-3)
