Identity
HGNC
LOCATION
3p22.1
LOCUSID
ALIAS
SCAR10,TMEM16K
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: 55129
MIM: 613726
HGNC: 25519
Ensembl: ENSG00000160746
Variants:
dbSNP: 55129
ClinVar: 55129
TCGA: ENSG00000160746
COSMIC: ANO10
RNA/Proteins
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 |
|---|---|---|---|
| 32620747 | 2020 | TMEM16K is an interorganelle regulator of endosomal sorting. | 21 |
| 32620747 | 2020 | TMEM16K is an interorganelle regulator of endosomal sorting. | 21 |
| 30515630 | 2019 | ANO10 mutational screening in recessive ataxia: genetic findings and refinement of the clinical phenotype. | 7 |
| 31423897 | 2019 | Cognitive characterization of SCAR10 caused by a homozygous c.132dupA mutation in the ANO10 gene. | 4 |
| 31477691 | 2019 | The structural basis of lipid scrambling and inactivation in the endoplasmic reticulum scramblase TMEM16K. | 76 |
| 30515630 | 2019 | ANO10 mutational screening in recessive ataxia: genetic findings and refinement of the clinical phenotype. | 7 |
| 31423897 | 2019 | Cognitive characterization of SCAR10 caused by a homozygous c.132dupA mutation in the ANO10 gene. | 4 |
| 31477691 | 2019 | The structural basis of lipid scrambling and inactivation in the endoplasmic reticulum scramblase TMEM16K. | 76 |
| 27838374 | 2017 | Cellular defects by deletion of ANO10 are due to deregulated local calcium signaling. | 26 |
| 27838374 | 2017 | Cellular defects by deletion of ANO10 are due to deregulated local calcium signaling. | 26 |
| 27045840 | 2016 | Executive and Attentional Disorders, Epilepsy and Porencephalic Cyst in Autosomal Recessive Cerebellar Ataxia Type 3 Due to ANO10 Mutation. | 8 |
| 27787937 | 2016 | Seemingly dominant inheritance of a recessive ANO10 mutation in romani families with cerebellar ataxia. | 6 |
| 27045840 | 2016 | Executive and Attentional Disorders, Epilepsy and Porencephalic Cyst in Autosomal Recessive Cerebellar Ataxia Type 3 Due to ANO10 Mutation. | 8 |
| 27787937 | 2016 | Seemingly dominant inheritance of a recessive ANO10 mutation in romani families with cerebellar ataxia. | 6 |
| 25730773 | 2015 | A Coding Variant of ANO10, Affecting Volume Regulation of Macrophages, Is Associated with Borrelia Seropositivity. | 26 |
Citation
Dessen P
ANO10 (anoctamin 10)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/60375/gene-fusions/submit-meetings/
