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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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ANO10
anoctamin 10
Chromosome 3 Β· 3p22.1-p21.33
NCBI Gene: 55129Ensembl: ENSG00000160746.14HGNC: HGNC:25519UniProt: Q9NW15
60PubMed Papers
21Diseases
0Drugs
75Pathogenic Variants
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
chloride transmembrane transportplasma membranecalcium-activated cation channel activitymembraneautosomal recessive spinocerebellar ataxia 10Adult-onset autosomal recessive cerebellar ataxiaDorfman-Chanarin diseaseattention deficit hyperactivity disorder
✦AI Summary

ANO10 (anoctamin 10/TMEM16K) is a transmembrane calcium-activated ion channel and phospholipid scramblase with dual functional roles 1. Unlike other anoctamins, ANO10 does not exhibit typical calcium-activated chloride channel (CaCC) activity but does demonstrate chloride channel and phospholipid scrambling activities in a calcium-dependent manner 1. ANO10 participates in multiple cellular processes including endosomal sorting, spindle assembly, mitotic spindle formation, and calcium signaling 12. Mechanistically, ANO10 functions through regulation of local calcium signaling; loss-of-function mutations cause deranged intracellular calcium dynamics in affected cells 2. This dysfunction impairs ion transport, volume regulation, and apoptotic responses in epithelial cells and macrophages 2. Biallelic ANO10 mutations cause autosomal recessive spinocerebellar ataxia type 10 (SCAR10/ATX-ANO10), characterized by slowly progressive cerebellar ataxia with pyramidal signs, cerebellar atrophy, and variable cognitive decline 34. Over 80% of cases involve loss-of-function variants 3. The c.1150_1151del variant, particularly common in Romani populations, associates with earlier disease onset 3. ANO10 defects also cause secondary coenzyme Q10 deficiency, suggesting potential therapeutic benefit from CoQ10 supplementation 5. Disease mechanisms involve calcium signaling dysregulation in Purkinje cells and endolysosomal pathway dysfunction 1.

Sources cited
1
ANO10 exhibits chloride channel and phospholipid scrambling activities in calcium-dependent manner; involved in endosomal sorting, spindle assembly, and calcium signaling; SCAR10 mechanism involves Purkinje cell calcium dysregulation and endolysosomal pathway dysfunction
PMID: 35648332
2
Over 80% of ATX-ANO10 patients have loss-of-function variants; c.1150_1151del variant common in Romani populations with 14-year earlier mean age at onset
PMID: 38469933
3
ANO10 deletion causes deranged local calcium signaling, defective ion transport, impaired volume regulation, and altered apoptosis; mutations cause cellular defects through calcium dysregulation
PMID: 27838374
4
ANO10 mutations cause slowly progressive spastic ataxia with pyramidal signs, cerebellar atrophy, bradykinesia, cognitive decline, and neurophysiological abnormalities
PMID: 30515630
5
ANO10 mutations cause secondary coenzyme Q10 deficiency in SCAR10 patients who may benefit from CoQ10 supplementation
PMID: 25182700
Disease Associationsβ“˜21
autosomal recessive spinocerebellar ataxia 10Open Targets
0.79Strong
Adult-onset autosomal recessive cerebellar ataxiaOpen Targets
0.74Strong
Dorfman-Chanarin diseaseOpen Targets
0.47Moderate
attention deficit hyperactivity disorderOpen Targets
0.41Moderate
autosomal recessive cerebellar ataxiaOpen Targets
0.40Moderate
COVID-19Open Targets
0.37Weak
Abnormal central motor functionOpen Targets
0.34Weak
major depressive disorderOpen Targets
0.34Weak
risk-taking behaviourOpen Targets
0.33Weak
post-traumatic stress disorderOpen Targets
0.28Weak
brain compressionOpen Targets
0.27Weak
edemaOpen Targets
0.27Weak
dysthymic disorderOpen Targets
0.26Weak
depressive disorderOpen Targets
0.25Weak
gastric ulcerOpen Targets
0.25Weak
hemorrhageOpen Targets
0.25Weak
genetic disorderOpen Targets
0.19Weak
mood disorderOpen Targets
0.18Weak
male reproductive organ cancerOpen Targets
0.18Weak
smoking initiationOpen Targets
0.14Weak
Spinocerebellar ataxia, autosomal recessive, 10UniProt
Pathogenic Variants75
NM_018075.5(ANO10):c.124A>T (p.Lys42Ter)Pathogenic
not provided|Autosomal recessive spinocerebellar ataxia 10
β˜…β˜…β˜†β˜†2026β†’ Residue 42
NM_018075.5(ANO10):c.1163-9A>GPathogenic
Autosomal recessive spinocerebellar ataxia 10|not provided
β˜…β˜…β˜†β˜†2026
NM_018075.5(ANO10):c.132dup (p.Asp45fs)Pathogenic
Autosomal recessive spinocerebellar ataxia 10|not provided|Autosomal recessive cerebellar ataxia|Abnormal central motor function
β˜…β˜…β˜†β˜†2026β†’ Residue 45
NM_018075.5(ANO10):c.1009T>G (p.Phe337Val)Pathogenic
not provided|Autosomal recessive spinocerebellar ataxia 10
β˜…β˜…β˜†β˜†2026β†’ Residue 337
NM_018075.5(ANO10):c.96del (p.Glu33fs)Pathogenic
Autosomal recessive spinocerebellar ataxia 10|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 33
NM_018075.5(ANO10):c.710G>A (p.Trp237Ter)Pathogenic
not provided|Autosomal recessive spinocerebellar ataxia 10
β˜…β˜…β˜†β˜†2025β†’ Residue 237
NM_018075.5(ANO10):c.289del (p.Thr96_Met97insTer)Pathogenic
not provided|Autosomal recessive spinocerebellar ataxia 10
β˜…β˜…β˜†β˜†2025β†’ Residue 96
NM_018075.5(ANO10):c.139+1G>TPathogenic
Autosomal recessive spinocerebellar ataxia 10|not provided
β˜…β˜…β˜†β˜†2025
NM_018075.5(ANO10):c.1604del (p.Ala534_Leu535insTer)Pathogenic
Autosomal recessive spinocerebellar ataxia 10
β˜…β˜…β˜†β˜†2025β†’ Residue 534
NM_018075.5(ANO10):c.473-2A>TLikely pathogenic
not provided
β˜…β˜…β˜†β˜†2024
NM_018075.5(ANO10):c.1218+1G>CPathogenic
not provided
β˜…β˜…β˜†β˜†2024
NM_018075.5(ANO10):c.1797+1G>ALikely pathogenic
not provided|Autosomal recessive spinocerebellar ataxia 10
β˜…β˜…β˜†β˜†2024
NM_018075.5(ANO10):c.1244C>G (p.Ser415Ter)Pathogenic
not provided|Autosomal recessive spinocerebellar ataxia 10
β˜…β˜…β˜†β˜†2024β†’ Residue 415
NM_018075.5(ANO10):c.473-2A>GPathogenic
not provided|Autosomal recessive spinocerebellar ataxia 10
β˜…β˜…β˜†β˜†2024
NM_018075.5(ANO10):c.1121_1145del (p.Asn374fs)Pathogenic
Autosomal recessive spinocerebellar ataxia 10|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 374
NM_018075.5(ANO10):c.1760C>G (p.Ser587Ter)Pathogenic
not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 587
NM_018075.5(ANO10):c.1025G>A (p.Trp342Ter)Pathogenic
Autosomal recessive spinocerebellar ataxia 10|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 342
NM_018075.5(ANO10):c.1150_1151del (p.Leu384fs)Pathogenic
Autosomal recessive spinocerebellar ataxia 10|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 384
NM_018075.5(ANO10):c.1519del (p.Tyr507fs)Pathogenic
not provided|Autosomal recessive spinocerebellar ataxia 10
β˜…β˜…β˜†β˜†2024β†’ Residue 507
NM_018075.5(ANO10):c.986C>G (p.Ser329Ter)Pathogenic
not provided|Autosomal recessive spinocerebellar ataxia 10
β˜…β˜…β˜†β˜†2023β†’ Residue 329
View on ClinVar β†—
Related Genes
ANO7Shared pathway67%TMC4Shared pathway67%ANO8Shared pathway67%ANO2Shared pathway67%TMEM63AShared pathway50%CLCA4Shared pathway50%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
70%
Lung
53%
Heart
40%
Ovary
39%
Liver
29%
Gene Interaction Network
Click a node to explore
ANO10ANO7TMC4ANO8ANO2TMEM63ACLCA4
PROTEIN STRUCTURE
Preparing viewer…
PDB5OC9 Β· 3.20 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.24LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.02 [0.85–1.24]
RankingsWhere ANO10 stands among ~20K protein-coding genes
  • #7,630of 20,598
    Most Researched60
  • #982of 5,498
    Most Pathogenic Variants75 Β· top quartile
  • #13,082of 17,882
    Most Constrained (LOEUF)1.24
Genes detectedANO10
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
ANO10 Function in Health and Disease.
PMID: 35648332
Cerebellum Β· 2023
1.00
2
ANO10-Related Spinocerebellar Ataxia: MDSGene Systematic Literature Review and a Romani Case Series.
PMID: 38469933
Mov Disord Β· 2024
0.90
3
Cellular defects by deletion of ANO10 are due to deregulated local calcium signaling.
PMID: 27838374
Cell Signal Β· 2017
0.80
4
[Rare forms of autosomal recessive spinocerebellar ataxia associated with mutations in the ANO10 (ATX-ANO10) and SYNE1 (ATX-SYNE1) genes].
PMID: 39269294
Zh Nevrol Psikhiatr Im S S Korsakova Β· 2024
0.70
5
Targeted Long-Read Sequencing as a Single Assay Improves the Diagnosis of Spastic-Ataxia Disorders.
PMID: 40007153
Ann Clin Transl Neurol Β· 2025
0.60