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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ANO6
anoctamin 6
Chromosome 12 Β· 12q12
NCBI Gene: 196527Ensembl: ENSG00000177119.17HGNC: HGNC:25240UniProt: A0A7P0TBC5
100PubMed Papers
21Diseases
0Drugs
37Pathogenic Variants
FUNCTIONAL ROLE
Ion ChannelTransporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
activation of blood coagulation via clotting cascadecalcium-activated cation channel activityphospholipid scramblase activityintracellularly calcium-gated chloride channel activityScott syndromeCOVID-19alcohol drinkingCongenital muscular alpha-dystroglycanopathy with brain and eye anomalies
✦AI Summary

ANO6 (anoctamin 6) is a calcium-activated phospholipid scramblase and ion channel that mediates cell surface exposure of phosphatidylserine 1. Upon intracellular calcium elevation, ANO6 translocates phosphatidylserine from the inner to outer plasma membrane leaflet 2, a process critical for multiple pathological processes. ANO6 regulates ADAM17 sheddase activity and metalloproteinase function by facilitating phosphatidylserine externalization 2. During SARS-CoV-2 infection, ANO6-mediated phosphatidylserine scrambling is essential for viral entry and syncytia formation, making ANO6 inhibition a potential therapeutic strategy 3. In cancer, ANO6 is highly expressed in multiple tumor types and associated with poor prognosis 4. Notably, in breast cancer, ANO6 expression correlates with macrophage polarization, immune infiltration, and tumor stromal pathways 5. In tumor-lipid-associated macrophage fusion cells, ANO6 is stabilized by SNX10 through the CBX3-SNX10-ANO6 axis, promoting metastatic progression and lipid accumulation 6. In Alzheimer's disease, ANO6 targets TMEM30A to regulate endoplasmic reticulum stress-induced ferroptosis and neuronal injury 7. These findings position ANO6 as a pleiotropic regulator relevant to cancer progression, viral infection, and neurodegeneration.

Sources cited
1
ANO6 functions as a calcium-activated phospholipid scramblase and ion channel
PMID: 38642428
2
ANO6 mediates phosphatidylserine externalization and regulates ADAM17 sheddase activity
PMID: 30327201
3
ANO6-mediated phosphatidylserine scrambling is critical for SARS-CoV-2 entry and ANO6 inhibitors block viral infection
PMID: 35839776
4
ANO6 is highly expressed in most cancers and associated with poor prognosis across multiple cancer types
PMID: 40042755
5
ANO6 correlates with macrophage polarization, immune infiltration, and stromal pathways in breast cancer
PMID: 37960776
6
SNX10 stabilizes ANO6 protein in tumor-lipid-associated macrophage fusion cells to promote metastasis
PMID: 41342370
7
ANO6 targets TMEM30A to regulate endoplasmic reticulum stress-induced ferroptosis in Alzheimer's disease
PMID: 40221538
8
ANO6 is identified as a ferroptosis-related gene with prognostic significance in breast cancer
PMID: 37643511
Disease Associationsβ“˜21
Scott syndromeOpen Targets
0.72Strong
COVID-19Open Targets
0.37Weak
alcohol drinkingOpen Targets
0.27Weak
Congenital muscular alpha-dystroglycanopathy with brain and eye anomaliesOpen Targets
0.27Weak
hydrocephalus, nonsyndromic, autosomal recessive 2Open Targets
0.27Weak
genetic disorderOpen Targets
0.19Weak
polyarteritis nodosaOpen Targets
0.19Weak
neoplasmOpen Targets
0.11Weak
type 2 diabetes mellitusOpen Targets
0.10Weak
Von Willebrand diseaseOpen Targets
0.10Suggestive
breast cancerOpen Targets
0.09Suggestive
liver diseaseOpen Targets
0.08Suggestive
Glanzmann thrombasthenia 1Open Targets
0.08Suggestive
cystOpen Targets
0.08Suggestive
gliomaOpen Targets
0.08Suggestive
gastrointestinal stromal tumorOpen Targets
0.07Suggestive
infectionOpen Targets
0.07Suggestive
platelet-type von Willebrand diseaseOpen Targets
0.07Suggestive
listeriosisOpen Targets
0.07Suggestive
Romano-Ward syndromeOpen Targets
0.07Suggestive
Scott syndromeUniProt
Pathogenic Variants37
NM_001025356.3(ANO6):c.1387-1G>TPathogenic
not provided|SCOTT SYNDROME|ANO6-related disorder|Melanoma
β˜…β˜…β˜†β˜†2026
NM_001025356.3(ANO6):c.1192C>T (p.Arg398Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2026β†’ Residue 398
NM_001025356.3(ANO6):c.1912A>T (p.Arg638Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 638
NM_001025356.3(ANO6):c.1273C>T (p.Arg425Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 425
NM_001025356.3(ANO6):c.1783-15_1841delLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_001025356.3(ANO6):c.1105A>T (p.Lys369Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 369
NM_001025356.3(ANO6):c.2421-1G>CLikely pathogenic
not provided|Malignant tumor of esophagus
β˜…β˜†β˜†β˜†2025
NM_001025356.3(ANO6):c.238A>T (p.Arg80Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 80
NM_001025356.3(ANO6):c.1903C>T (p.Arg635Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 635
NM_001025356.3(ANO6):c.1518del (p.Ala507fs)Likely pathogenic
Hydrocephalus, nonsyndromic, autosomal recessive 2
β˜…β˜†β˜†β˜†2024β†’ Residue 507
NM_001025356.3(ANO6):c.2211_2214dup (p.Asn739fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 739
NM_001025356.3(ANO6):c.150+1G>CLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2024
NM_001025356.3(ANO6):c.1255C>T (p.Arg419Ter)Pathogenic
SCOTT SYNDROME|not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 419
NM_001025356.3(ANO6):c.136C>T (p.Arg46Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 46
NM_001025356.3(ANO6):c.2185C>T (p.Gln729Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 729
NM_001025356.3(ANO6):c.1942C>T (p.Arg648Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 648
NM_001025356.3(ANO6):c.1215T>G (p.Tyr405Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 405
NM_001025356.3(ANO6):c.634-1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2023
NM_001025356.3(ANO6):c.2412_2413insT (p.Thr805fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 805
NM_001025356.3(ANO6):c.1073G>A (p.Trp358Ter)Likely pathogenic
SCOTT SYNDROME
β˜…β˜†β˜†β˜†2023β†’ Residue 358
View on ClinVar β†—
Related Genes
SCTRProtein interaction97%NELL2Protein interaction91%NELL1Protein interaction90%XKR8Protein interaction80%ANO4Shared pathway25%ANO3Shared pathway24%
Tissue Expression6 tissues
Lung
100%
Heart
95%
Ovary
74%
Liver
57%
Brain
47%
Bone Marrow
19%
Gene Interaction Network
Click a node to explore
ANO6SCTRNELL2NELL1XKR8ANO4ANO3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q4KMQ2
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.02LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.87 [0.74–1.02]
RankingsWhere ANO6 stands among ~20K protein-coding genes
  • #4,761of 20,598
    Most Researched100 Β· top quartile
  • #1,617of 5,498
    Most Pathogenic Variants37
  • #10,004of 17,882
    Most Constrained (LOEUF)1.02
Genes detectedANO6
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Analysis of a new therapeutic target and construction of a prognostic model for breast cancer based on ferroptosis genes.
PMID: 37643511
Comput Biol Med Β· 2023
1.00
2
Fusion of Tumor Cells with Lipid-Associated Macrophages Drives Metastatic Progression of Breast Cancer.
PMID: 41342370
Cancer Res Β· 2026
0.90
3
ANO6 Targets TMEM30A to Regulate Endoplasmic Reticulum Stress-Induced Lipid Peroxidation and Ferroptosis in Alzheimer's Cells.
PMID: 40221538
Cell Biochem Biophys Β· 2025
0.80
4
The anoctamins: Structure and function.
PMID: 38642428
Cell Calcium Β· 2024
0.70
5
Gene of the issue:
PMID: 31746257
Platelets Β· 2020
0.60