AlphaFold predicted structure
ANO3 · Q9BYT9
Mean pLDDT
75.8/ 100
Confident
981 residues
Confidence breakdown
- Very high(≥ 90)34%
- Confident(70–90)42%
- Low(50–70)7%
- Very low(< 50)18%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
ANO3
Chr 11p14.2anoctamin 3
- Aliases:
- GENX-3947, DYT23
- MANE:
- ENST00000256737.8
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Adult onset dystonia, chorea or related movement disorder
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownChildhood onset dystonia, chorea or related movement disorder
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownEarly onset dystonia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownAdult onset neurodegenerative disorder
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownDDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownParkinson Disease and Complex Parkinsonism
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Disease associations (Open Targets)
Cranio-cervical dystonia with laryngeal and upper-limb involvement
0.77Dystonia
0.52dystonic disorder
0.51cervical dystonia
0.50Febrile seizure (within the age range of 3 months to 6 years)
0.40COVID-19
0.37hypothyroidism
0.35ovarian neoplasm
0.35hereditary disease
0.34MMR-related febrile seizures
0.32
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Anoctamin-3
Has calcium-dependent phospholipid scramblase activity; scrambles phosphatidylcholine and galactosylceramide (By similarity). Seems to act as potassium channel regulator and may inhibit pain signaling; can facilitate KCNT1/Slack channel activity by promoting its full single-channel conductance at very low sodium concentrations and by increasing its sodium sensitivity (By similarity). Does not exhibit calcium-activated chloride channel (CaCC) activity (PubMed:21984732)
Diseases associated with ANO3
Curated MONDO disease pages that list ANO3 among their top associated genes.