AlphaFold predicted structure
ANO4 · Q32M45
Mean pLDDT
78.9/ 100
Confident
955 residues
Confidence breakdown
- Very high(≥ 90)35%
- Confident(70–90)45%
- Low(50–70)8%
- Very low(< 50)13%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
ANO4
Chr 12q23.1anoctamin 4
- Aliases:
- FLJ34221, FLJ34272, FLJ35277
- MANE:
- ENST00000392977.8
Annotations refreshed 9 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Disease associations (Open Targets)
developmental and epileptic encephalopathy
0.50COVID-19
0.37generalized epilepsy with febrile seizures plus
0.34cardiac transplant
0.31attention deficit-hyperactivity disorder
0.31substance abuse
0.30cervical carcinoma
0.30ovarian neoplasm
0.29tongue cancer
0.29breast disorder
0.29
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Anoctamin-4
Has calcium-dependent phospholipid scramblase activity; scrambles phosphatidylserine, phosphatidylcholine and galactosylceramide (By similarity). Does not exhibit calcium-activated chloride channel (CaCC) activity (By similarity)
Diseases associated with ANO4
Curated MONDO disease pages that list ANO4 among their top associated genes.