ANO6

Chr 12q12

anoctamin 6

Aliases:: DKFZp313M0720
MANE:: ENST00000320560.13

OMIM: 608663 ↗NCBI: 196527 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

ANO6 · Q4KMQ2

v62025-08-01

Predicted Aligned Error matrix for ANO6 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

81.6/ 100

Confident

910 residues

Confidence breakdown

Very high(≥ 90)38%
Confident(70–90)47%
Low(50–70)9%
Very low(< 50)7%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Bleeding and platelet disorders
BIALLELIC, autosomal or pseudoautosomal
Inherited bleeding disorders
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Scott syndrome
0.71
COVID-19
0.37
alcohol drinking
0.35
stroke disorder
0.27
hydrocephalus, nonsyndromic, autosomal recessive 2
0.27
Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
0.27
polyarteritis nodosa
0.20
hereditary disease
0.19
neoplasm
0.10
breast cancer
0.09

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Anoctamin-6

Small-conductance calcium-activated nonselective cation (SCAN) channel which acts as a regulator of phospholipid scrambling in platelets and osteoblasts (PubMed:20056604, PubMed:21107324, PubMed:21908539, PubMed:22006324, PubMed:22946059). Phospholipid scrambling results in surface exposure of phosphatidylserine which in platelets is essential to trigger the clotting system whereas in osteoblasts is essential for the deposition of hydroxyapatite during bone mineralization (By similarity). Has calcium-dependent phospholipid scramblase activity; scrambles phosphatidylserine, phosphatidylcholine and galactosylceramide (By similarity). Can generate outwardly rectifying chloride channel currents in airway epithelial cells and Jurkat T lymphocytes (By similarity)