ANK3
Chr 10ARankyrin 3
Ankyrin-3 is a membrane-cytoskeleton linker protein that localizes ion channels and cell adhesion molecules at axonal initial segments and nodes of Ranvier in neurons. Mutations cause autosomal recessive intellectual developmental disorder. This gene is highly constrained against loss-of-function variants (pLI=1, LOEUF=0.089), indicating that complete loss of ankyrin-3 function is likely incompatible with normal development.
Moderate evidence — consider for supplementary testing
Some data sources returned errors (1)
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Among the most LoF-intolerant genes (~top 3%)
Moderately missense-constrained (top ~2.5%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ANK3 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
A Cohort Study of Disease Prediction Model for High-risk Population With Bipolar Disorder
RECRUITINGOnline Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight
RECRUITINGExternal Resources
Links to major genomics databases and tools