ANKLE2
Chr 12ARankyrin repeat and LEM domain containing 2
Also known as: KIAA0692, LEMD7, Lem4, MCPH16
This gene encodes a LEM family inner nuclear membrane protein that promotes dephosphorylation of BAF during mitotic exit to facilitate nuclear envelope reassembly and is involved in brain development. Mutations cause primary microcephaly 16, a neurodevelopmental disorder characterized by reduced brain size present from birth. The condition follows autosomal recessive inheritance.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ANKLE2 · 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
External Resources
Links to major genomics databases and tools