MAB21L2
Chr 4ADARmab-21 like 2
Also known as: MCOPS14, MCSKS14
MAB21L2 encodes a nuclear protein required for normal embryonic eye development and is similar to C. elegans cell fate-determining genes downstream of TGF-beta signaling. Mutations cause microphthalmia/coloboma and skeletal dysplasia syndrome with both autosomal dominant and autosomal recessive inheritance patterns reported. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.549), reflecting its essential role in early developmental processes affecting ocular and skeletal systems.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Moderately missense-constrained (top ~2.5%)
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
MAB21L2 · 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
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools