LDB2
Chr 4LIM domain binding 2
Also known as: CLIM1, LDB-2, LDB1
The encoded protein functions as a transcription cofactor that binds to LIM domain-containing transcription factors, enabling assembly of transcriptional regulatory complexes. This gene is highly constrained against loss-of-function variants (pLI 0.95, LOEUF 0.34), but no established Mendelian diseases have been definitively linked to LDB2 mutations in current clinical practice. Genetic association studies have suggested potential roles in retinal detachment and coronary artery disease, though these represent complex trait associations rather than monogenic disorders.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
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
LDB2 · 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