LIN54
Chr 4lin-54 DREAM MuvB core complex component
Also known as: CXCDC1, JC8.6, MIP120, TCX1
LIN54 encodes a component of the DREAM complex that acts as a sequence-specific DNA-binding protein to regulate cell cycle gene expression, binding to over 800 promoters to repress E2F target genes in G0 phase and activate G2/M genes in S phase. Mutations cause autosomal recessive primordial dwarfism with distinctive facial features and intellectual disability. The gene is highly constrained against loss-of-function mutations, indicating intolerance to haploinsufficiency in the general population.
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
LIN54 · 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