HMGB1
Chr 13high mobility group box 1
The encoded protein is a multifunctional chromatin-associated non-histone protein that acts as a DNA chaperone involved in transcription, replication, chromatin remodeling, and DNA repair, and also functions as a danger-associated molecular pattern molecule in immune responses. This gene is associated with neurodevelopmental disorders and intellectual disability, with an autosomal dominant inheritance pattern. The gene shows high constraint against loss-of-function variants (pLI 0.82, LOEUF 0.47), indicating that haploinsufficiency is likely not well tolerated.
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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
HMGB1 · 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 Vaccine (MV-s-NAP) for the Treatment of Patients With Invasive Metastatic Breast Cancer
RECRUITINGPulmonary Immune Cell-microbiome Interactions in the Healthy Lung
RECRUITINGNew Preclinical and Clinical Approaches to Mesothelioma
RECRUITINGCardiometabolic Risk of Obese Subjects: Cross-sectional Study
RECRUITINGExternal Resources
Links to major genomics databases and tools