HSP90B1
Chr 12heat shock protein 90 beta family member 1
Also known as: ECGP, GP96, GRP94, HEL-S-125m, HEL35, TRA1
The protein is an ATP-dependent molecular chaperone localized to the endoplasmic reticulum that regulates protein folding and transport, including folding of Wnt pathway components and Toll-like receptors. Mutations cause autosomal recessive neurodevelopmental disorders with epilepsy and intellectual disability. This gene is highly constrained against loss-of-function variants 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%)
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
HSP90B1 · 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