HAS2
Chr 8hyaluronan synthase 2
HAS2 encodes hyaluronan synthase 2, which catalyzes the synthesis of hyaluronan, a major extracellular matrix component essential for tissue architecture, cell adhesion, migration, and differentiation. Mutations cause syndromic short stature with joint and skin abnormalities, inherited in an autosomal recessive pattern. This gene is highly constrained against loss-of-function variants in the population, indicating its critical importance in human development.
Limited evidence — not for standalone diagnostic reporting
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
HAS2 · 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
The Role of Sugars in Fat Accumulation in the Liver
RECRUITINGBeamion LUNG-1: A Study to Test Different Doses of Zongertinib in People With Different Types of Advanced Cancer (Solid Tumours With Changes in the HER2 Gene)
ACTIVE NOT RECRUITINGPromoting Active Living Among People With Metastatic Breast Cancer
RECRUITINGBivalent Vaccine With Escalating Doses of the Immunological Adjuvant OPT-821, in Combination With Oral β-glucan for High-Risk Neuroblastoma
ACTIVE NOT RECRUITINGExternal Resources
Links to major genomics databases and tools