ASGR2
Chr 17asialoglycoprotein receptor 2
Also known as: ASGP-R2, ASGPR2, CLEC4H2, HBXBP, HL-2
ASGR2 encodes the minor subunit of the asialoglycoprotein receptor, which mediates endocytosis and lysosomal degradation of glycoproteins with terminal galactose or N-acetylgalactosamine residues to maintain serum glycoprotein homeostasis. This gene is extremely intolerant to loss-of-function variants (pLI ~1.0), suggesting that mutations would likely cause severe disease, though no specific genetic disorders have been definitively associated with ASGR2 mutations in the provided information.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ASGR2 · 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