NEU2
Chr 2neuraminidase 2
Also known as: SIAL2
NEU2 encodes a cytosolic sialidase enzyme that catalyzes the hydrolytic cleavage of terminal sialic acid residues from gangliosides, glycoproteins, and oligosaccharides, with preference for specific sialyl linkage positions. Mutations cause autosomal recessive sialidosis with neurodegeneration affecting the central nervous system. The gene shows minimal constraint against loss-of-function variants (pLI near zero, LOEUF 1.928), suggesting the associated phenotypes may be relatively mild or uncommon.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
99 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 32 | 0 | 32 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 55 | 6 | 0 | 61 |
Likely Benign | 0 | 5 | 0 | 0 | 5 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 60 | 39 | 0 | 99 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
NEU2 · 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
External Resources
Links to major genomics databases and tools