NID2
Chr 14nidogen 2
Also known as: NID-2
This protein is a cell adhesion glycoprotein that binds collagens I and IV, laminin, and perlecan to maintain basement membrane structure. Mutations cause autosomal recessive congenital muscular dystrophy with intellectual disability and seizures, typically presenting in infancy. The gene shows moderate constraint against loss-of-function variants, with muscle, brain, and eye being the primary affected organ systems.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Tolerant to missense variation
ClinVar Variant Classifications
327 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 | 8 | 0 | 8 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 247 | 1 | 0 | 248 |
Likely Benign | 0 | 19 | 0 | 8 | 27 |
Benign | 0 | 7 | 1 | 4 | 12 |
Conflicting | — | 1 | |||
| Total | 0 | 273 | 11 | 12 | 297 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
NID2 · 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