LAMP2
Chr XXLDlysosome associated membrane protein 2
Also known as: CD107b, DND, LAMP-2, LAMPB, LGP-96, LGP110
The protein is a lysosomal membrane glycoprotein that provides carbohydrate ligands for selectins and functions in lysosomal protection, maintenance, and adhesion. Mutations cause Danon disease through an X-linked dominant inheritance pattern. The pathogenic mechanism involves gain-of-function effects affecting lysosomal integrity and cellular adhesion processes.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
The highest-scoring mechanism for this gene is gain-of-function.
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
LAMP2 · 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
Study of the Evolution of the Expression of the LAMP-2 Protein During the Advance in Age
RECRUITINGUnderstanding the Impact of Meal Timing on Neurological Health in Adults With Multiple Sclerosis
NOT YET RECRUITINGA Gene Therapy Study of RP-A501 in Male Patients With Danon Disease
RECRUITINGExternal Resources
Links to major genomics databases and tools