LAMP2 Gene: Structure, Function, and Clinical Significance
A comprehensive overview of the LAMP2 gene, its protein product, associated diseases, expression patterns, and mutations.
Gene Information Card
| Symbol | LAMP2 |
|---|---|
| Full Name | Lysosomal Associated Membrane Protein 2 |
| Gene Type | protein coding |
| Chromosomal Location | Xq24 |
| NCBI Gene ID | 3920 ncbi.nlm.nih.gov/gene/3920 |
| Ensembl ID | ENSG00000005893 |
| UniProt ID | P13473 |
| OMIM ID | 309060 |
| HGNC ID | 6501 |
| Aliases | LAMPB, LGP-96, CD107b, LAMP-2 |
Description
The LAMP2 gene encodes lysosomal-associated membrane protein 2, a heavily glycosylated type I transmembrane protein that is a major component of lysosomal membranes. It plays a critical role in autophagy, chaperone-mediated autophagy, and lysosomal biogenesis. Mutations in LAMP2 cause Danon disease, a rare X-linked dominant disorder characterized by cardiomyopathy, myopathy, and intellectual disability. Alternative splicing produces three isoforms (LAMP2A, LAMP2B, LAMP2C) with distinct tissue-specific functions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Danon disease | Loss-of-function mutations in LAMP2 lead to impaired autophagy and accumulation of autophagic vacuoles in muscle and heart tissues. | ClinVar, OMIM |
| Cardiomyopathy, hypertrophic | LAMP2 mutations cause hypertrophic cardiomyopathy as a primary feature of Danon disease. | ClinVar, OMIM |
| Glycogen storage disease IIb (Pompe disease, atypical) | Some LAMP2 mutations may present with a phenotype resembling Pompe disease due to lysosomal dysfunction. | ClinVar |
| Becker muscular dystrophy-like phenotype | Mutations in LAMP2 can cause a skeletal muscle phenotype similar to Becker muscular dystrophy. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | High | High |
| Skeletal Muscle | High | High |
| Brain | Medium | Medium |
| Liver | Medium | Medium |
| Kidney | Medium | Medium |
| Lung | Low | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | High | Cervical cancer cell line; high LAMP2 expression |
| HepG2 | Medium | Liver cancer cell line; moderate expression |
| A549 | Medium | Lung carcinoma; moderate expression |
| MCF7 | Low | Breast cancer; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.928G>A (p.Gly310Arg) | Missense | Rare | Loss of function; associated with Danon disease |
| c.507_508del (p.Lys169Asnfs*2) | Frameshift | Rare | Loss of function; causes Danon disease |
| c.64C>T (p.Arg22*) | Nonsense | Rare | Loss of function; Danon disease |
| c.741_742insA (p.Leu248Thrfs*3) | Insertion | Rare | Loss of function; Danon disease |
Mutation functional classification
Loss of Function (LOF)
Most LAMP2 mutations are loss-of-function, leading to reduced or absent protein, impairing autophagy and causing Danon disease.
Gain of Function (GOF)
No gain-of-function mutations have been reported for LAMP2.
Dominant Negative (DN)
Some missense mutations may exert a dominant-negative effect by interfering with normal LAMP2 function, though this is not well established.
View complete mutation data：
Gene Ontology (GO)
| • lysosomal membrane | • autophagy |
| • chaperone-mediated autophagy | • protein binding |
| • integral component of membrane | • lysosome organization |
Pathways
• Autophagy
• Lysosome
• Chaperone-mediated autophagy
• Endocytosis
Protein Summary
The LAMP2 protein is a highly glycosylated type I membrane protein localized to lysosomes and endosomes. It has a large luminal domain, a single transmembrane domain, and a short cytoplasmic tail. It is involved in autophagy, particularly chaperone-mediated autophagy (via LAMP2A), and in lysosomal biogenesis. The protein is essential for maintaining cellular homeostasis and protecting against cellular stress. Mutations lead to lysosomal dysfunction and accumulation of autophagic vacuoles, particularly in cardiac and skeletal muscle.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LAMP2 Knockout HEK293 Cell Line | EDJ-KQ2902 | Human | 3920 | Details Get a Quote |
| LAMP2 Knockout A-549 Cell Line | EDJ-KQ23980 | Human | 3920 | Details Get a Quote |
| LAMP2 Knockout HCT 116 Cell Line | EDJ-KQ23981 | Human | 3920 | Details Get a Quote |
| LAMP2 Knockout HeLa Cell Line | EDJ-KQ23982 | Human | 3920 | Details Get a Quote |
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