GENE REFERENCE / HGNC:6501

LAMP2

lysosome associated membrane protein 2

protein-coding geneXq24Gene information

What does this gene do?

The LAMP2 gene provides instructions for making a protein called lysosome-associated membrane glycoprotein 2 (LAMP-2). As its name suggests, this protein is found in the membrane of cellular structures called lysosomes. Lysosomes are compartments in the cell that digest and recycle different types of materials. The LAMP-2 protein helps transport cellular materials or digestive enzymes into the lysosome. Slightly different versions (isoforms) of the LAMP-2 protein are produced: LAMP-2A, LAMP-2B, and LAMP-2C. These isoforms have slightly different functions and are found in different tissues throughout the body.

The LAMP-2A isoform helps transport certain proteins into the lysosome to be broken down. The LAMP-2B isoform is needed to transport materials into lysosomes using a formation of cellular structures called autophagic vacuoles (or autophagosomes). Cellular material is first enclosed in an autophagic vacuole inside the cell. The autophagic vacuole attaches (fuses) to a lysosome to transfer the cellular material into the lysosome where it can be broken down. The LAMP-2B isoform is involved in the fusion between autophagic vacuoles and lysosomes. LAMP-2B is the main isoform found in the heart and the muscles used for movement (skeletal muscles). The LAMP-2C isoform helps transport building blocks of DNA and RNA (nucleotides) into the lysosome to be broken down.

Source: MedlinePlus, National Library of Medicine. Source publication: 2026-04-01. Source review: 2024-04.

ClinGen reviews

ClinGen reviews the evidence linking a particular gene to a condition. Each rating below describes the strength of that link. It does not classify a variant in your DNA file.

Condition	Inheritance	Evidence
Danon diseaseMONDO:0010281 · Evaluated 2017-10-11	X-linked	DefinitiveHypertrophic Cardiomyopathy Gene Curation Expert Panel

ClinVar records

These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.

Submitted alleles: 1,180
Submissions for variants in or overlapping this gene: 1,922
Submissions explicitly reporting this gene: 1,682
Alleles reported pathogenic / likely pathogenic: 165
VariationIDs with uncertain significance: 310
VariationIDs with conflicting classifications: 66

The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.

NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗

View this gene in ClinVar ↗

YOUR DNA FILE

Can your DNA file tell you about LAMP2?

From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome. ClinVar lists 165 alleles in LAMP2 reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.

From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.

If a variant is not in your file, that does not mean you don’t have it.

What BioDecode checks

BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.

A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in LAMP2.

BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.

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