LAMP2 Chromosome X
Lysosome associated membrane protein 2
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What This Gene Does
The protein encoded by this gene is a member of a family of membrane glycoproteins. This glycoprotein provides selectins with carbohydrate ligands. It may play a role in tumor cell metastasis. It may also function in the protection, maintenance, and adhesion of the lysosome. Alternative splicing of this gene results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"CD molecules|Lysosome associated membrane proteins"
Locus Type
gene with protein product
Location
Xq24
Ensembl
ENSG00000005893
Associated Conditions (16)
Danon disease
Cardiovascular phenotype
Cardiomyopathy
Hypertrophic cardiomyopathy
Intellectual disability
LAMP2-related disorder
Nonpapillary renal cell carcinoma
Primary dilated cardiomyopathy
Trifascicular block on electrocardiogram
Primary familial hypertrophic cardiomyopathy
Melanoma
Thyroid cancer
nonmedullary
1
Malignant tumor of urinary bladder
Isolated Noncompaction of the Ventricular Myocardium
Key Variants
RS1033442580
Conflicting classifications of pathogenicity
Danon disease, Cardiovascular phenotype, Danon disease
Health Risk
RS1045629648
Conflicting classifications of pathogenicity
Danon disease, Cardiovascular phenotype, Danon disease
Health Risk
RS1060504543
Conflicting classifications of pathogenicity
Danon disease, Cardiomyopathy, Cardiovascular phenotype
Health Risk
RS111703410
Conflicting classifications of pathogenicity
Danon disease, Cardiovascular phenotype, Danon disease
Health Risk
RS1271107737
Conflicting classifications of pathogenicity
Danon disease, Cardiovascular phenotype, Danon disease
Health Risk
RS1292531971
Conflicting classifications of pathogenicity
Cardiomyopathy, Danon disease, Cardiovascular phenotype
Health Risk
RS1319752625
Conflicting classifications of pathogenicity
Danon disease, Cardiovascular phenotype, Danon disease
Health Risk
RS1358581771
Conflicting classifications of pathogenicity
Danon disease, Cardiovascular phenotype, Danon disease
Health Risk
RS1362738445
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Danon disease, Cardiovascular phenotype
Health Risk
RS1380200946
Conflicting classifications of pathogenicity
Danon disease, Danon disease
Health Risk
RS138374063
Conflicting classifications of pathogenicity
Danon disease, Cardiovascular phenotype, Danon disease
Health Risk
RS138991195
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Hypertrophic cardiomyopathy, Danon disease
Health Risk
All Variants (169)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS727504648 | Health Risk | Pathogenic | Danon disease, Cardiovascular phenotype, Danon disease |
| RS727504742 | Health Risk | Pathogenic | Danon disease, Primary dilated cardiomyopathy, Danon disease |
| RS730880485 | Health Risk | Pathogenic | — |
| RS730880490 | Health Risk | Pathogenic | — |
| RS730880492 | Health Risk | Pathogenic | Cardiomyopathy, Danon disease, Cardiomyopathy |
| RS730880493 | Health Risk | Pathogenic | — |
| RS730880498 | Health Risk | Pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS876657696 | Health Risk | Pathogenic | Danon disease, Danon disease |
| RS950725039 | Health Risk | Pathogenic | — |
| RS957313991 | Health Risk | Pathogenic | Danon disease, Danon disease |
| RS1057517940 | Health Risk | Pathogenic/Likely pathogenic | Cardiovascular phenotype, Danon disease, Cardiovascular phenotype |
| RS1251075016 | Health Risk | Pathogenic/Likely pathogenic | Danon disease, Cardiovascular phenotype, Danon disease |
| RS1556092556 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS1556101640 | Health Risk | Pathogenic/Likely pathogenic | Danon disease, Danon disease |
| RS2147278858 | Health Risk | Pathogenic/Likely pathogenic | Danon disease, Danon disease |
| RS397516751 | Health Risk | Pathogenic/Likely pathogenic | Danon disease, Hypertrophic cardiomyopathy, Cardiovascular phenotype |
| RS727503120 | Health Risk | Pathogenic/Likely pathogenic | Danon disease, Hypertrophic cardiomyopathy, Cardiovascular phenotype |
| RS730880483 | Health Risk | Pathogenic/Likely pathogenic | Danon disease, Danon disease |
| RS730880496 | Health Risk | Pathogenic/Likely pathogenic | Danon disease, Danon disease |