LAMP2

This page contains an overview of the genetic variation in the LAMP2 gene, including its role in inherited cardiac disease. For more details, click on the links below, or for a specific variant, enter the HGVS variant here:

LAMP2 gene and transcript details

Gene Name
lysosomal-associated membrane protein 2

Gene Links
Ensembl: ENSG00000005893 - Locus Reference Genomic:

Genomic Location
Chromosome X : 119,565,178 - 119,603,024 (reverse strand)
View in: Ensembl - UCSC Genome Browser


Canonical Seqs Transcript (1230 bases)Protein (410 aa)
ENST00000200639 ENSP00000200639
NM_002294.2
P13473

Summary of LAMP2 in Cardiomyopathies

HCM - Hypertrophic Cardiomyopathy - explore in detail
VarTypeHCM FreqExAC FreqCase Excess
All0.006380.001980.44%
Truncating0.003950.000000.40%
Non-Truncating0.002430.001980.05%
Based on an analysis of rare variants (MAF<0.0001) in LAMP2 detected in a cohort of 3290 HCM patients sequenced at OMGL+LMM clinical laboratories, compared to ExAC controls.

DCM - Dilated Cardiomyopathy - explore in detail
VarTypeDCM FreqExAC FreqCase Excess
All0.003760.001980.18%
Truncating0.000000.000000.00%
Non-Truncating0.003760.001980.18%
Based on an analysis of rare variants (MAF<0.0001) in LAMP2 detected in a cohort of 532 DCM patients sequenced at OMGL+LMM clinical laboratories, compared to ExAC controls.


LAMP2 variants in ExAC

Details of the protein-altering LAMP2 variants (missense, loss of function truncating, inframe indels and splice site regions) found in the ExAC database are shown below. To view lists of specific variants with links to detailed population frequency data, click on the variant numbers - for all or a particular variant class.

Total VariantsCombined frequency of rare variants
All Variants890.00166
Truncating0nan
Missense740.00132
Inframe30.00005
Splice Site120.00029

Rare variants are defined as having a mean allelic frequency of less than 0.0001.