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

VarType	HCM Freq	ExAC Freq	Case Excess
All	0.00638	0.00198	0.44%
Truncating	0.00395	0.00000	0.40%
Non-Truncating	0.00243	0.00198	0.05%

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

VarType	DCM Freq	ExAC Freq	Case Excess
All	0.00376	0.00198	0.18%
Truncating	0.00000	0.00000	0.00%
Non-Truncating	0.00376	0.00198	0.18%

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 Variants	Combined frequency of rare variants
All Variants	89	0.00166
Truncating	0	nan
Missense	74	0.00132
Inframe	3	0.00005
Splice Site	12	0.00029

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