GeneCard

EntrezGene summary for LAMP2:

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]

UniProtKB/Swiss-Prot: LAMP2_HUMAN, P13473

Function: Implicated in tumor cell metastasis. May function in protection of the lysosomal membrane

from autodigestion, maintenance of the acidic environment of the lysosome, adhesion when expressed

on the cell surface (plasma membrane), and inter- and intracellular signal transduction

Gene Wiki entry for LAMP2

Genomic View:

UCSC Golden Path with GeneCards custom track

Assays for LAMP2:

Graphical View of Domain Structure for InterPro Entry P13473

ProtoNet protein and cluster: P13473

1 Blocks protein family: IPB002000 Lysosome-associated membrane glycoprotein (Lamp)/CD68

UniProtKB/Swiss-Prot: LAMP2_HUMAN, P13473

Similarity: Belongs to the LAMP family

OriGene genome-wide validated SYBR primer pairs: NM_001122606

UniProtKB/Swiss-Prot: LAMP2_HUMAN, P13473

Function: Implicated in tumor cell metastasis. May function in protection of the lysosomal membrane

from autodigestion, maintenance of the acidic environment of the lysosome, adhesion when expressed

on the cell surface (plasma membrane), and inter- and intracellular signal transduction

Genatlas biochemistry entry for LAMP2:

lysosomal associated membrane protein 2

About these images

CGAP SAGE TAG: GCCATTATAA

SOURCE GeneReport for Unigene cluster: Hs.496684

Expression variation in blood from EXPOLDB for LAMP2

UniProtKB/Swiss-Prot: LAMP2_HUMAN, P13473

Tissue specificity: Isoform LAMP-2A is highly expressed in placenta, lung and liver, less in kidney

and pancreas, low in brain and skeletal muscle. Isoform LAMP-2B is highly expressed in skeletal

muscle, less in brain, placenta, lung, kidney and pancreas, very low in liver

Orthologs for LAMP2 gene from 5/6 species (see all 6 )

About this table Species with no ortholog for LAMP2

ENSEMBL Gene Tree for LAMP2

Paralogs for LAMP2 gene

LAMP1² LAMP3² CD68²

10/193 NCBI SNPs in LAMP2 are shown (see all 193 )

About this table

HapMap Linkage Disequilibrium images for LAMP2 (up to first 250kb)

OMIM: 309060 disorders: 300257

UniProtKB/Swiss-Prot: LAMP2_HUMAN, P13473

Defects in LAMP2 are the cause of Danon disease (DAND) [MIM:300257]; also known as

glycogen storage disease type 2B (GSD2B). DAND is a lysosomal glycogen storage disease

characterized by the clinical triad of cardiomyopathy, vacuolar myopathy and mental retardation.

It is often associated with an accumulation of glycogen in muscle and lysosomes

About this table

Human Gene Mutation Database: LAMP2

Human Genome Epidemiology Navigator: LAMP2 (2 documents)

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10/148 PubMed articles for LAMP2 gene (see all 148 ):

• • Glycogen storage diseases presenting as hypertrophic cardiomyopathy. (PubMed id 15673802)^{1, 3, 4} Arad M....Seidman J.G. (2005)

  • Asymptomatic hyperCKemia in a case of Danon disease due to a missense mutation in Lamp-2 gene. (PubMed id 15907287)^{1, 3, 4} Musumeci O.... Toscano A. (2005)

  • The polylactosaminoglycans of human lysosomal membrane glycoproteins lamp-1 and lamp-2. Localization on the peptide backbones. (PubMed id 2243102)^{1, 3, 4} Carlsson S.R. and Fukuda M. (1990)

  • The DNA sequence of the human X chromosome. (PubMed id 15772651)^{3, 4} Ross M.T.... Bentley D.R. (2005)

  • Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PubMed id 16335952)^{3, 4} Liu T.... Smith R.D. (2005)

  • Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PubMed id 15340161)^{3, 4} Zhang Z. and Henzel W.J. (2004)

  • The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{3, 4} Gerhard D.S....Malek J. (2004)

  • Identification and quantification of N-linked glycoproteins using hydrazide chemistry, stable isotope labeling and mass spectrometry. (PubMed id 12754519)^{3, 4} Zhang H.... Aebersold R. (2003)

  • An alternatively spliced form of the human lysosome-associated membrane protein-2 gene is expressed in a tissue-specific manner. (PubMed id 7488019)^{3, 4} Konecki D.S....Lichter-Konecki U. (1995)

  • Complete cDNA sequence of human lysosome-associated membrane protein- 2. (PubMed id 7999007)^{3, 4} Konecki D.S.... Lichter-Konecki U. (1994)

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