Property Summary

NCBI Gene PubMed Count 103
PubMed Score 315.73
PubTator Score 262.73

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (18)

Disease log2 FC p
Waldenstrons macroglobulinemia 1.125 4.5e-02
Multiple myeloma 1.713 1.1e-03
malignant mesothelioma -1.900 7.3e-08
psoriasis 1.200 1.5e-03
group 4 medulloblastoma -2.100 8.4e-04
glioblastoma 1.600 6.8e-03
medulloblastoma, large-cell -2.100 9.5e-04
juvenile dermatomyositis 1.114 4.7e-10
acute quadriplegic myopathy 1.083 1.7e-05
tuberculosis 1.500 4.9e-07
pancreatic ductal adenocarcinoma liver m... -2.105 8.0e-03
lung cancer -1.900 6.3e-03
pediatric high grade glioma 1.300 3.0e-03
pilocytic astrocytoma 1.100 2.9e-04
subependymal giant cell astrocytoma 1.940 2.7e-02
ovarian cancer 2.000 1.0e-03
Down syndrome 1.900 4.5e-04
dermatomyositis 1.500 1.6e-03

 GO Function (1)

 OMIM Phenotype (1)

Gene RIF (62)

PMID Text
26856698 LAMP-2C serves as a natural inhibitor of chaperone-mediated autophagy that can selectively skew MHCII presentation of cytoplasmic antigens
26658462 This study showed that LAMP2 upregulation occurs in vitro and in vivo in neoplastic cells.
26398689 In our study of the EOG in Danon disease, we show for the first time to our knowledge that a LAMP2 mutation may cause a primary retinal pigment epitheliopathy.
26350055 Up-regulation of LAMP2 is associated with carcinogenesis and progression of Salivary Adenoid Cystic Carcinoma.
26186441 HIV-1 Vpr reduces co-localization of LAMP2 colocalization with HIV-1 MA (p17) in monocyte-derived macropaphages
25940285 Down-regulation of LAMP2A expression could inhibit cell proliferation in multiple myeloma cells
25653352 HIV-1 Vpr reduces co-localization of LAMP2 colocalization with HIV-1 MA (p17) in monocyte-derived macropaphages
25594542 In the early stages of Parkinson's disease, with LAMP2A selectively reduced in association with increased alpha-synuclein, and decreased levels of heat shock cognate protein 70.
25342746 Data show thart lysosome-associated membrane protein type 2a (LAMP-2A) forms a coiled coil helix trimer in n-dodecylphosphocholine micelle, and protein substrates interact with its cytosolic tail.
25275127 HIV-1 Vpr reduces co-localization of LAMP2 colocalization with HIV-1 MA (p17) in monocyte-derived macropaphages
24899193 HIV-1 Vpr reduces co-localization of LAMP2 colocalization with HIV-1 MA (p17) in monocyte-derived macropaphages
24721399 down-regulation of LAMP2A could reduce the resistance of breast cancer cells to paclitaxel
24691104 Patient B harbored a frame-shift deletion mutation in exon 3 (c.396delA) leading to a truncated LAMP2 protein
24334114 LAMP-1 and LAMP-2 could be used as additional markers with which to assess enzyme replacement therapy effectiveness in Fabry disease.
24203998 Autoantibodies to hLAMP-2 that bind native glomerular but not neutrophil hLAMP-2 are found in patients with ANCA-negative pauci-immune focal necrotizing glomerulonephritis.
24068328 LAMP2 is investigated as a marker of Epstein-Barr virus-mediated B lymphocyte transformation in lysosomal storage diseases.
24007661 LAMP2 has a role in differentiation of primary biliary cirrhosis
23704322 These data support a positive relationship between anti-LAMP-2 antibody and cutaneous vasculitis.
23603048 indicate that monoclonal antibodies specific to CD107a (LAMP-1) or CD107b (LAMP-2) enhanced LPS-induced IL-8 secretion of THP-1 cells.
23492776 Decreased levels of the chaperone-mediated autophagy proteins LAMP-2A and hsc70 (CMA) in Parkinson's disease brain samples suggests compromised alpha-synuclein degradation by CMA and may underpin the Lewy body pathology.
23071649 Studies suggest that Hsc70 and lysosome-associated protein 2A (LAMP-2A) through chaperone-mediated autophagy (CMA) play a role in the clearance of Htt and suggest a novel strategy to target the degradation of mutant huntingtin (Htt).
22874552 expression of LAMP2A was observed in breast tumor tissues of all patients under investigation, suggesting a survival mechanism via chaperone-mediated autophagy and LAMP2A.
22867958 variants within LAMP-2 gene promoter may be linked to Parkinson disease.
22732524 There is a progressive, age-related decrease of LAMP-2 gene expression in the peripheral leukocytes of healthy subjects, indicating a trend of decreasing autophagy activities with aging.
22641697 LAMP proteins retain TAPL on the limiting membrane of endosomes and prevent its sorting to intraluminal vesicles.
22593165 HIV-1 Vpr reduces co-localization of LAMP2 colocalization with HIV-1 MA (p17) in monocyte-derived macropaphages
22541782 findings indicated that patients with Danon disease caused by mutations in exon 1 - 8 manifested as a typically severe phenotype, while patients with mutations in exon 9 of the LAMP2B isoform presented with a relatively benign phenotype
22365987 A novel LAMP2 mutation (c.940delG) in Danon disease patients, which results in a putatively truncated protein.
21514572 decreased LAMP-2 gene expression and increased LC3 gene expression may contribute to the pathogenesis of sporadic Parkinson's disease
21462217 Peripheral leukocyte LAMP-2 expression is significantly inceased in coronary artery disease.
21161685 intrafamilial phenotypic variability in Danon disease is related to a novel LAMP-2 mutation
20926008 Immunohistochemistry studies showed EGBs to exhibit pronounced reactivity to antibodies against lysosome-associated membrane proteins (LAMP)-1 and LAMP-2, and the lysosomal enzyme cathepsin D.
20920663 Lysosome-associated membrane protein (LAMP2) cardiomyopathy is an X-linked and highly progressive myocardial storage disorder associated with diminished survival, which clinically resembles sarcomeric hypertrophic cardiomyopathy.
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20518820 gene deficient B cells exhibit altered MHC class II presentation of exogenous antigens
20513107 Danon disease is caused by deficiency of lysosome-associated membrane protein-2 (LAMP-2).
20173215 The LAMP2 microdeletion mechanism appears to involve 1 Alu-mediated unequal recombination and 2 chromosomal breakage points involving TA-rich repeat sequences.
19913121 Observational study of gene-disease association. (HuGE Navigator)
19912576 HIV-1 Vpr reduces co-localization of LAMP2 colocalization with HIV-1 MA (p17) in monocyte-derived macropaphages
19815536 Data show that the BCG phagosome is relatively depleted in LAMP-2, NPC1, flotillin-1, vATPase, and syntaxin 3.
19533775 Mutational analysis of PRKAG2, LAMP2, and NKX2-5 genes in a cohort of 125 patients with accessory atrioventricular connection.
19524015 Data show that The cell surface expression levels of (ICAM)-2 and -3 on the apoptotic cells were markedly lower, while those of calnexin, calreticulin, and (LAMP)-1 and -2 were significantly higher compared to non-apoptotic cells.
19474101 HIV-1 Vpr reduces co-localization of LAMP2 colocalization with HIV-1 MA (p17) in monocyte-derived macropaphages
19362087 Impaired autolysosome formation correlates with Lamp-2 depletion: role of apoptosis, autophagy, and necrosis in pancreatitis.
19343823 Most Hassal's corpuscules in thymoma were negative for LAMPs, but positive in normal thymus. Both lymphocytes and epithelial cells in pathological thymus showed higher intensity for LAMP-2 compared with LAMP-1.
19057086 Danon disease is an X-linked dominant multisystem disorder that includes hypertrophic cardiomyopathy with skeletal myopathy, and results from mutations in the gene encoding the lysosome-associated membrane protein-2 (LAMP-2).
18958159 Despite its abundance, LAMP-1 is not essential, but LAMP-2 may be partially important for the Salmonella-containing vacuolar membrane.
18550537 UCH-L1 directly interacted with the cytosolic region of LAMP-2A.
18403758 Observational study of gene-disease association. (HuGE Navigator)
18061453 mutation located at the second nucleotide in the intron 8 of the Lamp-2 gene (c.1093+2 T>A) that generated exon 8 skipping confirmed at RNA level in Danon disease
18004770 A new intronic mutation in the LAMP2 gene in French Candian family leading to out frame skppin of exon 7 in Dannon disease.
17899313 Analysis of the lysosome-associated membrane protein-2 (LAMP-2) gene detected a novel mutation, confirming a diagnosis of Danon disease.
17873513 The biopsied muscle specimen stained for LAMP2 and confirmed the diagnosis of vacuolar myopathy with dilated cardiomyopathy.
17506821 Data show that cells lacking either LAMP-1 or LAMP-2 alone formed phagosomes that gradually acquired microbicidal activity and curtailed bacterial growth, but LAMP-1 and LAMP-2 double-deficient cells failed to kill engulfed Neisseria gonorrhoeae.
17296900 Our report further expands the phenotype of Danon disease by describing retinopathy in 3 cases. A thorough clinical examination, including ophthalmic investigation, is needed in all cases of Danon disease.
17048695 LAMP-1 and LAMP-2 may have roles in accidental involution of the thymic gland
16570122 Novel evidence for differential expression of HBGA and LAMPs in proliferative and involutive phases of immunohistochemistry is presented.
16144992 LAMP2 mutations may account for significant proportion of cases of hypertrophic cardiomyopathy children, especially when skeletal myopathy and/or Wolff-Parkinson-White syndrome is present. Danon disease may be underrecognized in pediatric cardiology.
15894275 role for the lysosomal Lamp-2a-hsc70 complex in promoting immunological recognition and antigen presentation
15673802 The glycogen-storage cardiomyopathy produced by LAMP2 or PRKAG2 mutations resembles hypertrophic cardiomyopathy but is distinguished by electrophysiological abnormalities
14561493 This studu showed decreased LAMP2 expression in the sketal muscle in female patient with Danon disease.
12144129 review of structure, function, cell and tissue distribution, intracellular trafficking

AA Sequence

MVCFRLFPVPGSGLVLVCLVLGAVRSYALELNLTDSENATCLYAKWQMNFTVRYETTNKTYKTVTISDHG      1 - 70
TVTYNGSICGDDQNGPKIAVQFGPGFSWIANFTKAASTYSIDSVSFSYNTGDNTTFPDAEDKGILTVDEL     71 - 140
LAIRIPLNDLFRCNSLSTLEKNDVVQHYWDVLVQAFVQNGTVSTNEFLCDKDKTSTVAPTIHTTVPSPTT    141 - 210
TPTPKEKPEAGTYSVNNGNDTCLLATMGLQLNITQDKVASVININPNTTHSTGSCRSHTALLRLNSSTIK    211 - 280
YLDFVFAVKNENRFYLKEVNISMYLVNGSVFSIANNNLSYWDAPLGSSYMCNKEQTVSVSGAFQINTFDL    281 - 350
RVQPFNVTQGKYSTAQDCSADDDNFLVPIAVGAALAGVLILVLLAYFIGLKHHHAGYEQF              351 - 410
//

Text Mined References (109)

PMID Year Title
26856698 2016 LAMP-2C Inhibits MHC Class II Presentation of Cytoplasmic Antigens by Disrupting Chaperone-Mediated Autophagy.
26658462 2015 Chronic acidosis in the tumour microenvironment selects for overexpression of LAMP2 in the plasma membrane.
26398689 2016 THE PHYSIOLOGY OF THE RETINAL PIGMENT EPITHELIUM IN DANON DISEASE.
26350055 2016 Expression of LC3, LAMP2, KEAP1 and NRF2 in Salivary Adenoid Cystic Carcinoma.
26212789 2015 Chaperone-mediated autophagy prevents apoptosis by degrading BBC3/PUMA.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25940285 2015 [Lentivirus-mediated shRNA silencing of LAMP2A inhibits the proliferation of multiple myeloma cells].
25645918 2015 Human neutrophils secrete bioactive paucimannosidic proteins from azurophilic granules into pathogen-infected sputum.
25594542 2015 Lysosomal-associated membrane protein 2 isoforms are differentially affected in early Parkinson's disease.
25342746 2014 Structure of transmembrane domain of lysosome-associated membrane protein type 2a (LAMP-2A) reveals key features for substrate specificity in chaperone-mediated autophagy.
25327288 2014 Selective VPS34 inhibitor blocks autophagy and uncovers a role for NCOA4 in ferritin degradation and iron homeostasis in vivo.
24880125 2014 Degradation of AF1Q by chaperone-mediated autophagy.
24721399 2014 [The effect of LAMP2A shRNA on the resistance of breast cancer cells to paclitaxel].
24691104 Novel LAMP2 mutations in Chinese patients with Danon disease cause varying degrees of clinical severity.
24334114 2014 Lysosome-associated protein 1 (LAMP-1) and lysosome-associated protein 2 (LAMP-2) in a larger family carrier of Fabry disease.
24203998 2014 Autoantibodies to hLAMP-2 in ANCA-negative pauci-immune focal necrotizing GN.
24068328 2014 LAMP2 as a marker of EBV-mediated B lymphocyte transformation in the study of lysosomal storage diseases.
24007661 2013 Identification of a primary biliary cirrhosis associated protein as lysosome-associated membrane protein-2.
23704322 2013 Lysosomal-associated membrane protein-2 plays an important role in the pathogenesis of primary cutaneous vasculitis.
23603048 2013 Stimulation of CD107 affects LPS-induced cytokine secretion and cellular adhesion through the ERK signaling pathway in the human macrophage-like cell line, THP-1.
23533145 2013 In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
23492776 2013 Influence of microRNA deregulation on chaperone-mediated autophagy and ?-synuclein pathology in Parkinson's disease.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
23093945 2012 Regulation of ATG4B stability by RNF5 limits basal levels of autophagy and influences susceptibility to bacterial infection.
23071649 2012 The role of chaperone-mediated autophagy in huntingtin degradation.
22874552 2012 LAMP2A overexpression in breast tumors promotes cancer cell survival via chaperone-mediated autophagy.
22867958 2012 Genetic analysis of the LAMP-2 gene promoter in patients with sporadic Parkinson's disease.
22732524 2012 Age-related decrease of the LAMP-2 gene expression in human leukocytes.
22641697 2012 The lysosomal polypeptide transporter TAPL is stabilized by interaction with LAMP-1 and LAMP-2.
22541782 Danon disease caused by two novel mutations of the LAMP2 gene: implications for two ends of the clinical spectrum.
22365987 2012 Danon disease: a focus on processing of the novel LAMP2 mutation and comments on the beneficial use of peripheral white blood cells in the diagnosis of LAMP2 deficiency.
21896273 2011 Signal-peptide-peptidase-like 2a (SPPL2a) is targeted to lysosomes/late endosomes by a tyrosine motif in its C-terminal tail.
21514572 2011 Altered expression of autophagic genes in the peripheral leukocytes of patients with sporadic Parkinson's disease.
21462217 2011 LAMP-2 gene expression in peripheral leukocytes is increased in patients with coronary artery disease.
21269460 2011 Initial characterization of the human central proteome.
21161685 2011 Danon disease: intrafamilial phenotypic variability related to a novel LAMP-2 mutation.
20926008 Distribution of lysosome-associated membrane proteins-1 and -2, and cathepsin D in eosinophilic granular bodies: possible relationship to cyst development in pilocytic astrocytomas.
20920663 2010 Profound left ventricular remodeling associated with LAMP2 cardiomyopathy.
20797626 2010 Identification of regulators of chaperone-mediated autophagy.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20518820 2010 LAMP-2-deficient human B cells exhibit altered MHC class II presentation of exogenous antigens.
20513107 2010 A 13-year-old girl with proximal weakness and hypertrophic cardiomyopathy with Danon disease.
20176123 2010 Chaperone-mediated autophagy: molecular mechanisms and physiological relevance.
20173215 2010 LAMP2 microdeletions in patients with Danon disease.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19815536 2010 The Mycobacterium bovis bacille Calmette-Guerin phagosome proteome.
19535332 2009 Printor, a novel torsinA-interacting protein implicated in dystonia pathogenesis.
19533775 2009 Molecular analysis of PRKAG2, LAMP2, and NKX2-5 genes in a cohort of 125 patients with accessory atrioventricular connection.
19524015 2009 Altered expression of glycoproteins on the cell surface of Jurkat cells during etoposide-induced apoptosis: shedding and intracellular translocation of glycoproteins.
19362087 2009 Impaired autolysosome formation correlates with Lamp-2 depletion: role of apoptosis, autophagy, and necrosis in pancreatitis.
19343823 2009 Differential expression of LAMPs and ubiquitin in human thymus.
19159218 2009 Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.
19057086 2009 Novel LAMP-2 mutation in a family with Danon disease presenting with hypertrophic cardiomyopathy.
19056867 2009 Large-scale proteomics and phosphoproteomics of urinary exosomes.
18958159 2008 Effects of lysosomal membrane protein depletion on the Salmonella-containing vacuole.
18550537 2008 Aberrant interaction between Parkinson disease-associated mutant UCH-L1 and the lysosomal receptor for chaperone-mediated autophagy.
18403758 2008 Shared genetic causes of cardiac hypertrophy in children and adults.
18061453 2008 Danon disease: a novel Lamp-2 gene mutation in a family with four affected members.
18004770 2008 Danon disease due to a novel splice mutation in the LAMP2 gene.
17899313 2007 Danon disease presenting with dilated cardiomyopathy and a complex phenotype.
17897319 2007 Integral and associated lysosomal membrane proteins.
17873513 A novel vacuolar myopathy with dilated cardiomyopathy.
17506821 2007 Arrested maturation of Neisseria-containing phagosomes in the absence of the lysosome-associated membrane proteins, LAMP-1 and LAMP-2.
17296900 2007 Retinopathy in Danon disease.
17048695 2006 Lysosomal membrane-associated glycoproteins are differentially expressed in acute and chronic human thymic involution.
16570122 2005 Differential expression of ABH histo-blood group antigens and LAMPs in infantile hemangioma.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16335952 Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry.
16190986 2005 Unifying nomenclature for the isoforms of the lysosomal membrane protein LAMP-2.
16144992 2005 Danon disease as an underrecognized cause of hypertrophic cardiomyopathy in children.
15908444 2005 Exosomal-like vesicles are present in human blood plasma.
15907287 2005 Asymptomatic hyperCKemia in a case of Danon disease due to a missense mutation in Lamp-2 gene.
15894275 2005 Lamp-2a facilitates MHC class II presentation of cytoplasmic antigens.
15772651 2005 The DNA sequence of the human X chromosome.
15673802 2005 Glycogen storage diseases presenting as hypertrophic cardiomyopathy.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15340161 2004 Signal peptide prediction based on analysis of experimentally verified cleavage sites.
15297306 2004 The nucleotide transporter MRP4 (ABCC4) is highly expressed in human platelets and present in dense granules, indicating a role in mediator storage.
15229288 2004 Over-expression of Rififylin, a new RING finger and FYVE-like domain-containing protein, inhibits recycling from the endocytic recycling compartment.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14561493 2003 Characterization of Danon disease in a male patient and his affected mother.
12754519 2003 Identification and quantification of N-linked glycoproteins using hydrazide chemistry, stable isotope labeling and mass spectrometry.
12536145 2003 Identification of a novel domain in two mammalian inositol-polyphosphate 5-phosphatases that mediates membrane ruffle localization. The inositol 5-phosphatase skip localizes to the endoplasmic reticulum and translocates to membrane ruffles following epidermal growth factor stimulation.
12505983 2003 Cathepsin A regulates chaperone-mediated autophagy through cleavage of the lysosomal receptor.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12144129 CD107a (LAMP-1) and CD107b (LAMP-2).
11139587 2001 Signal-binding specificity of the mu4 subunit of the adaptor protein complex AP-4.
10972294 2000 Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease).
10222041 1999 Differential expression of the lysosome-associated membrane proteins in normal human tissues.
9746610 1998 Infection of epithelial cells by pathogenic neisseriae reduces the levels of multiple lysosomal constituents.
9668075 1998 Sorting of lysosomal membrane glycoproteins lamp-1 and lamp-2 into vesicles distinct from mannose 6-phosphate receptor/gamma-adaptin vesicles at the trans-Golgi network.
9010755 1996 Biosynthetic transport of a major lysosome-associated membrane glycoprotein 2, lamp-2: a significant fraction of newly synthesized lamp-2 is delivered to lysosomes by way of early endosomes.
8995204 1997 Distribution and subcellular localization of a lysosome-associated protein in human genital organs.
8743190 1996 The lysosomal granule membrane protein, LAMP-2, is also present in platelet dense granule membranes.
8662539 1996 A receptor for the selective uptake and degradation of proteins by lysosomes.
8660832 1996 Lysosome-associated membrane proteins h-LAMP1 (CD107a) and h-LAMP2 (CD107b) are activation-dependent cell surface glycoproteins in human peripheral blood mononuclear cells which mediate cell adhesion to vascular endothelium.
8517882 1993 The genes of major lysosomal membrane glycoproteins, lamp-1 and lamp-2. 5'-flanking sequence of lamp-2 gene and comparison of exon organization in two genes.
8407947 1993 Molecular and cellular characterization of Mex-/methylation-resistant phenotype. Gene and cDNA cloning, serum dependence, and tumor suppression of transfectant strains.
8323299 1993 Assignment of O-glycan attachment sites to the hinge-like regions of human lysosomal membrane glycoproteins lamp-1 and lamp-2.
7999007 1994 Complete cDNA sequence of human lysosome-associated membrane protein-2.
7488019 1995 An alternatively spliced form of the human lysosome-associated membrane protein-2 gene is expressed in a tissue-specific manner.
7487911 1995 The lysosomal membrane glycoproteins Lamp-1 and Lamp-2 are present in mobilizable organelles, but are absent from the azurophil granules of human neutrophils.
3198605 1988 Cloning of cDNAs encoding human lysosomal membrane glycoproteins, h-lamp-1 and h-lamp-2. Comparison of their deduced amino acid sequences.
2912382 1989 Purification and characterization of human lysosomal membrane glycoproteins.
2332441 1990 Two human lysosomal membrane glycoproteins, h-lamp-1 and h-lamp-2, are encoded by genes localized to chromosome 13q34 and chromosome Xq24-25, respectively.
2243102 1990 The polylactosaminoglycans of human lysosomal membrane glycoproteins lamp-1 and lamp-2. Localization on the peptide backbones.
2032724 1991 The nucleotide sequence of a CpG island demonstrates the presence of the first exon of the gene encoding the human lysosomal membrane protein lamp2 and assigns the gene to Xq24.
1959930 1991 Confirmation of the chromosomal localization of human lamp genes and their exclusion as candidate genes for Salla disease.
1435334 1992 Isolation of dense granules from human platelets.