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LAMP2 Gene

protein-coding   GIFtS: 71
GCID: GC0XM119560

Lysosomal-Associated Membrane Protein 2

  See LAMP2-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Lysosomal-Associated Membrane Protein 21 2     CD107b2
LAMP-22 3     Lysosome-Associated Membrane Glycoprotein 22
CD107 Antigen-Like Family Member B2 3     CD107b Antigen3
LAMPB2 5     Lysosome-Associated Membrane Protein 23
LGP1102 5     

External Ids:    HGNC: 65011   Entrez Gene: 39202   Ensembl: ENSG000000058937   OMIM: 3090605   UniProtKB: P134733   

Export aliases for LAMP2 gene to outside databases

Previous GC identifers: GC0XM114382 GC0XM116550 GC0XM117540 GC0XM118318 GC0XM119346 GC0XM119448 GC0XM109011


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for LAMP2 Gene:
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)

GeneCards Summary for LAMP2 Gene:
LAMP2 (lysosomal-associated membrane protein 2) is a protein-coding gene. Diseases associated with LAMP2 include danon disease, and salla disease. An important paralog of this gene is LAMP1.

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. Protects cells from the toxic effects of
methylating mutagens

Gene Wiki entry for LAMP2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000023.10  NC_018934.2  NT_011786.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the LAMP2 gene promoter:
         TBP   RFX1   AP-2alpha isoform 3   Nkx2-2   NCX/Ncx   AP-2alpha isoform 2   TFIID   AP-2alpha isoform 4   AP-2alpha   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidLAMP2 promoter sequence
   Search Chromatin IP Primers for LAMP2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat LAMP2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xq24   Ensembl cytogenetic band:  Xq24   HGNC cytogenetic band: Xq24-q25

LAMP2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
LAMP2 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM119560:  view genomic region     (about GC identifiers)

Start:
119,560,003 bp from pter      End:
119,603,220 bp from pter
Size:
43,218 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: LAMP2_HUMAN, P13473 (See protein sequence)
Recommended Name: Lysosome-associated membrane glycoprotein 2 precursor  
Size: 410 amino acids; 44961 Da
Secondary accessions: A8K4X5 D3DTF0 Q16641 Q6Q3G8 Q96J30 Q99534 Q9UD93
Alternative splicing: 3 isoforms:  P13473-1   P13473-2   P13473-3   

Explore the universe of human proteins at neXtProt for LAMP2: NX_P13473

Explore proteomics data for LAMP2 at MOPED

Post-translational modifications: 

  • O- and N-glycosylated; some of the 16 N-linked glycans are polylactosaminoglycans1
  • Glycosylation2 at Asn32, Asn38, Asn49, Asn58, Asn75, Asn101, Asn123, Asn179, Ser195, Thr196,
                                 Thr200, Thr203, Thr204, Ser207, Thr209, Thr210, Thr211, Thr213, Asn229, Asn242 (see all 26)
  • Modification sites at PhosphoSitePlus

  • See LAMP2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001116078.1  NP_002285.1  NP_054701.1  

    ENSEMBL proteins: 
     ENSP00000408411   ENSP00000200639   ENSP00000431526   ENSP00000360386   ENSP00000440506  
     ENSP00000440479  
    Reactome Protein details: P13473

    LAMP2 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for LAMP2

     
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    Search eBioscience for ELISAs for LAMP2 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    CD: CD molecules

    2 InterPro protein domains:
     IPR018134 LAMP_CS
     IPR002000 Lysosome-assoc_membr_glycop

    Graphical View of Domain Structure for InterPro Entry P13473

    ProtoNet protein and cluster: P13473

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

    UniProtKB/Swiss-Prot: LAMP2_HUMAN, P13473
    Similarity: Belongs to the LAMP family


    Find genes that share domains with LAMP2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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. Protects cells from the toxic effects of
    methylating mutagens

         Genatlas biochemistry entry for LAMP2:
    lysosomal associated membrane protein 2

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0019899enzyme binding IPI--
         
    Find genes that share ontologies with LAMP2           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for LAMP2:
     Increased gamma-H2AX phosphory 

         13 MGI mutant phenotypes (inferred from 1 allele(MGI details for Lamp2):
     cardiovascular system  cellular  craniofacial  growth/size/body  hematopoietic system 
     homeostasis/metabolism  immune system  integument  mortality/aging  muscle 
     nervous system  reproductive system  skeleton 

    Find genes that share phenotypes with LAMP2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Lamp2tm1Psa for LAMP2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for LAMP2
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    miRNA
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    miRTarBase miRNAs that target LAMP2:
    hsa-mir-21-5p (MIRT030821), hsa-mir-124-3p (MIRT022427), hsa-mir-16-5p (MIRT031571), hsa-mir-103a-3p (MIRT027054)

    Block miRNA regulation of human, mouse, rat LAMP2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate LAMP2 (see all 56):
    hsa-miR-140-5p hsa-miR-2052 hsa-miR-193a-3p hsa-let-7d hsa-miR-376b hsa-miR-15a hsa-miR-25 hsa-miR-3653
    SwitchGear 3'UTR luciferase reporter plasmidLAMP2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat LAMP2

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    eBioscience FlowRNA Probe Sets ( VA1-12263) for LAMP2 


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    LAMP2_HUMAN, P13473: Cell membrane; Single-pass type I membrane protein. Endosome membrane; Single-pass type I
    membrane protein. Lysosome membrane; Single-pass type I membrane protein. Note=This protein shuttles between
    lysosomes, endosomes, and the plasma membrane
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endosome5
    lysosome5
    plasma membrane5
    vacuole5
    endoplasmic reticulum2
    extracellular2
    golgi apparatus2
    cytoskeleton1
    mitochondrion1

    Gene Ontology (GO): Selected cellular component terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005764lysosome IDA12536145
    GO:0005765lysosomal membrane IDA15297306
    GO:0005770late endosome IDA15229288
    GO:0005886plasma membrane TAS--
    GO:0016020membrane IDA15297306

    Find genes that share ontologies with LAMP2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for LAMP2 About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Response to elevated platelet cytosolic Ca2+
    Response to elevated platelet cytosolic Ca2+0.94
    Platelet degranulation0.94
    2Hemostasis
    Hemostasis0.43
    Platelet activation, signaling and aggregation0.43
    3Tuberculosis
    Tuberculosis
    4Senescence and Autophagy
    Senescence and Autophagy
    5Phagosome
    Phagosome


    Find genes that share SuperPaths with LAMP2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for LAMP2
        Senescence and Autophagy


    1 Reactome Pathway for LAMP2
        Platelet degranulation


    3 Kegg Pathways  (Kegg details for LAMP2):
        Lysosome
    Phagosome
    Tuberculosis

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for LAMP2
    Interactions:

        GeneGlobe Interaction Network for LAMP2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for LAMP2 (P134732, 3 ENSP000004084114) via UniProtKB, MINT, STRING, and/or I2D (see all 37)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ADRB2P075502, 3, ENSP000003053724MINT-7291650 I2D: score=1 STRING: ENSP00000305372
    SOD1P004412, 3, ENSP000002701424MINT-8143734 I2D: score=1 STRING: ENSP00000270142
    ENSG00000206379O759553, ENSP000003728734I2D: score=1 STRING: ENSP00000372873
    ENSG00000232280O759553, ENSP000003914384I2D: score=1 STRING: ENSP00000391438
    FLOT1O759553, ENSP000003655694I2D: score=1 STRING: ENSP00000365569
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002576platelet degranulation TAS--
    GO:0007596blood coagulation TAS--
    GO:0030168platelet activation TAS--
    GO:0050821protein stabilization ISS--

    Find genes that share ontologies with LAMP2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for LAMP2

    6 Novoseek inferred chemical compound relationships for LAMP2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mannose 6-phosphate 55 2 1845800 (1), 11404461 (1)
    n-acetyllactosamine 52.5 3 2243102 (1), 2243101 (1)
    glycogen 49.4 6 11552028 (1), 15907287 (1), 17642461 (1), 18691923 (1) (see all 5)
    sucrose 10.5 3 1845800 (1), 1520873 (1), 19679094 (1)
    dextran 9.77 1 11067894 (1)
    cholesterol 0 2 10666334 (1), 11032830 (1)



    Find genes that share compounds with LAMP2           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for LAMP2 gene (3 alternative transcripts): 
    NM_001122606.1  NM_002294.2  NM_013995.2  

    Unigene Cluster for LAMP2:

    Lysosomal-associated membrane protein 2
    Hs.496684  [show with all ESTs]
    Unigene Representative Sequence: NM_002294
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000434600(uc004est.4 uc004ess.4 uc011mtz.2) ENST00000200639
    ENST00000486593 ENST00000371335(uc011mua.1 uc010nqp.1) ENST00000538785
    ENST00000540603
    miRNA
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    hsa-miR-140-5p hsa-miR-2052 hsa-miR-193a-3p hsa-let-7d hsa-miR-376b hsa-miR-15a hsa-miR-25 hsa-miR-3653
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    Primer
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    Additional mRNA sequence: 

    AK126232.1 AK291090.1 AK293931.1 AK295038.1 AK304405.1 AY561849.1 BC002965.1 BC040653.2 
    BX648255.1 J04183.1 S79873.1 U36336.1 X77196.1 

    Selected DOTS entries (see all 50):

    DT.92457710  DT.95371837  DT.95371865  DT.314812  DT.121318838  DT.100673206  DT.120007  DT.92457699 
    DT.121318831  DT.95215613  DT.95371856  DT.121318841  DT.121318801  DT.95371845  DT.92457712  DT.100033580 
    DT.121318813  DT.100858615  DT.100886554  DT.121318819  DT.91744068  DT.121318774  DT.100733496  DT.121318814 

    Selected AceView cDNA sequences (see all 809):

    CD370599 F04863 AV709000 AI753952 AI356009 CD365703 AI221464 CB266012 
    AI767340 BE463641 BG169056 BX399392 AA917919 AA348116 BX399393 BU686522 
    BU789521 AA771741 AW072676 AY561849 AA788977 CA432942 AA593892 BX482027 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for LAMP2 (see all 13)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c ^ 3a · 3b ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b · 6c · 6d ^ 7a · 7b · 7c · 7d · 7e ^ 8a · 8b ^ 9 ^ 10a ·
    SP1:                                                                          -                                                                                 
    SP2:                                                                          -                                                                                 
    SP3:                                                                                                                                                            
    SP4:                                                              -     -     -     -     -     -     -     -     -     -     -     -     -                     
    SP5:                                                  -     -     -     -     -     -     -     -     -     -     -                                             

    ExUns: 10b ^ 11a · 11b ^ 12a · 12b · 12c ^ 13
    SP1:        -     -                           
    SP2:        -     -     -     -     -         
    SP3:                                          
    SP4:                                          
    SP5:                                          


    ECgene alternative splicing isoforms for LAMP2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    LAMP2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCCATTATAA
    LAMP2 Expression
    About this image


    LAMP2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 19) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
     
     Ovary (Reproductive System)
             Oviduct
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    LAMP2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    LAMP2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.496684

    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

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    OriGene qPCR primer pairs and template standards for LAMP2
    OriGene qSTAR qPCR primer pairs in human, mouse for LAMP2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat LAMP2
    QuantiTect SYBR Green Assays in human, mouse, rat LAMP2
    QuantiFast Probe-based Assays in human, mouse, rat LAMP2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LAMP2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for LAMP2 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Lamp21 , 5 lysosomal-associated membrane protein 21, 5 74.46(n)1
    61.94(a)1
      X (22.67 cM)5
    167841  NM_010685.31  NP_034815.21 
     384013575 
    chicken
    (Gallus gallus)
    Aves LAMP21 lysosomal-associated membrane protein 2 58.81(n)
    49.12(a)
      414800  NM_001001749.1  NP_001001749.1 
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.308952 Xenopus laevis transcribed sequence with weak similarity more 76.92(n)    CA985629.1 
    zebrafish
    (Danio rerio)
    Actinopterygii lamp26
    lysosomal membrane glycoprotein 2
    32(a)
    1 ↔ 1
    14(34448790-34456576) ENSDARG00000014914
    fruit fly
    (Drosophila melanogaster)
    Insecta Lamp16
    Lamp1
    21(a)
    1 → many
    2L(21573389-21577103)


    ENSEMBL Gene Tree for LAMP2 (if available)
    TreeFam Gene Tree for LAMP2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for LAMP2 gene
    LAMP12  LAMP32  CD682  
    1 SIMAP similar gene for LAMP2 using alignment to 4 protein entries:     LAMP2_HUMAN (see all proteins):
    LAMP1

    Find genes that share paralogs with LAMP2           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for LAMP2 (see all 626)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0262304
    Danon disease (DAND)4--see VAR_0262302 W R mis40--------
    rs1048948591,2
    Cpathogenic1119569602(-) GCTACC/TGGGAT 6 R W mis10--------
    rs1048948581,2
    Cpathogenic1119570339(-) GCTCCA/GGTAAG 6 I V mis10--------
    rs1048948571,2
    Cpathogenic1119576746(-) TTGTAC/TAAGCT 6 Q * stg10--------
    rs128344701,2
    C,F,A--119553449(+) AAATTG/AAGCAT 2 -- ds50015Minor allele frequency- A:0.25NA WA CSA 8
    rs128403861,2
    C,F,A--119553475(+) GGAATG/TTAAAG 2 -- ds50013Minor allele frequency- T:0.40NA CSA 5
    rs1508259061,2
    C--119553599(+) ATACGC/TGGAAA 2 -- ds50010--------
    rs1904559521,2
    C--119553816(+) ATTCAA/CGAAAC 2 -- ds50010--------
    rs1132850131,2
    C,F--119554017(+) ATACAT/ACCAAA 2 -- ut311Minor allele frequency- A:0.50WA 2
    rs27481,2
    C,F,O,A,H--119554027(+) AACTTT/CAGTTA 2 -- ut3117Minor allele frequency- C:0.29MN NS EA NA 2353

    HapMap Linkage Disequilibrium report for LAMP2 (119560003 - 119603220 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for LAMP2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2659227CNV Deletion23128226
    esv2740433CNV Deletion23290073
    nsv528786CNV Gain19592680
    dgv2470e1CNV Complex17122850

    Human Gene Mutation Database (HGMD): LAMP2
    Locus Specific Mutation Databases (LSDB): LAMP2

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing LAMP2
    DNA2.0 Custom Variant and Variant Library Synthesis for LAMP2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 309060   
    OMIM disorders: 300257  
    UniProtKB/Swiss-Prot: LAMP2_HUMAN, P13473
  • Danon disease (DAND) [MIM:300257]: 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. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 3 diseases for LAMP2:    
    About MalaCards
    danon disease    salla disease    vacuolar myopathy

    5 diseases from the University of Copenhagen DISEASES database for LAMP2:
    Danon disease     Hypertrophic cardiomyopathy     Myopathy     Glycogen storage disease
    Intellectual disability

    Find genes that share disorders with LAMP2           About GenesLikeMe

    Selected Novoseek inferred disease relationships for LAMP2 gene (see all 16)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    danon disease 98.6 49 18282207 (4), 11427988 (3), 20173215 (3), 18004770 (2) (see all 30)
    myopathy 76.1 17 16565504 (2), 15907287 (2), 18376150 (1), 15889279 (1) (see all 11)
    lysosomal acid phosphatase 73.5 2 9746610 (1), 8370478 (1)
    pompe disease 69.7 1 15673802 (1)
    glycogen storage disease 68.4 3 11552028 (1), 18691923 (1), 16973206 (1)
    cardiomyopathy 62.9 11 19318653 (4), 18376150 (1), 15907287 (1), 15889279 (1) (see all 8)
    hermansky-pudlak syndrome 62.6 1 8743190 (1)
    mental retardation 53 4 16565504 (1), 18004770 (1), 15907287 (1), 16217705 (1)
    protein deficiency 51.3 8 16565504 (3), 18393115 (1), 15907287 (1)
    dilated cardiomyopathy 43 1 17541230 (1)

    Genetic Association Database (GAD): LAMP2
    Human Genome Epidemiology (HuGE) Navigator: LAMP2 (5 documents)

    Export disorders for LAMP2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

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    PubMed articles for LAMP2 gene, integrated from 10 sources (see all 206) (see top 10):
    (articles sorted by number of sources associating them with LAMP2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Glycogen storage diseases presenting as hypertrophic cardiomyopathy. (PubMed id 15673802)1, 2, 9 Arad M....Seidman J.G. (N. Engl. J. Med. 2005)
    2. Asymptomatic hyperCKemia in a case of Danon disease due to a missense mutation in Lamp-2 gene. (PubMed id 15907287)1, 2, 9 Musumeci O.... Toscano A. (Neuromuscul. Disord. 2005)
    3. The polylactosaminoglycans of human lysosomal membrane glycoproteins lamp-1 and lamp-2. Localization on the peptide backbones. (PubMed id 2243102)1, 2, 9 Carlsson S.R. and Fukuda M. (J. Biol. Chem. 1990)
    4. Unifying nomenclature for the isoforms of the lysosomal membrane protein LAMP-2. (PubMed id 16190986)1, 2, 9 Eskelinen E.L....Saftig P. (Traffic 2005)
    5. Shared genetic causes of cardiac hypertrophy in children and adults. (PubMed id 18403758)1, 4, 9 Morita H.... Seidman C.E. (N. Engl. J. Med. 2008)
    6. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    7. Integral and associated lysosomal membrane proteins. (PubMed id 17897319)1, 2 Schroeder B.... Hasilik A. (Traffic 2007)
    8. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (Nature 2005)
    9. Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PubMed id 16335952)1, 2 Liu T.... Smith R.D. (J. Proteome Res. 2005)
    10. Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PubMed id 15340161)1, 2 Zhang Z. and Henzel W.J. (Protein Sci. 2004)
    11. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    12. Identification and quantification of N-linked glycoproteins using hydrazide chemistry, stable isotope labeling and mass spectrometry. (PubMed id 12754519)1, 2 Zhang H.... Aebersold R. (Nat. Biotechnol. 2003)
    13. An alternatively spliced form of the human lysosome-associated membrane protein-2 gene is expressed in a tissue-specific manner. (PubMed id 7488019)1, 2 Konecki D.S....Lichter-Konecki U. (Biochem. Biophys. Res. Commun. 1995)
    14. Complete cDNA sequence of human lysosome-associated membrane protein- 2. (PubMed id 7999007)1, 2 Konecki D.S.... Lichter-Konecki U. (Biochem. Biophys. Res. Commun. 1994)
    15. 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. (PubMed id 8517882)1, 2 Sawada R.... Fukuda M. (J. Biol. Chem. 1993)
    16. Assignment of O-glycan attachment sites to the hinge-like regions of human lysosomal membrane glycoproteins lamp-1 and lamp-2. (PubMed id 8323299)1, 2 Carlsson S.R.... Fukuda M. (Arch. Biochem. Biophys. 1993)
    17. Purification and characterization of human lysosomal membrane glycoproteins. (PubMed id 2912382)1, 2 Mane S.M.... August J.T. (Arch. Biochem. Biophys. 1989)
    18. Cloning of cDNAs encoding human lysosomal membrane glycoproteins, h- lamp-1 and h-lamp-2. Comparison of their deduced amino acid sequences. (PubMed id 3198605)1, 2 Fukuda M.... Carlsson S.R. (J. Biol. Chem. 1988)
    19. The lysosomal granule membrane protein, LAMP-2, is also present in platelet dense granule membranes. (PubMed id 8743190)1, 9 Israels S.J....McNicol A. (Thromb. Haemost. 1996)
    20. 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. (PubMed id 8660832)1, 9 Kannan K....Holcombe R.F. (Cell. Immunol. 1996)
    21. LAMP2 microdeletions in patients with Danon disease. (PubMed id 20173215)1, 9 Yang Z....Vatta M. (Circ Cardiovasc Genet 2010)
    22. Impaired autolysosome formation correlates with Lamp-2 depletion: role of apoptosis, autophagy, and necrosis in pancreatitis. (PubMed id 19362087)1, 9 Fortunato F....Werner J. (Gastroenterology 2009)
    23. Arrested maturation of Neisseria-containing phagosomes in the absence of the lysosome-associated membrane proteins, LAMP-1 and LAMP-2. (PubMed id 17506821)1, 9 Binker M.G....Gray-Owen S.D. (Cell. Microbiol. 2007)
    24. Differential expression of the lysosome-associated membrane proteins in normal human tissues. (PubMed id 10222041)1, 9 Furuta K....August J.T. (Arch. Biochem. Biophys. 1999)
    25. Effects of lysosomal membrane protein depletion on the Salmonella-containing vacuole. (PubMed id 18958159)1, 9 Roark E.A. and Haldar K. (PLoS ONE 2008)
    26. The lysosomal membrane glycoproteins Lamp-1 and Lamp-2 are present in mobilizable organelles, but are absent from the azurophil granules of human neutrophils. (PubMed id 7487911)1, 9 Dahlgren C....SjAPlin C. (Biochem. J. 1995)
    27. Danon disease due to a novel splice mutation in the LAMP2 gene. (PubMed id 18004770)1, 9 Nadeau A....Sinnreich M. (amp 2008)
    28. Lysosomal membrane-associated glycoproteins are differentially expressed in acute and chronic human thymic involution. (PubMed id 17048695)1, 9 Sarafian V.S. and Marinova T.T. (Acta. Biol. Hung. 2006)
    29. Infection of epithelial cells by pathogenic neisseriae reduces the levels of multiple lysosomal constituents. (PubMed id 9746610)1, 9 Ayala P....So M. (Infect. Immun. 1998)
    30. A 13-year-old girl with proximal weakness and hypertrophic cardiomyopathy with Danon disease. (PubMed id 20513107)1, 9 Kim H....Chae J.H. (amp 2010)
    31. Novel LAMP-2 mutation in a family with Danon disease presenting with hypertrophic cardiomyopathy. (PubMed id 19057086)1, 9 Dougu N....Inoue H. (Circ. J. 2009)
    32. Differential expression of LAMPs and ubiquitin in human thymus. (PubMed id 19343823)1, 9 Sarafian V.S....Gulubova M.V. (APMIS 2009)
    33. Retinopathy in Danon disease. (PubMed id 17296900)1, 9 Schorderet D.F....Munier F.L. (Arch. Ophthalmol. 2007)
    34. Molecular analysis of PRKAG2, LAMP2, and NKX2-5 genes in a cohort of 125 patients with accessory atrioventricular connection. (PubMed id 19533775)1, 9 Esposito G....Dallapiccola B. (Am. J. Med. Genet. A 2009)
    35. Danon disease: a novel Lamp-2 gene mutation in a family with four affected members. (PubMed id 18061453)1, 9 TuA+A^n T....Imizcoz M.A. (Neuromuscul. Disord. 2008)
    36. Lamp-2a facilitates MHC class II presentation of cytoplasmic antigens. (PubMed id 15894275)1, 9 Zhou D....Blum J.S. (Immunity 2005)
    37. Danon disease as an underrecognized cause of hypertrophic cardiomyopathy in children. (PubMed id 16144992)1, 9 Yang Z....Bowles N.E. (Circulation 2005)
    38. Characterization of Danon disease in a male patient and his affected mother. (PubMed id 14561493)1, 9 Sugie K....Nishino I. (Neuromuscul. Disord. 2003)
    39. A novel vacuolar myopathy with dilated cardiomyopathy. (PubMed id 17873513)1, 9 Sugimoto S. (Autophagy 2007)
    40. Lysosome-associated protein 1 (LAMP-1) and Lysosome-associated protein 2 (LAMP-2) in a larger family carrier of Fabry disease. (PubMed id 24334114)1 Pereira E.M....da Silva A.S. (Gene 2014)
    41. 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. (PubMed id 23603048)1 Min B.K....Lee W.H. (Cell. Immunol. 2013)
    42. Protein interaction discovery using parallel analysis of translated ORFs (PLATO). (PubMed id 23503679)1 Zhu J....Elledge S.J. (Nat. Biotechnol. 2013)
    43. A newly uncovered group of distantly related lysine methyltransferases preferentially interact with molecular chaperones to regulate their activity. (PubMed id 23349634)1 Cloutier P.... Coulombe B. (PLoS Genet. 2013)
    44. Lysosomal-associated membrane protein-2 plays an important role in the pathogenesis of primary cutaneous vasculitis. (PubMed id 23704322)1 Takeuchi S....Kawakami T. (Rheumatology (Oxford) 2013)
    45. Influence of microRNA deregulation on chaperone-mediated autophagy and I+-synuclein pathology in Parkinson's disease. (PubMed id 23492776)1 Alvarez-Erviti L....Cooper J.M. (amp 2013)
    46. STUB1/CHIP is required for HIF1A degradation by chaperone-mediated autophagy. (PubMed id 23880665)1 Ferreira J.V....Pereira P. (Autophagy 2013)
    47. A high-throughput approach for measuring temporal changes in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (Nat. Methods 2012)
    48. Danon disease caused by two novel mutations of the LAMP2 gene: implications for two ends of the clinical spectrum. (PubMed id 22541782)1 Hong D....Yuan Y. (Clin. Neuropathol. 2012)
    49. LAMP2A overexpression in breast tumors promotes cancer cell survival via chaperone-mediated autophagy. (PubMed id 22874552)1 Saha T. (Autophagy 2012)
    50. The role of chaperone-mediated autophagy in huntingtin degradation. (PubMed id 23071649)1 Qi L....Qin Z.H. (PLoS ONE 2012)
    51. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    52. Genetic analysis of the LAMP-2 gene promoter in patients with sporadic Parkinson's disease. (PubMed id 22867958)1 Pang S....Yan B. (Neurosci. Lett. 2012)
    53. The lysosomal polypeptide transporter TAPL is stabilized by interaction with LAMP-1 and LAMP-2. (PubMed id 22641697)1 Demirel A.9....Abele R. (J. Cell. Sci. 2012)
    54. 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. (PubMed id 22365987)1 Majer F....Sikora J. (Gene 2012)
    55. Age-related decrease of the LAMP-2 gene expression in human leukocytes. (PubMed id 22732524)1 Huang J....Yan B. (Clin. Biochem. 2012)
    56. Vpu mediates depletion of interferon regulatory factor 3 during HIV infection by a lysosome-dependent mechanism. (PubMed id 22593165)1 Doehle B.P....Gale M. (J. Virol. 2012)
    57. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    58. Altered expression of autophagic genes in the peripheral leukocytes of patients with sporadic Parkinson's disease. (PubMed id 21514572)1 Wu G....Yan B. (Brain Res. 2011)
    59. LAMP-2 gene expression in peripheral leukocytes is increased in patients with coronary artery disease. (PubMed id 21462217)1 Wu G....Yan B. (Clin Cardiol 2011)
    60. Toward an understanding of the protein interaction network of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (Mol. Syst. Biol. 2011)
    61. ErbB2-associated changes in the lysosomal proteome. (PubMed id 21674799)1 Nylandsted J....JAoAottelAo M. (Proteomics 2011)
    62. Danon disease: intrafamilial phenotypic variability related to a novel LAMP-2 mutation. (PubMed id 21161685)1 Cottinet S.L....Labarthe F. (J. Inherit. Metab. Dis. 2011)
    63. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)
    64. The Mycobacterium bovis bacille Calmette-Guerin phagosome proteome. (PubMed id 19815536)1 Lee B.Y....Horwitz M.A. (amp 2010)
    65. Distribution of lysosome-associated membrane proteins-1 and -2, and cathepsin D in eosinophilic granular bodies: possible relationship to cyst development in pilocytic astrocytomas. (PubMed id 20926008)1 Tung J.N....Jiang M.C. (J. Int. Med. Res. 2010)
    66. HIV Nef is secreted in exosomes and triggers apoptosis in bystander CD4+ T cells. (PubMed id 19912576)1 Lenassi M....Peterlin B.M. (Traffic 2010)
    67. Hispolon promotes MDM2 downregulation through chaperone-mediated autophagy. (PubMed id 20540933)1 Lu T.L....Lu T.J. (Biochem. Biophys. Res. Commun. 2010)
    68. Profound left ventricular remodeling associated with LAMP2 cardiomyopathy. (PubMed id 20920663)1 Maron B.J....Feldman D.S. (Am. J. Cardiol. 2010)
    69. Characterization of PXK as a protein involved in epidermal growth factor receptor trafficking. (PubMed id 20086096)1 Takeuchi H....Hirata M. (Mol. Cell. Biol. 2010)
    70. LAMP-2-deficient human B cells exhibit altered MHC class II presentation of exogenous antigens. (PubMed id 20518820)1 Crotzer V.L....Blum J.S. (Immunology 2010)
    71. Danon disease: case report and detection of new mutation. (PubMed id 19588270)1 Regelsberger G....Bernheimer H. (J. Inherit. Metab. Dis. 2009)
    72. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (EMBO J. 2009)
    73. Deficiency of niemann-pick type C-1 protein impairs release of human immunodeficiency virus type 1 and results in Gag accumulation in late endosomal/lysosomal compartments. (PubMed id 19474101)1 Tang Y....Hildreth J.E. (J. Virol. 2009)
    74. Altered expression of glycoproteins on the cell surface of Jurkat cells during etoposide-induced apoptosis: shedding and intracellular translocation of glycoproteins. (PubMed id 19524015)1 Sato H....Matsumoto K. (Biochim. Biophys. Acta 2009)
    75. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)1 Talmud P.J.... . (Am. J. Hum. Genet. 2009)
    76. Printor, a novel torsinA-interacting protein implicated in dystonia pathogenesis. (PubMed id 19535332)1 Giles L.M.... Chin L.S. (J. Biol. Chem. 2009)
    77. Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry. (PubMed id 19159218)2 Chen R.... Zou H. (J. Proteome Res. 2009)
    78. 15-Deoxy-Delta(12,14)-prostaglandin-J(2) reveals a new pVHL-independent, lysosomal-dependent mechanism of HIF-1alpha degradation. (PubMed id 19458911)1 Olmos G....Lucio-CazaA+a J. (Cell. Mol. Life Sci. 2009)
    79. The PA-TM-RING protein RING finger protein 13 is an endosomal integral membrane E3 ubiquitin ligase whose RING finger domain is released to the cytoplasm by proteolysis. (PubMed id 19292867)1 Bocock J.P....Erickson A.H. (FEBS J. 2009)
    80. Large-scale proteomics and phosphoproteomics of urinary exosomes. (PubMed id 19056867)1 Gonzales P.A....Knepper M.A. (J. Am. Soc. Nephrol. 2009)
    81. Aberrant interaction between Parkinson disease-associated mutant UCH-L1 and the lysosomal receptor for chaperone-mediated autophagy. (PubMed id 18550537)1 Kabuta T....Wada K. (J. Biol. Chem. 2008)
    82. Insights into links between familial and sporadic Parkinson's disease: physical relationship between UCH-L1 variants and chaperone-mediated autophagy. (PubMed id 18635949)1 Kabuta T. and Wada K. (Autophagy 2008)
    83. Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study. (PubMed id 17903294)4 Yang Q....O'Donnell C.J. (BMC Med. Genet. 2007)
    84. Danon disease presenting with dilated cardiomyopathy and a complex phenotype. (PubMed id 17899313)1 Taylor M.R....Mestroni L. (J. Hum. Genet. 2007)
    85. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)
    86. Differential expression of ABH histo-blood group antigens and LAMPs in infantile hemangioma. (PubMed id 16570122)1 Sarafian V....Stefanova P. (J. Mol. Histol. 2005)
    87. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 2004)
    88. The nucleotide transporter MRP4 (ABCC4) is highly expressed in human platelets and present in dense granules, indicating a role in mediator storage. (PubMed id 15297306)1 Jedlitschky G....Kroemer H.K. (Blood 2004)
    89. Over-expression of Rififylin, a new RING finger and FYVE-like domain-containing protein, inhibits recycling from the endocytic recycling compartment. (PubMed id 15229288)1 Coumailleau F....Cohen-Tannoudji M. (Mol. Biol. Cell 2004)
    90. Impaired degradation of mutant alpha-synuclein by chaperone-mediated autophagy. (PubMed id 15333840)1 Cuervo A.M....Sulzer D. (Science 2004)
    91. 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. (PubMed id 12536145)1 Gurung R.... Mitchell C.A. (J. Biol. Chem. 2003)
    92. Cathepsin A regulates chaperone-mediated autophagy through cleavage of the lysosomal receptor. (PubMed id 12505983)1 Cuervo A.M....Dice J.F. (EMBO J. 2003)
    93. CD107a (LAMP-1) and CD107b (LAMP-2). (PubMed id 12144129)1 Chang M.H....Meikle P.J. (J. Biol. Regul. Homeost. Agents 2002)
    94. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    95. Signal-binding specificity of the mu4 subunit of the adaptor protein complex, AP-4. (PubMed id 11139587)1 Aguilar R.C.... Bonifacino J.S. (J. Biol. Chem. 2001)
    96. Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease). (PubMed id 10972294)1 Nishino I....Hirano M. (Nature 2000)
    97. 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. (PubMed id 9668075)1 Karlsson K. and Carlsson S.R. (J. Biol. Chem. 1998)
    98. Distribution and subcellular localization of a lysosome-associated protein in human genital organs. (PubMed id 8995204)1 AumA1ller G....Hasilik A. (Cell Tissue Res. 1997)
    99. 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. (PubMed id 9010755)1 Akasaki K....Tsuji H. (J. Biochem. 1996)
    100. Molecular and cellular characterization of Mex-/methylation-resistant phenotype. Gene and cDNA cloning, serum dependence, and tumor suppression of transfectant strains. (PubMed id 8407947)2 Fritz G.... Kaina B. (J. Biol. Chem. 1993)
    101. Isolation of dense granules from human platelets. (PubMed id 1435334)1 Fukami M.H. (Meth. Enzymol. 1992)
    102. 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. (PubMed id 2032724)1 Manoni M....Vezzoni P. (Genomics 1991)
    103. Confirmation of the chromosomal localization of human lamp genes and their exclusion as candidate genes for Salla disease. (PubMed id 1959930)1 Schleutker J....Aula P. (Hum. Genet. 1991)
    104. 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. (PubMed id 2332441)1 Mattei M.G....Fukuda M. (J. Biol. Chem. 1990)
    105. Roles of LAMP-1 and LAMP-2 in lysosome biogenesis and autophagy. (PubMed id 16973206)9 Eskelinen E.L. (Mol. Aspects Med. 2006)
    106. Generalized lysosome-associated membrane protein-2 defect explains multisystem clinical involvement and allows leukocyte diagnostic screening in Danon disease. (PubMed id 16565504)9 Fanin M....Angelini C. (Am. J. Pathol. 2006)
    107. Disease model: LAMP-2 enlightens Danon disease. (PubMed id 11427988)9 Saftig P....von Figura K. (Trends Mol Med 2001)
    108. Evaluation of the lysosome-associated membrane protein LAMP-2 as a marker for lysosomal storage disorders. (PubMed id 9761240)9 Hua C.T....Meikle P.J. (Clin. Chem. 1998)
    109. Cell surface expression of lysosome-associated membrane proteins (LAMPs) in scleroderma: relationship of lamp2 to disease duration, anti-Sc170 antibodies, serum interleukin-8, and soluble interleukin-2 receptor levels. (PubMed id 8443983)9 Holcombe R.F....Wolf R.E. (Clin. Immunol. Immunopathol. 1993)
    110. Danon disease: a novel LAMP2 mutation affecting the pre-mRNA splicing and causing aberrant transcripts and partial protein expression. (PubMed id 18990578)9 Di Blasi C....Mora M. (Neuromuscul. Disord. 2008)
    111. LAMP-2: a control step for phagosome and autophagosome maturation. (PubMed id 18376150)9 Saftig P....Eskelinen E.L. (Autophagy 2008)
    112. Molecular mimicry in pauci-immune focal necrotizing glomerulonephritis. (PubMed id 18836458)9 Kain R....Kerjaschki D. (Nat. Med. 2008)
    113. Phagosome maturation in unicellular eukaryote Paramecium: the presence of RILP, Rab7 and LAMP-2 homologues. (PubMed id 17921111)9 Wyroba E....Wiejak J. (Eur J Histochem 2007)
    114. Phenotypic heterogeneity in two unrelated Danon patients associated with the same LAMP-2 gene mutation. (PubMed id 16217705)9 Bertini E....Bruno C. (Neuropediatrics 2005)
    115. Influences of the lysosomal associated membrane proteins (Lamp-1, Lamp-2) and Mac-2 binding protein (Mac-2-BP) on the prognosis of pancreatic carcinoma. (PubMed id 11815981)9 KA1nzli B.M....BA1chler M.W. (Cancer 2002)
    116. Clinical outcome and phenotypic expression in LAMP2 cardiomyopathy. (PubMed id 19318653)9 Maron B.J....Seidman C.E. (JAMA 2009)
    117. New advances in the pathogenesis of ANCA-associated vasculitides. (PubMed id 19646356)9 Chen M. and Kallenberg C.G. (Clin. Exp. Rheumatol. 2009)
    118. Danon disease with typical early-onset cardiomyopathy in a male: focus on a novel LAMP-2 mutation. (PubMed id 18282207)9 Bui Y.K....Alejos J.C. (Pediatr Transplant 2008)
    119. LAMP-1 and LAMP-2, but not LAMP-3, are reliable markers for activation-induced secretion of human mast cells. (PubMed id 15351990)9 Gruetzkau A....Henz B.M. (Cytometry 2004)
    120. Identification of a novel LAMP2 mutation responsible for X-chromosomal dominant Danon disease. (PubMed id 14598234)9 HorvA!th J....Omran H. (Neuropediatrics 2003)
    121. Expression patterns of murine lysosome-associated membrane protein 2 (Lamp-2) transcripts during morphogenesis. (PubMed id 10448712)9 Lichter-Konecki U....Konecki D.S. ( research in biological diversity 1999)
    122. Cell surface expression of lysosome-associated membrane protein-2 (lamp2) and CD63 as markers of in vivo platelet activation in malignancy. (PubMed id 7672086)9 Kannan K....Holcombe R.F. (Eur. J. Haematol. 1995)
    123. [Morphological and clinical aspects of Danon disease]. (PubMed id 18393115)9 FidziaA8ska A....Kuch M. (Kardiol Pol 2008)
    124. Accumulation of autophagic vacuoles and cardiomyopathy in LAMP-2-deficient mice. (PubMed id 10972293)9 Tanaka Y....Saftig P. (Nature 2000)
    125. Quantitation of CD62, soluble CD62, and lysosome-associated membrane proteins 1 and 2 for evaluation of the quality of stored platelet concentrates. (PubMed id 7535481)9 Divers S.G....Holcombe R.F. (Transfusion 1995)
    126. Identification of lysosome-associated membrane protein-2 as an activation-dependent platelet surface glycoprotein. (PubMed id 1520873)9 Silverstein R.L. and Febbraio M. (Blood 1992)
    127. Granulocytic differentiation of HL-60 cells is associated with increase of poly-N-acetyllactosamine in Asn-linked oligosaccharides attached to human lysosomal membrane glycoproteins. (PubMed id 2243101)9 Lee N....Fukuda M. (J. Biol. Chem. 1990)
    128. Disease-causing mutations within the lysosomal integral membrane protein type 2 (LIMP-2) reveal the nature of binding to its ligand beta-glucocerebrosidase. (PubMed id 19933215)9 Blanz J....Schwake M. (Hum. Mol. Genet. 2010)
    129. Dissection of Rab7 localization on Mycobacterium tuberculosis phagosome. (PubMed id 19580780)9 Seto S....Koide Y. (Biochem. Biophys. Res. Commun. 2009)
    130. Impaired autophagosome-lysosome fusion in the pathogenesis of pancreatitis. (PubMed id 19458481)9 Fortunato F. and Kroemer G. (Autophagy 2009)
    131. Lysosomal integral membrane protein 2 is a novel component of the cardiac intercalated disc and vital for load-induced cardiac myocyte hypertrophy. (PubMed id 17485520)9 Schroen B....Pinto Y.M. (J. Exp. Med. 2007)
    132. LAMP-2 positive vacuolar myopathy with dilated cardiomyopathy. (PubMed id 17541230)9 Sugimoto S....Ohi T. (Intern. Med. 2007)
    133. [Danon disease: a case report and literature overview]. (PubMed id 17642461)9 CatoviA8 S. and OtaseviA8 P. (Srp Arh Celok Lek 2007)
    134. Intracellular transport of acid beta-glucosidase and lysosome-associated membrane proteins is affected in Gaucher's disease (G202R mutation). (PubMed id 10440752)9 Zimmer K.P....Naim H.Y. (J. Pathol. 1999)
    135. Characterization of glycoprotein II from bovine adrenal medullary chromaffin granules. Identification of components representing the secretory vesicle counterparts of the lysosomal-associated membrane glycoproteins (lamp-1 and lamp-2). (PubMed id 8496169)9 Hieber A.D. and Christie D.L. (J. Biol. Chem. 1993)
    136. Pathogenesis of small vessel vasculitis associated with autoantibodies to neutrophil cytoplasmic antigens: new insights from animal models. (PubMed id 19823088)9 Kain R....Rees A.J. (Curr Opin Rheumatol 2010)
    137. [Eludication of pathomechanism of and development of therapy for autophagic vacuolar myopathies]. (PubMed id 20120346)9 Nishino I. (Rinsho Shinkeigaku 2010)
    138. Shining a LAMP on pauci-immune focal segmental glomerulonephritis. (PubMed id 19387471)9 Salama A.D. and Pusey C.D. (Kidney Int. 2009)
    139. Ethambutol-induced toxicity is mediated by zinc and lysosomal membrane permeabilization in cultured retinal cells. (PubMed id 19063910)9 Chung H....Kim J.G. (Toxicol. Appl. Pharmacol. 2009)
    140. N-glycoprotein profiling of lung adenocarcinoma pleural effusions by shotgun proteomics. (PubMed id 18327805)9 Soltermann A....Moch H. (Cancer 2008)
    141. Sensitization to the lysosomal cell death pathway by oncogene-induced down-regulation of lysosome-associated membrane proteins 1 and 2. (PubMed id 18701486)9 Fehrenbacher N....JAoAottelAo M. (Cancer Res. 2008)
    142. Primary human keratinocytes externalize stratifin protein via exosomes. (PubMed id 18452139)9 Chavez-MuA+oz C....Ghahary A. (J. Cell. Biochem. 2008)
    143. Impaired phagosomal maturation in neutrophils leads to periodontitis in lysosomal-associated membrane protein-2 knockout mice. (PubMed id 18097049)9 Beertsen W....Saftig P. (J. Immunol. 2008)
    144. Increased expression of lysosomal acid phosphatase in CLN3-defective cells and mouse brain tissue. (PubMed id 17868323)9 Pohl S....Storch S. (J. Neurochem. 2007)
    145. Danon disease as a cause of autophagic vacuolar myopathy. (PubMed id 18377432)9 Yang Z. and Vatta M. (Congenit Heart Dis 2007)
    146. LAMPs and ABH histo-blood group antigens in granulation tissue. (PubMed id 17550377)9 Sarafian V.S. and Dikov D.I. (APMIS 2007)
    147. Cathepsin E deficiency induces a novel form of lysosomal storage disorder showing the accumulation of lysosomal membrane sialoglycoproteins and the elevation of lysosomal pH in macrophages. (PubMed id 17095504)9 Yanagawa M....Yamamoto K. (J. Biol. Chem. 2007)
    148. Cholesterol regulates prostasome release from secretory lysosomes in PC-3 human prostate cancer cells. (PubMed id 17601634)9 Llorente A....Sandvig K. (Eur. J. Cell Biol. 2007)
    149. A case of excessive autophagocytosis with multiorgan involvement and low clinical penetrance. (PubMed id 17821837)9 Sikora J....Elleder M. (Cesk Patol 2007)
    150. Autophagic vacuolar myopathy in twin girls. (PubMed id 16640643)9 Holton J.L....Al-Memar A. (Neuropathol. Appl. Neurobiol. 2006)
    151. Novel Lamp-2 gene mutation and successful treatment with heart transplantation in a large family with Danon disease. (PubMed id 16372318)9 Echaniz-Laguna A....Tranchant C. (amp 2006)
    152. Defective platelet beta-N-acetyl hexosaminidase content and release in chronic myeloproliferative disorders. (PubMed id 16308183)9 Emiliani C....Gresele P. (Platelets 2006)
    153. Morphological, clinical and genetic aspects in a family with a novel LAMP-2 gene mutation (Danon disease). (PubMed id 15792868)9 Lobrinus J.A....Jeannet P.Y. (Neuromuscul. Disord. 2005)
    154. Effector gammadelta T cells and tumor cells as immune targets of zoledronic acid in multiple myeloma. (PubMed id 15744346)9 Mariani S....Massaia M. (Leukemia 2005)
    155. Simultaneous reconstitution of multiple cytomegalovirus-specific CD8+ cell populations with divergent functionality in hematopoietic stem-cell transplant recipients. (PubMed id 15717275)9 Lacey S.F....Diamond D.J. (J. Infect. Dis. 2005)
    156. Gene mutations in apical hypertrophic cardiomyopathy. (PubMed id 16267253)9 Arad M....Seidman C.E. (Circulation 2005)
    157. Danon's disease as a cause of hypertrophic cardiomyopathy: a systematic survey. (PubMed id 15253947)9 Charron P....Komajda M. (Heart 2004)
    158. N-glycoproteins bearing beta1-6 branched oligosaccharides from the A375 human melanoma cell line analysed by tandem mass spectrometry. (PubMed id 15577318)9 Ochwat D....LityA8ska A. (Melanoma Res. 2004)
    159. Autophagic vacuolar myopathies. (PubMed id 12507414)9 Nishino I. (Curr Neurol Neurosci Rep 2003)
    160. Aspirin inhibits surface glycoprotein IIb/IIIa, P-selectin, CD63, and CD107a receptor expression on human platelets. (PubMed id 12695747)9 McKenzie M.E....Serebruany V.L. (amp 2003)
    161. A novel method of imaging lysosomes in living human mammary epithelial cells. (PubMed id 12926235)9 Glunde K....Bhujwalla Z.M. (Mol Imaging 2003)
    162. Danon's disease (X-linked vacuolar cardiomyopathy and myopathy): a case with a novel Lamp-2 gene mutation. (PubMed id 12398843)9 Lacoste-Collin L....Delisle M.B. (Neuromuscul. Disord. 2002)
    163. A role for the lysosomal membrane protein LGP85 in the biogenesis and maintenance of endosomal and lysosomal morphology. (PubMed id 12356916)9 Kuronita T....Tanaka Y. (J. Cell. Sci. 2002)
    164. The targeting of cystinosin to the lysosomal membrane requires a tyrosine-based signal and a novel sorting motif. (PubMed id 11150305)9 Cherqui S....Antignac C. (J. Biol. Chem. 2001)
    165. Lysosome proteins are redistributed during expression of a GTP-hydrolysis-defective rab5a. (PubMed id 11792815)9 Rosenfeld J.L....Knoll B.J. (J. Cell. Sci. 2001)
    166. Infantile autophagic vacuolar myopathy is distinct from Danon disease. (PubMed id 11552028)9 Yamamoto A....Nishino I. (Neurology 2001)
    167. Sterol-modulated glycolipid sorting occurs in niemann-pick C1 late endosomes. (PubMed id 11032830)9 Zhang M....Blanchette-Mackie E.J. (J. Biol. Chem. 2001)
    168. NPC1-containing compartment of human granulosa-lutein cells: a role in the intracellular trafficking of cholesterol supporting steroidogenesis. (PubMed id 10666334)9 Watari H....Strauss J.F. (Exp. Cell Res. 2000)
    169. Dermal microvascular endothelial cells express the 180-kDa macrophage mannose receptor in situ and in vitro. (PubMed id 11067894)9 GrAPger M....Petzelbauer P. (J. Immunol. 2000)
    170. Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor. (PubMed id 10024875)9 Dell'Angelica E.C....Bonifacino J.S. (Mol. Cell 1999)
    171. Identification and characterization of a major lysosomal membrane glycoprotein, LGP85/LIMP II in mouse liver. (PubMed id 9399579)9 Tabuchi N....Tsuji H. (J. Biochem. 1997)
    172. Characterization of the Mycobacterium tuberculosis phagosome and evidence that phagosomal maturation is inhibited. (PubMed id 7807006)9 Clemens D.L. and Horwitz M.A. (J. Exp. Med. 1995)
    173. Correlation of serum interleukin-8 and cell surface lysosome-associated membrane protein expression with clinical disease activity in systemic lupus erythematosus. (PubMed id 7920621)9 Holcombe R.F....Fukuda M. (Lupus 1994)
    174. Identification of human melanoma cellular and secreted ligands for galectin-3. (PubMed id 8024581)9 Inohara H. and Raz A. (Biochem. Biophys. Res. Commun. 1994)
    175. Cotransfection of genes encoding human tyrosinase and tyrosinase-related protein-1 prevents melanocyte death and enhances melanin pigmentation and gene expression of Lamp-1. (PubMed id 8020595)9 Luo D....Jimbow K. (Exp. Cell Res. 1994)
    176. Molecular control of melanogenesis in malignant melanoma: functional assessment of tyrosinase and lamp gene families by UV exposure and gene co-transfection, and cloning of a cDNA encoding calnexin, a possible melanogenesis &quot;chaperone&quot;. (PubMed id 7531726)9 Jimbow K....Chen H. (J. Dermatol. 1994)
    177. The giant organelles in beige and Chediak-Higashi fibroblasts are derived from late endosomes and mature lysosomes. (PubMed id 7902407)9 Burkhardt J.K....Argon Y. (J. Exp. Med. 1993)
    178. Intracellular diversion of glycoprotein GP160 of human immunodeficiency virus to lysosomes as a strategy of AIDS gene therapy. (PubMed id 8370478)9 Lin X....Tang J. (FASEB J. 1993)
    179. Chediak-Higashi lymphoblastoid cell lines: granule characteristics and expression of lysosome-associated membrane proteins. (PubMed id 1333377)9 Jones K.L....Holcombe R.F. (Clin. Immunol. Immunopathol. 1992)
    180. Cytotoxic T lymphocyte granules are secretory lysosomes, containing both perforin and granzymes. (PubMed id 2022921)9 Peters P.J....Geuze H.J. (J. Exp. Med. 1991)
    181. (PubMed id 17517953)9 
    182. Heat shock protein 70 inhibits apoptosis in cancer cells through simultaneous and independent mechanisms. (PubMed id 19208367)9 Dudeja V....Saluja A.K. (Gastroenterology 2009)

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    Entrez Gene: 3920 HGNC: 6501 AceView: LAMP2 Ensembl:ENSG00000005893 euGenes: HUgn3920
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