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LAMP2 Gene

protein-coding   GIFtS: 71
GCID: GC0XM119560

Lysosomal-Associated Membrane Protein 2

  See 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 vacuolar myopathy. 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:
NC_000023.11  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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., 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. CLIAs 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


    LAMP2 for domains           About GeneDecksing


    (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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, 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--
         
    LAMP2 for ontologies           About GeneDecksing


    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 

    LAMP2 for phenotypes           About GeneDecksing

    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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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for LAMP2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for LAMP2

    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

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 3): LAMP2 (NM_013995)
    Sino Biological Human cDNA Clone for LAMP2
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for LAMP2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LAMP2

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays 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

    LAMP2 for ontologies           About GeneDecksing


    (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

    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


    LAMP2 for pathways           About GeneDecksing

        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--

    LAMP2 for ontologies           About GeneDecksing



    (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), 16973206 (1) (see top 4)
    sucrose 10.5 3 1845800 (1), 1520873 (1), 19679094 (1)
    dextran 9.77 1 11067894 (1)
    cholesterol 0 2 10666334 (1), 11032830 (1)



    LAMP2 for compounds           About GeneDecksing



    (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, Primers from OriGene, and/or QIAGEN )
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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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    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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    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

    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

        Custom PCR Arrays for LAMP2
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    In Situ
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    (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

    LAMP2 for paralogs           About GeneDecksing



    (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
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    (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

  • Selected diseases for LAMP2 (see all 43):    
    About MalaCards
    danon disease    vacuolar myopathy    salla disease    hermansky-pudlak syndrome
    chediak-higashi syndrome    cystinosis    glycogen storage disease    protein s deficiency
    gaucher's disease    pilocytic astrocytoma    zellweger syndrome    lysosomal storage disease
    dilated cardiomyopathy    hypertrophic cardiomyopathy    hematopoietic stem cell transplantation    tremor
    myopathy    myeloproliferative disorder    hemangioma    vasculitis

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

    LAMP2 for disorders           About GeneDecksing

    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)
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    PubMed articles for LAMP2 gene, integrated from 10 sources (see all 206):
    (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)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 3920 HGNC: 6501 AceView: LAMP2 Ensembl:ENSG00000005893 euGenes: HUgn3920
    ECgene: LAMP2 Kegg: 3920 H-InvDB: LAMP2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for LAMP2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for LAMP2 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=LAMP2[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for LAMP2 gene:
    Search GeneIP for patents involving LAMP2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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