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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

LAMP2 Gene

protein-coding   GIFtS: 70
GCID: GC0XM119560

Lysosomal-Associated Membrane Protein 2
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Aliases
for LAMP2 gene

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

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


Summaries
for LAMP2 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
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, and among its related super-pathways are Response to elevated platelet cytosolic Ca2+ and Hemostasis. 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


Genomic Views
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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NT_011786.16  NC_018934.2  
Regulatory elements:
   SABiosciences 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 plasmid: LAMP2 promoter sequence
   Search SABiosciences Chromatin IP Primers for LAMP2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for LAMP2 gene

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section
UniProtKB/Swiss-Prot: LAMP2_HUMAN, P13473 (See protein sequence)
Recommended Name: Lysosome-associated membrane glycoprotein 2 precursor  
Size: 410 amino acids; 44961 Da
Subcellular location: 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
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:

  • UniProtKB: O- and N-glycosylated; some of the 16 N-linked glycans are polylactosaminoglycans
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P13473

    • LAMP2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    LAMP2 Protein Expression
    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
    Human Recombinant Protein Products for LAMP2: 
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    R&D Systems Recombinant & Natural Proteins for LAMP2 (LAMP2/CD107b)
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    Novus Biologicals LAMP2 Proteins
    Novus Biologicals LAMP2 Lysates
    Sino Biological Recombinant Protein for LAMP2
    Sino Biological Cell Lysate for LAMP2 
    ProSpec Recombinant Protein for LAMP2
    Cloud-Clone Corp. Proteins for LAMP2 

    Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9):    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



    LAMP2 Antibody Products: 
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    Abcam antibodies for LAMP2
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    ThermoFisher Antibody for LAMP2
    LSBio Antibodies in human, mouse, rat for LAMP2 

    Assay Products for LAMP2: 
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    Cloud-Clone Corp. ELISAs for LAMP2 
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    Protein Domains /
    Families
    for LAMP2 gene

    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    		 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


    Function
    for LAMP2 gene

    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section
    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

    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  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 - Custom generated mouse model solutions for LAMP2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for LAMP2

       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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    8/56 QIAGEN miScript miRNA 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 plasmid: LAMP2 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    Cell Line
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    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LAMP2


    Pathways & Interactions
    for LAMP2 gene

    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for LAMP2 About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Platelet degranulation
    		Platelet degranulation 0.94
    		Response to elevated platelet cytosolic Ca2+0.94
    2Platelet activation, signaling and aggregation
    		Platelet activation, signaling and aggregation0.43
    		Hemostasis0.43
    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


    4        Reactome Pathways for LAMP2
        Hemostasis
    Platelet degranulation
    Platelet activation, signaling and aggregation
    Response to elevated platelet cytosolic Ca2+


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


    LAMP2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for LAMP2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 16)

    5/29 Interacting proteins for LAMP2 (P134732, 3 ENSP000004084114) via UniProtKB, MINT, STRING, and/or I2D (see all 29)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ADRB2P075502, 3, ENSP000003053724MINT-7291650 I2D: score=1 STRING: ENSP00000305372
    SOD1P004412, 3, ENSP000002701424MINT-8143734 I2D: score=1 STRING: ENSP00000270142
    ENSG00000206379O759553I2D: score=1 
    ENSG00000206480O759553I2D: score=1 
    ENSG00000230143O759553I2D: score=1 
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002576platelet degranulation TAS--
    GO:0007596blood coagulation TAS--
    GO:0030168platelet activation TAS--

    LAMP2 for ontologies           About GeneDecksing



    Drugs & Compounds
    for LAMP2 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    LAMP2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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)

    Search CenterWatch for drugs/clinical trials and news about LAMP2

    Transcripts
    for LAMP2 gene

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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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    8/56 QIAGEN miScript miRNA 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 plasmid: LAMP2 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for LAMP2
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    Clone
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    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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      QIAGEN 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 

    24/50 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 

    24/809 AceView cDNA sequences (see all 809):

    AA771741 Z39048 BX280335 AI025835 AI521971 BQ006028 BG109715 AI753952 
    BM857490 AA348116 T40586 BM784356 AA350363 AI459107 AW513834 AA148755 
    AI361127 Z45838 AI767340 AA448882 AV709000 Z41475 AW027976 BQ721319 

    GeneLoc Exon Structure

    5/13 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

    Expression
    for LAMP2 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    LAMP2 expression in normal human tissues (normalized intensities)      LAMP2 embryonic expression: see
    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 
     5/31 selected tissues (see all 31) fully expand
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Uterus
             uterus, post-menopause ; glandular cells   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 3 entries
             rectum ; glandular cells   

    See LAMP2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for LAMP2

    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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    Orthologs
    for LAMP2 gene

    (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)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for LAMP2 gene from 5/12 species (see all 12)    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 74.83(n)1
    62.62(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 62.81(n)
    55.03(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
    		 30(a)
    		 1 ↔ 1
    		 14(34448790-34456576)
    fruit fly
    (Drosophila melanogaster)    		 Insecta Lamp16
    		 Lamp1
    		 20(a)
    		 1 → many
    		 2L(21573389-21577103)


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

    Paralogs
    for LAMP2 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    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



    Genomic Variants
    for LAMP2 gene

    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/626 SNPs in LAMP2 are shown (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
    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for LAMP2

    Disorders / Diseases
    for LAMP2 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    		 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

    • 20/37 diseases for LAMP2 (see all 37):    About MalaCards
    danon disease    vacuolar myopathy    salla disease    hermansky-pudlak syndrome
    glycogen storage disease    cystinosis    chediak-higashi syndrome    protein s deficiency
    pilocytic astrocytoma    zellweger syndrome    gaucher's disease    lysosomal storage disease
    hypertrophic cardiomyopathy    dilated cardiomyopathy    myopathy    tremor
    hematopoietic stem cell transplantation    hemangioma    vasculitis    scleroderma

    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


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/16 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

    Publications
    for LAMP2 gene

    (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

    PubMed articles for LAMP2 gene, integrated from 9 sources (see all 203):
    (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. (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. (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. (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. (2005)
    5. Shared genetic causes of cardiac hypertrophy in children and adults. (PubMed id 18403758)1, 4, 9 Morita H.... Seidman C.E. (2008)
    6. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    7. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (2005)
    8. Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PubMed id 16335952)1, 2 Liu T.... Smith R.D. (2005)
    9. Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PubMed id 15340161)1, 2 Zhang Z. and Henzel W.J. (2004)
    10. 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. (2004)

    External Searches for LAMP2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing LAMP2 gene

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

    Other Databases showing LAMP2 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing LAMP2 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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/sites/GeneTests/lab/gene/LAMP2

    Intellectual Property
    for LAMP2 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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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    About This Section

     
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