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

LAMP2 Gene

protein-coding   GIFtS: 67
GCID: GC0XM119560

lysosomal-associated membrane protein 2

 Explore 44 diseases affiliated with
LAMP2 via our new
 Human Malady Compendium 
Biological research products
for LAMP2
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Lysosomal-Associated Membrane Protein 21 2     LAMPB2 5
CD107b1 2     LGP1102
Lysosome-Associated Membrane Protein 22 3     Lysosome-Associated Membrane Glycoprotein 22
LAMP-22 3     CD107b Antigen3
CD107 Antigen-Like Family Member B2 3     

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for LAMP2:
The protein encoded by this gene is a member of a family of membrane glycoproteins. This glycoprotein provides
selectins with carbohydrate ligands. It may play a role in tumor cell metastasis. It may also function in the
protection, maintenance, and adhesion of the lysosome. Alternative splicing of this gene results in multiple
transcript variants encoding distinct proteins. (provided by RefSeq, Jul 2008)

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


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.1  NT_011786.16  
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 plasmidLAMP2 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

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • O- and N-glycosylated; some of the 16 N-linked glycans are polylactosaminoglycans1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P13473

  • LAMP2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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
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    Uscn Proteins for LAMP2

    Gene Ontology (GO): 5/10 cellular component terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005764lysosome IDA19535332
    GO:0005765lysosomal membrane IDA--
    GO:0005768endosome ----
    GO:0005770late endosome IDA15229288
    GO:0005886plasma membrane TAS--


    LAMP2 for ontologies           About GeneDecksing



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

    LAMP2 for domains           About GeneDecksing

    2 InterPro domains/families:
     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 family: IPB002000 Lysosome-associated membrane glycoprotein (Lamp)/CD68

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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         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

         Genatlas biochemistry entry for LAMP2:
    lysosomal associated membrane protein 2

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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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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LAMP2

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

    Animal Models:
         Mouse knock-out Lamp2tm1Psa for LAMP2
         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


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/6 super-pathways (see all 6About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Platelet degranulation
    Platelet degranulation 1.00
    Response to elevated platelet cytosolic Ca2+0.94
    2Platelet activation, signaling and aggregation
    Platelet activation, signaling and aggregation1.00
    Hemostasis0.43
    3Senescence and Autophagy
    Senescence and Autophagy1.00
    4Tuberculosis
    Tuberculosis1.00
    5Phagosome
    Phagosome1.00

    Pathway sources
    See GeneCards unified pathways
    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)

    5/25 Interacting proteins for LAMP2 (P134732, 3 ENSP000004084114) via UniProtKB, MINT, STRING, and/or I2D (see all 25)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ADRB2P075502, 3, ENSP000003053724MINT-7291650 I2D: score=1 STRING: ENSP00000305372
    SOD1P004412, 3, ENSP000002701424MINT-8143734 I2D: score=1 STRING: ENSP00000270142
    MDM2Q009873, ENSP000004172814I2D: score=1 STRING: ENSP00000417281
    AP4M1O001893, ENSP000003526034I2D: score=1 STRING: ENSP00000352603
    CTSAP106193, ENSP000003615624I2D: score=1 STRING: ENSP00000361562
    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



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 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 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, 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

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    Additional cDNA 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 

    24/51 DOTS entries (see all 51):

    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 

    809 AceView cDNA sequences (see top 24):

    AI954107 AI911152 H48596 AA917919 AW027976 AI092262 BM667236 BM966891 
    AA358755 AL602712 BM972440 BQ721319 CD370599 AA707470 BG169056 BQ017830 
    BQ576115 CR606114 BF933211 T40586 AA448882 AY561849 AA788977 BX482027 
    BX399393 AL549180 N24741 BE222200 CA314017 AI422766 BG109715 CD614473 
    CA772061 BE819564 AI521971 CB141496 BX399392 CB266012 AA227262 CD365703 
    AI356009 AI459107 AV709000 CA419391 AA598735 BX280335 CR616621 AI697388 
    AI868727 AA127074 CA443712 AA348116 BC040653 Z39048 AI826194 AW072676 
    AA359609 AW071679 AA909130 BM676071 BU686522 AI282785 AA593892 AW874643 
    AL708507 BU742669 F04863 BM975466 CA432942 BE327660 AW578349 AA280873 
    CN479036 BM967103 AW058394 CB157104 CD678610 BU674076 AA992994 T69951 
    BU789521 AA148755 BQ006028 AA938644 AI767340 BM857490 AW292432 CB857888 
    BU181960 CB159917 AI221464 AI753952 AI372901 AW513834 AI277990 BU633811 
    AI025835 CR607757 AW189066 AI361127 BM784356 Z41475 CB121644 CB051868 
    AW237255 BQ613776 AA350363 AI379418 Z45838 AI682862 AI094861 AA771741 
    BX471492 BU156133 AA481559 BQ010045 BE894736 BE463641 BM981955 AA825745 
    T83661 AA342406 BU689910 N42209 BI711868 CB118186 AI810331 AA662780 
    AW576464 BU183786 CD654035 CB958146 N62847 BM544064 BI552296 AI424472 
    BG249656 BX414543 AI052288 BQ417289 BU929556 BM728751 CD104697 AW606991 
    D29162 BM718041 BV179119 AA314150 CA435621 BU955321 AI301997 AU122484 
    CB956626 BE501916 CA942791 CA777013 AW837054 BV199703 AW890336 CD694708 
    BG436364 BF674583 CF128705 BF670271 AU139006 BI492346 AI917044 BG035632 
    AW503456 AU136875 BQ018918 AW016087 AW518997 CA445607 D63026 AI269232 
    AU156678 AI623255 BI910670 H77564 N94781 AI685331 BE348530 BQ006455 
    BM055241 CD298869 BG430862 AA125797 AA360621 AI624013 BM786781 AU136365 
    AA825760 AV694063 BE880985 X77196 AI150000 AA481625 BE326751 CB111949 
    CD657452 BP336490 AA306456 CD643308 AI700945 BE672563 AI031937 CF272351 
    AI269182 AW951386 AV708021 N31640 AI368840 Z33445 BM893706 BQ776350 
    AU157853 BU568304 BM989205 AI097661 BX118727 BM993158 AW070610 BM761145 
    CD655142 BI548549 AA706741 AW661994 BG385638 BV178531 AL598543 Z42930 
    BE394155 BF666322 BF984425 AA774464 BM450148 BU177907 AU131820 AI087121 
    C00545 AA209339 BI838068 W56237 CA777305 AI969208 BU789790 BF939655 
    BQ003064 BM747152 BQ447081 BX435019 NM_002294 BX441182 AI094571 CB051867 
    CA448219 AI799565 AW664395 AU138609 AI376766 BM712728 AI168514 BX648255 
    AA418142 T27128 AU135856 BE241968 BF899767 AU118588 BI457964 BM829285 
    CB217113 AA447948 T29503 BG702492 AW130220 BM845988 BQ212569 CB052410 
    BP871688 CB854328 BE218712 AW016891 BP872288 BI669980 T27031 BQ425930 
    BF373612 BF793957 AI680787 BE000919 AA609629 BF438547 H63796 AW470703 
    AW292574 BI668993 AA668893 BI837756 NM_013995 AW275139 BI600216 BV207928 
    BE270547 AI580088 N57095 BU160345 BE968681 AI223315 AA052944 AI692532 
    BI551439 CB163640 BG546126 AA232472 BX494566 AA361062 D62941 CF618745 
    BG699100 BF344345 BC002965 CD652478 BQ067732 U36336 AL521377 CD244950 
    AL521378 AW576569 BI551966 AA280952 BM817970 CB158859 BM455036 AA304644 
    AI923808 AW675331 BU430584 AA384987 AI004872 BE046130 BI549834 CB143470 
    BG534388 AI609407 AI826694 AW513594 CB140827 BE327962 BX379302 AV731086 
    AA569528 BE858845 AU117130 BM479043 BI092673 F01897 AI092292 AI492294 
    AI479585 AA759108 BG428181 BX113463 BE857608 N51098 AV730441 AI962107 
    BG771029 AA481012 AI423220 BF573487 BG572314 BM966971 BM557613 AA904328 
    AI074125 AK126232 CD653927 BI599743 S79873 BP873572 BE045656 AW069281 
    CF541058 BQ017100 AA490196 F08654 BI669660 AW873089 CB989444 AU137186 
    BI670241 BQ014053 BM146801 AW206034 AI811159 CD698195 AW837157 BF798819 
    BQ308790 BG507060 AW021738 AW780225 BX397089 BE819615 AI128270 BE880692 
    BI547744 AW956516 AA657830 AA826406 AW838283 BF357934 BM273000 T83825 
    BX378131 BI549147 BI603638 AW611496 AI761959 AA227839 BX471491 BI670055 
    AW996802 CD614474 AW748402 AA227840 BF762673 BG715800 AW302189 CD512269 
    BG163889 BF337637 BE767186 CB851858 BF087207 BG699244 BF983921 BQ025604 
    AI057297 BE857474 T26401 BG702772 AL598258 D79776 CD674780 BI548977 
    AA977167 AI701681 BM479065 BG149537 R98092 AU153491 BE819450 N28966 
    H77563 AA148995 BM857717 BF031958 BG719002 CD697263 AW937832 R77797 
    AI432614 AA515021 BQ287825 AI951916 H83687 AW505266 CD299829 BX484340 
    BE897635 J04183 BF126534 BU430032 BM805428 BQ631029 BG705996 AW371637 
    R25050 AI356787 BG506506 W32077 BQ778436 AW082690 BG707913 W93718 
    N63482 BF984057 BM904928 AI023453 BG714522 BG572959 BF957400 W86734 
    AA576273 BG427658 CF136348 BG675338 AV722439 AV652163 R40327 BE881570 
    BX379301 BU428452 BI601620 BG771520 BF222402 BG699327 CA772351 AI619539 
    BE301240 BG400273 H49813 AA568885 BV167885 AA456539 AA085744 BE677198 
    CA407490 BE407230 BE669880 N71940 Z36265 BF525434 N55022 BX500144 
    R62619 AA417965 AA306272 AA228427 BG821903 BQ309039 BF126196 N63463 
    BI550952 T27129 AV698379 AA948364 BP335272 AA455167 AA357492 N94756 
    BI549272 AI678281 BG165198 AI972316 AW955301 AW243853 CD683576 N53504 
    BF086427 H48790 BG697113 BF330260 H23858 BI198212 R63057 T63671 
    AW968679 AA576265 BU157079 BI551372 AW602947 C04197 R68253 H29263 
    BX642714 BE561678 BF572689 CD684217 AI674804 AA206048 BF691610 AV761223 
    AI366380 CD299153 AI275637 CD692514 BE891758 BF916974 H29346 N94804 
    BF213237 AV662051 AV688071 CF137544 BG623826 N77754 N80157 AI423449 
    H83707 AW068907 BI763906 AV689911 CD104948 BP336447 BE177530 N77211 
    T39434 AI241534 T69903 BE897971 AA577284 AV692211 CD698262 H09881 
    BF214505 BI907407 BF339611 AA244335 AI095427 BQ308038 BI711579 C21402 
    AV723706 AA883527 AW340744 N45601 AI366364 BF761907 AA309855 CD705657 
    AA303924 BX436451 BE819581 BU198192 BF673659 AA053501 BE925714 N58035 
    AW797236 BF357915 AI973078 AA854447 AA854549 AV709552 BI596979 AW276273 
    AA207254 T32396 R78159 BE879380 AA658393 BF819195 AA148616 R65868 
    BF924944 AU144045 AW304751 BE540412 AW750318 AA814831 BG164302 AV754219 
    R33992 BF826927 BF761764 CD366465 AI468173 AL573484 CK824132 W19660 
    R67188 BF247226 AA609975 CB050882 CB989197 AI582014 R65700 AV732551 
    BG399502 T10914 AW955413 BE078205 BG951841 AW089111 AI366553 AA706295 
    AW242869 AU145109 CA943033 BE769379 BF701680 AA404511 BX414544 AI800108 
    H09796 BQ301664 AI797624 N99676 BM698076 BF089672 R45389 BI669033 
    AV753771 BF131759 BE185720 BF978499 BF130701 R60000 AI146872 H24010 
    T70913 R98093 W93719 AI557396 H83328 BE894975 BF171533 BE769391 
    BE931698 H22728 BE708018 BE245194 AA043891 BF956341 AA337053 BE833443 
    AU099706 BQ222525 CD697461 AV749031 W31585 BU160565 BF248057 AA948353 
    AA244384 BF330258 BG003439 AI038047 BE000942 BF030725 BG571370 N72160 
    AW388905 BF743910 R14336 AI476497 W03685 BF893157 R26568 BF090131 
    AI285170 CF144791 BG168312 BE620089 BE934775 BE831550 BG771468 BG035554 
    BI033816 AW997114 R97855 D58313 BE005683 BG698385 H49558 R97806 
    R31719 BE710300 H63755 AW518570 W21947 BE172543 BU198161 BE926076 
    BG702350 BE242698 BF589566 AA922026 BF030009 R23654 BQ360548 AW806190 
    BU166099 R13247 R40662 BF094044 BE813928 R31677 BF089416 BQ888267 
    BF207646 AV662088 R68547 BE245222 BF826931 AA361826 BE830680 R62670 
    AW602919 AA092234 BF743914 R00849 AW578968 BE694908 AV728401 AW466376 
    BE967372 AA148996 AI266417 BG167002 AW580056 BG290877 BG956711 BE768545 
    N63506 

    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

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GCCATTATAA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    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

        SABiosciences Custom PCR Arrays for LAMP2
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    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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for LAMP2 gene from 4/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    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
    29(a)
    1 ↔ 1
    14(34448790-34456576)
    fruit fly
    (Drosophila melanogaster)
    Insecta Lamp16
    Lamp1
    18(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)
    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



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/526 NCBI SNPs in LAMP2 are shown (see all 526    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1048948591,2
    Cpathogenic119575717(-) GCTACC/TGGGAT 6 R W mis10--------
    rs1048948581,2
    Cpathogenic119576454(-) GCTCCA/GGTAAG 6 I V mis10--------
    rs1048948571,2
    Cpathogenic119582861(-) TTGTAC/TAAGCT 6 Q * stg10--------
    rs128344701,2
    C,F,A,--119559562(+) AAATTG/AAGCAT 2 -- ds50015Minor allele frequency- A:0.25NA WA CSA 8
    rs128403861,2
    C,F,A,--119559588(+) GGAATG/TTAAAG 2 -- ds50013Minor allele frequency- T:0.40NA CSA 5
    rs1508259061,2
    C,--119559712(+) ATACGC/TGGAAA 2 -- ds50010--------
    rs1904559521,2
    --119559929(+) ATTCAA/CGAAAC 2 -- ds50010--------
    rs1132850131,2
    C,--119560130(+) ATACAT/ACCAAA 2 -- ut311Minor allele frequency- A:0.50WA 2
    rs27481,2
    C,F,O,A,H,--119560140(+) AACTTT/CAGTTA 2 -- ut3117Minor allele frequency- C:0.29MN NS EA NA 2353
    rs1851565711,2
    --119560172(+) AAAGCA/TGCTTA 2 -- ut310--------

    HapMap Linkage Disequilibrium report for LAMP2 (119560003 - 119603220 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for LAMP2
         1 CNV: 4168
    Human Gene Mutation Database (HGMD): LAMP2

    Locus Specific Mutation Databases (LSDB): LAMP2

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat 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.)
    About This Section

    LAMP2 for disorders           About GeneDecksing

    OMIM gene information: 309060   
    OMIM disorders: 300257  
    UniProtKB/Swiss-Prot: LAMP2_HUMAN, P13473
  • Defects in LAMP2 are the cause of Danon disease (DAND) [MIM:300257]; also known as glycogen storage disease
  • type 2B (GSD2B). DAND is a lysosomal glycogen storage disease characterized by the clinical triad of cardiomyopathy,
    vacuolar myopathy and mental retardation. It is often associated with an accumulation of glycogen in muscle and
    lysosomes

    20/44 diseases for LAMP2 (see all 44):    About MalaCards
    hermansky-pudlak syndrome    glycogen storage disease iib    glycogen storage disease    chediak-higashi syndrome
    danon disease    vacuolar myopathy    lysosomal storage disease    salla disease
    dilated cardiomyopathy    pilocytic astrocytoma    systemic lupus erythematosus    intellectual disability
    lupus erythematosus    hypertrophic cardiomyopathy    zellweger syndrome    cardiomyopathy
    cystinosis    protein s deficiency    myeloproliferative disorder    gaucher's disease

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

    10/16 Novoseek 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)

    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

    PubMed articles for LAMP2 gene, integrated from 9 sources (see all 192):
    (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. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (2005)
    6. Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PubMed id 16335952)1, 2 Liu T.... Smith R.D. (2005)
    7. Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PubMed id 15340161)1, 2 Zhang Z. and Henzel W.J. (2004)
    8. 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)
    9. 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. (2003)
    10. 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. (1995)

    (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)

    (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

    (According to HUGE)
    About This Section
      --

    (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

    (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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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    About This Section

     
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     Abcam protocols and scientific support
     Recombinant Protein for LAMP2




     LAMP2 Proteins, Antibodies, CLIAs, and ELISAs
     Search LifeMap BioReagents cell lines for LAMP2
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LAMP2
     SwitchGear 3'UTR luciferase reporter plasmids for LAMP2
     SwitchGear Promoter luciferase reporter plasmids for LAMP2
     ThermoFisher Antibody for LAMP2
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LAMP2
           
    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
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