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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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(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


(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


(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 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 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: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for LAMP2 (LAMP2/CD107b)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Proteins for LAMP2
    OriGene Protein Over-expression Lysate for LAMP2
    OriGene MassSpec for LAMP2 
    OriGene Custom Protein Services for LAMP2
    GenScript Custom Purified and Recombinant Proteins Services for LAMP2
    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: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    R&D Systems Antibodies for LAMP2 (LAMP2/CD107b)
    OriGene Antibodies for LAMP2
    OriGene Custom Antibody Services for LAMP2
    GenScript Custom Superior Antibodies Services for LAMP2
    Novus Biologicals LAMP2 Antibodies
    Abcam antibodies for LAMP2
    Cloud-Clone Corp. Antibodies for LAMP2 
    ThermoFisher Antibody for LAMP2
    LSBio Antibodies in human, mouse, rat for LAMP2 

    Assay Products for LAMP2: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for LAMP2
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for LAMP2
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for LAMP2 
    Cloud-Clone Corp. CLIAs for LAMP2


    (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


    (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
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat LAMP2
    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 plasmidLAMP2 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for LAMP2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat LAMP2

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for LAMP2
    Sirion Biotech Customized adenovirus for overexpression of LAMP2

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for LAMP2 (see all 20)
    OriGene ORF clones in mouse, rat for LAMP2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    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
    Sirion Biotech Customized lentivirus for stable overexpression of LAMP2 
                         Customized lentivirus expression plasmids for stable overexpression of LAMP2 

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for LAMP2
    Search LifeMap BioReagents cell lines for LAMP2
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LAMP2


    (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



    (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

    (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
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat LAMP2
    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 plasmidLAMP2 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for LAMP2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat LAMP2
    Clone
    Products:
         
    OriGene clones in human, mouse for LAMP2 (see all 20)
    OriGene ORF clones in mouse, rat for LAMP2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): LAMP2 (NM_013995)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for LAMP2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LAMP2
    Sirion Biotech Customized lentivirus for stable overexpression of LAMP2 
                         Customized lentivirus expression plasmids for stable overexpression of LAMP2 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for LAMP2
    OriGene qSTAR qPCR primer pairs in human, mouse for LAMP2
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat LAMP2
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat LAMP2
      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 

    809 AceView cDNA sequences (see top 24):

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

    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)      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

        SABiosciences Custom PCR Arrays for LAMP2
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat 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 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 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, 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
    SeqTarget long-range PCR primers for resequencing LAMP2
    DNA2.0 Custom Variant and Variant Library Synthesis for LAMP2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, 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

    (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)

    (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, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, 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, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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