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LUM Gene

protein-coding   GIFtS: 68
GCID: GC12M091430

Lumican


(Previous symbol: LDC)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
lumican1 2
LDC1 2 3 5
Lumican Proteoglycan1 2
Keratan Sulfate Proteoglycan Lumican2 3
SLRR2D2 3
KSPG Lumican2 3

External Ids:    HGNC: 67241   Entrez Gene: 40602   Ensembl: ENSG000001393297   OMIM: 6006165   UniProtKB: P518843   

Export aliases for LUM gene to outside databases

Previous GC identifers: GC12M090819 GC12M091944 GC12M089999 GC12M088565


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for LUM Gene:
This gene encodes a member of the small leucine-rich proteoglycan (SLRP) family that includes decorin, biglycan,
fibromodulin, keratocan, epiphycan, and osteoglycin. In these bifunctional molecules, the protein moiety binds
collagen fibrils and the highly charged hydrophilic glycosaminoglycans regulate interfibrillar spacings. Lumican
is the major keratan sulfate proteoglycan of the cornea but is also distributed in interstitial collagenous
matrices throughout the body. Lumican may regulate collagen fibril organization and circumferential growth,
corneal transparency, and epithelial cell migration and tissue repair. (provided by RefSeq, Jul 2008)

GeneCards Summary for LUM Gene:
LUM (lumican) is a protein-coding gene. Diseases associated with LUM include macular corneal dystrophy, and posterior amorphous corneal dystrophy. GO annotations related to this gene include extracellular matrix structural constituent and collagen binding. An important paralog of this gene is PODN.

Gene Wiki entry for LUM Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000012.12  NC_018923.2  NT_029419.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the LUM gene promoter:
         NF-YB   PPAR-gamma1   CBF-B   AML1a   NF-YA   Meis-1a   PPAR-gamma2   NF-Y   Meis-1b   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidLUM promoter sequence
   Search Chromatin IP Primers for LUM

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


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

Entrez Gene cytogenetic band: 12q21.3-q22   Ensembl cytogenetic band:  12q21.33   HGNC cytogenetic band: 12q21.3-q22

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

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M091430:  view genomic region     (about GC identifiers)

Start:
91,496,406 bp from pter      End:
91,505,608 bp from pter
Size:
9,203 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: LUM_HUMAN, P51884 (See protein sequence)
Recommended Name: Lumican precursor  
Size: 338 amino acids; 38429 Da
Subunit: Binds to laminin (By similarity)
Developmental stage: Present in the extracellular matrix of human articular cartilage at all ages, although its
abundance is far greater in the adult. In the adult cartilage lumican exists predominantly in a glycoprotein form
lacking keratan sulfate, whereas the juvenile form of the molecule is a proteoglycan
Secondary accessions: B2R6R5 Q96QM7

Explore the universe of human proteins at neXtProt for LUM: NX_P51884

Explore proteomics data for LUM at MOPED

Post-translational modifications: 

  • Sulfated on tyrosine residue(s)1
  • Glycosylation2 at Asn88, Asn127, Asn160, Asn252
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins: NP_002336.1  
    ENSEMBL proteins: 
     ENSP00000266718  
    Reactome Protein details: P51884

    LUM Human Recombinant Protein Products:

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    LUM Antibody Products:

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    LUM Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for LUM
    Cloud-Clone Corp. CLIAs for LUM


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    SLRR: Proteoglycans / Extracellular Matrix : Small leucine-rich repeats

    4 InterPro protein domains:
     IPR001611 Leu-rich_rpt
     IPR027219 Lumican
     IPR003591 Leu-rich_rpt_typical-subtyp
     IPR000372 LRR-contain_N

    Graphical View of Domain Structure for InterPro Entry P51884

    ProtoNet protein and cluster: P51884

    2 Blocks protein domains:
    IPB000372 Cysteine-rich flanking region
    IPB001611 Leucine-rich repeat signature


    UniProtKB/Swiss-Prot: LUM_HUMAN, P51884
    Similarity: Belongs to the small leucine-rich proteoglycan (SLRP) family. SLRP class II subfamily
    Similarity: Contains 11 LRR (leucine-rich) repeats
    Similarity: Contains 1 LRRNT domain


    LUM for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:
         Genatlas biochemistry entry for LUM:
    lumican,keratan sulfate proteoglycan one of the three major constituents of the corneal stroma,playing a role in
    the regulation of collagen assembly into fibrils in various connective tissues,small-leucine-rich proteoglycans
    family

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005201extracellular matrix structural constituent NAS10892350
    GO:0005515protein binding ----
    GO:0005518collagen binding IDA10892350
         
    LUM for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for LUM:
     Decreased viability with carbo 

         14 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Lum):
     behavior/neurological  cardiovascular system  cellular  digestive/alimentary  growth/size/body 
     hematopoietic system  homeostasis/metabolism  immune system  integument  limbs/digits/tail 
     muscle  reproductive system  skeleton  vision/eye 

    LUM for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for LUM: Lumtm1Chak Lumtm1Wwk

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for LUM
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for LUM

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

    miRNA
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    3 qRT-PCR Assays for microRNAs that regulate LUM:
    hsa-miR-33a* hsa-miR-4307 hsa-miR-494
    SwitchGear 3'UTR luciferase reporter plasmidLUM 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for LUM
    Predesigned siRNA for gene silencing in human, mouse, rat LUM

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for LUM

    Clone
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    OriGene clones in human, mouse for LUM (see all 7)
    OriGene ORF clones in mouse, rat for LUM
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: LUM (NM_002345)
    Sino Biological Human cDNA Clone for LUM
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for LUM
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LUM

    Cell Line
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    ESI BIO PureStem Progenitor for LUM: 
    PureStem Z11, Meso Progenitor
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LUM


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    LUM_HUMAN, P51884: Secreted, extracellular space, extracellular matrix (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    golgi apparatus4
    lysosome4
    vacuole4
    cytoskeleton1
    endoplasmic reticulum1
    plasma membrane1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005578proteinaceous extracellular matrix TAS7665616
    GO:0005583fibrillar collagen IDA10734230
    GO:0005615extracellular space IDA--
    GO:0005796Golgi lumen TAS--

    LUM for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for LUM About   (see all 9)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1MPS VI - Maroteaux-Lamy syndrome
    MPS VI - Maroteaux-Lamy syndrome0.45
    MPS IIIB - Sanfilippo syndrome B0.45
    MPS IIIC - Sanfilippo syndrome C0.45
    MPS II - Hunter syndrome0.45
    MPS IV - Morquio syndrome A0.45
    Glycosaminoglycan metabolism0.45
    Mucopolysaccharidoses0.45
    MPS IV - Morquio syndrome B0.45
    2Keratan sulfate/keratin metabolism
    Keratan sulfate/keratin metabolism0.85
    Keratan sulfate degradation0.00
    Keratan sulfate biosynthesis0.85
    3Metabolism
    Metabolism0.38
    4Degradation of the extracellular matrix
    Extracellular matrix organization0.34
    5Cell adhesion ECM remodeling
    Metalloproteases in connective tissue degradation0.31

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    4 Reactome Pathways for LUM
        ECM proteoglycans
    Integrin cell surface interactions
    Keratan sulfate biosynthesis
    Keratan sulfate degradation


    1 Kegg Pathway  (Kegg details for LUM):
        Proteoglycans in cancer


    LUM for pathways           About GeneDecksing

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

        GeneGlobe Interaction Network for LUM

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

    Selected Interacting proteins for LUM (P518842, 3 ENSP000002667184) via UniProtKB, MINT, STRING, and/or I2D (see all 31)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MMP14P502813, ENSP000003082084I2D: score=2 STRING: ENSP00000308208
    TRA2BP629953, ENSP000004169594I2D: score=2 STRING: ENSP00000416959
    COL1A2P081233, ENSP000002972684I2D: score=2 STRING: ENSP00000297268
    CXCL2P198753I2D: score=1 
    WNK1Q9H4A33I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process TAS--
    GO:0007601visual perception TAS10802664
    GO:0014070response to organic cyclic compound IEA--
    GO:0018146keratan sulfate biosynthetic process TAS--
    GO:0030198extracellular matrix organization TAS--

    LUM for ontologies           About GeneDecksing



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

    Browse Tocris compounds for LUM



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for LUM gene: 
    NM_002345.3  

    Unigene Cluster for LUM:

    Lumican
    Hs.406475  [show with all ESTs]
    Unigene Representative Sequence: BG114678
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000266718(uc001tbm.3) ENST00000548071 ENST00000546642
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat LUM using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate LUM:
    hsa-miR-33a* hsa-miR-4307 hsa-miR-494
    SwitchGear 3'UTR luciferase reporter plasmidLUM 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for LUM
    Predesigned siRNA for gene silencing in human, mouse, rat LUM
    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: LUM (NM_002345)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for LUM
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LUM
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat LUM
      QuantiTect SYBR Green Assays in human, mouse, rat LUM
      QuantiFast Probe-based Assays in human, mouse, rat LUM

    Additional mRNA sequence: 

    AK223177.1 AK312682.1 BC007038.1 BC035997.1 BT006707.1 U18728.1 U21128.1 

    Selected DOTS entries (see all 32):

    DT.92466681  DT.100889137  DT.100889151  DT.95165813  DT.100889127  DT.97795167  DT.95165763  DT.100889116 
    DT.100889145  DT.121108384  DT.102843961  DT.95165745  DT.100889112  DT.101970518  DT.100889104  DT.100889155 
    DT.121108482  DT.121108426  DT.95165711  DT.100889119  DT.95165705  DT.100889144  DT.100889150  DT.121108402 

    Selected AceView cDNA sequences (see all 1083):

    AI249973 AL514022 AU120612 CR614927 AI598274 AL513768 AW007632 BP374151 
    AW192279 BX356145 BQ007676 BP341141 BP371826 BX118443 CR594137 BM803188 
    BU076068 BP343024 BF965200 AI566515 AI921272 BU752633 BI850322 AA582996 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for LUM    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3a · 3b · 3c
    SP1:                                                      
    SP2:                    -     -                           
    SP3:                    -                                 


    ECgene alternative splicing isoforms for LUM

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


    LUM expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 26) fully expand
     
     Tendon & Ligament (Muscoskeletal System)    fully expand to see all 4 entries
             Early Tenocyte Cells Limb Tendon Primordia
     
     Bone (Muscoskeletal System)    fully expand to see all 3 entries
             Mesenchymal Condensate Cells Zeugopod
             Rib
             HyStem+TGFbeta3+GDF5-induced E15 cells
     
     Cartilage (Muscoskeletal System)    fully expand to see all 3 entries
             Intervertebral Disc Nucleus Pulposus Cells Nucleus Pulposus
             HyStem+TGFbeta3+GDF5-induced E15 cells
     
     Ovary (Reproductive System)    fully expand to see all 3 entries
             Pre-Granulosa Cells Primordial Follicle
     
     NULL (Uncategorized)    fully expand to see all 3 entries
             Vascular endothelial growth factor-induced embryoid bodies
    LUM Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    LUM Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.406475

    UniProtKB/Swiss-Prot: LUM_HUMAN, P51884
    Tissue specificity: Cornea and other tissues

        Custom PCR Arrays for LUM
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    QuantiTect SYBR Green Assays in human, mouse, rat LUM
    QuantiFast Probe-based Assays in human, mouse, rat LUM
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LUM

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

    Orthologs for LUM gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Lum1 , 5 lumican1, 5 82.45(n)1
    86.69(a)1
      10 (50.32 cM)5
    170221  NM_008524.21  NP_032550.21 
     975655015 
    chicken
    (Gallus gallus)
    Aves LUM1 lumican 69.94(n)
    70.24(a)
      417891  NM_001276357.1  NP_001263286.1 
    lizard
    (Anolis carolinensis)
    Reptilia LUM6
    lumican
    65(a)
    1 ↔ 1
    5(32342766-32353400)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC645272 hypothetical protein MGC64527 73.93(n)    BC054282.1 
    zebrafish
    (Danio rerio)
    Actinopterygii lum1 lumican 57.35(n)
    51.75(a)
      415149  NM_001002059.1  NP_001002059.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for LUM gene
    PODN2  FLRT12  PODNL12  FMOD2  KERA2  PRELP2  FLRT32  OMD2  
    ASPN2  BGN2  DCN2  FLRT22  ECM22  LOC1005090912  
    8 SIMAP similar genes for LUM using alignment to 1 protein entry:     LUM_HUMAN:
    FMOD    KERA    MST161    PRELP    OMD    ASPN
    DCN    BGN

    LUM for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for LUM (see all 285)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs778621481,2
    C,F--91496761(+) CTCCAC/TACATA 1 -- ds50011Minor allele frequency- T:0.16WA 118
    rs787732721,2
    C,F--91496764(+) CACACA/GTAGGT 1 -- ds50011Minor allele frequency- G:0.16WA 118
    rs117561,2
    C,F,O--91496824(+) GAGTAT/GTTATC 1 -- ds50016Minor allele frequency- G:0.11MN NA 634
    rs1421985391,2
    --91497004(+) TTTCTC/TGACAA 1 -- ds50010--------
    rs742378721,2
    C--91497020(+) GAGTGA/GGTGCT 1 -- ds50013Minor allele frequency- G:0.16CSA WA EA 240
    rs797526081,2
    C,F--91497040(+) TAGCAG/TCTTCT 1 -- ds50011Minor allele frequency- T:0.03EA 120
    rs170187151,2
    C,F--91497053(+) TCTAAT/CAGAAT 1 -- ds50013Minor allele frequency- C:0.01NA 142
    rs1459264151,2
    --91497175(+) GTGAAC/TGCTAG 1 -- ds50010--------
    rs1837924871,2
    --91497240(+) AGGCCA/GGAGAT 1 -- ut310--------
    rs37418361,2
    C,F,H--91497272(-) TACATA/CAAACA 1 -- ut31 ese314Minor allele frequency- C:0.09NS EA CSA 2098

    HapMap Linkage Disequilibrium report for LUM (91496406 - 91505608 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for LUM:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv210n27CNV Loss19166990
    nsv899429CNV Loss21882294
    nsv899425CNV Gain21882294
    nsv899428CNV Gain21882294

    Human Gene Mutation Database (HGMD): LUM
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing LUM
    DNA2.0 Custom Variant and Variant Library Synthesis for LUM

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 600616    OMIM disorders: --

    Selected diseases for LUM (see all 32):    
    About MalaCards
    macular corneal dystrophy    posterior amorphous corneal dystrophy    corneal dystrophy    morquio syndrome b
    sly syndrome    mucopolysaccharidoses    myopia    lung adenocarcinoma
    fatty liver disease    leprosy    pulmonary function    liver disease
    lateral sclerosis    amyotrophic lateral sclerosis    osteosarcoma    cervical cancer
    systemic lupus erythematosus    cervicitis    osteoarthritis    pancreatic cancer

    1 disease from the University of Copenhagen DISEASES database for LUM:
    Myopia

    LUM for disorders           About GeneDecksing

    Genetic Association Database (GAD): LUM
    Human Genome Epidemiology (HuGE) Navigator: LUM (46 documents)

    Export disorders for LUM gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for LUM gene, integrated from 10 sources (see all 74):
    (articles sorted by number of sources associating them with LUM)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Primary structure of human lumican (keratan sulfate proteoglycan) and localization of the gene (LUM) to chromosome 12q21.3-q22. (PubMed id 7558030)1, 2, 3, 9 Chakravarti S....Hassell J.R. (Genomics 1995)
    2. Association of the lumican gene functional 3'-UTR polymorphism with high myopia. (PubMed id 19643966)1, 4, 9 Lin H.J....Tsai F.J. (amp 2010)
    3. The association between lumican gene polymorphisms and high myopia. (PubMed id 20010793)1, 4 Lin H.J....Tsai F.J. (Eye (Lond) 2010)
    4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    5. High myopia is not associated with the SNPs in the TGIF, lumican, TGFB1, and HGF genes. (PubMed id 19060265)1, 4 Wang P....Zhang Q. (amp 2009)
    6. The association of haplotype at the lumican gene with high myopia susceptibility in Taiwanese patients. (PubMed id 19616852)1, 4 Chen Z.T....Lin L.L. (Ophthalmology 2009)
    7. Association of breast cancer susceptibility variants with risk of pancreatic cancer. (PubMed id 19843670)1, 4 Couch F.J....Petersen G.M. (amp 2009)
    8. Genetic variation in stromal proteins decorin and lumican with breast cancer: investigations in two case-control studies. (PubMed id 19036156)1, 4 Kelemen L.E....Vachon C.M. (Breast Cancer Res. 2008)
    9. The association of single nucleotide polymorphisms in the 5'-regulatory region of the lumican gene with susceptibility to high myopia in Taiwan. (PubMed id 16902402)1, 4 Wang I.J....Lin L.L. (Mol. Vis. 2006)
    10. Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PubMed id 16335952)1, 2 Liu T.... Smith R.D. (J. Proteome Res. 2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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

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    Entrez Gene: 4060 HGNC: 6724 AceView: LUM Ensembl:ENSG00000139329 euGenes: HUgn4060
    ECgene: LUM Kegg: 4060 H-InvDB: LUM

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for LUM Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for LUM Genetics and Cytogenetics in Oncology and Haematology

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

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    Patent Information for LUM gene:
    Search GeneIP for patents involving LUM

    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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