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DLG5 Gene

protein-coding   GIFtS: 57
GCID: GC10M079550

Discs, Large Homolog 5 (Drosophila)

(Previous names: discs, large (Drosophila) homolog 5)
  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
Discs, Large Homolog 5 (Drosophila)1 2     LP-DLG2
PDLG2 3 5     P-DLG52
Discs Large Protein P-Dlg2 3     Discs Large Protein LP-DLG2
Placenta And Prostate DLG2 3     Disks Large Homolog 52
KIAA05833 5     Large Type Of P-DLG2
Discs, Large (Drosophila) Homolog 51     

External Ids:    HGNC: 29041   Entrez Gene: 92312   Ensembl: ENSG000001512087   OMIM: 6040905   UniProtKB: Q8TDM63   

Export aliases for DLG5 gene to outside databases

Previous GC identifers: GC10M078507 GC10M078760 GC10M079442 GC10M078895 GC10M079220 GC10M073546


(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 DLG5 Gene:
This gene encodes a member of the family of discs large (DLG) homologs, a subset of the membrane-associated
guanylate kinase (MAGUK) superfamily. The MAGUK proteins are composed of a catalytically inactive guanylate
kinase domain, in addition to PDZ and SH3 domains, and are thought to function as scaffolding molecules at sites
of cell-cell contact. The protein encoded by this gene localizes to the plasma membrane and cytoplasm, and
interacts with components of adherens junctions and the cytoskeleton. It is proposed to function in the
transmission of extracellular signals to the cytoskeleton and in the maintenance of epithelial cell structure.
Alternative splice variants have been described but their biological nature has not been determined. (provided by
RefSeq, Jul 2008)

GeneCards Summary for DLG5 Gene:
DLG5 (discs, large homolog 5 (Drosophila)) is a protein-coding gene. Diseases associated with DLG5 include papilledema, and sclerosing cholangitis. GO annotations related to this gene include receptor signaling complex scaffold activity and beta-catenin binding. An important paralog of this gene is TJP3.

UniProtKB/Swiss-Prot: DLG5_HUMAN, Q8TDM6
Function: May play a role at the plasma membrane in the maintenance of the structure of epithelial cells and in
the transmission of extracellular signals to the membrane and cytoskeleton

Gene Wiki entry for DLG5 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_000010.11  NT_030059.14  NT_187580.1  NC_018921.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the DLG5 gene promoter:
         Tal-1   Meis-1b   Egr-4   E47   NF-AT4   Sox9   Meis-1a   Hlf   Ik-1   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 4): DLG5 promoter sequence
   Search Chromatin IP Primers for DLG5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DLG5


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

Entrez Gene cytogenetic band: 10q23   Ensembl cytogenetic band:  10q22.3   HGNC cytogenetic band: 10q23

DLG5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DLG5 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10M079550:  view genomic region     (about GC identifiers)

Start:
79,550,549 bp from pter      End:
79,686,378 bp from pter
Size:
135,830 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: DLG5_HUMAN, Q8TDM6 (See protein sequence)
Recommended Name: Disks large homolog 5  
Size: 1919 amino acids; 213868 Da
Subunit: Interacts with MPP1. Interacts with CTNNB1 and with the third SH3 domain of SORBS3 to form a ternary
complex
Sequence caution: Sequence=AAI17696.1; Type=Erroneous initiation; Sequence=BAA25509.2; Type=Erroneous initiation;
1 PDB 3D structure from and Proteopedia for DLG5:
1UIT (3D)    
Secondary accessions: A6H8Y3 Q149N1 Q5T1H7 Q5T1H8 Q6DKG3 Q86WC0 Q8TDM7 Q9UE73 Q9Y4E3
Alternative splicing: 5 isoforms:  Q8TDM6-1   Q8TDM6-2   Q8TDM6-3   Q8TDM6-4   Q8TDM6-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for DLG5: NX_Q8TDM6

Explore proteomics data for DLG5 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See DLG5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_004738.3  
    ENSEMBL proteins: 
     ENSP00000394797   ENSP00000361467   ENSP00000473298   ENSP00000361464  

    DLG5 Human Recombinant Protein Products:

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    Novus Biologicals DLG5 Protein
    Novus Biologicals DLG5 Lysate
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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for DLG5

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    Abcam antibodies for DLG5
    Cloud-Clone Corp. Antibodies for DLG5
    Search ThermoFisher Antibodies for DLG5
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    DLG5 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. CLIAs for DLG5


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 8):
     IPR008144 Guanylate_kin-like
     IPR006907 DUF622
     IPR008145 GK/Ca_channel_bsu
     IPR011029 DEATH-like_dom
     IPR001452 SH3_domain

    Graphical View of Domain Structure for InterPro Entry Q8TDM6

    ProtoNet protein and cluster: Q8TDM6

    3 Blocks protein domains:
    IPB001478 PDZ/DHR/GLGF domain
    IPB008144 Guanylate kinase
    IPB011511 Variant SH3


    UniProtKB/Swiss-Prot: DLG5_HUMAN, Q8TDM6
    Similarity: Belongs to the MAGUK family
    Similarity: Contains 1 guanylate kinase-like domain
    Similarity: Contains 4 PDZ (DHR) domains
    Similarity: Contains 1 SH3 domain


    DLG5 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DLG5_HUMAN, Q8TDM6
    Function: May play a role at the plasma membrane in the maintenance of the structure of epithelial cells and in
    the transmission of extracellular signals to the membrane and cytoskeleton

         Genatlas biochemistry entry for DLG5:
    Drosophila tumor suppressor gene,discs large 5,giant larvae homolog,expressed in placenta and in epithelial glands
    (prostate),interacting with p55 palmitoylated membrane protein and putatively involved in the maintenance of the
    structure of epithelial cell

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
    GO:0008013beta-catenin binding IDA12657639
    GO:0008092cytoskeletal protein binding IDA12657639
    GO:0030159receptor signaling complex scaffold activity NAS12353226
         
    DLG5 for ontologies           About GeneDecksing


    Phenotypes:
         7 MGI mutant phenotypes (inferred from 1 allele(MGI details for Dlg5):
     behavior/neurological  cellular  craniofacial  growth/size/body  homeostasis/metabolism 
     nervous system  renal/urinary system 

    DLG5 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DLG5
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for DLG5

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for DLG5
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for DLG5

    miRNA
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    miRTarBase miRNAs that target DLG5:
    hsa-mir-215-5p (MIRT024569), hsa-mir-192-5p (MIRT004847), hsa-mir-20a-5p (MIRT050554), hsa-mir-484 (MIRT042178)

    Block miRNA regulation of human, mouse, rat DLG5 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate DLG5 (see all 56):
    hsa-miR-548j hsa-miR-188-5p hsa-miR-1258 hsa-miR-25 hsa-miR-301a hsa-miR-30d hsa-miR-192 hsa-miR-519a
    SwitchGear 3'UTR luciferase reporter plasmidDLG5 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat DLG5

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: DLG5 (NM_004747)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DLG5
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DLG5

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for DLG5 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DLG5


    (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
    DLG5_HUMAN, Q8TDM6: Cell junction. Cell membrane; Peripheral membrane protein. Note=Localized at sites of
    cell-cell contact
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    nucleus3
    cytosol2

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005737cytoplasm TAS9738934
    GO:0005886plasma membrane IEA--
    GO:0005913cell-cell adherens junction IEA--

    DLG5 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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        Pathway & Disease-focused RT2 Profiler PCR Array including DLG5: 
              Adherens Junctions in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for DLG5

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

    Selected Interacting proteins for DLG5 (Q8TDM61, 2, 3 ENSP000003614674) via UniProtKB, MINT, STRING, and/or I2D (see all 49)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SORBS3O605042, 3, ENSP000002401234MINT-17378 MINT-17377 I2D: score=3 STRING: ENSP00000240123
    PFN1P077372, 3, ENSP000002256554MINT-63427 I2D: score=5 STRING: ENSP00000225655
    BTBD10Q9BSF82, 3MINT-65326 I2D: score=5 
    CD81P600332, 3, ENSP000002636454MINT-63912 I2D: score=5 STRING: ENSP00000263645
    DTNBO609413, ENSP000003840844I2D: score=5 STRING: ENSP00000384084
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007165signal transduction TAS9738934
    GO:0008285negative regulation of cell proliferation TAS9738934
    GO:0016337cell-cell adhesion NAS12353226
    GO:0035556intracellular signal transduction NAS12353226
    GO:0042981regulation of apoptotic process IEA--

    DLG5 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 DLG5



    (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 DLG5 gene: 
    NM_004747.3  

    Unigene Cluster for DLG5:

    Discs, large homolog 5 (Drosophila)
    Hs.652690  [show with all ESTs]
    Unigene Representative Sequence: BC146794
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000424842(uc001jzi.3) ENST00000475613 ENST00000372391(uc001jzj.3 uc001jzk.3 uc009xru.1)
    ENST00000463362 ENST00000459739 ENST00000468332(uc001jzl.4) ENST00000489547
    ENST00000484525 ENST00000476354 ENST00000466198 ENST00000372388
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat DLG5 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate DLG5 (see all 56):
    hsa-miR-548j hsa-miR-188-5p hsa-miR-1258 hsa-miR-25 hsa-miR-301a hsa-miR-30d hsa-miR-192 hsa-miR-519a
    SwitchGear 3'UTR luciferase reporter plasmidDLG5 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for DLG5
    Predesigned siRNA for gene silencing in human, mouse, rat DLG5
    Clone
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    OriGene clones in human, mouse for DLG5 (see all 7)
    OriGene ORF clones in mouse, rat for DLG5
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: DLG5 (NM_004747)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DLG5
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DLG5
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for DLG5
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat DLG5
      QuantiTect SYBR Green Assays in human, mouse, rat DLG5
      QuantiFast Probe-based Assays in human, mouse, rat DLG5

    Additional mRNA sequence: 

    AB011155.2 AB091676.1 AK055172.1 AK314771.1 BC015053.2 BC030250.1 BC073996.1 BC086867.1 
    BC117695.2 BC146794.1 BX649131.1 U61843.1 

    Selected DOTS entries (see all 25):

    DT.451967  DT.97759907  DT.97818646  DT.101959733  DT.100041958  DT.86846729  DT.100796572  DT.40116370 
    DT.91749142  DT.95198395  DT.91932817  DT.75148599  DT.92030642  DT.121279186  DT.121279241  DT.435304 
    DT.92442232  DT.92442234  DT.95108022  DT.95108045  DT.95220815  DT.100741522  DT.86856689  DT.91828285 

    Selected AceView cDNA sequences (see all 345):

    AI039275 BU685134 AA056020 BU687526 BF437478 AI569668 BQ670004 BC013378 
    AA418370 AI694414 AW069626 AI421067 T33039 BF368609 AL712968 AI391482 
    AI804171 BC030250 AK055172 AI951390 BU190189 AI687594 AK055265 AL536173 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for DLG5 (see all 13)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17a · 17b · 17c ^
    SP1:        -                                   -                             -                 -                                                               
    SP2:        -                                                                 -                 -                                                               
    SP3:                                            -                             -                 -                                               -     -     -   
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 18a · 18b ^ 19a · 19b · 19c ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27a · 27b · 27c ^ 28a · 28b ^ 29a · 29b ^ 30 ^ 31 ^ 32 ^ 33a · 33b ^ 34a · 34b ·
    SP1:  -           -     -                                                     -                             -                                   -               
    SP2:  -           -     -                                                     -                                                                                 
    SP3:  -           -     -                                                     -                             -                                   -               
    SP4:  -           -     -                                                     -     -                       -                                                   
    SP5:              -     -                                                     -                             -                                   -               


    ECgene alternative splicing isoforms for DLG5

    (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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    DLG5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    DLG5 Expression
    About this image

    DLG5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DLG5 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.652690

    UniProtKB/Swiss-Prot: DLG5_HUMAN, Q8TDM6
    Tissue specificity: Highly expressed in the placenta and prostate. Expressed at a lower level in the thyroid,
    spinal cord, trachea, adrenal gland, skeletal muscle, pancreas, heart, brain, liver and kidney. A short splice
    product shows more limited expression, being absent from at least the brain

        Pathway & Disease-focused RT2 Profiler PCR Array including DLG5: 
              Adherens Junctions in human mouse rat

    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for DLG5
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat DLG5
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DLG5

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

    Orthologs for DLG5 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dlg51 , 5 discs, large homolog 5 (Drosophila)1, 5 87.85(n)1
    92.18(a)1
      14 (14.26 cM)5
    712281  NM_001163513.11  NP_001156985.11 
     241339535 
    chicken
    (Gallus gallus)
    Aves DLG51 discs, large homolog 5 (Drosophila) 66.95(n)
    69.51(a)
      423728  XM_421604.3  XP_421604.3 
    lizard
    (Anolis carolinensis)
    Reptilia DLG56
    discs, large homolog 5 (Drosophila)
    67(a)
    1 ↔ 1
    GL343196.1(5174514-5322659)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.128212 Xenopus laevis transcribed sequence with weak similarity more 74.95(n)    BJ073452.1 
    zebrafish
    (Danio rerio)
    Actinopterygii dlg5a1 discs, large homolog 5a (Drosophila) 64.64(n)
    60.87(a)
      569065  NM_001145603.1  NP_001139075.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG65093   -- 38(a)   32F2   --


    ENSEMBL Gene Tree for DLG5 (if available)
    TreeFam Gene Tree for DLG5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for DLG5 gene
    TJP32  TJP22  TJP12  
    2 SIMAP similar genes for DLG5 using alignment to 3 protein entries:     DLG5_HUMAN (see all proteins):
    DKFZp761P0818    DLG4

    DLG5 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 DLG5 (see all 3044)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs581163531,2
    C--73561002(+) ACCCC-/TGCCCC 1 -- int10--------
    rs1425058171,2
    C--73574617(+) TCTTA-/GGGGGA 1 -- int10--------
    rs114460861,2
    C--73587629(+) ACTCTA/-AATCA 1 -- int12Minor allele frequency- -:0.00NA CSA 4
    rs1136497871,2
    C--73587820(+) TCTGCGAGT/-  
            
    GAGTG
    1 -- int11Minor allele frequency- -:0.50CSA 2
    rs1452411101,2
    C--73589263(+) AACAT-/CACCAC
            
    CACCA
    1 -- cds10--------
    rs1114581321,2
    C--73610715(+) TAGGG-/AC    
       
    /ACAC
    ACACA
    1 -- int11CSA 2
    rs589087671,2
    C--73610729(+) CACAC-/AC    
       
    /ACAC
    GAGCT
    1 -- int10--------
    rs724776791,2
    C--73630169(+) GAAAG-/AGAAGGAG 1 -- int10--------
    rs594796951,2
    C--73630171(+) AAGAG-/AAGGAGCT 1 -- int10--------
    rs673825051,2
    C--73631764(+) GAAGG-/AAAAAA 1 -- int11Minor allele frequency- A:0.00CSA 2

    HapMap Linkage Disequilibrium report for DLG5 (79550549 - 79686378 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for DLG5:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2738529CNV Deletion23290073
    esv27942CNV Loss19812545
    esv34173CNV Loss18971310
    esv34062CNV Loss18971310
    esv34251CNV Gain17911159
    nsv895735CNV Gain21882294
    nsv895734CNV Gain21882294
    dgv302e1CNV Complex17122850
    dgv303e1CNV Complex17122850

    Human Gene Mutation Database (HGMD): DLG5
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing DLG5
    DNA2.0 Custom Variant and Variant Library Synthesis for DLG5

    (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: 604090    OMIM disorders: --

    Selected diseases for DLG5 (see all 24):    
    About MalaCards
    papilledema    sclerosing cholangitis    primary sclerosing cholangitis    crohn's disease
    cholangitis    prostatitis    primary biliary cirrhosis    childhood leukemia
    inflammatory bowel disease    dilated cardiomyopathy    celiac disease    ulcerative colitis
    meningioma    rheumatoid arthritis    arthritis    pancreatic cancer
    colorectal cancer    pancreatitis    alzheimer's disease    obesity

    2 diseases from the University of Copenhagen DISEASES database for DLG5:
    Crohn's disease     Ulcerative colitis

    DLG5 for disorders           About GeneDecksing

    Genetic Association Database (GAD): DLG5
    Human Genome Epidemiology (HuGE) Navigator: DLG5 (40 documents)

    Export disorders for DLG5 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 DLG5 gene, integrated from 10 sources (see all 75):
    (articles sorted by number of sources associating them with DLG5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of a novel human homolog of the Drosophila dlg, P-dlg, specifically expressed in the gland tissues and interacting with p55. (PubMed id 9738934)1, 2, 3, 9 Nakamura H.... Saya H. (FEBS Lett. 1998)
    2. Association of organic cation transporter risk haplotype with perianal penetrating Crohn's disease but not with susceptibility to IBD. (PubMed id 16344053)1, 4, 9 Vermeire S....Rutgeerts P. (Gastroenterology 2005)
    3. Single nucleotide polymorphisms of OCTN1, OCTN2, and DLG5 genes in Greek patients with Crohn's disease. (PubMed id 16437728)1, 4, 9 Gazouli M....Anagnou N.P. (World J. Gastroenterol. 2005)
    4. Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. (PubMed id 22001757)1, 4 Chambers J.C....Kooner J.S. (Nat. Genet. 2011)
    5. Risk of meningioma and common variation in genes related to innate immunity. (PubMed id 20406964)1, 4 Rajaraman P....Inskip P.D. (amp 2010)
    6. Polymorphisms in innate immunity genes and risk of childhood leukemia. (PubMed id 20438785)1, 4 Han S....Kang D. (Hum. Immunol. 2010)
    7. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    8. Molecular reclassification of Crohn's disease by cluster analysis of genetic variants. (PubMed id 20886065)1, 4 Cleynen I....Vermeire S. (PLoS ONE 2010)
    9. Association of genetic profiles to Crohn's disease by linear combinations of single nucleotide polymorphisms. (PubMed id 18804983)1, 4 D'Addabbo A....Ancona N. (Artif Intell Med 2009)
    10. Genetic association of DLG5 R30Q with familial and sporadic inflammatory bowel disease in men. (PubMed id 20037206)1, 4 Lin Z....Koltun W.A. (Dis. Markers 2009)

    (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)
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    Entrez Gene: 9231 HGNC: 2904 AceView: DLG5 Ensembl:ENSG00000151208 euGenes: HUgn9231
    ECgene: DLG5 H-InvDB: DLG5

    (According to HUGE)
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    HUGE: KIAA0583

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for DLG5 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for DLG5 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for DLG5 gene:
    Search GeneIP for patents involving DLG5

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



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