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DLG3 Gene

protein-coding   GIFtS: 66
GCID: GC0XP069664

Discs, Large Homolog 3 (Drosophila)

(Previous names: discs, large homolog 3 (neuroendocrine-dlg, Drosophila))
  See DLG3-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 3 (Drosophila)1 2     neuroendocrine-dlg1
SAP1022 3 5     MRX2
Synapse-Associated Protein 1022 3     Disks Large Homolog 32
XLMR2 3     neuroendocrine-DLG2
MRX902 5     KIAA12323
NEDLG2 5     Neuroendocrine-DLG3
Discs, Large Homolog 3 (Neuroendocrine-Dlg, Drosophila)1     SAP-1023

External Ids:    HGNC: 29021   Entrez Gene: 17412   Ensembl: ENSG000000824587   OMIM: 3001895   UniProtKB: Q927963   

Export aliases for DLG3 gene to outside databases

Previous GC identifers: GC0XP065842 GC0XP067142 GC0XP067897 GC0XP068531 GC0XP069447 GC0XP069581 GC0XP063486


(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 DLG3 Gene:
This gene encodes a member of the membrane-associated guanylate kinase protein family. The encoded protein may
play a role in clustering of NMDA receptors at excitatory synapses. It may also negatively regulate cell
proliferation through interaction with the C-terminal region of the adenomatosis polyposis coli tumor suppressor
protein. Mutations in this gene have been associated with X-linked mental retardation. Alternatively spliced
transcript variants have been described. (provided by RefSeq, Oct 2009)

GeneCards Summary for DLG3 Gene:
DLG3 (discs, large homolog 3 (Drosophila)) is a protein-coding gene. Diseases associated with DLG3 include partington syndrome, and non-specific x-linked mental retardation. GO annotations related to this gene include PDZ domain binding and protein C-terminus binding. An important paralog of this gene is MPP7.

UniProtKB/Swiss-Prot: DLG3_HUMAN, Q92796
Function: Required for learning most likely through its role in synaptic plasticity following NMDA receptor
signaling

Gene Wiki entry for DLG3 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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Regulatory elements:
   Regulatory transcription factor binding sites in the DLG3 gene promoter:
         E2F-4   E2F-3a   E2F-5   Spz1   IRF-1   E2F-2   E2F   E2F-1   HOXA5   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): DLG3 promoter sequence
   Search Chromatin IP Primers for DLG3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DLG3


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

Entrez Gene cytogenetic band: Xq13.1   Ensembl cytogenetic band:  Xq13.1   HGNC cytogenetic band: Xq13.1

DLG3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DLG3 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP069664:  view genomic region     (about GC identifiers)

Start:
69,664,705 bp from pter      End:
69,725,340 bp from pter
Size:
60,636 bases      Orientation:
plus 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, 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: DLG3_HUMAN, Q92796 (See protein sequence)
Recommended Name: Disks large homolog 3  
Size: 817 amino acids; 90314 Da
Subunit: Interacts through its PDZ domains with NETO1, GRIN2B and SYNGAP1. Interacts through its guanylate
kinase-like domain with DLGAP1, DLGAP2, DLGAP3 and DLGAP4 (By similarity). Interacts through its PDZ domains with
APC. Interacts through its first two PDZ domains with ERBB4. Interacts through its third PDZ domain with NLGN1,
and probably with NLGN2 and NLGN3. Interacts with FRMPD4 (via C-terminus). Interacts with LRFN1, LRFN2 and LRFN4
Sequence caution: Sequence=BAA86546.1; Type=Erroneous initiation;
3 PDB 3D structures from and Proteopedia for DLG3:
1UM7 (3D)        2FE5 (3D)        2I1N (3D)    
Secondary accessions: B4E0H1 D3DVU5 Q5JUW6 Q5JUW7 Q9ULI8
Alternative splicing: 3 isoforms:  Q92796-1   Q92796-2   Q92796-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for DLG3: NX_Q92796

Explore proteomics data for DLG3 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys6
  • Modification sites at PhosphoSitePlus

  • See DLG3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001159750.1  NP_065781.1  NP_066943.2  

    ENSEMBL proteins: 
     ENSP00000194900   ENSP00000363480   ENSP00000363475   ENSP00000441393  
    Reactome Protein details: Q92796

    DLG3 Human Recombinant Protein Products:

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    (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 9):
     IPR008144 Guanylate_kin-like
     IPR008145 GK/Ca_channel_bsu
     IPR016313 DLG1
     IPR001452 SH3_domain
     IPR019583 PDZ_assoc

    Graphical View of Domain Structure for InterPro Entry Q92796

    ProtoNet protein and cluster: Q92796

    3 Blocks protein domains:
    IPB001452 SH3 domain signature
    IPB001478 PDZ/DHR/GLGF domain
    IPB008144 Guanylate kinase


    UniProtKB/Swiss-Prot: DLG3_HUMAN, Q92796
    Similarity: Belongs to the MAGUK family
    Similarity: Contains 1 guanylate kinase-like domain
    Similarity: Contains 3 PDZ (DHR) domains
    Similarity: Contains 1 SH3 domain


    Find genes that share domains with DLG3           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DLG3_HUMAN, Q92796
    Function: Required for learning most likely through its role in synaptic plasticity following NMDA receptor
    signaling

         Genatlas biochemistry entry for DLG3:
    Drosophila tumor suppressor gene,discs large (Dlg) homolog 3,100kDa,expressed in neuronal and endocrine
    tissues,putative negative regulator of cell proliferation,through its interaction with APC,critical for
    synaptogenesis

         Gene Ontology (GO): Selected molecular function terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004385guanylate kinase activity ----
    GO:0005515protein binding IPI19118189
    GO:0008022protein C-terminus binding IEA--
    GO:0019902phosphatase binding IDA19389623
    GO:0019903protein phosphatase binding IEA--
         
    Find genes that share ontologies with DLG3           About GenesLikeMe


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Dlg3):
     behavior/neurological  embryogenesis  mortality/aging  nervous system  no phenotypic analysis 

    Find genes that share phenotypes with DLG3           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Dlg3tm1Grnt for DLG3

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DLG3
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    miRNA
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    miRTarBase miRNAs that target DLG3:
    hsa-mir-615-3p (MIRT040203), hsa-mir-335-5p (MIRT017838), hsa-mir-186-5p (MIRT045183)

    Block miRNA regulation of human, mouse, rat DLG3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate DLG3 (see all 84):
    hsa-miR-548j hsa-miR-520f hsa-miR-1321 hsa-miR-200a hsa-miR-374a hsa-miR-3921 hsa-miR-629* hsa-miR-149
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    Browse Sino Biological Human cDNA Clones
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    Addgene plasmids for DLG3 

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    (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 COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    cytosol3
    cytoskeleton2
    nucleus2

    Gene Ontology (GO): Selected cellular component terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space IDA--
    GO:0005737cytoplasm IEA--
    GO:0005886plasma membrane TAS--
    GO:0005911cell-cell junction ----
    GO:0005923tight junction IEA--

    Find genes that share ontologies with DLG3           About GenesLikeMe


    (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 DLG3 About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1L1CAM interactions
    Axon guidance0.63
    L1CAM interactions0.36
    Developmental Biology0.63
    NrCAM interactions0.00
    2Transmission across Chemical Synapses
    Transmission across Chemical Synapses0.72
    Neuronal System0.68
    Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell0.72
    3ADP signalling through P2Y purinoceptor 12
    Activation of Kainate Receptors upon glutamate binding0.68
    Ionotropic activity of Kainate Receptors0.00
    Activation of Ca-permeable Kainate Receptor0.35
    4Neuroscience
    Neuroscience
    5Hippo signaling pathway
    Hippo signaling pathway


    Find genes that share SuperPaths with DLG3           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for DLG3
        Neuroscience

    2 Reactome Pathways for DLG3
        NrCAM interactions
    Activation of Ca-permeable Kainate Receptor


    1 Kegg Pathway  (Kegg details for DLG3):
        Hippo signaling pathway

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for DLG3
    Interactions:

        GeneGlobe Interaction Network for DLG3

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

    Selected Interacting proteins for DLG3 (Q927961, 2, 3 ENSP000003634804) via UniProtKB, MINT, STRING, and/or I2D (see all 166)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PPP1CAP621361, 3, ENSP000003260314EBI-80440,EBI-357253 I2D: score=1 STRING: ENSP00000326031
    GDAQ9Y2T32, 3, ENSP000003511704MINT-72657 MINT-72689 MINT-72705 MINT-72686 MINT-72690 MINT-72685 I2D: score=3 STRING: ENSP00000351170
    HIST1H2BCP628073, ENSP000003217444I2D: score=2 STRING: ENSP00000321744
    HIST1H2BFP628073, ENSP000003530744I2D: score=2 STRING: ENSP00000353074
    HIST1H2BEP628073I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001736establishment of planar polarity IEA--
    GO:0007268synaptic transmission TAS--
    GO:0007411axon guidance TAS--
    GO:0008285negative regulation of cell proliferation NAS9188857
    GO:0010923negative regulation of phosphatase activity IDA19389623

    Find genes that share ontologies with DLG3           About GenesLikeMe



    (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 DLG3

    5 Novoseek inferred chemical compound relationships for DLG3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    guanylate 71 4 12576483 (1), 19726651 (1), 15219743 (1), 15185169 (1)
    nmda 70.1 18 12777268 (2), 12576483 (1), 20357126 (1), 17113057 (1) (see all 12)
    glutamate 56.7 4 14969737 (1), 19795139 (1), 15219743 (1), 14684436 (1)
    kainate 28.3 1 14969737 (1)
    tyrosine 3.63 1 12576483 (1)



    Find genes that share compounds with DLG3           About GenesLikeMe



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for DLG3 gene (3 alternative transcripts): 
    NM_001166278.1  NM_020730.2  NM_021120.3  

    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000194900(uc004dyi.2) ENST00000374360 ENST00000463252 ENST00000374355(uc004dyj.2)
    ENST00000489733 ENST00000494493 ENST00000466140 ENST00000461646 ENST00000496931
    ENST00000542398(uc011mpn.2)
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    hsa-miR-548j hsa-miR-520f hsa-miR-1321 hsa-miR-200a hsa-miR-374a hsa-miR-3921 hsa-miR-629* hsa-miR-149
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    Selected AceView cDNA sequences (see all 179):

    AW182851 BX410026 BM475706 BQ267399 BX282195 AA464141 CA406438 BU782963 
    BM679440 AW511455 BM976042 BU071042 BM313692 CK905157 BQ232694 T09193 
    AB033058 BQ008470 AI628192 BM471650 BU735993 BQ187175 BU186986 AI272678 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for DLG3 (see all 7)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^
    SP1:                                            -                 -     -     -     -                             -           -                                 
    SP2:                                                              -     -     -     -                                   -                                       
    SP3:                                                                          -     -                                   -                                       
    SP4:                                                                          -     -                                   -     -                                 
    SP5:                                                                                                                    -                                       

    ExUns: 24 ^ 25a · 25b
    SP1:                  
    SP2:                  
    SP3:                  
    SP4:                  
    SP5:                  


    ECgene alternative splicing isoforms for DLG3

    (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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    DLG3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    DLG3 Expression
    About this image


    DLG3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)
             Metencephalon
     
     Spinal Cord (Nervous System)
    DLG3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DLG3 Protein Expression
        Custom PCR Arrays for DLG3
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DLG3

    (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 DLG3 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dlg31 , 5 discs, large homolog 3 (Drosophila)1, 5 93.06(n)1
    99.27(a)1
      X (43.72 cM)5
    533101  NM_016747.31  NP_058027.11 
     1007677225 
    chicken
    (Gallus gallus)
    Aves DLG31 discs, large homolog 3 (Drosophila) 81.68(n)
    93.7(a)
      428706  XM_426264.4  XP_426264.4 
    lizard
    (Anolis carolinensis)
    Reptilia DLG36
    discs, large homolog 3 (Drosophila)
    91(a)
    1 ↔ 1
    GL343758.1(1990-49090)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.153712 Transcribed sequence with moderate similarity to protein more 80.52(n)    BX694896.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1003345251 disks large homolog 3-like 78.82(n)
    89.87(a)
      100334525  XM_003199915.2  XP_003199963.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta dlg13 establishment and/or maintenance of
    polarity of more
    57(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea dlg-13 guanylate kinase 45(a)   X(5514745-5519401)   --


    ENSEMBL Gene Tree for DLG3 (if available)
    TreeFam Gene Tree for DLG3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for DLG3 gene
    MPP72  MPP62  MPP52  DLG22  MPP22  MPP42  DLG42  DLG12  
    CASK2  MPP12  MPP32  
    15 SIMAP similar genes for DLG3 using alignment to 2 protein entries:     DLG3_HUMAN (see all proteins):
    DKFZp761P0818    DLG4    DLG1    SYNJ2BP    DLG2    LIN7A
    LIN7B    TJP2    TAX1BP3    LIN7C    GUK1    DKFZp666D023
    MPP7    DKFZp666F1010    PDZD11

    Find genes that share paralogs with DLG3           About GenesLikeMe



    (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 DLG3 (see all 822)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0365914
    A colorectal cancer sample4--see VAR_0365912 G R mis40--------
    rs1382043521,2
    Cuntested169706979(+) GAATCG/AAAGAT 5 /S syn1 ut511Minor allele frequency- A:0.00NA 4552
    rs1884439371,2
    --69670759(+) TGTTTC/TGGGTC 1 -- us2k10--------
    rs1470121401,2
    C--69670840(+) ATTAGC/TCTGTG 1 -- us2k10--------
    rs125566871,2
    C,H--69670858(+) tggttT/Gtgtta 1 -- us2k18Minor allele frequency- G:0.00WA NA CSA 12
    rs1421904861,2
    --69671021(+) GTTTGC/TTCTGT 1 -- us2k10--------
    rs1932260161,2
    --69671141(+) AGTGGA/GTCACA 1 -- us2k10--------
    rs1849294221,2
    --69671460(+) ACCTAC/GGTCAA 1 -- us2k10--------
    rs1470532581,2
    --69671496(+) TGAATA/GTTTGC 1 -- us2k10--------
    rs732167141,2
    C--69671569(+) GTTCAC/TAGCGT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for DLG3 (69664705 - 69725340 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for DLG3:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv33082CNV Loss17666407
    esv1584074OTHER Inversion17803354

    Human Gene Mutation Database (HGMD): DLG3
    Locus Specific Mutation Databases (LSDB): DLG3

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing DLG3
    DNA2.0 Custom Variant and Variant Library Synthesis for DLG3

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 300189   
    OMIM disorders: 300850  
    UniProtKB/Swiss-Prot: DLG3_HUMAN, Q92796
  • Mental retardation, X-linked 90 (MRX90) [MIM:300850]: A disorder characterized by significantly below
    average general intellectual functioning associated with impairments in adaptive behavior and manifested during
    the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental
    retardation, while syndromic mental retardation presents with associated physical, neurological and/or
    psychiatric manifestations. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 5 diseases for DLG3:    
    About MalaCards
    partington syndrome    non-specific x-linked mental retardation    mental retardation, x-linked 17/31, microduplication    borjeson-forssman-lehmann syndrome
    schizophrenia

    3 diseases from the University of Copenhagen DISEASES database for DLG3:
    Intellectual disability     Partington syndrome     Fragile X syndrome

    Find genes that share disorders with DLG3           About GenesLikeMe

    3 Novoseek inferred disease relationships for DLG3 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mental retardation 64.2 16 19795139 (3), 17546640 (2), 15185169 (2), 16506138 (1) (see all 8)
    schizophrenia 40 8 18033238 (2), 17113057 (1), 16762023 (1), 12777268 (1) (see all 6)
    bipolar disorder 34.7 10 17113057 (3), 18033238 (2), 15054476 (1)

    Genetic Association Database (GAD): DLG3
    Human Genome Epidemiology (HuGE) Navigator: DLG3 (5 documents)

    Export disorders for DLG3 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 DLG3 gene, integrated from 10 sources (see all 89):
    (articles sorted by number of sources associating them with DLG3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation. (PubMed id 15185169)1, 2, 9 Tarpey P.... Raymond F.L. (Am. J. Hum. Genet. 2004)
    2. 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)
    3. Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment. (PubMed id 19086053)1, 4 GratacA^s M....Carracedo A. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2009)
    4. Preso, a novel PSD-95-interacting FERM and PDZ domain protein that regulates dendritic spine morphogenesis. (PubMed id 19118189)1, 2 Lee H.W.... Kim E. (J. Neurosci. 2008)
    5. The neuregulin receptor ErbB-4 interacts with PDZ-containing proteins at neuronal synapses. (PubMed id 10725395)1, 2 Garcia R.A.... Buonanno A. (Proc. Natl. Acad. Sci. U.S.A. 2000)
    6. Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10574462)1, 2 Nagase T.... Ohara O. (DNA Res. 1999)
    7. DLG3, the gene encoding human neuroendocrine Dlg (NE-Dlg), is located within the 1.8-Mb dystonia-parkinsonism region at Xq13.1. (PubMed id 9598320)1, 3 Stathakis D.G....Bryant P.J. (Genomics 1998)
    8. Cloning and characterization of NE-dlg: a novel human homolog of the Drosophila discs large (dlg) tumor suppressor protein interacts with the APC protein. (PubMed id 9188857)1, 2 Makino K.... Saya H. (Oncogene 1997)
    9. Binding of neuroligins to PSD-95. (PubMed id 9278515)1, 2 Irie M.... Suedhof T.C. (Science 1997)
    10. Interaction of the tyrosine kinase Pyk2 with the N-methyl-D-aspartate receptor complex via the Src homology 3 domains of PSD-95 and SAP102. (PubMed id 12576483)1, 9 Seabold G.K....Hell J.W. (J. Biol. Chem. 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 1741 HGNC: 2902 AceView: DLG3 Ensembl:ENSG00000082458 euGenes: HUgn1741
    ECgene: DLG3 Kegg: 1741 H-InvDB: DLG3

    (According to HUGE)
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    HUGE: KIAA1232

    (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 DLG3 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for DLG3 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=DLG3[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for DLG3 gene:
    Search GeneIP for patents involving DLG3

    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, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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