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

DLG3 Gene

protein-coding   GIFtS: 68
GCID: GC0XP069664

Discs, Large Homolog 3 (Drosophila)

(Previous names: discs, large homolog 3 (neuroendocrine-dlg, Drosophila))
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

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

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, and among its related super-pathways are Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell and Axon guidance. GO annotations related to this gene include PDZ domain binding and protein C-terminus binding. An important paralog of this gene is MPP6.

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NT_011669.17  NC_018934.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for DLG3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: 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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q92796

  • DLG3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    DLG3 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001159750.1  NP_065781.1  NP_066943.2  

    ENSEMBL proteins: 
     ENSP00000194900   ENSP00000363480   ENSP00000363475   ENSP00000441393  
    Reactome Protein details: Q92796
    Human Recombinant Protein Products for DLG3: 
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    Cloud-Clone Corp. Proteins for DLG3 

    Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005886plasma membrane TAS--
    GO:0005911cell-cell junction ----
    GO:0005923tight junction IEA--
    GO:0030426growth cone IEA--

    DLG3 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/9 InterPro protein domains (see all 9):
     IPR008144 Guanylate_kin
     IPR008145 Guanylate_kin/L-typ_Ca_channel
     IPR016313 M-assoc_guanylate_kinase
     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


    DLG3 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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): 5/9 molecular function terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004385guanylate kinase activity NAS--
    GO:0005515protein binding IPI19118189
    GO:0008022protein C-terminus binding IEA--
    GO:0019902phosphatase binding IDA19389623
    GO:0019903protein phosphatase binding IEA--
         
    DLG3 for ontologies           About GeneDecksing


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

    DLG3 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Dlg3tm1Grnt for DLG3

       inGenious Targeting Laboratory - Custom generated mouse model solutions for DLG3 
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for DLG3 About   (see all 7)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Transmission across Chemical Synapses
    Transmission across Chemical Synapses0.72
    Neuronal System0.67
    Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell0.72
    2Axon guidance
    Axon guidance0.69
    L1CAM interactions0.39
    Developmental Biology0.69
    3Prostacyclin signalling through prostacyclin receptor
    Activation of Kainate Receptors upon glutamate binding0.70
    Activation of Ca-permeable Kainate Receptor0.33
    Ionotropic activity of Kainate Receptors0.33
    4NrCAM interactions
    NrCAM interactions
    5Neuroscience
    Neuroscience

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for DLG3
        Calcium channels


    1 Cell Signaling Technology (CST) Pathway for DLG3
        Neuroscience

    5/10        Reactome Pathways for DLG3 (see all 10)
        L1CAM interactions
    Developmental Biology
    Activation of Kainate Receptors upon glutamate binding
    Transmission across Chemical Synapses
    Neuronal System


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


    DLG3 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for DLG3

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

    5/107 Interacting proteins for DLG3 (Q927961, 2, 3 ENSP000003634804) via UniProtKB, MINT, STRING, and/or I2D (see all 107)
    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): 5/6 biological process terms (GO ID links to tree view) (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

    DLG3 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    DLG3 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    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)

    Search CenterWatch for drugs/clinical trials and news about DLG3

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for DLG3 gene (3 alternative transcripts): 
    NM_001166278.1  NM_020730.2  NM_021120.3  

    Unigene Cluster for DLG3:

    Discs, large homolog 3 (Drosophila)
    Hs.721586  [show with all ESTs]
    Unigene Representative Sequence: NM_021120
    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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    Additional mRNA sequence: 

    AB033058.1 AB209328.1 AK303377.1 AK304020.1 AK315041.1 AK316518.1 BC093864.1 BC093866.1 
    U49089.1 

    7 DOTS entries:

    DT.443957  DT.95274749  DT.100782358  DT.121281100  DT.91842833  DT.40216899  DT.91718296 

    24/179 AceView cDNA sequences (see all 179):

    BM504109 BM475706 AW473767 BM451879 BM804357 BU782687 AA765737 AI628170 
    BU784486 AI628529 BM471650 BU735993 BU186986 BQ187175 AW182851 BQ267399 
    BM679440 AI272678 AI628192 BX282195 BQ008470 CK905157 BQ232694 BM977747 

    GeneLoc Exon Structure

    5/7 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    DLG3 expression in normal human tissues (normalized intensities)      DLG3 embryonic expression: see
    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 
     5/4 selected tissues (see all 4) fully expand
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Cerebral Cortex
             superior temporal gyrus   
     
     Breast (Uncategorized)
             breast ductal cells   
     
     Neural Tube (Nervous System)
             Metencephalon
     
     Spinal Cord (Nervous System)

    See DLG3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DLG3

    SOURCE GeneReport for Unigene cluster: Hs.721586
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    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)
    About This Section

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for DLG3 gene from 8/15 species (see all 15)    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) 82.73(n)
    93.09(a)
      428706  XM_426264.3  XP_426264.3 
    lizard
    (Anolis carolinensis)
    Reptilia DLG36
    --
    --
    91(a)
    59(a)
    1 ↔ 1
    possible ortholog
    GL343758.1(1990-49090)
    GL344541.1(21969-29886)
    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 dlg31 discs, large homolog 3 (Drosophila) 78.01(n)
    87.33(a)
      564081  XM_003199922.1  XP_003199970.1 
    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)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes GUK16
    Guanylate kinase, converts GMP to GDP; required fo...
    31(a)
    1 → many
    IV(1366264-1366827)


    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)
    About This Section
    Paralogs for DLG3 gene
    MPP62  MPP72  MPP52  DLG22  MPP22  MPP42  DLG42  DLG12  
    CASK2  MPP12  MPP32  
    14 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
    DKFZp666F1010    PDZD11

    DLG3 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/822 SNPs in DLG3 are shown (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
    SABiosciences Cancer Mutation PCR Assays
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    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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 300189    OMIM disorders: --

    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 adaptative 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

  • 17 diseases for DLG3:    About MalaCards
    partington syndrome    non-specific x-linked mental retardation    fryns syndrome    fg syndrome
    borjeson-forssman-lehmann syndrome    bipolar disorder    fragile x syndrome    mental retardation
    autism spectrum disorder    intellectual disability    hypogonadism    microcephaly
    mental retardation, x-linked    schizophrenia    short stature    huntington's disease
    neuronitis

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

    DLG3 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    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)
    About This Section

    PubMed articles for DLG3 gene, integrated from 9 sources (see all 88):
    (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. (2004)
    2. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    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. (2008)
    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. (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. (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. (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. (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. (1997)
    9. Binding of neuroligins to PSD-95. (PubMed id 9278515)1, 2 Irie M.... Suedhof T.C. (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. (2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1741 HGNC: 2902 AceView: DLG3 Ensembl:ENSG00000082458 euGenes: HUgn1741
    ECgene: DLG3 Kegg: 1741 H-InvDB: DLG3

    (According to HUGE)
    About This Section
    HUGE: KIAA1232

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for DLG3 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for DLG3 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/DLG3

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



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    About This Section

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

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