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Aliases & Descriptions for DLG3
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases KIAA1232 1 , 2 , 3 MRX 2 MRX90 1 , 2 , 5 NE-Dlg 1 , 2 NEDLG 1 , 2 , 5 Neuroendocrine-DLG 3 OTTHUMP00000023475 2 OTTHUMP00000023476 2 SAP-102 1 , 2 SAP102 1 , 2 , 3 , 5 XLMR 3 neuroendocrine-dlg 2
Descriptions Synapse-associated protein 102 2 , 3 bA291O7.3 (discs, large Drosophila homolog 3 (neuroendocrine-dlg) ) 2 discs large homolog 3 2 discs, large homolog 3 (Drosophila) 2 discs, large homolog 3 (neuroendocrine-dlg, Drosophila) 1 , 2
Search outside databases for aliases for DLG3 genePrevious GC identifers: GC0XP065842 GC0XP067142 GC0XP067897 GC0XP068531 GC0XP069447
Summaries for DLG3 (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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UniProtKB/Swiss-Prot: DLG3_HUMAN, Q92796 Function : Required for learning most likely through its role in synaptic plasticity following NMDAreceptor signaling
Gene Wiki entry for DLG3
Genomic Location for DLG3
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
Genomic Views according to
UCSC and
Ensembl ,
Transcription factor binding sites according to
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the DLG3 gene 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) GeneLoc gene densities for chromosome X GeneLoc Exon Structure
GeneLoc location for GC0XP069581:
(about GC identifiers )
Start:
69,581,449 bp from pter
End:
69,642,062 bp from pter
Size:
60,614 bases
Orientation:
plus strand
RefSeq DNA sequence: NC_000023.9 NT_011669.16 Proteins for DLG3
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
Invitrogen ,
Millipore ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
Antibodies by Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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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 GRIN2B and SYNGAP1. Interacts through its guanylatekinase-like domain with DLGAP1, DLGAP2, DLGAP3 and DLGAP4 (By similarity). Interacts through itsPDZ domains with APC. Interacts through its first two PDZ domains with ERBB4. Interacts throughits third PDZ domain with NLGN1, and probably with NLGN2 and NLGN3
PDB structures from and Proteopedia : 1UM7 (3D)
 2FE5 (3D)
 2I1N (3D)
 
Secondary accessions : Q5JUW7 Q9ULI8Alternative splicing : 2 isoforms : Q92796-1 Q92796-2 (Named isoforms)
Post-translational modifications:
View phosphorylation sites using PhosphoSite 2
REFSEQ proteins (2 alternative transcripts):
NP_065781.1 NP_066943.2 ENSEMBL proteins: ENSP00000363475 ENSP00000363480 ENSP00000194900 Human Recombinant Proteins               OriGene Purified Recombinant Human Protein: DLG3 3 Gene Ontology (GO) cellular component terms (links to tree view) :
About this table Antibodies for DLG3: Assays for DLG3:
Protein
Domains/ Families for DLG3(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry Q92796 ProtoNet protein and cluster: Q92796
3 Blocks protein families : IPB001452 SH3 domain signature IPB001478 PDZ/DHR/GLGF domain IPB008144 Guanylate kinase UniProtKB/Swiss-Prot: DLG3_HUMAN, Q92796 Similarity : Belongs to the MAGUK familySimilarity : Contains 1 guanylate kinase-like domainSimilarity : Contains 3 PDZ (DHR) domainsSimilarity : Contains 1 SH3 domain
Gene Function for DLG3
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
OriGene ,
Sigma-Aldrich , RNAi from
Sigma-Aldrich ,
RNAi Products ,
Clones , and
Q-PCR Products
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Millipore ,
OriGene , and/or
Abnova ,
siRNAs from
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SYBR primers from OriGene ,
Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_020730 Applied Biosystems Silencer ® siRNAs for DLG3 Sigma-Aldrich siRNA and siRNA Panels for DLG3 Sigma-Aldrich shRNA for DLG3 Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_020730                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_020730                                  untagged cDNA clones in CMV expression vector (see all 2 ): NM_020730  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_021120 UniProtKB/Swiss-Prot: DLG3_HUMAN, Q92796 Function : Required for learning most likely through its role in synaptic plasticity following NMDAreceptor signaling
Genatlas biochemistry entry for DLG3 :Drosophila tumor suppressor gene,discs large (Dlg) homolog 3,100kDa,expressed in neuronal andendocrine tissues,putative negative regulator of cell proliferation,through its interaction withAPC,critical for synaptogenesis
3 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Dlg3) :2 Gene Ontology (GO) molecular function terms (links to tree view) :
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Pathways & Interactions for DLG3
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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1 Sigma-Aldrich "Your Favorite Gene" Pathway for DLG3 (Your Favorite Gene powered by Ingenuity) Gene Network CentralTM Interacting Genes and Proteins Network for DLG3 5/52 Interacting proteins for DLG3 (ENSP00000194900 3 Q92796 1 , 2 ) via UniProtKB, MINT, and/or STRING (see all 52
)About this table 1 Gene Ontology (GO) biological process term (links to tree view) :
GO ID Qualified GO term Evidence PubMed IDs GO:0008285 negative regulation of cell proliferation
NAS 9188857
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Drugs & Compounds for DLG3 (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
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Browse Tocris compounds for DLG3 2 Novoseek chemical compound relationships for DLG3 gene
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Transcripts for DLG3(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from Invitrogen ,
Millipore , and/or
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siRNAs from Applied Biosystems ,
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shRNA from
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_020730 Sigma-Aldrich siRNA and siRNA Panels for DLG3 Sigma-Aldrich shRNA for DLG3 Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_020730 NM_021120
REFSEQ mRNAs for DLG3 gene (2 alternative transcripts): NM_020730.1 NM_021120.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_020730 NM_021120
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_020730                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_020730                                  untagged cDNA clones in CMV expression vector (see all 2 ): NM_020730  
Additional cDNA 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.40216899 DT.91842833 DT.91718296
24/179 AceView cDNA sequences (see all 179
):AI628170 BM471650 AI628529 BU784486 BM310300 BQ933278 T09193 AB033058 AW182851 BM698201 BM804357 BU071042 BM976042 BM313692 AI628192 BU186986 BU735993 AA765737 BU782687 BX282195 BM451879 AI272678 BQ187175 BQ008470
highest scoring ESTs for DLG3 :AI628170 U49089 AA099876 AA297785 AA297786 AA307058 AA351762 AA464141 AA477443 AA477567
Unigene Cluster for DLG3: Discs, large homolog 3 (Drosophila) Hs.716481 [show with all ESTs ] Unigene Representative Sequence: NM_021120 GeneLoc Exon Structure 5/7 Alternative Splicing Database (ASD) splice patterns (SP) for DLG3 (see all 7
) 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 :      
About this scheme ECgene alternative splicing isoforms for DLG3 3 Ensembl transcripts including schematic representations : ENST00000374355
ENST00000374360
ENST00000194900
Expression for DLG3
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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DLG3 expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for DLG3 1 / 2 / 3
11 probe-sets matching DLG3 gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: --SOURCE GeneReport for Unigene cluster: Hs.716481 Expression variation in blood from EXPOLDB for DLG3
Orthologs for DLG3
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for DLG3 gene from 5/9 species (see all 9
)
About this table Species with no ortholog for DLG3 ENSEMBL Gene Tree for DLG3 Paralogs for DLG3 (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for DLG3 gene GUK1 2
SNPs/Variants for DLG3 (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for DLG3 (up to first 250kb)
Disorders & Mutations for DLG3
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
Novoseek , PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
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and/or TGDB .)
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OMIM: 300189 UniProtKB/Swiss-Prot: DLG3_HUMAN, Q92796
Defects in DLG3 are the cause of mental retardation X-linked type 90 (MRX90) [MIM:300189].Mental retardation is characterized by significantly sub-average general intellectual functioningassociated with impairments in adaptative behavior and manifested during the developmental period.Non-syndromic mental retardation patients do not manifest other clinical signs
3 Novoseek disease relationships for DLG3 gene
About this table Human Gene Mutation Database : DLG3 Human Genome Epidemiology Navigator: DLG3 (1 document)
Medical News for DLG3 (Possibly Related Articles in
Doctor's Guide )
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--
Publications for DLG3 (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/66 PubMed articles for DLG3 gene (see all 66
): Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation. (PubMed id 15185169) 1, 3, 4 Tarpey P.... Raymond F.L. (2004) The neuregulin receptor ErbB-4 interacts with PDZ-containing proteins at neuronal synapses. (PubMed id 10725395) 3, 4 Garcia R.A.... Buonanno A. (2000) 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) 3, 4 Nagase T....Ohara O. (1999) 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) 2, 3 Stathakis D.G....Bryant P.J. (1998) 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) 3, 4 Makino K.... Saya H. (1997) Binding of neuroligins to PSD-95. (PubMed id 9278515) 3, 4 Irie M.... Suedhof T.C. (1997) 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, 3 Seabold G.K....Hell J.W. (2003) DLG3/SAP102 protein expression in malformations of cortical development: a study of human epileptic cortex by tissue microarray. (PubMed id 19167192) 1, 3 Qu M....Smits A. (2009) Selective binding of synapse-associated protein 97 to GluR-A alpha-amino-5-hydroxy-3-methyl-4-isoxazole propionate receptor subunit is determined by a novel sequence motif. (PubMed id 12070168) 1, 3 Cai C....Keinanen K. (2002) Compartmentalized NRG signaling and PDZ domain-containing proteins in synapse structure and function. (PubMed id 12175853) 1, 3 Huang Y.Z....Mei L. (2002)
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Genome Databases showing DLG3
(According to
Entrez Gene ,
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AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing DLG3
(According to HUGE )
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Specialized Databases showing DLG3 (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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-- Services for DLG3 (Reagents available from Applied Biosystems , Antibodies and assays by Cell
Signaling Technology , Abcam , Novus Biologicals ,Sigma-Aldrich , R&D Systems , Millipore , Abnova , and/or Invitrogen , Clones available from OriGene ,and/or Invitrogen , Drugs and/or compounds by Sigma-Aldrich , Enzo Life Sciences , and/or Tocris Bioscience )About This Section
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Products for DLG3:
Antibodies & Assays for DLG3   (SAP102)
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