Free for academic non-profit institutions. Other users need a Commercial license

Aliases for DLG3 Gene

Aliases for DLG3 Gene

  • Discs Large Homolog 3 2 3
  • Discs, Large Homolog 3 (Drosophila) 2 5
  • Synapse-Associated Protein 102 3 4
  • Neuroendocrine-DLG 3 4
  • SAP102 3 4
  • XLMR 3 4
  • Discs, Large Homolog 3 (Neuroendocrine-Dlg, Drosophila) 2
  • Protein Phosphatase 1, Regulatory Subunit 82 3
  • Discs, Large Homolog 3 3
  • Protein Phosphatase 1 2
  • Regulatory Subunit 82 2
  • Neuroendocrine-Dlg 2
  • KIAA1232 4
  • PPP1R82 3
  • SAP-102 4
  • MRX90 3
  • NEDLG 3
  • MRX 3

External Ids for DLG3 Gene

Previous GeneCards Identifiers for DLG3 Gene

  • GC0XP065842
  • GC0XP067142
  • GC0XP067897
  • GC0XP068531
  • GC0XP069447
  • GC0XP069581
  • GC0XP069664
  • GC0XP063486

Summaries for DLG3 Gene

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) is a Protein Coding gene. Diseases associated with DLG3 include non-syndromic x-linked intellectual disability and partington syndrome. Among its related pathways are Transmission across Chemical Synapses and Developmental Biology. GO annotations related to this gene include ubiquitin protein ligase binding and protein C-terminus binding. An important paralog of this gene is MPP6.

UniProtKB/Swiss-Prot for DLG3 Gene

  • Required for learning most likely through its role in synaptic plasticity following NMDA receptor signaling.

Gene Wiki entry for DLG3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DLG3 Gene

Genomics for DLG3 Gene

Regulatory Elements for DLG3 Gene

Promoters for DLG3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around DLG3 on UCSC Golden Path with GeneCards custom track

Genomic Location for DLG3 Gene

Chromosome:
X
Start:
70,444,850 bp from pter
End:
70,505,490 bp from pter
Size:
60,641 bases
Orientation:
Plus strand

Genomic View for DLG3 Gene

Genes around DLG3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DLG3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DLG3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DLG3 Gene

Proteins for DLG3 Gene

  • Protein details for DLG3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92796-DLG3_HUMAN
    Recommended name:
    Disks large homolog 3
    Protein Accession:
    Q92796
    Secondary Accessions:
    • B4E0H1
    • D3DVU5
    • Q5JUW6
    • Q5JUW7
    • Q9ULI8

    Protein attributes for DLG3 Gene

    Size:
    817 amino acids
    Molecular mass:
    90314 Da
    Quaternary structure:
    • Interacts through its PDZ domains with NETO1, GRIN2B and SYNGAP1. Interacts through its guanylate kinase-like domain with DLGAP1, DLGAP2, DLGAP3 and DLGAP4. Interacts with FLTP/C1orf192 (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.
    SequenceCaution:
    • Sequence=BAA86546.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for DLG3 Gene

    Alternative splice isoforms for DLG3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DLG3 Gene

Proteomics data for DLG3 Gene at MOPED

Post-translational modifications for DLG3 Gene

  • Ubiquitination at Lys 6
  • Modification sites at PhosphoSitePlus

Other Protein References for DLG3 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for DLG3 (DLG3)

No data available for DME Specific Peptides for DLG3 Gene

Domains & Families for DLG3 Gene

Graphical View of Domain Structure for InterPro Entry

Q92796

UniProtKB/Swiss-Prot:

DLG3_HUMAN :
  • Contains 1 guanylate kinase-like domain.
  • Belongs to the MAGUK family.
Domain:
  • Contains 1 guanylate kinase-like domain.
  • Contains 3 PDZ (DHR) domains.
  • Contains 1 SH3 domain.
Family:
  • Belongs to the MAGUK family.
genes like me logo Genes that share domains with DLG3: view

Function for DLG3 Gene

Molecular function for DLG3 Gene

GENATLAS Biochemistry:
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
UniProtKB/Swiss-Prot Function:
Required for learning most likely through its role in synaptic plasticity following NMDA receptor signaling.

Gene Ontology (GO) - Molecular Function for DLG3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008022 protein C-terminus binding IEA --
GO:0019902 phosphatase binding IDA 19389623
GO:0019904 protein domain specific binding IEA --
GO:0031625 ubiquitin protein ligase binding IEA --
genes like me logo Genes that share ontologies with DLG3: view
genes like me logo Genes that share phenotypes with DLG3: view

Human Phenotype Ontology for DLG3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DLG3 Gene

MGI Knock Outs for DLG3:

Animal Model Products

miRNA for DLG3 Gene

miRTarBase miRNAs that target DLG3

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for DLG3 Gene

Localization for DLG3 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DLG3 Gene COMPARTMENTS Subcellular localization image for DLG3 gene
Compartment Confidence
extracellular 5
plasma membrane 5
cytosol 3
nucleus 3
cytoskeleton 2

Gene Ontology (GO) - Cellular Components for DLG3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 22664934
GO:0005911 cell-cell junction IEA --
GO:0032281 AMPA glutamate receptor complex IEA --
GO:0045202 synapse IEA --
GO:0045211 postsynaptic membrane IBA --
genes like me logo Genes that share ontologies with DLG3: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for DLG3 Gene

Pathways & Interactions for DLG3 Gene

genes like me logo Genes that share pathways with DLG3: view

Gene Ontology (GO) - Biological Process for DLG3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001736 establishment of planar polarity IEA --
GO:0010923 negative regulation of phosphatase activity IDA 19389623
GO:0043113 receptor clustering IBA --
GO:0045197 establishment or maintenance of epithelial cell apical/basal polarity IBA --
GO:0046710 GDP metabolic process IBA --
genes like me logo Genes that share ontologies with DLG3: view

No data available for SIGNOR curated interactions for DLG3 Gene

Drugs & Compounds for DLG3 Gene

(3) Drugs for DLG3 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for DLG3 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with DLG3: view

Transcripts for DLG3 Gene

Unigene Clusters for DLG3 Gene

Discs, large homolog 3 (Drosophila):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for DLG3 Gene

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: -
SP6: -
SP7:

ExUns: 24 ^ 25a · 25b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:

Relevant External Links for DLG3 Gene

GeneLoc Exon Structure for
DLG3
ECgene alternative splicing isoforms for
DLG3

Expression for DLG3 Gene

mRNA expression in normal human tissues for DLG3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for DLG3 Gene

This gene is overexpressed in Brain (25.9), Frontal cortex (7.0), and Placenta (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for DLG3 Gene



SOURCE GeneReport for Unigene cluster for DLG3 Gene Hs.721586

genes like me logo Genes that share expression patterns with DLG3: view

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for DLG3 Gene

Orthologs for DLG3 Gene

This gene was present in the common ancestor of animals.

Orthologs for DLG3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia DLG3 35
  • 94.53 (n)
  • 99.51 (a)
DLG3 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DLG3 35
  • 93.88 (n)
  • 98.28 (a)
DLG3 36
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dlg3 35
  • 93.06 (n)
  • 99.27 (a)
Dlg3 16
Dlg3 36
  • 96 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dlg3 35
  • 92.7 (n)
  • 99.39 (a)
oppossum
(Monodelphis domestica)
Mammalia DLG3 36
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 55 (a)
ManyToMany
chimpanzee
(Pan troglodytes)
Mammalia DLG3 36
  • 95 (a)
OneToOne
chicken
(Gallus gallus)
Aves DLG3 35
  • 81.68 (n)
  • 93.7 (a)
DLG3 36
  • 90 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DLG3 36
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.15371 35
zebrafish
(Danio rerio)
Actinopterygii LOC100334525 35
  • 78.82 (n)
  • 89.87 (a)
dlg3 36
  • 84 (a)
OneToMany
dlg3 36
  • 84 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta dlg1 37
  • 57 (a)
dlg1 36
  • 28 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea dlg-1 37
  • 45 (a)
dlg-1 36
  • 35 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5033 36
  • 51 (a)
OneToMany
Species with no ortholog for DLG3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DLG3 Gene

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

Paralogs for DLG3 Gene

Paralogs for DLG3 Gene

(15) SIMAP similar genes for DLG3 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with DLG3: view

Variants for DLG3 Gene

Sequence variations from dbSNP and Humsavar for DLG3 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
VAR_036591 A colorectal cancer sample
rs1044422 -- 70,504,244(+) CAACC(A/G)TGCTC utr-variant-3-prime
rs1325084 -- 70,502,289(-) CAAGA(A/G)AATGG utr-variant-3-prime
rs1325085 -- 70,502,064(-) CCCCT(C/T)CACCC intron-variant
rs1886890 -- 70,498,464(+) GAGTA(C/T)TGTAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DLG3 Gene

Variant ID Type Subtype PubMed ID
esv1584074 OTHER Inversion 17803354
esv33082 CNV Loss 17666407

Variation tolerance for DLG3 Gene

Residual Variation Intolerance Score: 10.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.85; 17.76% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DLG3 Gene

HapMap Linkage Disequilibrium report
DLG3
Human Gene Mutation Database (HGMD)
DLG3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DLG3 Gene

Disorders for DLG3 Gene

MalaCards: The human disease database

(12) MalaCards diseases for DLG3 Gene - From: Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
non-syndromic x-linked intellectual disability
  • mrx
partington syndrome
  • x-linked russell-silver syndrome
skin tag
  • cutaneous tag
renpenning syndrome
  • renpenning syndrome 1
jensen syndrome
  • opticoacoustic nerve atrophy with dementia
- elite association - COSMIC cancer census association via MalaCards
Search DLG3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DLG3_HUMAN
  • 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. {ECO:0000269 PubMed:15185169}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for DLG3

Genetic Association Database (GAD)
DLG3
Human Genome Epidemiology (HuGE) Navigator
DLG3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DLG3
genes like me logo Genes that share disorders with DLG3: view

No data available for Genatlas for DLG3 Gene

Publications for DLG3 Gene

  1. Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation. (PMID: 15185169) Tarpey P. … Raymond F.L. (Am. J. Hum. Genet. 2004) 3 4 23 67
  2. A novel mutation in the DLG3 gene encoding the synapse-associated protein 102 (SAP102) causes non-syndromic mental retardation. (PMID: 19795139) Zanni G. … Chelly J. (Neurogenetics 2010) 3 23
  3. DLG3/SAP102 protein expression in malformations of cortical development: a study of human epileptic cortex by tissue microarray. (PMID: 19167192) Qu M. … Smits A. (Epilepsy Res. 2009) 3 23
  4. 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. (PMID: 12576483) Seabold G.K. … Hell J.W. (J. Biol. Chem. 2003) 3 23
  5. 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. (PMID: 12070168) Cai C. … KeinAonen K. (J. Biol. Chem. 2002) 3 23

Products for DLG3 Gene

Sources for DLG3 Gene

Back to Top

Content