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Aliases for DLG4 Gene

Aliases for DLG4 Gene

  • Discs, Large Homolog 4 (Drosophila) 2 3
  • Postsynaptic Density Protein 95 3 4
  • Synapse-Associated Protein 90 3 4
  • SAP-90 3 4
  • PSD95 3 4
  • SAP90 3 4
  • Post-Synaptic Density Protein 95 3
  • Tax Interaction Protein 15 3
  • Discs Large Homolog 4 3
  • PSD-95 4

External Ids for DLG4 Gene

Previous GeneCards Identifiers for DLG4 Gene

  • GC17M007484
  • GC17M007822
  • GC17M007036
  • GC17M007293
  • GC17M007033
  • GC17M006984
  • GC17M007094

Summaries for DLG4 Gene

Entrez Gene Summary for DLG4 Gene

  • This gene encodes a member of the membrane-associated guanylate kinase (MAGUK) family. It heteromultimerizes with another MAGUK protein, DLG2, and is recruited into NMDA receptor and potassium channel clusters. These two MAGUK proteins may interact at postsynaptic sites to form a multimeric scaffold for the clustering of receptors, ion channels, and associated signaling proteins. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for DLG4 Gene

DLG4 (Discs, Large Homolog 4 (Drosophila)) is a Protein Coding gene. Diseases associated with DLG4 include trichotillomania and autism spectrum disorder. Among its related pathways are Immune System and Signaling by GPCR. GO annotations related to this gene include receptor binding and protein C-terminus binding. An important paralog of this gene is MPP6.

UniProtKB/Swiss-Prot for DLG4 Gene

  • Interacts with the cytoplasmic tail of NMDA receptor subunits and shaker-type potassium channels. Required for synaptic plasticity associated with NMDA receptor signaling. Overexpression or depletion of DLG4 changes the ratio of excitatory to inhibitory synapses in hippocampal neurons. May reduce the amplitude of ASIC3 acid-evoked currents by retaining the channel intracellularly. May regulate the intracellular trafficking of ADR1B (By similarity).

Gene Wiki entry for DLG4 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DLG4 Gene

Genomics for DLG4 Gene

Regulatory Elements for DLG4 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for DLG4 Gene

Chromosome:
17
Start:
7,189,890 bp from pter
End:
7,220,050 bp from pter
Size:
30,161 bases
Orientation:
Minus strand

Genomic View for DLG4 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for DLG4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DLG4 Gene

Proteins for DLG4 Gene

  • Protein details for DLG4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P78352-DLG4_HUMAN
    Recommended name:
    Disks large homolog 4
    Protein Accession:
    P78352
    Secondary Accessions:
    • B7Z1S1
    • G5E939
    • Q92941
    • Q9UKK8

    Protein attributes for DLG4 Gene

    Size:
    724 amino acids
    Molecular mass:
    80495 Da
    Quaternary structure:
    • Interacts through its PDZ domains with ANO2 and NETO1. Interacts through its first two PDZ domains with GRIN2A, GRIN2B, GRIN2C, GRIN2D, ASIC3, certain splice forms of GRIN1, KCND2, CXADR, SYNGAP1, KCNA1, KCNA2, KCNA3, KCNA4, ERBB4, LRRC4; LRRC4B and SEMA4C. Interacts through its first PDZ domain with GRIK2, KCNA4 and CRIPT. Interacts through its second PDZ domain with the PDZ domain of NOS1 or the C-terminus of CAPON. Interacts through its third PDZ domain with NLGN1 and CRIPT, and probably with NLGN2 and NLGN3. Interacts through its guanylate kinase-like domain with DLGAP1/GKAP, DLGAP2, DLGAP3, DLGAP4, MAP1A, BEGAIN, SIPA1L1 and KIF13B. Isoform 2 interacts through an L27 domain with HGS/HRS and the first L27 domain of CASK. Interacts with ADR1B, ANKS1B and PRR7. May interact with HTR2A. Interacts with ADAM22, KLHL17 and LGI1. Interacts with FRMPD4 (via C-terminus). Interacts with LRFN1, LRFN2 and LRFN4, but not with LRFN3 nor LRFN5. Interacts (via N-terminal tandem pair of PDZ domains) with GPER1 (via C-terminus tail motif); the interaction is direct and induces the increase of GPER1 protein levels residing at the plasma membrane surface in a estradiol-independent manner. Interacts (via N-terminus tandem pair of PDZ domains) with NOS1 (via N-terminal domain). Interacts with SHANK3. Interacts with KCNJ4 (By similarity).

    Three dimensional structures from OCA and Proteopedia for DLG4 Gene

    Alternative splice isoforms for DLG4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DLG4 Gene

Proteomics data for DLG4 Gene at MOPED

Post-translational modifications for DLG4 Gene

  • Palmitoylation of isoform 1 is required for targeting to postsynaptic density.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for DLG4 (PSD-95)

No data available for DME Specific Peptides for DLG4 Gene

Domains & Families for DLG4 Gene

Gene Families for DLG4 Gene

Graphical View of Domain Structure for InterPro Entry

P78352

UniProtKB/Swiss-Prot:

DLG4_HUMAN :
  • The PDZ domain 3 mediates interaction with ADR1B
  • Belongs to the MAGUK family.
Domain:
  • The PDZ domain 3 mediates interaction with ADR1B
  • The L27 domain near the N-terminus of isoform 2 is required for HGS/HRS-dependent targeting to postsynaptic density
  • 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 DLG4: view

Function for DLG4 Gene

Molecular function for DLG4 Gene

GENATLAS Biochemistry:
Drosophila tumor suppressor gene,discs large (Dlg) homolog 4,expressed in neuronal and nonneuronal tissues at postsynaptic sites,heterodimerizing with DLG2,recruited into the same NMDA receptor and Shaker-type potassium channel clusters
UniProtKB/Swiss-Prot Function:
Interacts with the cytoplasmic tail of NMDA receptor subunits and shaker-type potassium channels. Required for synaptic plasticity associated with NMDA receptor signaling. Overexpression or depletion of DLG4 changes the ratio of excitatory to inhibitory synapses in hippocampal neurons. May reduce the amplitude of ASIC3 acid-evoked currents by retaining the channel intracellularly. May regulate the intracellular trafficking of ADR1B (By similarity).

Gene Ontology (GO) - Molecular Function for DLG4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004385 guanylate kinase activity IBA --
GO:0005515 protein binding IPI 7477295
GO:0008022 protein C-terminus binding IPI 7477295
GO:0019900 kinase binding IDA 21119615
GO:0019903 protein phosphatase binding ISS --
genes like me logo Genes that share ontologies with DLG4: view
genes like me logo Genes that share phenotypes with DLG4: view

Animal Models for DLG4 Gene

MGI Knock Outs for DLG4:

Animal Model Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for DLG4

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for DLG4 Gene

Localization for DLG4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DLG4 Gene

Cell membrane; Peripheral membrane protein. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density. Cell projection, axon. Cell junction, synapse. Note=High levels in postsynaptic density of neurons in the forebrain. Also in presynaptic region of inhibitory synapses formed by cerebellar basket cells on axon hillocks of Purkinje cells.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DLG4 Gene COMPARTMENTS Subcellular localization image for DLG4 gene
Compartment Confidence
cytoskeleton 5
plasma membrane 5
cytosol 3
endoplasmic reticulum 3
extracellular 1
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for DLG4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm ISS --
GO:0005783 endoplasmic reticulum ISS --
GO:0005829 cytosol ISS --
GO:0005886 plasma membrane TAS --
GO:0008021 synaptic vesicle ISS --
genes like me logo Genes that share ontologies with DLG4: view

Pathways & Interactions for DLG4 Gene

SuperPathways for DLG4 Gene

Superpath Contained pathways
1 Interleukin receptor SHC signaling
2 Post NMDA receptor activation events
3 Transmission across Chemical Synapses
4 Presynaptic function of Kainate receptors
5 Immune System
genes like me logo Genes that share pathways with DLG4: view

Pathways by source for DLG4 Gene

1 Cell Signaling Technology pathway for DLG4 Gene
2 BioSystems pathways for DLG4 Gene

PCR Array Products

SIGNOR curated interactions for DLG4 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for DLG4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade TAS --
GO:0000186 activation of MAPKK activity TAS --
GO:0002091 negative regulation of receptor internalization ISS --
GO:0006461 protein complex assembly IDA 15496675
GO:0007165 signal transduction TAS 10364559
genes like me logo Genes that share ontologies with DLG4: view

Drugs & Compounds for DLG4 Gene

(13) Drugs for DLG4 Gene - From: NovoSeek, HMDB, and DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanidine Approved Pharma Target 0
Dopamine Approved Pharma Full agonist, Agonist 2814
Nitric Oxide Approved Pharma 540
Guanosine monophosphate Experimental Pharma Target 0
Potassium Experimental Pharma 0

(8) Additional Compounds for DLG4 Gene - From: NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
2-Bromopalmitate
Acyl-CoA
Fatty acid
gaba
56-12-2
glutamate
genes like me logo Genes that share compounds with DLG4: view

Transcripts for DLG4 Gene

Unigene Clusters for DLG4 Gene

Discs, large homolog 4 (Drosophila):
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for DLG4

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for DLG4 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21a ·
SP1: - - - - - -
SP2: - - - -
SP3: - - -
SP4: -
SP5:
SP6: -

ExUns: 21b ^ 22 ^ 23 ^ 24 ^ 25a · 25b
SP1:
SP2:
SP3:
SP4:
SP5: -
SP6:

Relevant External Links for DLG4 Gene

GeneLoc Exon Structure for
DLG4
ECgene alternative splicing isoforms for
DLG4

Expression for DLG4 Gene

mRNA expression in normal human tissues for DLG4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DLG4 Gene

This gene is overexpressed in Brain - Cortex (x4.7), Brain - Nucleus accumbens (basal ganglia) (x4.3), Brain - Anterior cingulate cortex (BA24) (x4.2), and Brain - Frontal Cortex (BA9) (x4.1).

Protein differential expression in normal tissues from HIPED for DLG4 Gene

This gene is overexpressed in Brain (31.4), Frontal cortex (26.2), and Retina (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for DLG4 Gene



SOURCE GeneReport for Unigene cluster for DLG4 Gene Hs.463928

mRNA Expression by UniProt/SwissProt for DLG4 Gene

P78352-DLG4_HUMAN
Tissue specificity: Brain
genes like me logo Genes that share expression patterns with DLG4: view

Protein tissue co-expression partners for DLG4 Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for DLG4 Gene

This gene was present in the common ancestor of animals.

Orthologs for DLG4 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia DLG4 35
  • 94.48 (n)
  • 99.44 (a)
DLG4 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DLG4 35
  • 92.68 (n)
  • 98.71 (a)
DLG4 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dlg4 35
  • 93.16 (n)
  • 99.3 (a)
Dlg4 16
Dlg4 36
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia DLG4 35
  • 99.61 (n)
  • 99.48 (a)
DLG4 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dlg4 35
  • 93.58 (n)
  • 99.58 (a)
oppossum
(Monodelphis domestica)
Mammalia DLG4 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DLG4 36
  • 97 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.31985 35
zebrafish
(Danio rerio)
Actinopterygii dlg4 35
  • 72.42 (n)
  • 81.54 (a)
DLG4 (2 of 2) 36
  • 83 (a)
OneToMany
dlg4b 36
  • 80 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta dlg1 37
  • 52 (a)
dlg1 36
  • 28 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea dlg-1 37
  • 42 (a)
dlg-1 36
  • 35 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5033 36
  • 50 (a)
OneToMany
Species with no ortholog for DLG4:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • lizard (Anolis carolinensis)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for DLG4 Gene

ENSEMBL:
Gene Tree for DLG4 (if available)
TreeFam:
Gene Tree for DLG4 (if available)

Paralogs for DLG4 Gene

Paralogs for DLG4 Gene

genes like me logo Genes that share paralogs with DLG4: view

Variants for DLG4 Gene

Sequence variations from dbSNP and Humsavar for DLG4 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs13331 -- 7,190,147(-) CCACA(C/T)GCCCC utr-variant-3-prime, downstream-variant-500B
rs125651 -- 7,209,903(+) TGGGC(A/G)TGGTG intron-variant, upstream-variant-2KB
rs178471 -- 7,208,305(+) CGCCC(C/T)GGCCG intron-variant, upstream-variant-2KB
rs188776 -- 7,190,221(-) TTTCC(A/C)CTTTT utr-variant-3-prime, downstream-variant-500B
rs222853 -- 7,210,661(-) GATAG(C/T)GGAGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DLG4 Gene

Variant ID Type Subtype PubMed ID
esv2422288 CNV Deletion 17116639
nsv457659 CNV Loss 19166990
esv2665200 CNV Deletion 23128226
dgv3053n71 CNV Loss 21882294
nsv907637 CNV Loss 21882294
nsv1962 CNV Insertion 18451855
esv2715598 CNV Deletion 23290073
esv2715599 CNV Deletion 23290073

Variation tolerance for DLG4 Gene

Residual Variation Intolerance Score: 6.06% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.45; 28.41% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DLG4 Gene

HapMap Linkage Disequilibrium report
DLG4
Human Gene Mutation Database (HGMD)
DLG4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DLG4 Gene

Disorders for DLG4 Gene

MalaCards: The human disease database

(4) MalaCards diseases for DLG4 Gene - From: DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
trichotillomania
  • hair-pulling syndrome
autism spectrum disorder
  • autism spectrum disorders
schizophrenia
  • schizophrenia 12
alzheimer disease
  • alzheimer disease, late-onset
- elite association
Search DLG4 in MalaCards View complete list of genes associated with diseases

Relevant External Links for DLG4

Genetic Association Database (GAD)
DLG4
Human Genome Epidemiology (HuGE) Navigator
DLG4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DLG4
genes like me logo Genes that share disorders with DLG4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DLG4 Gene

Publications for DLG4 Gene

  1. Human postsynaptic density-95 (PSD95): location of the gene (DLG4) and possible function in nonneural as well as in neural tissues. (PMID: 9286702) Stathakis D.G. … Bryant P.J. (Genomics 1997) 2 23 67
  2. Increased stress-evoked nitric oxide signalling in the Flinders sensitive line (FSL) rat: a genetic animal model of depression. (PMID: 19627650) Wegener G. … Elfving B. (Int. J. Neuropsychopharmacol. 2010) 23 67
  3. SAP102 is a highly mobile MAGUK in spines. (PMID: 20357126) Zheng C.Y. … Wenthold R.J. (J. Neurosci. 2010) 23 67
  4. Identification of a small-molecule inhibitor of the PICK1 PDZ domain that inhibits hippocampal LTP and LTD. (PMID: 20018661) Thorsen T.S. … Gether U. (Proc. Natl. Acad. Sci. U.S.A. 2010) 23 67
  5. Expression of the NR2B-NMDA receptor subunit and its Tbr-1/CINAP regulatory proteins in postmortem brain suggest altered receptor processing in schizophrenia. (PMID: 20175224) Kristiansen L.V. … Meador-Woodruff J.H. (Synapse 2010) 23 67

Products for DLG4 Gene

Sources for DLG4 Gene

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