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Aliases for DLG4 Gene

Aliases for DLG4 Gene

  • Discs Large MAGUK Scaffold Protein 4 2 3 5
  • Synapse-Associated Protein 90 3 4
  • Discs Large Homolog 4 2 3
  • SAP-90 3 4
  • PSD95 3 4
  • SAP90 3 4
  • Discs, Large Homolog 4 (Drosophila) 2
  • Post-Synaptic Density Protein 95 3
  • Postsynaptic Density Protein 95 4
  • Tax Interaction Protein 15 3
  • Disks 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 MAGUK Scaffold Protein 4) is a Protein Coding gene. Diseases associated with DLG4 include Cerebral Degeneration and Huntington Disease. Among its related pathways are RET signaling and Protein-protein interactions at synapses. GO annotations related to this gene include receptor binding and protein C-terminus binding. An important paralog of this gene is DLG1.

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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DLG4 Gene

Genomics for DLG4 Gene

Regulatory Elements for DLG4 Gene

Enhancers for DLG4 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17G007171 1.2 Ensembl ENCODE 11.5 +46.4 46370 4.2 FOXA2 ZNF133 YBX1 GLI4 ZNF207 KLF7 ZNF548 PAF1 ZNF202 ZNF662 DVL2 NLGN2 NEURL4 SNORD10 ATP1B2 SNORA48 MIR324 ZBTB4 PER1 LOC100996842
GH17G007177 1 ENCODE 11.5 +42.2 42202 1.7 ATF1 ARID4B SIN3A DMAP1 YY1 GLIS2 ZNF143 ZNF263 SP3 SP5 SLC16A11 ACADVL DLG4 SLC16A13 ELP5 CTDNEP1 MIR324 DVL2 PHF23 GABARAP
GH17G007712 0.9 FANTOM5 11.4 -492.3 -492285 0.2 ATF1 MXI1 ZMYM3 CHD4 BMI1 KMT2B YY1 ZNF335 GLIS2 ZNF366 SPEM1 TMEM95 C17orf74 YBX2 DLG4 SLC35G6 CNTROB ELP5 GC17M007714 DNAH2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DLG4 on UCSC Golden Path with GeneCards custom track

Promoters for DLG4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000090827 -250 1001 HDGF CREB3L1 AGO1 ARID4B SIN3A ZNF2 ZNF766 ZNF143 FOS SP3

Genomic Location for DLG4 Gene

7,189,890 bp from pter
7,220,050 bp from pter
30,161 bases
Minus strand

Genomic View for DLG4 Gene

Genes around DLG4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DLG4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    Recommended name:
    Disks large homolog 4
    Protein Accession:
    Secondary Accessions:
    • B7Z1S1
    • G5E939
    • Q92941
    • Q9UKK8

    Protein attributes for DLG4 Gene

    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). Interacts with GPR85 (PubMed:25780553). Interacts with CACNG2 and MPP2 (via the SH3-Guanylate kinase-like sub-module) (By similarity).

    Three dimensional structures from OCA and Proteopedia for DLG4 Gene

    Alternative splice isoforms for DLG4 Gene


neXtProt entry for DLG4 Gene

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

Graphical View of Domain Structure for InterPro Entry



  • The PDZ domain 3 mediates interaction with ADR1B.
  • Belongs to the MAGUK family.
  • 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.
  • 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:0005088 Ras guanyl-nucleotide exchange factor activity TAS --
GO:0005515 protein binding IPI 7477295
GO:0008022 protein C-terminus binding IPI 7477295
GO:0015276 ligand-gated ion channel activity TAS --
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

  • Taconic Biosciences Mouse Models for DLG4

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DLG4 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
cytosol 5
endoplasmic reticulum 4
mitochondrion 3
nucleus 2
extracellular 1
golgi apparatus 1
endosome 1

Gene Ontology (GO) - Cellular Components for DLG4 Gene

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

Pathways & Interactions for DLG4 Gene

SuperPathway Contained pathways
1 RET signaling
2 Post NMDA receptor activation events
3 Presynaptic function of Kainate receptors
4 Transmission across Chemical Synapses
5 Developmental Biology
genes like me logo Genes that share pathways with DLG4: view

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:0002091 negative regulation of receptor internalization ISS --
GO:0006461 protein complex assembly IDA 15496675
GO:0007165 signal transduction TAS 10364559
GO:0007204 positive regulation of cytosolic calcium ion concentration ISS --
genes like me logo Genes that share ontologies with DLG4: view

Drugs & Compounds for DLG4 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanidine Approved Pharma Target 0
Guanosine monophosphate Experimental Pharma Target 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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

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: -
SP6: -

ExUns: 21b ^ 22 ^ 23 ^ 24 ^ 25a · 25b
SP5: -

Relevant External Links for DLG4 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for DLG4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for DLG4 Gene

Protein tissue co-expression partners for DLG4 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DLG4 Gene:


SOURCE GeneReport for Unigene cluster for DLG4 Gene:


mRNA Expression by UniProt/SwissProt for DLG4 Gene:

Tissue specificity: Brain.

Evidence on tissue expression from TISSUES for DLG4 Gene

  • Nervous system(4.9)
  • Eye(2.6)
  • Kidney(2)
genes like me logo Genes that share expression patterns with DLG4: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for DLG4 Gene

Orthologs for DLG4 Gene

This gene was present in the common ancestor of animals.

Orthologs for DLG4 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia DLG4 34 35
  • 99.61 (n)
(Ornithorhynchus anatinus)
Mammalia DLG4 35
  • 97 (a)
(Bos Taurus)
Mammalia DLG4 34 35
  • 94.48 (n)
(Rattus norvegicus)
Mammalia Dlg4 34
  • 93.58 (n)
(Mus musculus)
Mammalia Dlg4 34 16 35
  • 93.16 (n)
(Canis familiaris)
Mammalia DLG4 34 35
  • 92.68 (n)
(Monodelphis domestica)
Mammalia DLG4 35
  • 84 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.31985 34
(Danio rerio)
Actinopterygii DLG4 (2 of 2) 35
  • 83 (a)
dlg4b 35
  • 80 (a)
dlg4 34
  • 72.42 (n)
fruit fly
(Drosophila melanogaster)
Insecta dlg1 36 35
  • 52 (a)
(Caenorhabditis elegans)
Secernentea dlg-1 36 35
  • 42 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5033 35
  • 50 (a)
Species where no ortholog for DLG4 was found in the sources mined by GeneCards:
  • 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

Gene Tree for DLG4 (if available)
Gene Tree for DLG4 (if available)

Paralogs for DLG4 Gene

Variants for DLG4 Gene

Sequence variations from dbSNP and Humsavar for DLG4 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs1057518506 Pathogenic 7,220,804(+) AGCTG(-)TGTCC nc-transcript-variant, upstream-variant-2KB, reference, frameshift-variant
rs28934585 Pathogenic 7,220,519(+) AAAAC(C/T)GGCCA intron-variant, nc-transcript-variant, upstream-variant-2KB, reference, missense, utr-variant-5-prime
rs369560930 Pathogenic 7,221,580(+) TTGGC(A/G/T)TGGGC nc-transcript-variant, upstream-variant-2KB, reference, missense
rs387906249 Pathogenic 7,220,924(+) CCCAG(-/G)AAGTG nc-transcript-variant, upstream-variant-2KB, reference, frameshift-variant
rs387906250 Pathogenic 7,220,923(+) CCCCA(-/G)GAAGT upstream-variant-2KB, splice-acceptor-variant

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

Variant ID Type Subtype PubMed ID
esv2422288 CNV deletion 17116639
esv2665200 CNV deletion 23128226
esv2715598 CNV deletion 23290073
esv2715599 CNV deletion 23290073
esv3639861 CNV loss 21293372
nsv1071329 CNV deletion 25765185
nsv1143846 CNV deletion 24896259
nsv1144788 CNV deletion 24896259
nsv1962 CNV insertion 18451855
nsv457659 CNV loss 19166990
nsv574322 CNV loss 21841781
nsv952118 CNV deletion 24416366

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

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for DLG4 Gene

MalaCards: The human disease database

(5) MalaCards diseases for DLG4 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cerebral degeneration
  • brain degeneration
huntington disease
  • congenital anomalies of kidney and urinary tract 2
usher syndrome, type 1c
  • usher syndrome type 1c
autism spectrum disorder
  • pervasive development disorder
  • schizophrenia 12
- elite association - COSMIC cancer census association via MalaCards
Search DLG4 in MalaCards View complete list of genes associated with diseases

Relevant External Links for DLG4

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 3 4 22 64
  2. Association study of polymorphisms in post-synaptic density protein 95 (PSD-95) with schizophrenia. (PMID: 17093888) Tsai S.J. … Liou Y.J. (J Neural Transm 2007) 3 22 46 64
  3. The PDZ1 domain of SAP90. Characterization of structure and binding. (PMID: 11744724) Piserchio A. … Mierke D.F. (J. Biol. Chem. 2002) 3 4 22 64
  4. GAKIN, a novel kinesin-like protein associates with the human homologue of the Drosophila discs large tumor suppressor in T lymphocytes. (PMID: 10859302) Hanada T. … Chishti A.H. (J. Biol. Chem. 2000) 3 4 22 64
  5. Clustering of Shaker-type K+ channels by interaction with a family of membrane-associated guanylate kinases. (PMID: 7477295) Kim E. … Sheng M. (Nature 1995) 3 4 22 64

Products for DLG4 Gene

  • Addgene plasmids for DLG4

Sources for DLG4 Gene

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