DLG4 Gene (Protein Coding)

Discs Large MAGUK Scaffold Protein 4

GC17M007189
GIFtS:
48
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 protein... See more...

Aliases for DLG4 Gene

Aliases for DLG4 Gene

  • Discs Large MAGUK Scaffold Protein 4 2 3 5
  • SAP-90 2 3 4
  • PSD95 2 3 4
  • SAP90 2 3 4
  • Synapse-Associated Protein 90 3 4
  • Discs Large Homolog 4 2 3
  • Disks Large Homolog 4 3 4
  • PSD-95 2 4
  • Discs, Large Homolog 4 (Drosophila) 2
  • Post-Synaptic Density Protein 95 3
  • Postsynaptic Density Protein 95 4
  • Tax Interaction Protein 15 3
  • MRD62 3
  • DLG4 5

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 Intellectual Developmental Disorder, Autosomal Dominant 62 and Encephalopathy, Progressive, Early-Onset, With Episodic Rhabdomyolysis. Among its related pathways are RET signaling and L1CAM interactions. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and protein C-terminus binding. An important paralog of this gene is DLG1.

UniProtKB/Swiss-Prot Summary for DLG4 Gene

  • Postsynaptic scaffolding protein that plays a critical role in synaptogenesis and synaptic plasticity by providing a platform for the postsynaptic clustering of crucial synaptic proteins. 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. Also regulates AMPA-type glutamate receptor (AMPAR) immobilization at postsynaptic density keeping the channels in an activated state in the presence of glutamate and preventing synaptic depression.

Gene Wiki entry for DLG4 Gene

Additional gene information for DLG4 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DLG4 Gene

Genomics for DLG4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for DLG4 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH17J007211 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 259.4 +2.7 2720 13.3 BCLAF1 SP1 ZNF207 ZNF654 MYC ZNF600 IKZF1 SIX5 JUND ZNF580 DLG4 ACADVL ELP5 CLDN7 LOC100996842 SLC35G6 EIF5A KCNAB3 WRAP53 EFNB3
GH17J007192 Promoter 0.6 EPDnew 250.3 +27.7 27716 0.1 ZNF366 NFXL1 ZNF444 ENSG00000279812 lnc-DLG4-1 DLG4 ASGR1 ACADVL
GH17J007833 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11 -619.6 -619592 13.5 BCLAF1 SP1 ZNF207 MYC ZNF654 NCOR1 ZNF600 IKZF1 SSRP1 JUND KDM6B CHD3 lnc-NAA38-5 lnc-KDM6B-1 DVL2 PFAS CTC1 CNTROB WRAP53 POLR2A
GH17J007293 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE 11.2 -75.1 -75076 3.9 BCLAF1 ZNF654 MYC ZNF600 ZNF592 ZNF10 POLR2A NFIC ZIC2 ZBTB10 YBX2 HSALNG0114286 HSALNG0114287 lnc-GPS2-3 piR-56101-002 ATP1B2 EIF5A NLGN2 VAMP2 DLG4
GH17J007176 Promoter/Enhancer 1.6 Ensembl ENCODE CraniofacialAtlas 11.5 +42.5 42549 2.6 ZNF654 ZNF600 ATF2 ATF3 POLR2A NFIC ZIC2 ZBTB10 YY1 MXD4 lnc-DLG4-2 DVL2 CNTROB WRAP53 POLR2A CYB5D1 SNORD10 SNORA48 MIR324 ELP5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DLG4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DLG4

Top Transcription factor binding sites by QIAGEN in the DLG4 gene promoter:
  • AP-2alpha
  • AP-2alpha isoform 2

Genomic Locations for DLG4 Gene

Latest Assembly
chr17:7,187,187-7,220,050
(GRCh38/hg38)
Size:
32,864 bases
Orientation:
Minus strand

Previous Assembly
chr17:7,090,506-7,123,369
(GRCh37/hg19 by Entrez Gene)
Size:
32,864 bases
Orientation:
Minus strand

chr17:7,093,209-7,123,021
(GRCh37/hg19 by Ensembl)
Size:
29,813 bases
Orientation:
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 Structure • Gene Density

RefSeq DNA sequence for DLG4 Gene

Proteins for DLG4 Gene

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  • 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 (By similarity). Interacts through its first two PDZ domains with GRIN2A, GRIN2B, GRIN2C, GRIN2D (By similarity). Interacts with ASIC3 (By similarity). Interacts with SEMA4C (By similarity). Interacts with CXADR (By similarity). Interacts with KCND2 (By similarity). Interacts with SYNGAP1 (By similarity). Interacts with LRRC4 and LRRC4B (By similarity). Interacts with ERBB4 (PubMed:10725395). Interacts with KCNA1, KCNA2, KCNA3 and KCNA4 (PubMed:7477295). Interacts through its first PDZ domain with GRIK2, KCNA4 and CRIPT (PubMed:11744724). Interacts through its second PDZ domain with the PDZ domain of NOS1 or the C-terminus of CAPON (By similarity). Interacts through its third PDZ domain with NLGN1 and CRIPT, and probably with NLGN2 and NLGN3 (PubMed:9278515). Interacts through its guanylate kinase-like domain with KIF13B (PubMed:10859302). Interacts through its guanylate kinase-like domain with DLGAP1/GKAP, DLGAP2, DLGAP3, DLGAP4, MAP1A, BEGAIN and SIPA1L1 (By similarity). Isoform 2 interacts through an L27 domain with HGS/HRS and the first L27 domain of CASK (PubMed:12151521). Interacts with ADR1B and ANKS1B (By similarity). May interact with HTR2A (By similarity). Interacts with ADAM22 (PubMed:27066583). Interacts with KLHL17 and LGI1 (By similarity). Interacts with FRMPD4 (via C-terminus) (PubMed:19118189). Interacts with LRFN1, LRFN2 and LRFN4 (PubMed:16630835). 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 (By similarity). Interacts (via N-terminus tandem pair of PDZ domains) with NOS1 (via N-terminal domain) (By similarity). Interacts with SHANK3 (By similarity). 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). Interacts with ADGRB1 (PubMed:23782696). Found in a complex with PRR7 and GRIN1 (By similarity). Interacts (via PDZ3 domain and to lesser degree via PDZ2 domain) with PRR7 (By similarity). Component of the postsynaptic hippocampal AMPA-type glutamate receptor (AMPAR) complex, at least composed of pore forming AMPAR subunits GRIA1, GRIA2 and GRIA3 and AMPAR auxiliary proteins SHISA6 and SHISA7. Interacts (via its first two PDZ domains) with SHISA6 and SHISA7 (via PDZ-binding motif); the interaction is direct (By similarity). Interacts with RPH3A and GRIN2A; this ternary complex regulates NMDA receptor composition at postsynaptic membranes (By similarity). Interacts with ABR and BCR (PubMed:20962234). Interacts with DGKI (via PDZ-binding motif); controls the localization of DGKI to the synapse (PubMed:21119615).

    Three dimensional structures from OCA and Proteopedia for DLG4 Gene

    Alternative splice isoforms for DLG4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DLG4 Gene

Protein Expression for DLG4 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for DLG4 Gene

  • Palmitoylated (PubMed:26701913). Palmitoylation is required for targeting to postsynaptic density, plasma membrane and synapses (By similarity). Palmitoylation by ZDHHC2 occurs when the synaptic activity decreases and induces DLG4 synaptic clustering (By similarity). Palmitoylation by ZDHHC15 regulates trafficking to the postsynaptic density and function in synaptogenesis (By similarity). Palmitoylation may play a role in glutamate receptor GRIA1 synapse clustering (By similarity). Depalmitoylated by ABHD17A and ABHD17B and to a lesser extent by ABHD17C, ABHD12, ABHD13, LYPLA1 and LYPLA2 (PubMed:26701913). Undergoes rapid synaptic palmitoylation/depalmitoylation cycles during neuronal development which slow down in mature neurons (By similarity).
  • Ubiquitinated by MDM2 in response to NMDA receptor activation, leading to proteasome-mediated degradation of DLG4 which is required for AMPA receptor endocytosis.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DLG4 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Abcam antibodies for DLG4

No data available for DME Specific Peptides for DLG4 Gene

Domains & Families for DLG4 Gene

Gene Families for DLG4 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transporters

Protein Domains for DLG4 Gene

InterPro:
Blocks:
  • SH3 domain signature
  • PDZ/DHR/GLGF domain
  • Guanylate kinase

Suggested Antigen Peptide Sequences for DLG4 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ60612, highly similar to Discs large homolog 4 (B7Z3U2_HUMAN)
  • cDNA, FLJ78995, highly similar to Discs large homolog 4 (B7Z647_HUMAN)
  • Discs, large homolog 4 (Drosophila), isoform CRA_c (B9EGL1_HUMAN)
  • Synapse-associated protein 90 (DLG4_HUMAN)
  • Tax interaction protein 15 (O14909_HUMAN)

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.
Family:
  • Belongs to the MAGUK family.
genes like me logo Genes that share domains with DLG4: view

Function for DLG4 Gene

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  1. Animal Models for research
  2. CRISPR products for research
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  6. Cell Lines for research

Molecular function for DLG4 Gene

UniProtKB/Swiss-Prot Function:
Postsynaptic scaffolding protein that plays a critical role in synaptogenesis and synaptic plasticity by providing a platform for the postsynaptic clustering of crucial synaptic proteins. 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. Also regulates AMPA-type glutamate receptor (AMPAR) immobilization at postsynaptic density keeping the channels in an activated state in the presence of glutamate and preventing synaptic depression.
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

Phenotypes From GWAS Catalog for DLG4 Gene

Gene Ontology (GO) - Molecular Function for DLG4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 7477295
GO:0008022 protein C-terminus binding IPI 7477295
GO:0019900 kinase binding IDA 21119615
GO:0019903 protein phosphatase binding ISS --
GO:0030165 PDZ domain binding ISS --
genes like me logo Genes that share ontologies with DLG4: view
genes like me logo Genes that share phenotypes with DLG4: view

Human Phenotype Ontology for DLG4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DLG4 Gene

MGI Knock Outs for DLG4:
  • Dlg4 Dlg4<tm1.1Tdoi>
  • Dlg4 Dlg4<tm1Grnt>
  • Dlg4 Dlg4<tm1Rlh>
  • Dlg4 Dlg4<tm2.1Grnt>
  • Dlg4 Dlg4<tm1e(EUCOMM)Wtsi>

Animal Models for research

  • Taconic Biosciences Mouse Models for DLG4

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DLG4

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. Lipid-anchor. Cytoplasmic side. Cell junction, synapse, postsynaptic density. Cell junction, synapse. Cytoplasm. Cell projection, axon. Cell projection, dendritic spine. Cell projection, dendrite. Cell junction, synapse, presynapse. 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. Suppression of neuronal activity induces synaptic accumulation and clustering of DLG4. {ECO:0000250 UniProtKB:P31016}.

Subcellular locations from

COMPARTMENTS
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
extracellular 3
mitochondrion 3
nucleus 3
endosome 2
lysosome 2
golgi apparatus 2
peroxisome 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 IEA,ISS --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane ISS,TAS --
GO:0008021 synaptic vesicle IEA,ISS --
genes like me logo Genes that share ontologies with DLG4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DLG4 Gene

Pathways & Interactions for DLG4 Gene

PathCards logo

SuperPathways for DLG4 Gene

SuperPathway Contained pathways
1 RET signaling
Frs2-mediated activation
.95
GRB2 events in EGFR signaling
.95
MAPK1/MAPK3 signaling
.95
Prolonged ERK activation events
.95
RAF/MAP kinase cascade
.95
SHC1 events in EGFR signaling
.95
Signaling by Leptin
.95
SOS-mediated signalling
.95
VEGFR2 mediated cell proliferation
.95
ARMS-mediated activation
.95
Signalling to ERKs
.95
Signalling to p38 via RIT and RIN
.95
Signalling to RAS
.95
Interleukin receptor SHC signaling
.95
Interleukin-3, 5 and GM-CSF signaling
.94
Interleukin-2 signaling
.94
Downstream signal transduction
.94
Signaling by PDGF
.94
DAP12 signaling
.92
RET signaling
.92
Insulin receptor signalling cascade
.92
Signaling by Insulin receptor
.92
IRS-mediated signalling
.91
Signaling by EGFR
.90
FCERI mediated MAPK activation
.90
IGF1R signaling cascade
.90
IRS-related events triggered by IGF1R
.90
Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)
.90
DAP12 interactions
.89
NCAM signaling for neurite out-growth
.89
NGF signalling via TRKA from the plasma membrane
.87
MAPK family signaling cascades
.87
Signaling by SCF-KIT
.85
Signalling by NGF
.81
Fc epsilon receptor (FCERI) signaling
.79
VEGFA-VEGFR2 Pathway
.78
Signaling by VEGF
.76
Gastrin-CREB signalling pathway via PKC and MAPK
.55
2 Post NMDA receptor activation events
Activation of NMDA receptor upon glutamate binding and postsynaptic events
.90
Post NMDA receptor activation events
.90
CREB phosphorylation through the activation of Ras
.78
CREB phosphorylation through the activation of CaMKII
.01
Ras activation uopn Ca2+ infux through NMDA receptor
.01
Unblocking of NMDA receptor, glutamate binding and activation
.01
3 Presynaptic function of Kainate receptors
Activation of Kainate Receptors upon glutamate binding
.66
Activation of Ca-permeable Kainate Receptor
.38
Ionotropic activity of Kainate Receptors
.01
4 Transmission across Chemical Synapses
Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell
.67
Transmission across Chemical Synapses
.67
Neuronal System
.62
5 Pathways of neurodegeneration - multiple diseases
Pathways of neurodegeneration - multiple diseases
.65
Huntington disease
.50
genes like me logo Genes that share pathways with DLG4: view

Pathways by source for DLG4 Gene

2 BioSystems pathways for DLG4 Gene
2 Qiagen pathways for DLG4 Gene
  • Huntington's Disease Pathway
  • nNOS Signaling at Neuronal Synapses
1 Cell Signaling Technology pathway for DLG4 Gene

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:0007165 signal transduction TAS 10364559
GO:0007204 positive regulation of cytosolic calcium ion concentration ISS --
GO:0007268 chemical synaptic transmission TAS,IBA 21873635
genes like me logo Genes that share ontologies with DLG4: view

Drugs & Compounds for DLG4 Gene

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(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

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mRNA/cDNA for DLG4 Gene

7 REFSEQ mRNAs :
20 NCBI additional mRNA sequence :
24 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DLG4

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

Expression for DLG4 Gene

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

mRNA expression in normal human tissues for DLG4 Gene
mRNA expression by GTEx for DLG4 GenemRNA expression by BioGPS 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DLG4

SOURCE GeneReport for Unigene cluster for DLG4 Gene:

Hs.463928

mRNA Expression by UniProt/SwissProt for DLG4 Gene:

P78352-DLG4_HUMAN
Tissue specificity: Brain.

Evidence on tissue expression from TISSUES for DLG4 Gene

  • Nervous system(4.9)
  • Eye(3)
  • Skin(2.6)
  • Adrenal gland(2.6)
  • Kidney(2.5)
  • Blood(2.4)
  • Muscle(2.4)
  • Heart(2.3)
  • Intestine(2.1)
genes like me logo Genes that share expression patterns with DLG4: view

Primer products for research

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
Chimpanzee
(Pan troglodytes)
 Mammalia DLG4 29 30
  • 99.61 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia DLG4 30
  • 97 (a)
 OneToOne
Cow
(Bos Taurus)
 Mammalia DLG4 29 30
  • 94.48 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Dlg4 29
  • 93.58 (n)
Mouse
(Mus musculus)
 Mammalia Dlg4 29 16 30
  • 93.16 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia DLG4 29 30
  • 92.68 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia DLG4 30
  • 84 (a)
 OneToOne
African clawed frog
(Xenopus laevis)
 Amphibia Xl.31985 29
Zebrafish
(Danio rerio)
 Actinopterygii DLG4 (2 of 2) 30
  • 83 (a)
 OneToMany
dlg4b 30
  • 80 (a)
 OneToMany
dlg4 29
  • 72.42 (n)
Fruit Fly
(Drosophila melanogaster)
 Insecta dlg1 30 31
  • 28 (a)
 OneToMany
Worm
(Caenorhabditis elegans)
 Secernentea dlg-1 30 31
  • 35 (a)
 OneToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.5033 30
  • 50 (a)
 OneToMany
Species where no ortholog for DLG4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for DLG4: view image
Alliance of Genome Resources:
Additional Orthologs for DLG4

Paralogs for DLG4 Gene

Paralogs for DLG4 Gene

(55) SIMAP similar genes for DLG4 Gene using alignment to 10 proteins:

  • DLG4_HUMAN
  • B7Z647_HUMAN
  • B9EGL1_HUMAN
  • C9JWP9_HUMAN
  • C9JYG3_HUMAN
  • K7EKP9_HUMAN
  • K7EKU8_HUMAN
  • K7EQM6_HUMAN
  • O14909_HUMAN
  • Q3ZCU5_HUMAN
genes like me logo Genes that share paralogs with DLG4: view

Variants for DLG4 Gene

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  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DLG4 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
1012889 Pathogenic: not provided 7,204,024(-) TC/T
NM_001321075.3(DLG4):c.193del (p.Glu65fs) 		FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT
852768 Likely Pathogenic: not provided 7,204,007(-) C/A
NM_001321075.3(DLG4):c.210+1G>T 		SPLICE_DONOR
870938 Uncertain Significance: not provided 7,196,850(-) G/A
NM_001321075.3(DLG4):c.990C>T (p.Gly330=) 		NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS
891273 Uncertain Significance: Very long chain acyl-CoA dehydrogenase deficiency 7,220,035(-) C/T
NM_000018.4(ACADVL):c.51C>T (p.Leu17=) 		NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON
916440 Pathogenic: not provided 7,196,320(-) C/A
NM_001321075.3(DLG4):c.1201G>T (p.Glu401Ter) 		NONSENSE,NON_CODING_TRANSCRIPT

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for DLG4 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for DLG4 Gene

Human Gene Mutation Database (HGMD)
DLG4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DLG4
Leiden Open Variation Database (LOVD)
DLG4

SNP Genotyping and Copy Number Assays for research

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

Disorders for DLG4 Gene

MalaCards: The human disease database

(34) MalaCards diseases for DLG4 Gene - From: OMI, CVR, GTR, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search DLG4 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DLG4_HUMAN
  • Intellectual developmental disorder 62 (MRD62) [MIM:618793]: An autosomal dominant form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD62 is characterized by mild to moderately impaired intellectual development. {ECO:0000269 PubMed:27479843, ECO:0000269 PubMed:29460436}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for DLG4

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with DLG4: view

No data available for 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 DG … Bryant PJ (Genomics 1997) 2 3 4 22
  2. Truncating variants of the DLG4 gene are responsible for intellectual disability with marfanoid features. (PMID: 29460436) Moutton S … Faivre L (Clinical genetics 2018) 3 4 72
  3. Association study of polymorphisms in post-synaptic density protein 95 (PSD-95) with schizophrenia. (PMID: 17093888) Tsai SJ … Liou YJ (Journal of neural transmission (Vienna, Austria : 1996) 2007) 3 22 40
  4. The PDZ1 domain of SAP90. Characterization of structure and binding. (PMID: 11744724) Piserchio A … Mierke DF (The Journal of biological chemistry 2002) 3 4 22
  5. 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 AH (The Journal of biological chemistry 2000) 3 4 22

ExternalLinks

View latest publications for DLG4 gene in Mastermind

Products for DLG4 Gene