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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Human disease related genes Potential drug targets Transporters
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
17
Cytoband
p13.1
Chromosome location (bp)
7187187 - 7219841
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
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 (By similarity). Under basal conditions, cooperates with FYN to stabilize palmitoyltransferase ZDHHC5 at the synaptic membrane through FYN-mediated phosphorylation of ZDHHC5 and its subsequent inhibition of association with endocytic proteins 1....show less
Gene summary (Entrez)i
Useful information about the gene from Entrez
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]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
Transporters Accessory Factors Involved in Transport Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Human disease related genes Other diseases Mental and behavioural disorders Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0002091[negative regulation of receptor internalization] GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0005783[endoplasmic reticulum] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0005912[adherens junction] GO:0007165[signal transduction] GO:0007204[positive regulation of cytosolic calcium ion concentration] GO:0007268[chemical synaptic transmission] GO:0007399[nervous system development] GO:0007612[learning] GO:0008021[synaptic vesicle] GO:0008022[protein C-terminus binding] GO:0008076[voltage-gated potassium channel complex] GO:0014069[postsynaptic density] GO:0016020[membrane] GO:0016188[synaptic vesicle maturation] GO:0019900[kinase binding] GO:0019903[protein phosphatase binding] GO:0030054[cell junction] GO:0030165[PDZ domain binding] GO:0030424[axon] GO:0030425[dendrite] GO:0030666[endocytic vesicle membrane] GO:0030863[cortical cytoskeleton] GO:0031234[extrinsic component of cytoplasmic side of plasma membrane] GO:0031594[neuromuscular junction] GO:0031697[beta-1 adrenergic receptor binding] GO:0031748[D1 dopamine receptor binding] GO:0031812[P2Y1 nucleotide receptor binding] GO:0032281[AMPA glutamate receptor complex] GO:0032839[dendrite cytoplasm] GO:0033130[acetylcholine receptor binding] GO:0035255[ionotropic glutamate receptor binding] GO:0035418[protein localization to synapse] GO:0035865[cellular response to potassium ion] GO:0042995[cell projection] GO:0043005[neuron projection] GO:0043113[receptor clustering] GO:0043197[dendritic spine] GO:0044224[juxtaparanode region of axon] GO:0044306[neuron projection terminus] GO:0044309[neuron spine] GO:0044877[protein-containing complex binding] GO:0045184[establishment of protein localization] GO:0045197[establishment or maintenance of epithelial cell apical/basal polarity] GO:0045202[synapse] GO:0045211[postsynaptic membrane] GO:0048169[regulation of long-term neuronal synaptic plasticity] GO:0050806[positive regulation of synaptic transmission] GO:0060076[excitatory synapse] GO:0060997[dendritic spine morphogenesis] GO:0061098[positive regulation of protein tyrosine kinase activity] GO:0065003[protein-containing complex assembly] GO:0097060[synaptic membrane] GO:0097109[neuroligin family protein binding] GO:0097110[scaffold protein binding] GO:0097113[AMPA glutamate receptor clustering] GO:0097120[receptor localization to synapse] GO:0098609[cell-cell adhesion] GO:0098793[presynapse] GO:0098839[postsynaptic density membrane] GO:0098970[postsynaptic neurotransmitter receptor diffusion trapping] GO:0099562[maintenance of postsynaptic density structure] GO:0150012[positive regulation of neuron projection arborization] GO:2000310[regulation of NMDA receptor activity] GO:2000463[positive regulation of excitatory postsynaptic potential]
Transporters Accessory Factors Involved in Transport Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Human disease related genes Other diseases Mental and behavioural disorders Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0002091[negative regulation of receptor internalization] GO:0005102[signaling receptor binding] GO:0005109[frizzled binding] GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0005739[mitochondrion] GO:0005783[endoplasmic reticulum] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0005911[cell-cell junction] GO:0005912[adherens junction] GO:0007165[signal transduction] GO:0007204[positive regulation of cytosolic calcium ion concentration] GO:0007268[chemical synaptic transmission] GO:0007399[nervous system development] GO:0007612[learning] GO:0008021[synaptic vesicle] GO:0008022[protein C-terminus binding] GO:0008076[voltage-gated potassium channel complex] GO:0014069[postsynaptic density] GO:0016020[membrane] GO:0016188[synaptic vesicle maturation] GO:0019865[immunoglobulin binding] GO:0019894[kinesin binding] GO:0019900[kinase binding] GO:0019901[protein kinase binding] GO:0019903[protein phosphatase binding] GO:0021987[cerebral cortex development] GO:0030054[cell junction] GO:0030165[PDZ domain binding] GO:0030424[axon] GO:0030425[dendrite] GO:0030666[endocytic vesicle membrane] GO:0030863[cortical cytoskeleton] GO:0031234[extrinsic component of cytoplasmic side of plasma membrane] GO:0031594[neuromuscular junction] GO:0031697[beta-1 adrenergic receptor binding] GO:0031698[beta-2 adrenergic receptor binding] GO:0031748[D1 dopamine receptor binding] GO:0031812[P2Y1 nucleotide receptor binding] GO:0032281[AMPA glutamate receptor complex] GO:0032839[dendrite cytoplasm] GO:0033130[acetylcholine receptor binding] GO:0035176[social behavior] GO:0035254[glutamate receptor binding] GO:0035255[ionotropic glutamate receptor binding] GO:0035418[protein localization to synapse] GO:0035641[locomotory exploration behavior] GO:0035865[cellular response to potassium ion] GO:0042995[cell projection] GO:0043005[neuron projection] GO:0043113[receptor clustering] GO:0043197[dendritic spine] GO:0044224[juxtaparanode region of axon] GO:0044300[cerebellar mossy fiber] GO:0044306[neuron projection terminus] GO:0044307[dendritic branch] GO:0044309[neuron spine] GO:0044877[protein-containing complex binding] GO:0045184[establishment of protein localization] GO:0045197[establishment or maintenance of epithelial cell apical/basal polarity] GO:0045202[synapse] GO:0045211[postsynaptic membrane] GO:0048168[regulation of neuronal synaptic plasticity] GO:0048169[regulation of long-term neuronal synaptic plasticity] GO:0050775[positive regulation of dendrite morphogenesis] GO:0050806[positive regulation of synaptic transmission] GO:0050885[neuromuscular process controlling balance] GO:0060076[excitatory synapse] GO:0060997[dendritic spine morphogenesis] GO:0061098[positive regulation of protein tyrosine kinase activity] GO:0065003[protein-containing complex assembly] GO:0071625[vocalization behavior] GO:0071944[cell periphery] GO:0097060[synaptic membrane] GO:0097061[dendritic spine organization] GO:0097109[neuroligin family protein binding] GO:0097110[scaffold protein binding] GO:0097113[AMPA glutamate receptor clustering] GO:0097120[receptor localization to synapse] GO:0098609[cell-cell adhesion] GO:0098793[presynapse] GO:0098794[postsynapse] GO:0098839[postsynaptic density membrane] GO:0098919[structural constituent of postsynaptic density] GO:0098970[postsynaptic neurotransmitter receptor diffusion trapping] GO:0098978[glutamatergic synapse] GO:0099562[maintenance of postsynaptic density structure] GO:0099645[neurotransmitter receptor localization to postsynaptic specialization membrane] GO:0150012[positive regulation of neuron projection arborization] GO:1904719[positive regulation of AMPA glutamate receptor clustering] GO:1990635[proximal dendrite] GO:2000310[regulation of NMDA receptor activity] GO:2000463[positive regulation of excitatory postsynaptic potential] GO:2000821[regulation of grooming behavior]
B9EGL1 [Direct mapping] DLG4 protein; Discs, large homolog 4 (Drosophila), isoform CRA_c; Disks large homolog 4
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Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins Predicted intracellular proteins Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
O14909 [Direct mapping] Discs, large homolog 4 (Drosophila), isoform CRA_d; Disks large homolog 4; Tax interaction protein 15
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
Transporters Accessory Factors Involved in Transport Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins Predicted intracellular proteins Disease related genes Potential drug targets Human disease related genes Other diseases Mental and behavioural disorders Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0002091[negative regulation of receptor internalization] GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0005783[endoplasmic reticulum] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0005912[adherens junction] GO:0007165[signal transduction] GO:0007204[positive regulation of cytosolic calcium ion concentration] GO:0007268[chemical synaptic transmission] GO:0007399[nervous system development] GO:0007612[learning] GO:0008021[synaptic vesicle] GO:0008022[protein C-terminus binding] GO:0008076[voltage-gated potassium channel complex] GO:0014069[postsynaptic density] GO:0016020[membrane] GO:0016188[synaptic vesicle maturation] GO:0019900[kinase binding] GO:0019903[protein phosphatase binding] GO:0030054[cell junction] GO:0030165[PDZ domain binding] GO:0030424[axon] GO:0030425[dendrite] GO:0030666[endocytic vesicle membrane] GO:0030863[cortical cytoskeleton] GO:0031234[extrinsic component of cytoplasmic side of plasma membrane] GO:0031594[neuromuscular junction] GO:0031697[beta-1 adrenergic receptor binding] GO:0031748[D1 dopamine receptor binding] GO:0031812[P2Y1 nucleotide receptor binding] GO:0032281[AMPA glutamate receptor complex] GO:0032839[dendrite cytoplasm] GO:0033130[acetylcholine receptor binding] GO:0035255[ionotropic glutamate receptor binding] GO:0035418[protein localization to synapse] GO:0035865[cellular response to potassium ion] GO:0042995[cell projection] GO:0043005[neuron projection] GO:0043113[receptor clustering] GO:0043197[dendritic spine] GO:0044224[juxtaparanode region of axon] GO:0044306[neuron projection terminus] GO:0044309[neuron spine] GO:0044877[protein-containing complex binding] GO:0045184[establishment of protein localization] GO:0045197[establishment or maintenance of epithelial cell apical/basal polarity] GO:0045202[synapse] GO:0045211[postsynaptic membrane] GO:0048169[regulation of long-term neuronal synaptic plasticity] GO:0050806[positive regulation of synaptic transmission] GO:0060076[excitatory synapse] GO:0060997[dendritic spine morphogenesis] GO:0061098[positive regulation of protein tyrosine kinase activity] GO:0065003[protein-containing complex assembly] GO:0097060[synaptic membrane] GO:0097109[neuroligin family protein binding] GO:0097110[scaffold protein binding] GO:0097113[AMPA glutamate receptor clustering] GO:0097120[receptor localization to synapse] GO:0098609[cell-cell adhesion] GO:0098793[presynapse] GO:0098839[postsynaptic density membrane] GO:0098970[postsynaptic neurotransmitter receptor diffusion trapping] GO:0099562[maintenance of postsynaptic density structure] GO:0150012[positive regulation of neuron projection arborization] GO:2000310[regulation of NMDA receptor activity] GO:2000463[positive regulation of excitatory postsynaptic potential]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
B7Z647 [Direct mapping] Discs, large homolog 4 (Drosophila), isoform CRA_b; Disks large homolog 4; cDNA FLJ50646, highly similar to Discs large homolog 4; cDNA, FLJ78995, highly similar to Discs large homolog 4
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
B7Z647 [Direct mapping] Discs, large homolog 4 (Drosophila), isoform CRA_b; Disks large homolog 4; cDNA FLJ50646, highly similar to Discs large homolog 4; cDNA, FLJ78995, highly similar to Discs large homolog 4
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
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