DLG4 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | DLG4 |
| Official Name | discs large MAGUK scaffold protein 4 [Source:HGNC Symbol;Acc:HGNC:2903] |
| Ensembl ID | ENSG00000132535 |
| Bio databases IDs | |
| Aliases | discs large MAGUK scaffold protein 4 |
| Synonyms | discs large MAGUK scaffold protein 4, Dlgh4, MRD62, PSD-95, SAP-90, SAP90A |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human DLG4 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- frizzled binding
- G-protein-coupled receptor binding
- guanylate kinase
- Polyubiquitination (PEST) N-terminal domain of MAGUK
- cytoplasmic domain
- guanylate kinase-like domain
- Domain present in PSD-95, Dlg, and ZO-1/2
- palmitoylation site
- protein kinase binding
- oligomerization domain
- protein phosphatase binding
- canonical PDZ domain
- protein binding
- receptor binding
- PDZ domain
- ionotropic glutamate receptor binding
- kinesin binding
- PDZ-domain binding
- Src Homology 3 domain superfamily
- kinase
- binding protein
- kinase binding
- NK
- hinge domain
- cpPDZ_Deg_HtrA-like
- PDZ binding motif
- structural molecule
- PDZ-associated domain of NMDA receptors
Pathways
Biological processes and signaling networks where the DLG4 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- COVID-19
- renal cancer
- autosomal dominant mental retardation type 62
- cortical visual impairment and intellectual disability
- hereditary disorder
- epithelial cancer
- marfanoid habitus with mental retardation
- schizophrenia
- frontotemporal dementia with tauopathy
- metabolic syndrome X
role in cell
- migration
- expression in
- growth
- synaptic transmission
- phosphorylation in
- formation
- formation in
- apoptosis
- cell death
- quantity
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- microsomal fraction
- plasma membrane fraction
- synaptic plasma membrane fractions
- postsynaptic density (PSD) fractions
- membrane fraction
- insoluble fractions
- synaptic spine
- mushroom spine
- glutaminergic synapse
- cell junction
- cortical cytoskeleton
- endocytic vesicle membrane
- axon component
- intracellular compartment
- stubby spine
- Cytoplasm
- presynaptic regions
- cell surface
- cell periphery
- intracellular space
- somatodendritic region
- perinuclear region
- postsynaptic region
- intracellular membranes
- membrane surface
- cellular membrane
- Endoplasmic Reticulum
- intercellular junctions
- cytosol
- presynaptic membrane
- postsynaptic membrane
- synaptic membrane
- dendritic spines
- dendritic spine head
- synaptic vesicles
- neurites
- nerve ending
- dendrite initial segments
- juxtaparanodes
- synaptosomes
- synapse
- membrane rafts
- cellular protrusions
- membrane processes
- perikaryon
- axons
- dendrites
- postsynaptic density
- axon terminals
- presynaptic terminals
- postsynaptic terminals
- ribbon synapse
- excitatory synapses
- dendritic shafts
- dendritic branches
- detergent-soluble fraction
- synaptosomal fractions
- cytosolic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human DLG4 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- embryo development
- locomotory exploration behavior
- positive regulation of protein tyrosine kinase activity
- nervous system development
- learning
- regulation of long-term neuronal synaptic plasticity
- establishment or maintenance of epithelial cell apical/basal polarity
- regulation of N-methyl-D-aspartate selective glutamate receptor activity
- protein localization to synapse
- social behavior
- negative regulation of receptor internalization
- macromolecular complex assembly
- signal transduction
- positive regulation of synaptic transmission
- synaptic transmission
- receptor localization to synapse
- dendritic spine morphogenesis
- elevation of cytosolic calcium ion concentration
- establishment of protein localization
- alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate receptor clustering
- positive regulation of excitatory postsynaptic membrane potential
- synaptic vesicle maturation
- regulation of grooming behavior
- neuromuscular process controlling balance
- vocalization behavior
- cellular response to potassium ion
Cellular Component
Where in the cell the gene product is active
- postsynaptic density
- synaptic vesicle
- synapse
- neuron projection
- postsynaptic membrane
- dendritic spine
- extrinsic to internal side of plasma membrane
- cytosol
- neuromuscular junction
- endocytic vesicle membrane
- cortical cytoskeleton
- alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex
- neuron spine
- voltage-gated potassium channel complex
- excitatory synapse
- cerebellar mossy fiber
- endoplasmic reticulum
- juxtaparanode region of axon
- synaptic membrane
- plasma membrane
- neuron projection terminus
- adherens junction
- cytoplasm
- dendrite cytoplasm
- cell junction
- basolateral plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein kinase binding
- ionotropic glutamate receptor binding
- protein phosphatase binding
- acetylcholine receptor binding
- scaffold protein binding
- D1 dopamine receptor binding
- P2Y1 nucleotide receptor binding
- protein binding
- PDZ domain binding
- neuroligin family protein binding
- kinase binding
- beta-1 adrenergic receptor binding