DLG2: Discs Large MAGUK Scaffold Protein 2
A comprehensive biomedical resource for DLG2, encoding a membrane-associated guanylate kinase involved in synaptic scaffolding and signaling.
Gene Information Card
| Symbol | DLG2 |
|---|---|
| Full Name | discs large MAGUK scaffold protein 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 11q14.1 |
| NCBI Gene ID | 1740 ncbi.nlm.nih.gov/gene/1740 |
| Ensembl ID | ENSG00000150672 |
| UniProt ID | Q15700 |
| OMIM ID | 603583 |
| HGNC ID | 2901 |
| Aliases | PSD-93, chapsyn-110, DKFZp686A05104, FLJ37266 |
Description
DLG2 (discs large MAGUK scaffold protein 2) encodes a member of the membrane-associated guanylate kinase (MAGUK) family. The protein, also known as PSD-93 or chapsyn-110, is a major scaffolding component of the postsynaptic density (PSD) in neurons. It interacts with NMDA receptors, potassium channels, and other signaling molecules, playing a critical role in synaptic organization, receptor clustering, and signal transduction. DLG2 is implicated in neurodevelopmental and psychiatric disorders, including schizophrenia, autism spectrum disorder, and intellectual disability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Schizophrenia | Genetic association and rare variants affecting synaptic scaffolding and NMDA receptor signaling | Multiple genome-wide association studies (GWAS) and sequencing studies (e.g., PMID: 25056061, PMID: 30285260) |
| Autism Spectrum Disorder | De novo and inherited missense/loss-of-function variants disrupting synaptic function | Exome sequencing studies (e.g., PMID: 22495306, PMID: 25363760) |
| Intellectual Disability | Copy number variants and point mutations affecting protein stability and interactions | Case reports and cohort studies (e.g., PMID: 24658001, PMID: 27569544) |
| Bipolar Disorder | GWAS signals and rare variant burden in DLG2 | Large-scale genetic studies (e.g., PMID: 29906448) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 38.5 | High |
| Cerebral cortex | 45.2 | High |
| Hippocampus | 42.1 | High |
| Cerebellum | 30.8 | High |
| Testis | 6.3 | Low |
| Heart | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 28.4 | Neuronal model |
| U-87 MG (glioblastoma) | 15.2 | Glial origin |
| HEK 293 (embryonic kidney) | 1.8 | Low expression |
| HeLa (cervical carcinoma) | 0.9 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | Rare | Loss of function; associated with schizophrenia |
| c.567_568del (p.Glu190fs) | Frameshift | Rare | Loss of function; intellectual disability |
| c.2101G>A (p.Gly701Arg) | Missense | Rare | Altered protein stability; autism spectrum disorder |
| c.3456+1G>A | Splice site | Rare | Splicing defect; predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and splice-site variants that truncate or destabilize the protein, reducing synaptic scaffolding capacity.
Gain of Function (GOF)
Not well documented; no clear gain-of-function mutations reported in DLG2.
Dominant Negative (DN)
Missense variants that disrupt multimerization or interaction with NMDA receptors may exert dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
Pathways
• NMDA receptor signaling (Reactome: R-HSA-438066)
• Postsynaptic density assembly (Reactome: R-HSA-6794362)
• MAGUK family interactions (Reactome: R-HSA-6794361)
Protein Summary
DLG2 (PSD-93) is a 1,119-amino acid scaffolding protein containing three PDZ domains, an SH3 domain, and a guanylate kinase (GK) domain. It localizes to the postsynaptic density of excitatory synapses, where it clusters NMDA receptors and Shaker-type potassium channels. Through its PDZ domains, it binds to the C-termini of NR2 subunits of NMDA receptors and other synaptic proteins. DLG2 is essential for synaptic plasticity, learning, and memory. Mutations and dysregulation are linked to neuropsychiatric disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DLG2 Knockout HEK293 Cell Line | EDJ-KQ812 | Human | 1740 | Details Get a Quote |
| DLG2 Knockout HeLa Cell Line | EDJ-KQ20903 | Human | 1740 | Details Get a Quote |
| DLG2 Knockout A-549 Cell Line | EDJ-KQ61560 | Human | 1740 | Details Get a Quote |
| DLG2 Knockout HCT 116 Cell Line | EDJ-KQ70052 | Human | 1740 | Details Get a Quote |
| DLG2 Knockout HAP1 Cell Line | EDC07980 | Human | 1740 | Details Get a Quote |
