DLGAP2
DLG Associated Protein 2
Gene Information Card
| Symbol | DLGAP2 |
|---|---|
| Full Name | DLG Associated Protein 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 8p23.3 |
| NCBI Gene ID | 9228 ncbi.nlm.nih.gov/gene/9228 |
| Ensembl ID | ENSG00000198089 |
| UniProt ID | Q9P1A6 |
| OMIM ID | 605438 |
| HGNC ID | 2900 |
| Aliases | DAP2, SAPAP2, GKAP2 |
Description
DLGAP2 (DLG Associated Protein 2) encodes a member of the DLGAP family of synaptic scaffolding proteins. The protein interacts with PSD-95 and other postsynaptic density components, playing a role in synaptic organization and plasticity. DLGAP2 is implicated in neuropsychiatric disorders including autism spectrum disorder and schizophrenia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autism spectrum disorder | Disruption of synaptic scaffolding leading to altered glutamatergic signaling | ClinVar, OMIM |
| Schizophrenia | Genetic association and altered expression in prefrontal cortex | NCBI Gene, PubMed |
| Intellectual disability | Copy number variants and rare mutations affecting synaptic function | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Testis | 3.2 | Low |
| Adrenal gland | 1.8 | Low |
| Thyroid | 1.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 8.9 | Neuronal model |
| U-87 MG | 2.1 | Glioblastoma |
| HEK 293 | 0.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.226C>T (p.Arg76*) | Nonsense | Rare | Loss of function |
| c.1045_1046del (p.Leu349fs) | Frameshift | Rare | Loss of function |
| c.1523G>A (p.Arg508His) | Missense | Rare | Unknown |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein or nonsense-mediated decay.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • synaptic signaling | • postsynaptic density assembly |
| • protein binding | • cell junction |
Pathways
• PSD-95 associated complex
• Glutamatergic synapse
• Synaptic scaffolding
Protein Summary
DLGAP2 is a 1,048-amino acid protein that localizes to the postsynaptic density of excitatory synapses. It contains multiple PDZ-binding motifs and a GKAP domain, mediating interactions with DLG4 (PSD-95) and SHANK proteins. The protein is essential for synaptic maturation and receptor clustering.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DLGAP2 Knockout HEK293 Cell Line | EDJ-KQ6510 | Human | 9228 | Details Get a Quote |
| DLGAP2 Knockout HeLa Cell Line | EDJ-KQ55106 | Human | 9228 | Details Get a Quote |
| DLGAP2 Knockout A-549 Cell Line | EDJ-KQ63588 | Human | 9228 | Details Get a Quote |
| DLGAP2 Knockout HCT 116 Cell Line | EDJ-KQ72053 | Human | 9228 | Details Get a Quote |
