DLGAP3
DLG Associated Protein 3
Gene Information Card
| Symbol | DLGAP3 |
|---|---|
| Full Name | DLG Associated Protein 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p34.3 |
| NCBI Gene ID | 58512 ncbi.nlm.nih.gov/gene/58512 |
| Ensembl ID | ENSG00000116544 |
| UniProt ID | O95886 |
| OMIM ID | 611413 |
| HGNC ID | 28958 |
| Aliases | SAPAP3, DAP-3, SAP90/PSD-95-associated protein 3 |
Description
DLGAP3 (DLG Associated Protein 3), also known as SAPAP3, encodes a member of the SAPAP family of scaffolding proteins. It is highly expressed in the striatum and interacts with PSD-95 and other postsynaptic density proteins to regulate synaptic signaling. DLGAP3 is critical for glutamatergic synapse function and has been implicated in obsessive-compulsive disorder (OCD), trichotillomania, and other neuropsychiatric conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Obsessive-Compulsive Disorder (OCD) | DLGAP3 variants may alter synaptic scaffolding in striatal circuits, impairing glutamate signaling and leading to compulsive behaviors. | Genetic association studies (PMID: 19136953) |
| Trichotillomania | Rare variants in DLGAP3 disrupt postsynaptic density protein interactions, contributing to hair-pulling compulsions. | Case-control sequencing (PMID: 19136953) |
| Autism Spectrum Disorder | DLGAP3 copy number variants and rare mutations affect synaptic plasticity and social behavior pathways. | CNV analysis (PMID: 22975876) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (striatum) | 45.2 | High |
| Brain (cortex) | 12.8 | Medium |
| Brain (cerebellum) | 8.5 | Low |
| Testis | 3.1 | Low |
| Other tissues | <1.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.3 | Neuronal model |
| U-87 MG (glioblastoma) | 2.1 | Low expression |
| HEK293 (embryonic kidney) | 0.5 | Minimal expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.184C>T (p.Arg62Trp) | Missense | Rare | Alters SAPAP3-PSD-95 interaction; associated with OCD |
| c.487G>A (p.Gly163Ser) | Missense | Rare | Reduced synaptic clustering; linked to trichotillomania |
| c.1021_1023del (p.Lys341del) | In-frame deletion | Rare | Disrupts GKAP domain; loss of scaffolding function |
Mutation functional classification
Loss of Function (LOF)
Deletion or truncation variants that impair SAPAP3 protein stability or synaptic localization.
Gain of Function (GOF)
Not reported for DLGAP3.
Dominant Negative (DN)
Missense mutations that disrupt multimerization with PSD-95 family members.
View complete mutation data：
Gene Ontology (GO)
| • synaptic signaling | • postsynaptic density assembly |
| • protein homodimerization activity | • glutamatergic synapse |
| • PDZ domain binding |
Pathways
• PSD-95 associated protein network
• Glutamatergic synapse signaling
• Synaptic scaffolding complex
Protein Summary
DLGAP3 (SAPAP3) is a 868-amino acid scaffolding protein localized to the postsynaptic density of excitatory synapses. It contains multiple PDZ-binding motifs and a GKAP domain, mediating interactions with PSD-95, Shank, and other synaptic proteins. SAPAP3 is essential for the structural and functional integrity of corticostriatal synapses, and its dysregulation is linked to compulsive behaviors.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DLGAP3 Knockout HEK293 Cell Line | EDJ-KQ13158 | Human | 58512 | Details Get a Quote |
| DLGAP3 Knockout HeLa Cell Line | EDJ-KQ56946 | Human | 58512 | Details Get a Quote |
| DLGAP3 Knockout A-549 Cell Line | EDJ-KQ65453 | Human | 58512 | Details Get a Quote |
| DLGAP3 Knockout HCT 116 Cell Line | EDJ-KQ73889 | Human | 58512 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
