DLGAP4
DLG Associated Protein 4
Gene Information Card
| Symbol | DLGAP4 |
|---|---|
| Full Name | DLG associated protein 4 |
| Gene Type | protein-coding |
| Chromosomal Location | 20q11.23 |
| NCBI Gene ID | 22839 ncbi.nlm.nih.gov/gene/22839 |
| Ensembl ID | ENSG00000101204 |
| UniProt ID | Q9Y2H0 |
| OMIM ID | 605438 |
| HGNC ID | 2900 |
| Aliases | SAPAP4, GKAP4, DAP-4, SAP90/PSD-95-associated protein 4 |
Description
DLGAP4 encodes a member of the DLGAP (discs large-associated protein) family, which interacts with PSD-95 and other MAGUK proteins at postsynaptic densities. The protein is involved in synaptic organization and plasticity, and variants have been associated with neurodevelopmental disorders including schizophrenia and autism spectrum disorder.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Schizophrenia | Altered synaptic scaffolding and glutamate signaling; rare copy number variants and missense variants reported | PMID: 23714751; ClinVar |
| Autism spectrum disorder | Disruption of DLGAP4 expression affects synaptic maturation and dendritic spine density | PMID: 25621899; ClinVar |
| Intellectual disability | Loss-of-function variants impair postsynaptic density assembly | ClinVar; PMID: 27824329 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Testis | 4.2 | Medium |
| Heart | 3.1 | Medium |
| Liver | 1.8 | Low |
| Kidney | 2.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 8.9 | Neuronal model |
| HEK293 | 3.2 | Low endogenous expression |
| U87 MG | 5.1 | Glioblastoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1123C>T (p.Arg375Trp) | Missense | <0.01% | Altered protein interaction with PSD-95 |
| c.1456_1457del (p.Leu486fs) | Frameshift | Rare | Loss of function; associated with intellectual disability |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants leading to truncated protein or nonsense-mediated decay.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Missense variants that disrupt DLGAP4-PSD-95 interaction may exert dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • chemical synaptic transmission (GO:0007268) | • postsynaptic density (GO:0014069) |
| • cell junction (GO:0030054) | • synapse (GO:0045202) |
| • scaffold protein binding (GO:0097110) |
Pathways
• Synaptic signaling pathway (Reactome R-HSA-112316)
• Glutamatergic synapse (KEGG hsa04724)
• Long-term potentiation (KEGG hsa04720)
Protein Summary
DLGAP4 is a 960-amino acid protein containing multiple ankyrin repeats and a C-terminal PDZ-binding motif. It localizes to postsynaptic densities and scaffolds signaling complexes involving PSD-95, NMDA receptors, and cytoskeletal elements. Alternative splicing generates isoforms with distinct expression patterns.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DLGAP4 Knockout HEK293 Cell Line | EDJ-KQ7688 | Human | 22839 | Details Get a Quote |
| DLGAP4 Knockout A-549 Cell Line | EDJ-KQ33054 | Human | 22839 | Details Get a Quote |
| DLGAP4 Knockout HCT 116 Cell Line | EDJ-KQ33055 | Human | 22839 | Details Get a Quote |
| DLGAP4 Knockout HeLa Cell Line | EDJ-KQ33056 | Human | 22839 | Details Get a Quote |
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