gene 543 words KG: DLGAP2 2026-03-20
kind:genesection:genesstate:published
Contents

DLGAP2 Gene

🧬 Gene Info
Gene SymbolDLGAP2
Chromosome8p23.3
Protein TypeScaffold Protein
FunctionDLGAP2 is a core component of the postsynaptic density complex, where it mediates interactions between glutamate receptors, particularly AMPA receptors, and the underlying cytoskeleton.
Primary Expressionthe brain, particularly in: - Cerebral cortex - Hippocampus - Striatum (for DLGAP3) - [Cerebell
UniProt IDO75179
NCBI Gene ID9228
Ensembl IDENSG00000198010
GeneCardsDLGAP2
Human Protein AtlasDLGAP2
Autism Spectrum DisorderRare variants in DLGAP2 have been identified in patients with ASD.
Intellectual DisabilityLoss-of-function mutations contribute to intellectual disability phenotypes.
Obsessive-Compulsive DisorderDLGAP2 (particularly SAPAP3/DLGAP3) has been linked to OCD-like behaviors in mouse models.
Associated DiseasesMs
KG Connections12 knowledge graph edges
DatabasesGeneCardsHPASTRING

Knowledge Graph