protein
Disks large homolog 2
Gene
DLG2
Organism
Homo sapiens(9606)
Length
870 aa
Mass
97,552 Da
Disks large homolog 2 (DLG2) is a postsynaptic scaffolding protein that functions in synaptic organization and neurotransmission (UniProt: Q15700). It regulates surface expression of NMDA receptors in spinal dorsal horn neurons and interacts with cytoplasmic domains of NMDA receptor subunits as well as inward rectifying potassium channels, contributing to both chronic pain perception and synaptic stability at cholinergic synapses.
DLG2 is an excitatory synapse-associated protein with roles in regulating synaptic architecture. Its involvement in NMDA receptor signaling and potassium channel function positions it at critical junctions in neuronal signal transduction.
DLG2 is classified as SFARI Category 2, indicating a strong candidate gene for autism spectrum disorder (SFARI Cat 2). The protein's scaffolding functions in excitatory synapses and modulation of NMDA receptor signaling align with synaptic dysfunction hypotheses relevant to autism pathophysiology.
Generated from the curated entity record below. May contain errors — verify against source links.
Genetic Evidence · ASD
Strong candidate — functional studies support ASD association
Source: SFARI Gene database · gene.sfari.org
Related Publications
Browse all →Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
Ruzzo Elizabeth K et al.Cell2019PMID 31398340Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
Guo Hui et al.Molecular autism2018PMID 30564305Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
C Yuen Ryan K et al.Nature neuroscience2017PMID 28263302Identification of common genetic risk variants for autism spectrum disorder.
Grove Jakob et al.Nature genetics2019PMID 30804558Synaptic, transcriptional and chromatin genes disrupted in autism.
De Rubeis Silvia et al.Nature2014PMID 25363760
Function
Required for perception of chronic pain through NMDA receptor signaling. Regulates surface expression of NMDA receptors in dorsal horn neurons of the spinal cord. Interacts with the cytoplasmic tail of NMDA receptor subunits as well as inward rectifying potassium channels. Involved in regulation of synaptic stability at cholinergic synapses. Part of the postsynaptic protein scaffold of excitatory synapses (By similarity)
Sources
Last updated 5/6/2026, 5:24:10 AM