DLGAP4 Gene

Name	discs, large (Drosophila) homolog-associated protein 4
Description	The product of this gene is a membrane-associated guanylate kinase found at the postsynaptic density in neuronal cells. It is a signaling molecule that can interact with potassium channels and receptors, as well as other signaling molecules. The protein encoded by this gene can interact with PSD-95 through its guanylate kinase domain and may be involved in clustering PSD-95 in the postsynaptic density region. The encoded protein is one of at least four similar proteins that have been found. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n DLGAP4, also known as SAPAP4, is a postsynaptic scaffolding protein that plays a critical role in organizing protein complexes at excitatory synapses. Its function in the assembly and stabilization of the postsynaptic density is essential for proper synaptic morphology and plasticity. Mouse models with SAPAP4 deficiency exhibit altered synaptic architecture—such as reduced spine density in the prefrontal cortex and nucleus accumbens—and demonstrate behavioral abnormalities including impaired sociability, cognitive deficits, and features reminiscent of neurodevelopmental and psychiatric disorders (e.g. autism, schizophrenia, mania)."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "4"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n In addition to its well‐established role at the synapse, altered expression and epigenetic remodeling of DLGAP4 have been observed in clinical contexts. For example, disruption of the DLGAP4 locus through chromosomal translocation is associated with cerebellar ataxia, and differential methylation patterns of DLGAP4 have been identified in melanoma and psoriasis, suggesting that its dysregulation may contribute to diverse pathological conditions."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "5", "end_ref": "7"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n A growing body of research also highlights the functional importance of circular RNAs derived from the DLGAP4 gene (circDLGAP4). In neurodegenerative and cerebrovascular contexts, decreased levels of circDLGAP4 have been reported in models of Parkinson’s disease and acute ischemic stroke, with overexpression of circDLGAP4 showing neuroprotective effects by preserving blood–brain barrier integrity and reducing infarct sizes."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "8", "end_ref": "10"}]}, {"type": "t", "text": " Moreover, exosomal circDLGAP4 has been implicated in diabetic kidney disease by promoting mesangial cell proliferation and fibrosis via a miR‐143–ERBB3/NF‐κB/MMP‐2 regulatory axis, and in neuroblastoma, exosome‐mediated transfer of circDLGAP4 enhances glycolysis and drug resistance through the miR‐143/HK2 pathway."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "11"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Finally, transcriptomic analyses in bronchial epithelial cells exposed to respiratory sensitizers have identified DLGAP4 among the top discriminative genes, suggesting that its expression may serve as a molecular marker for respiratory sensitization."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "13"}]}, {"type": "t", "text": "\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Claudia Schob, Fabio Morellini, Ora Ohana, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Cognitive impairment and autistic-like behaviour in SAPAP4-deficient mice."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Transl Psychiatry (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41398-018-0327-z"}], "href": "https://doi.org/10.1038/s41398-018-0327-z"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30664629"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30664629"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Tianhua Wang, Yunxia Bai, Xianjie Zheng, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Sapap4 deficiency leads to postsynaptic defects and abnormal behaviors relevant to hyperkinetic neuropsychiatric disorder in mice."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cereb Cortex (2023)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/cercor/bhac123"}], "href": "https://doi.org/10.1093/cercor/bhac123"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "35368073"}], "href": "https://pubmed.ncbi.nlm.nih.gov/35368073"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Beijun Wu, Chunxia Li, Huimeng Lei "}, {"type": "b", "children": [{"type": "t", "text": "SAPAP4 Deletion Causes Synaptic Dysfunction in the nucleus accumbens."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochem Biophys Res Commun (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.bbrc.2018.10.016"}], "href": "https://doi.org/10.1016/j.bbrc.2018.10.016"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30322620"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30322620"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Stefan Kindler, Monika Rehbein, Bernhard Classen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Distinct spatiotemporal expression of SAPAP transcripts in the developing rat brain: a novel dendritically localized mRNA."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Brain Res Mol Brain Res (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.molbrainres.2004.03.014"}], "href": "https://doi.org/10.1016/j.molbrainres.2004.03.014"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15207911"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15207911"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Sheroy Minocherhomji, Claus Hansen, Hyung-Goo Kim, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Epigenetic remodelling and dysregulation of DLGAP4 is linked with early-onset cerebellar ataxia."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddu337"}], "href": "https://doi.org/10.1093/hmg/ddu337"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24986922"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24986922"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Congcong He, Yujing Zhang, Hanghang Jiang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Identification of differentially expressed methylated genes in melanoma versus nevi using bioinformatics methods."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PeerJ (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.7717/peerj.9273"}], "href": "https://doi.org/10.7717/peerj.9273"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32547879"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32547879"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Fusheng Zhou, Wenjun Wang, Changbing Shen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Epigenome-Wide Association Analysis Identified Nine Skin DNA Methylation Loci for Psoriasis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Invest Dermatol (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.jid.2015.12.029"}], "href": "https://doi.org/10.1016/j.jid.2015.12.029"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26743604"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26743604"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Zhong Feng, Li Zhang, Sa Wang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Circular RNA circDLGAP4 exerts neuroprotective effects via modulating miR-134-5p/CREB pathway in Parkinson's disease."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochem Biophys Res Commun (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.bbrc.2019.11.102"}], "href": "https://doi.org/10.1016/j.bbrc.2019.11.102"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31761328"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31761328"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Lingling Qiu, Jinfeng He, Hui Chen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "CircDLGAP4 overexpression relieves oxygen-glucose deprivation-induced neuronal injury by elevating NEGR1 through sponging miR-503-3p."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Mol Histol (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s10735-021-10036-8"}], "href": "https://doi.org/10.1007/s10735-021-10036-8"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34739656"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34739656"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Ying Bai, Yuan Zhang, Bing Han, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Circular RNA DLGAP4 Ameliorates Ischemic Stroke Outcomes by Targeting miR-143 to Regulate Endothelial-Mesenchymal Transition Associated with Blood-Brain Barrier Integrity."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Neurosci (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1523/JNEUROSCI.1348-17.2017"}], "href": "https://doi.org/10.1523/JNEUROSCI.1348-17.2017"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29114076"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29114076"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Shoujun Bai, Xiaoyan Xiong, Bo Tang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Exosomal circ_DLGAP4 promotes diabetic kidney disease progression by sponging miR-143 and targeting ERBB3/NF-κB/MMP-2 axis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell Death Dis (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41419-020-03169-3"}], "href": "https://doi.org/10.1038/s41419-020-03169-3"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33230102"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33230102"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "Wei-Qiang Tan, Li Yuan, Xiao-Yan Wu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Exosome-delivered circular RNA DLGAP4 induces chemoresistance via miR-143-HK2 axis in neuroblastoma."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cancer Biomark (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3233/CBM-210272"}], "href": "https://doi.org/10.3233/CBM-210272"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "35068445"}], "href": "https://pubmed.ncbi.nlm.nih.gov/35068445"}]}, {"type": "r", "ref": 13, "children": [{"type": "t", "text": "Sandra Verstraelen, Inge Nelissen, Jef Hooyberghs, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Gene profiles of a human bronchial epithelial cell line after in vitro exposure to respiratory (non-)sensitizing chemicals: identification of discriminating genetic markers and pathway analysis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Toxicology (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.tox.2008.10.014"}], "href": "https://doi.org/10.1016/j.tox.2008.10.014"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19041681"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19041681"}]}]}]}
Synonyms	DLP4, SAPAP4, SAPAP-4, DAP-4
Proteins	DLGP4_HUMAN
NCBI Gene ID	22839
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

DLGAP4 has 6,015 functional associations with biological entities spanning 8 categories (molecular profile, organism, chemical, functional term, phrase or reference, disease, phenotype or trait, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 121 datasets.

Click the + buttons to view associations for DLGAP4 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

DLGAP4 Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of DLGAP4 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of DLGAP4 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of DLGAP4 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of DLGAP4 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of DLGAP4 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of DLGAP4 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of DLGAP4 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of DLGAP4 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of DLGAP4 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of DLGAP4 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of DLGAP4 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of DLGAP4 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with DLGAP4 protein from the CCLE Cell Line Proteomics dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of DLGAP4 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of DLGAP4 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of DLGAP4 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	CM4AI U2OS Cell Map Protein Localization Assemblies	assemblies containing DLGAP4 protein from integrated AP-MS and IF data from the CM4AI U2OS Cell Map Protein Localization Assemblies dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of DLGAP4 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing DLGAP4 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing DLGAP4 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores 2025	cellular components containing DLGAP4 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with DLGAP4 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with DLGAP4 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of DLGAP4 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with DLGAP4 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with DLGAP4 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with DLGAP4 gene/protein from the curated CTD Gene-Disease Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of DLGAP4 protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by DLGAP4 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with DLGAP4 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with DLGAP4 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with DLGAP4 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with DLGAP4 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with DLGAP4 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at DLGAP4 gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of DLGAP4 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of DLGAP4 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	ESCAPE Omics Signatures of Genes and Proteins for Stem Cells	PubMedIDs of publications reporting gene signatures containing DLGAP4 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD Gene-Disease Associations	diseases associated with DLGAP4 gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
	GDSC Cell Line Gene Expression Profiles	cell lines with high or low expression of DLGAP4 gene relative to other cell lines from the GDSC Cell Line Gene Expression Profiles dataset.