Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1740
Gene name	Discs large MAGUK scaffold protein 2
Gene symbol	DLG2
Synonyms (NCBI Gene)	PPP1R58PSD-93PSD93chapsyn-110
Chromosome	11
Chromosome location	11q14.1
Summary	This gene encodes a member of the membrane-associated guanylate kinase (MAGUK) family. The encoded protein forms a heterodimer with a related family member that may interact at postsynaptic sites to form a multimeric scaffold for the clustering of recepto

111

Show/Hide all (111)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017170	hsa-miR-335-5p	Microarray	18185580
MIRT019305	hsa-miR-148b-3p	Microarray	17612493
MIRT938169	hsa-miR-1285	CLIP-seq
MIRT938170	hsa-miR-135a	CLIP-seq
MIRT938171	hsa-miR-135b	CLIP-seq
MIRT938172	hsa-miR-1587	CLIP-seq
MIRT938173	hsa-miR-23a	CLIP-seq
MIRT938174	hsa-miR-23b	CLIP-seq
MIRT938175	hsa-miR-23c	CLIP-seq
MIRT938176	hsa-miR-2467-3p	CLIP-seq
MIRT938177	hsa-miR-3187-5p	CLIP-seq
MIRT938178	hsa-miR-3622b-5p	CLIP-seq
MIRT938179	hsa-miR-378g	CLIP-seq
MIRT938180	hsa-miR-4314	CLIP-seq
MIRT938181	hsa-miR-4486	CLIP-seq
MIRT938182	hsa-miR-4492	CLIP-seq
MIRT938183	hsa-miR-4498	CLIP-seq
MIRT938184	hsa-miR-4656	CLIP-seq
MIRT938185	hsa-miR-4675	CLIP-seq
MIRT938186	hsa-miR-4741	CLIP-seq
MIRT938187	hsa-miR-4761-5p	CLIP-seq
MIRT938188	hsa-miR-612	CLIP-seq
MIRT938189	hsa-miR-762	CLIP-seq
MIRT938169	hsa-miR-1285	CLIP-seq
MIRT938172	hsa-miR-1587	CLIP-seq
MIRT938173	hsa-miR-23a	CLIP-seq
MIRT938174	hsa-miR-23b	CLIP-seq
MIRT938175	hsa-miR-23c	CLIP-seq
MIRT938176	hsa-miR-2467-3p	CLIP-seq
MIRT938190	hsa-miR-3065-5p	CLIP-seq
MIRT938177	hsa-miR-3187-5p	CLIP-seq
MIRT938191	hsa-miR-361-3p	CLIP-seq
MIRT938192	hsa-miR-3614-3p	CLIP-seq
MIRT938193	hsa-miR-3688-3p	CLIP-seq
MIRT938179	hsa-miR-378g	CLIP-seq
MIRT938194	hsa-miR-3923	CLIP-seq
MIRT938195	hsa-miR-3978	CLIP-seq
MIRT938180	hsa-miR-4314	CLIP-seq
MIRT938181	hsa-miR-4486	CLIP-seq
MIRT938182	hsa-miR-4492	CLIP-seq
MIRT938183	hsa-miR-4498	CLIP-seq
MIRT938184	hsa-miR-4656	CLIP-seq
MIRT938185	hsa-miR-4675	CLIP-seq
MIRT938196	hsa-miR-4694-3p	CLIP-seq
MIRT938197	hsa-miR-4704-5p	CLIP-seq
MIRT938186	hsa-miR-4741	CLIP-seq
MIRT938198	hsa-miR-4803	CLIP-seq
MIRT938199	hsa-miR-522	CLIP-seq
MIRT938188	hsa-miR-612	CLIP-seq
MIRT938200	hsa-miR-628-3p	CLIP-seq
MIRT938189	hsa-miR-762	CLIP-seq
MIRT1977609	hsa-miR-3166	CLIP-seq
MIRT2212909	hsa-miR-1273f	CLIP-seq
MIRT2212910	hsa-miR-30a	CLIP-seq
MIRT2212911	hsa-miR-30b	CLIP-seq
MIRT2212912	hsa-miR-30c	CLIP-seq
MIRT2212913	hsa-miR-30d	CLIP-seq
MIRT2212914	hsa-miR-30e	CLIP-seq
MIRT2212915	hsa-miR-3173-3p	CLIP-seq
MIRT2212916	hsa-miR-3607-3p	CLIP-seq
MIRT2212917	hsa-miR-3686	CLIP-seq
MIRT2212918	hsa-miR-3919	CLIP-seq
MIRT2212919	hsa-miR-4533	CLIP-seq
MIRT2212920	hsa-miR-4540	CLIP-seq
MIRT2212921	hsa-miR-4691-5p	CLIP-seq
MIRT2212922	hsa-miR-4747-5p	CLIP-seq
MIRT2212923	hsa-miR-4756-3p	CLIP-seq
MIRT2212924	hsa-miR-508-5p	CLIP-seq
MIRT2212925	hsa-miR-518a-5p	CLIP-seq
MIRT2212926	hsa-miR-527	CLIP-seq
MIRT2212927	hsa-miR-541	CLIP-seq
MIRT2212928	hsa-miR-590-3p	CLIP-seq
MIRT2212929	hsa-miR-593	CLIP-seq
MIRT2212930	hsa-miR-654-5p	CLIP-seq
MIRT2212931	hsa-miR-766	CLIP-seq
MIRT2386926	hsa-miR-4257	CLIP-seq
MIRT2386927	hsa-miR-3122	CLIP-seq
MIRT2386928	hsa-miR-3689a-3p	CLIP-seq
MIRT2386929	hsa-miR-3689c	CLIP-seq
MIRT2386930	hsa-miR-3913-5p	CLIP-seq
MIRT2386931	hsa-miR-4728-5p	CLIP-seq
MIRT2448287	hsa-miR-3138	CLIP-seq
MIRT2448288	hsa-miR-4311	CLIP-seq
MIRT2448289	hsa-miR-4428	CLIP-seq
MIRT2448287	hsa-miR-3138	CLIP-seq
MIRT2448288	hsa-miR-4311	CLIP-seq
MIRT2448289	hsa-miR-4428	CLIP-seq
MIRT2516834	hsa-miR-130a	CLIP-seq
MIRT2516835	hsa-miR-130b	CLIP-seq
MIRT2516836	hsa-miR-301a	CLIP-seq
MIRT2516837	hsa-miR-301b	CLIP-seq
MIRT938190	hsa-miR-3065-5p	CLIP-seq
MIRT2516838	hsa-miR-3666	CLIP-seq
MIRT2516839	hsa-miR-4295	CLIP-seq
MIRT2516840	hsa-miR-454	CLIP-seq
MIRT2516841	hsa-miR-4696	CLIP-seq
MIRT2516842	hsa-miR-519a	CLIP-seq
MIRT2516843	hsa-miR-519b-3p	CLIP-seq
MIRT2516844	hsa-miR-519c-3p	CLIP-seq
MIRT2516834	hsa-miR-130a	CLIP-seq
MIRT2516835	hsa-miR-130b	CLIP-seq
MIRT2516836	hsa-miR-301a	CLIP-seq
MIRT2516837	hsa-miR-301b	CLIP-seq
MIRT938190	hsa-miR-3065-5p	CLIP-seq
MIRT2516838	hsa-miR-3666	CLIP-seq
MIRT2516839	hsa-miR-4295	CLIP-seq
MIRT2516840	hsa-miR-454	CLIP-seq
MIRT2516841	hsa-miR-4696	CLIP-seq
MIRT2516842	hsa-miR-519a	CLIP-seq
MIRT2516843	hsa-miR-519b-3p	CLIP-seq
MIRT2516844	hsa-miR-519c-3p	CLIP-seq

Show/Hide all (42)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004385	Function	GMP kinase activity	TAS	8755482
GO:0005515	Function	Protein binding	IPI	15304517, 19118189, 32296183, 35914814
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	8755482
GO:0005912	Component	Adherens junction	NAS	23397623
GO:0007268	Process	Chemical synaptic transmission	IBA
GO:0007268	Process	Chemical synaptic transmission	IEA
GO:0007399	Process	Nervous system development	IBA
GO:0008076	Component	Voltage-gated potassium channel complex	ISS
GO:0014069	Component	Postsynaptic density	IEA
GO:0014069	Component	Postsynaptic density	ISS
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	ISS
GO:0016323	Component	Basolateral plasma membrane	IBA
GO:0019900	Function	Kinase binding	IDA	21119615
GO:0019900	Function	Kinase binding	IEA
GO:0019901	Function	Protein kinase binding	IBA
GO:0030424	Component	Axon	IEA
GO:0031594	Component	Neuromuscular junction	IBA
GO:0031594	Component	Neuromuscular junction	IEA
GO:0035255	Function	Ionotropic glutamate receptor binding	IBA
GO:0035418	Process	Protein localization to synapse	IBA
GO:0035865	Process	Cellular response to potassium ion	ISS
GO:0042995	Component	Cell projection	IEA
GO:0043005	Component	Neuron projection	IBA
GO:0043005	Component	Neuron projection	IEA
GO:0043113	Process	Receptor clustering	IBA
GO:0043204	Component	Perikaryon	IEA
GO:0044224	Component	Juxtaparanode region of axon	ISS
GO:0045197	Process	Establishment or maintenance of epithelial cell apical/basal polarity	IBA
GO:0045197	Process	Establishment or maintenance of epithelial cell apical/basal polarity	NAS	23397623
GO:0045202	Component	Synapse	IEA
GO:0046037	Process	GMP metabolic process	IEA
GO:0046710	Process	GDP metabolic process	IEA
GO:0097120	Process	Receptor localization to synapse	IBA
GO:0098609	Process	Cell-cell adhesion	IBA
GO:0098839	Component	Postsynaptic density membrane	IBA
GO:0099072	Process	Regulation of postsynaptic membrane neurotransmitter receptor levels	IBA
GO:0099641	Process	Anterograde axonal protein transport	ISS
GO:0099642	Process	Retrograde axonal protein transport	ISS
GO:1904115	Component	Axon cytoplasm	IEA

MIM	HGNC	e!Ensembl
603583	2901	ENSG00000150672

Q15700

Protein name

Disks large homolog 2 (Channel-associated protein of synapse-110) (Chapsyn-110) (Postsynaptic density protein PSD-93)

Protein 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 re

PDB

2BYG , 2HE2

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF10608	MAGUK_N_PEST	14 → 97	Polyubiquitination (PEST) N-terminal domain of MAGUK	Domain
PF00595	PDZ	98 → 182	PDZ domain	Domain
PF00595	PDZ	193 → 277	PDZ domain	Domain
PF10600	PDZ_assoc	278 → 345	PDZ-associated domain of NMDA receptors	Domain
PF00595	PDZ	421 → 499	PDZ domain	Domain
PF00018	SH3_1	542 → 598	SH3 domain	Domain
PF00625	Guanylate_kin	679 → 857	Guanylate kinase	Domain

Sequence

MFFACYCALRTNVKKYRYQDEDAPHDHSLPRLTHEVRGPELVHVSEKNLSQIENVHGYVL
QSHISPLKASPAPIIVNTDTLDTIPYVNGTEIEYEFEEITLERGNSGLGFSIAGGTDNPH
IGDDPGIFITKIIPGGAAAEDGRLRVNDCILRVNEVDVSEVSHSKAVEALKEAGSIVRLY
VRRRRPILETVVEIKLFKGPKGLGFSIAGGVGNQHIPGDNSIYVTKIIDGGAAQKDGRLQ
VGDRLLMVNNYSLEEVTHEEAVAILKNTSEVVYLKVGKPTTIYMTDPYGPPDITHSYSPP
MENHLLSGNNGTLEYKTSLPPISPGRYSPIPKHMLVDDDYTRPPEPVYSTVNKLCDKPAS
PRHYSPVECDKSFLLSAPYSHYHLGLLPDSEMTSHSQHSTATRQPSMTLQRAVSLEGEPR
KVVLHKGSTGLGFNIVGGEDGEGIFVSFILAGGPADLSGELQRGDQILSVNGIDLRGASH
EQAAAALKGAGQTVTIIAQYQPEDYARFEAKIHDLREQMMNHSMSSGSGSLRTNQKRSLY
VRAMFDYDKSKDSGLPSQGLSFKYGDILHVINASDDEWWQARRVMLEGDSEEMGVIPSKR
RVERKERARLKTVKFNAKPGVIDSKGSFNDKRKKSFIFSRKFPFYKNKEQSEQETSDPER
GQEDLILSYEPVTRQEINYTRPVIILGPMKDRINDDLISEFPDKFGSCVPHTTRPKRDYE
VDGRDYHFVISREQMEKDIQEHKFIEAGQYNDNLYGTSVQSVRFVAERGKHCILDVSGNA
IKRLQVAQLYPIAIFIKPRSLEPLMEMNKRLTEEQAKKTYDRAIKLEQEFGEYFTAIVQG
DTLEDIYNQCKLVIEEQSGPFIWIPSKEKL

Sequence length

870

Interactions

View interactions

	KEGG		Reactome
	Hippo signaling pathway Tight junction Human papillomavirus infection		Unblocking of NMDA receptors, glutamate binding and activation RAF/MAP kinase cascade Neurexins and neuroligins

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (39)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANOREXIA NERVOSA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL ADENOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISORDER OF DEVELOPMENT OR MORPHOGENESIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DLG2-related disorder	Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSHIDROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC PULMONARY FIBROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar GWAS catalog	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LUNG CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELANOMA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDER	—	GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC FATTY LIVER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIODONTITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA AND RELATED DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SMALL VESSEL STROKE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNIPOLAR DEPRESSION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

DLG2 (discs large MAGUK scaffold protein 2)