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

Gene Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	1740
Gene name Gene Name - the full gene name approved by the HGNC.	Discs large MAGUK scaffold protein 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	DLG2
Synonyms (NCBI Gene) Gene synonyms aliases	PPP1R58, PSD-93, PSD93, chapsyn-110
Chromosome Chromosome number	11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	11q14.1
Summary Summary of gene provided in NCBI Entrez Gene.	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

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(31)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000165	Process	MAPK cascade	TAS
GO:0004385	Function	Guanylate kinase activity	TAS	8755482
GO:0005515	Function	Protein binding	IPI	15304517, 19118189, 32296183
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	TAS
GO:0007268	Process	Chemical synaptic transmission	IBA	21873635
GO:0008076	Component	Voltage-gated potassium channel complex	ISS
GO:0008328	Component	Ionotropic glutamate receptor complex	IBA	21873635
GO:0009790	Process	Embryo development	IBA	21873635
GO:0010923	Process	Negative regulation of phosphatase activity	IDA	19389623
GO:0014069	Component	Postsynaptic density	ISS
GO:0016020	Component	Membrane	ISS
GO:0016323	Component	Basolateral plasma membrane	IBA	21873635
GO:0019900	Function	Kinase binding	IDA	21119615
GO:0030054	Component	Cell junction	IBA	21873635
GO:0031594	Component	Neuromuscular junction	IBA	21873635
GO:0035865	Process	Cellular response to potassium ion	ISS
GO:0043005	Component	Neuron projection	IBA	21873635
GO:0043113	Process	Receptor clustering	IBA	21873635
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	21873635
GO:0046037	Process	GMP metabolic process	IEA
GO:0046710	Process	GDP metabolic process	IEA
GO:0097120	Process	Receptor localization to synapse	IBA	21873635
GO:0098609	Process	Cell-cell adhesion	IBA	21873635
GO:0098839	Component	Postsynaptic density membrane	IBA	21873635
GO:0099641	Process	Anterograde axonal protein transport	ISS
GO:0099642	Process	Retrograde axonal protein transport	ISS
GO:1904115	Component	Axon cytoplasm	IEA
GO:2000310	Process	Regulation of NMDA receptor activity	TAS

MIM	HGNC	e!Ensembl
603583	2901	ENSG00000150672

Protein

UniProt ID

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

Show/Hide Causal Diseases (6)

Disease term	Disease name	dbSNP ID	References
Causal
Melanoma	melanoma	rs121913315, rs121913323, rs137853080, rs137853081, rs121909232, rs121913388, rs104894094, rs104894095, rs104894097, rs104894098, rs104894099, rs104894109, rs137854599, rs11547328, rs104894340 View all (64 more)	22535842
Myopia	Myopia	rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805 View all (6 more)	27182965
Nephroblastoma	Nephroblastoma	rs1553551874, rs1555913934, rs769116796	22544364
Parkinson disease	Parkinson Disease	rs33939927, rs35801418, rs34805604, rs35870237, rs34995376, rs74315355, rs28940284, rs74315356, rs74315357, rs28940285, rs730880302, rs750664040, rs74315359, rs74315360, rs45539432 View all (84 more)	28892059, 25064009, 28011712
Rheumatoid arthritis	Rheumatoid Arthritis	rs587776843	30166627
Schizophrenia	Schizophrenia, Schizophrenia and related disorders	rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346 View all (12 more)	21440632, 13130513, 26198764, 28991256, 16702973, 30285260, 16023328

Show/Hide Unknown Diseases (10)

Disease term	Disease name	Evidence	References	Source
Unknown
Chronic obstructive pulmonary disease	Chronic Obstructive Airway Disease		25584925	ClinVar
Mental depression	Unipolar Depression, Major Depressive Disorder		16023328	ClinVar
Neurodevelopmental Disorders	neurodevelopmental disorder			GenCC
Parkinson Disease	Parkinson Disease			GWAS
Periodontitis	Periodontitis			GWAS
Lung adenocarcinoma	Lung adenocarcinoma	Validation that loss of Tgfbr2 results in more aggressive and T cell-excluded KP lung tumors		GWAS, CBGDA
Metabolic Syndrome	Metabolic Syndrome			GWAS
Diabetes	Diabetes			GWAS
Insomnia	Insomnia			GWAS
Psoriasis	Psoriasis			GWAS

Show/Hide Text Mining Associations (34)

Disease Name	Relationship Type	References
Associations from Text Mining
Alzheimer Disease	Associate	29885764
Anxiety	Associate	30699873
Autism Spectrum Disorder	Associate	27271353, 35205368
Autonomic Nervous System Diseases	Associate	34994165
Bipolar Disorder	Associate	35667888
Carcinoma	Associate	24718460
Carcinoma Transitional Cell	Associate	31805718
Congenital Abnormalities	Associate	37860969
Developmental Disabilities	Associate	35627244, 37860969
Genu valgum st Helena familial	Associate	32341572
Glioma	Associate	35111846
Hemangioblastoma	Associate	28742274
Hypogonadism	Associate	32341572
Insulin Resistance	Associate	30678306
Intellectual Disability	Associate	35205368
Kidney Neoplasms	Associate	16640776
Melanoma	Associate	25450268, 29706638
Mental Disorders	Associate	35627244
Migraine Disorders	Associate	31842742
Myopia	Associate	28966548
Neoplasms	Associate	24703847, 26949921, 28587194
Neoplasms	Inhibit	35217496
Neuroblastoma	Associate	35217496
Oncocytoma renal	Associate	16640776
Oropharyngeal Neoplasms	Inhibit	26949921
Osteosarcoma	Associate	24703847
Parkinson Disease	Associate	29290481, 34994165
Puberty Delayed	Associate	32341572
Pulmonary Disease Chronic Obstructive	Associate	25584925
Schizophrenia	Associate	27271353
Sleep Deprivation	Inhibit	35217496
Stress Disorders Post Traumatic	Associate	30699873
Thyroid Neoplasms	Associate	24718460
Wilms Tumor	Associate	22544364

DLG2 (discs large MAGUK scaffold protein 2)