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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1742
Gene name	Discs large MAGUK scaffold protein 4
Gene symbol	DLG4
Synonyms (NCBI Gene)	MRD62PSD95SAP-90SAP90
Chromosome	17
Chromosome location	17p13.1
Summary	This gene encodes a member of the membrane-associated guanylate kinase (MAGUK) family. It heteromultimerizes with another MAGUK protein, DLG2, and is recruited into NMDA receptor and potassium channel clusters. These two MAGUK proteins may interact at pos

Show/Hide all (12)

SNP ID	Visualize variation	Clinical significance	Consequence
rs869312859	->A	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant, non coding transcript variant
rs1182894684	G>A,C	Pathogenic	Stop gained, coding sequence variant, missense variant, non coding transcript variant
rs1555522077	G>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1567528092	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1567532079	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1597442444	C>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1597444614	A>G	Likely-pathogenic, pathogenic	Splice donor variant
rs1597451690	A>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1597452702	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1597453595	AGGATAAA>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1597471063	->T	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1597472411	C>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant

Show/Hide all (64)

miRTarBase ID	miRNA	Experiments	Reference
MIRT019881	hsa-miR-375	qRT-PCR;Microarray	20584986
MIRT019881	hsa-miR-375	qRT-PCR;Microarray	20584986
MIRT047670	hsa-miR-10a-5p	CLASH	23622248
MIRT615343	hsa-miR-449b-3p	HITS-CLIP	23824327
MIRT615342	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT615341	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT615343	hsa-miR-449b-3p	HITS-CLIP	23824327
MIRT615342	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT615341	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT938297	hsa-miR-1207-5p	CLIP-seq
MIRT938298	hsa-miR-1291	CLIP-seq
MIRT938299	hsa-miR-1299	CLIP-seq
MIRT938300	hsa-miR-1827	CLIP-seq
MIRT938301	hsa-miR-1972	CLIP-seq
MIRT938302	hsa-miR-3134	CLIP-seq
MIRT938303	hsa-miR-3612	CLIP-seq
MIRT938304	hsa-miR-4436b-3p	CLIP-seq
MIRT938305	hsa-miR-4443	CLIP-seq
MIRT938306	hsa-miR-4534	CLIP-seq
MIRT938307	hsa-miR-4645-5p	CLIP-seq
MIRT938308	hsa-miR-4649-5p	CLIP-seq
MIRT938309	hsa-miR-4673	CLIP-seq
MIRT938310	hsa-miR-4685-5p	CLIP-seq
MIRT938311	hsa-miR-4732-3p	CLIP-seq
MIRT938312	hsa-miR-4763-3p	CLIP-seq
MIRT938313	hsa-miR-4782-5p	CLIP-seq
MIRT938314	hsa-miR-4802-5p	CLIP-seq
MIRT938315	hsa-miR-516b	CLIP-seq
MIRT938316	hsa-miR-617	CLIP-seq
MIRT938317	hsa-miR-650	CLIP-seq
MIRT938318	hsa-miR-875-3p	CLIP-seq
MIRT938319	hsa-miR-940	CLIP-seq
MIRT938320	hsa-miR-1275	CLIP-seq
MIRT938321	hsa-miR-2392	CLIP-seq
MIRT938322	hsa-miR-3605-5p	CLIP-seq
MIRT938323	hsa-miR-3616-3p	CLIP-seq
MIRT938324	hsa-miR-3665	CLIP-seq
MIRT938304	hsa-miR-4436b-3p	CLIP-seq
MIRT938325	hsa-miR-4525	CLIP-seq
MIRT938326	hsa-miR-4665-5p	CLIP-seq
MIRT938327	hsa-miR-4723-5p	CLIP-seq
MIRT938328	hsa-miR-4728-5p	CLIP-seq
MIRT938329	hsa-miR-4736	CLIP-seq
MIRT938330	hsa-miR-625	CLIP-seq
MIRT1977648	hsa-miR-371-5p	CLIP-seq
MIRT1977649	hsa-miR-371b-5p	CLIP-seq
MIRT1977650	hsa-miR-4639-3p	CLIP-seq
MIRT938308	hsa-miR-4649-5p	CLIP-seq
MIRT938297	hsa-miR-1207-5p	CLIP-seq
MIRT2212977	hsa-miR-3190	CLIP-seq
MIRT2212978	hsa-miR-3202	CLIP-seq
MIRT2212979	hsa-miR-3714	CLIP-seq
MIRT2212980	hsa-miR-4488	CLIP-seq
MIRT2212981	hsa-miR-4491	CLIP-seq
MIRT2212982	hsa-miR-4533	CLIP-seq
MIRT2212983	hsa-miR-4657	CLIP-seq
MIRT2212984	hsa-miR-4697-5p	CLIP-seq
MIRT938312	hsa-miR-4763-3p	CLIP-seq
MIRT938319	hsa-miR-940	CLIP-seq
MIRT2386932	hsa-miR-1236	CLIP-seq
MIRT1977650	hsa-miR-4639-3p	CLIP-seq
MIRT2448299	hsa-miR-1915	CLIP-seq
MIRT2448300	hsa-miR-3148	CLIP-seq
MIRT2448301	hsa-miR-4726-3p	CLIP-seq

Show/Hide all (1)

Transcription factor	Regulation	Reference
LMO4	Repression	18424056

112

Show/Hide all (112)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002091	Process	Negative regulation of receptor internalization	ISS
GO:0005515	Function	Protein binding	IPI	7477295, 10433268, 10725395, 10859302, 11937501, 12097473, 12477932, 16767099, 17360663, 19118189, 19243221, 20018661, 20962234, 21653829, 22117215, 23260144, 25780553, 27066583, 30126976, 32814053, 35914814
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005783	Component	Endoplasmic reticulum	ISS
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS
GO:0005912	Component	Adherens junction	NAS	23397623
GO:0007165	Process	Signal transduction	TAS	10364559
GO:0007204	Process	Positive regulation of cytosolic calcium ion concentration	ISS
GO:0007268	Process	Chemical synaptic transmission	IBA
GO:0007268	Process	Chemical synaptic transmission	IEA
GO:0007268	Process	Chemical synaptic transmission	TAS	9853749
GO:0007399	Process	Nervous system development	IBA
GO:0007399	Process	Nervous system development	TAS	9286702
GO:0007612	Process	Learning	TAS	9853749
GO:0008021	Component	Synaptic vesicle	IEA
GO:0008021	Component	Synaptic vesicle	ISS
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:0016188	Process	Synaptic vesicle maturation	IEA
GO:0016188	Process	Synaptic vesicle maturation	ISS
GO:0019900	Function	Kinase binding	IDA	21119615
GO:0019900	Function	Kinase binding	IEA
GO:0019901	Function	Protein kinase binding	IBA
GO:0019903	Function	Protein phosphatase binding	ISS
GO:0030054	Component	Cell junction	IEA
GO:0030054	Component	Cell junction	ISS
GO:0030165	Function	PDZ domain binding	ISS
GO:0030424	Component	Axon	IEA
GO:0030425	Component	Dendrite	IEA
GO:0030666	Component	Endocytic vesicle membrane	TAS
GO:0030674	Function	Protein-macromolecule adaptor activity	ISS
GO:0030863	Component	Cortical cytoskeleton	IDA	12151521
GO:0031594	Component	Neuromuscular junction	IBA
GO:0031594	Component	Neuromuscular junction	IEA
GO:0031697	Function	Beta-1 adrenergic receptor binding	ISS
GO:0031748	Function	D1 dopamine receptor binding	ISS
GO:0031812	Function	P2Y1 nucleotide receptor binding	ISS
GO:0032281	Component	AMPA glutamate receptor complex	IEA
GO:0032281	Component	AMPA glutamate receptor complex	ISS
GO:0032839	Component	Dendrite cytoplasm	ISS
GO:0033130	Function	Acetylcholine receptor binding	ISS
GO:0035176	Process	Social behavior	IEA
GO:0035255	Function	Ionotropic glutamate receptor binding	IBA
GO:0035255	Function	Ionotropic glutamate receptor binding	IEA
GO:0035255	Function	Ionotropic glutamate receptor binding	ISS
GO:0035418	Process	Protein localization to synapse	IBA
GO:0035418	Process	Protein localization to synapse	IDA	15496675
GO:0035418	Process	Protein localization to synapse	IEA
GO:0035418	Process	Protein localization to synapse	IEA
GO:0035641	Process	Locomotory exploration behavior	IEA
GO:0035865	Process	Cellular response to potassium ion	IEA
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:0043197	Component	Dendritic spine	IEA
GO:0043197	Component	Dendritic spine	ISS
GO:0043226	Component	Organelle	IEA
GO:0044224	Component	Juxtaparanode region of axon	IEA
GO:0044224	Component	Juxtaparanode region of axon	ISS
GO:0044300	Component	Cerebellar mossy fiber	IEA
GO:0044306	Component	Neuron projection terminus	IEA
GO:0044306	Component	Neuron projection terminus	ISS
GO:0044309	Component	Neuron spine	IEA
GO:0044309	Component	Neuron spine	ISS
GO:0044877	Function	Protein-containing complex binding	ISS
GO:0045184	Process	Establishment of protein localization	IDA	15496675
GO:0045197	Process	Establishment or maintenance of epithelial cell apical/basal polarity	NAS	23397623
GO:0045202	Component	Synapse	IDA	15496675
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IDA	12151521
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0048169	Process	Regulation of long-term neuronal synaptic plasticity	IEA
GO:0048169	Process	Regulation of long-term neuronal synaptic plasticity	ISS
GO:0050806	Process	Positive regulation of synaptic transmission	IEA
GO:0050806	Process	Positive regulation of synaptic transmission	ISS
GO:0050885	Process	Neuromuscular process controlling balance	IEA
GO:0060076	Component	Excitatory synapse	IEA
GO:0060076	Component	Excitatory synapse	ISS
GO:0060997	Process	Dendritic spine morphogenesis	IEA
GO:0060997	Process	Dendritic spine morphogenesis	ISS
GO:0065003	Process	Protein-containing complex assembly	IDA	15496675
GO:0071625	Process	Vocalization behavior	IEA
GO:0071944	Component	Cell periphery	IEA
GO:0097060	Component	Synaptic membrane	IEA
GO:0097060	Component	Synaptic membrane	ISS
GO:0097109	Function	Neuroligin family protein binding	ISS
GO:0097110	Function	Scaffold protein binding	IEA
GO:0097110	Function	Scaffold protein binding	ISS
GO:0097113	Process	AMPA glutamate receptor clustering	IBA
GO:0097113	Process	AMPA glutamate receptor clustering	ISS
GO:0097113	Process	AMPA glutamate receptor clustering	TAS	19914352
GO:0097120	Process	Receptor localization to synapse	IBA
GO:0097120	Process	Receptor localization to synapse	ISS
GO:0098609	Process	Cell-cell adhesion	IBA
GO:0098793	Component	Presynapse	IEA
GO:0098794	Component	Postsynapse	IEA
GO:0098839	Component	Postsynaptic density membrane	IBA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0098989	Process	NMDA selective glutamate receptor signaling pathway	ISS
GO:0099072	Process	Regulation of postsynaptic membrane neurotransmitter receptor levels	IBA
GO:0099645	Process	Neurotransmitter receptor localization to postsynaptic specialization membrane	IEA
GO:0150012	Process	Positive regulation of neuron projection arborization	ISS
GO:2000463	Process	Positive regulation of excitatory postsynaptic potential	ISS
GO:2000821	Process	Regulation of grooming behavior	IEA

MIM	HGNC	e!Ensembl
602887	2903	ENSG00000132535

P78352

Protein name

Disks large homolog 4 (Postsynaptic density protein 95) (PSD-95) (Synapse-associated protein 90) (SAP-90) (SAP90)

Protein function

Postsynaptic scaffolding protein that plays a critical role in synaptogenesis and synaptic plasticity by providing a platform for the postsynaptic clustering of crucial synaptic proteins. Interacts with the cytoplasmic tail of NMDA receptor subu

PDB

1KEF , 2MES , 3I4W , 3K82 , 3ZRT , 5J7J , 5JXB , 6QJD , 6QJF , 6QJG , 6QJI , 6QJJ , 6QJK , 6QJL , 6QJN , 6SPV , 6SPZ , 8AH4 , 8AH5 , 8AH6 , 8AH7 , 8AH8

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF10608	MAGUK_N_PEST	24 → 64	Polyubiquitination (PEST) N-terminal domain of MAGUK	Domain
PF00595	PDZ	65 → 149	PDZ domain	Domain
PF00595	PDZ	160 → 244	PDZ domain	Domain
PF10600	PDZ_assoc	245 → 312	PDZ-associated domain of NMDA receptors	Domain
PF00595	PDZ	313 → 391	PDZ domain	Domain
PF00018	SH3_1	434 → 490	SH3 domain	Domain
PF00625	Guanylate_kin	533 → 711	Guanylate kinase	Domain

Tissue specificity

TISSUE SPECIFICITY: Brain.

Sequence

MDCLCIVTTKKYRYQDEDTPPLEHSPAHLPNQANSPPVIVNTDTLEAPGYELQVNGTEGE
MEYEEITLERGNSGLGFSIAGGTDNPHIGDDPSIFITKIIPGGAAAQDGRLRVNDSILFV
NEVDVREVTHSAAVEALKEAGSIVRLYVMRRKPPAEKVMEIKLIKGPKGLGFSIAGGVGN
QHIPGDNSIYVTKIIEGGAAHKDGRLQIGDKILAVNSVGLEDVMHEDAVAALKNTYDVVY
LKVAKPSNAYLSDSYAPPDITTSYSQHLDNEISHSSYLGTDYPTAMTPTSPRRYSPVAKD
LLGEEDIPREPRRIVIHRGSTGLGFNIVGGEDGEGIFISFILAGGPADLSGELRKGDQIL
SVNGVDLRNASHEQAAIALKNAGQTVTIIAQYKPEEYSRFEAKIHDLREQLMNSSLGSGT
ASLRSNPKRGFYIRALFDYDKTKDCGFLSQALSFRFGDVLHVIDASDEEWWQARRVHSDS
ETDDIGFIPSKRRVERREWSRLKAKDWGSSSGSQGREDSVLSYETVTQMEVHYARPIIIL
GPTKDRANDDLLSEFPDKFGSCVPHTTRPKREYEIDGRDYHFVSSREKMEKDIQAHKFIE
AGQYNSHLYGTSVQSVREVAEQGKHCILDVSANAVRRLQAAHLHPIAIFIRPRSLENVLE
INKRITEEQARKAFDRATKLEQEFTECFSAIVEGDSFEEIYHKVKRVIEDLSGPYIWVPA
RERL

Sequence length

724

Interactions

View interactions

	KEGG		Reactome
	Hippo signaling pathway Glutamatergic synapse Huntington disease Pathways of neurodegeneration - multiple diseases Cocaine addiction		Trafficking of AMPA receptors Unblocking of NMDA receptors, glutamate binding and activation Activation of Ca-permeable Kainate Receptor RHO GTPases activate CIT RAF/MAP kinase cascade LGI-ADAM interactions Neurexins and neuroligins Synaptic adhesion-like molecules

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 Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cerebral visual impairment and intellectual disability	Likely pathogenic; Pathogenic	rs869312859	RCV000210399	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
DLG4-related disorder	Likely pathogenic; Pathogenic	rs1182894684	RCV003396590	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual developmental disorder 62	Likely pathogenic; Pathogenic	rs1227093654, rs2142821543, rs2142845390, rs2142883774, rs2142884433, rs2142828286, rs2142828228, rs767384318, rs2142888007, rs2142886707, rs2142886687, rs2142886600, rs2142886433, rs2142885916, rs2142885279 View all (58 more)	RCV001527313 RCV001706938 RCV003163811 RCV002272490 RCV001754561 View all (68 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual disability	Pathogenic	rs2142830996	RCV003320253	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Marfanoid habitus and intellectual disability	Likely pathogenic; Pathogenic	rs1597442444, rs1597453595, rs1597444614	RCV000850477 RCV000850478 RCV000850484	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental delay	Pathogenic	rs2142830996, rs2142822298	RCV002274209 RCV002274423	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (27)

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.
Autism spectrum disorder	Uncertain significance	ClinVar CTD	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, HYPERTROPHIC, FAMILIAL	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER	—	ClinGen, GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DLG4-related synaptopathy	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEARING LOSS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOOD DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND IMPAIRED EXPRESSIVE LANGUAGE AND WITH OR WITHOUT SEIZURES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC OVARY SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★★★★ ★★☆☆☆ 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
Uterine corpus endometrial carcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE FIBROID	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Very long chain acyl-CoA dehydrogenase deficiency	Benign	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
VULTO-VAN SILFHOUT-DE VRIES SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WILLIAMS SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
YORIFUJI OKUNO SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

DLG4 (discs large MAGUK scaffold protein 4)