DLG4 - discs large MAGUK scaffold protein 4 Gene

Also Known as MRD62; PSD95; SAP90; SAP-90

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1742

About DLG4

Cytogenetic location: 17p13.1 Genomic coordinates (GRCh38): 17:7,187,187-7,220,050 (from NCBI)

This gene has 24 transcripts (splice variants), 275 orthologues, 3 paralogues and is associated with 3 phenotypes. Broad expression in brain (RPKM 34.6), testis (RPKM 6.2) and 17 other tissues.

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 postsynaptic sites to form a multimeric scaffold for the clustering of receptors, ion channels, and associated signaling proteins. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

DLG4 Products (7)

mRNA	Protein	Name
NM_001128827.4	NP_001122299.1	disks large homolog 4 isoform 2
NM_001321074.1	NP_001308003.1	disks large homolog 4 isoform 3 precursor
NM_001321075.3	NP_001308004.1	disks large homolog 4 isoform 4
NM_001321076.3	NP_001308005.1	disks large homolog 4 isoform 5
NM_001321077.3	NP_001308006.1	disks large homolog 4 isoform 5
NM_001365.4	NP_001356.1	disks large homolog 4 isoform 1 precursor
NM_001369566.3	NP_001356495.1	disks large homolog 4 isoform 6

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables kinase binding	IDA IDA: Inferred from direct assay	21119615	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	7477295	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in establishment of protein localization	IDA IDA: Inferred from direct assay	15496675	GOA
involved in protein localization to synapse	IDA IDA: Inferred from direct assay	15496675	GOA
involved in protein-containing complex assembly	IDA IDA: Inferred from direct assay	15496675	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cortical cytoskeleton	IDA IDA: Inferred from direct assay	12151521	GOA
located in postsynaptic membrane	IDA IDA: Inferred from direct assay	12151521	GOA
located in synapse	IDA IDA: Inferred from direct assay	15496675	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DLG4 Protein Structure

MAGUK_N_PEST

PDZ

PDZ_assoc

PDZ

SH3_1

Guanylate_kin

0
200
400
600
724 a.a.

Protein Preferred Names	Protein Names
disks large homolog 4	Tax interaction protein 15

DLG4 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	DLG4	P78352	LRP1	Homo sapiens	Q07954	Anti Bait CoIP	17360663
Intra	DLG4	P78352	DLGAP1	Homo sapiens	O14490	FPS	22117215
Intra	DLG4	P78352	GRIN2B	Homo sapiens	Q13224	ELISA	11937501
Intra	DLG4	P78352	GRIN2B	Homo sapiens	Q13224	FPS	11937501
Intra	DLG4	P78352	GRIN2B	Homo sapiens	Q13224	Y2H	35914814
Intra	DLG4	P78352	GRIN2B	Homo sapiens	Q13224	FPS	20018661
Intra	DLG4	P78352	SIPA1L1	Homo sapiens	O43166	FPS	22117215
Intra	DLG4	P78352	MDM2	Homo sapiens	Q00987	Pull Down	23260144
Intra	DLG4	P78352	KIF1B	Homo sapiens	O60333-3	Pull Down	12097473
Intra	DLG4	P78352	KIF1B	Homo sapiens	O60333-3	Y2H	12097473
Intra	DLG4	P78352	KCNA4	Homo sapiens	P22459	ELISA	11937501
Intra	DLG4	P78352	KCNA4	Homo sapiens	P22459	FPS	11937501
Intra	DLG4	P78352	GRIN2A	Homo sapiens	Q12879	FPS	11937501
Intra	DLG4	P78352	GRIN2A	Homo sapiens	Q12879	Anti Bait CoIP	17360663
Intra	DLG4	P78352	RALBP1	Homo sapiens	Q15311	P8 Filamentous Phage	30126976
Cross	DLG4	P78352	Gpsm2	Mus musculus	Q8VDU0	FPS	22117215
Intra	DLG4	P78352	ERBB4	Homo sapiens	Q15303	Anti Bait CoIP	10725395
Intra	DLG4	P78352	ERBB4	Homo sapiens	Q15303	Anti Bait CoIP	16767099
Intra	DLG4	P78352	ERBB4	Homo sapiens	Q15303	Y2H	10725395
Intra	DLG4	P78352	GRIN2C	Homo sapiens	Q14957	FPS	11937501
Intra	DLG4	P78352	KCNA1	Homo sapiens	Q09470	ELISA	11937501
Intra	DLG4	P78352	CRIPT	Homo sapiens	Q9P021	FPS	20018661
Intra	DLG4	P78352	CRIPT	Homo sapiens	Q9P021	ELISA	11937501
Intra	DLG4	P78352	CRIPT	Homo sapiens	Q9P021	FPS	11937501
Cross	DLG4	P78352	Dlgap1	Rattus norvegicus	P97836-5	Anti Bait CoIP	10433268
Cross	DLG4	P78352	Kcna4	Rattus norvegicus	P15385	Y2H	7477295
Cross	DLG4	P78352	Kcna4	Rattus norvegicus	P15385	IF	7477295
Cross	DLG4	P78352	Kcna4	Rattus norvegicus	P15385	Y2H	10433268
Cross	DLG4	P78352	Kcna4	Rattus norvegicus	P15385	Far-WB	7477295
Cross	DLG4	P78352	Kcna1	Rattus norvegicus	P10499	Far-WB	7477295
Cross	DLG4	P78352	Kcna1	Rattus norvegicus	P10499	Y2H	7477295
Cross	DLG4	P78352	Kcna3	Rattus norvegicus	P15384	Far-WB	7477295
Cross	DLG4	P78352	Kcna3	Rattus norvegicus	P15384	Y2H	7477295

Cross: Cross-species interaction Intra: Intraspecies interaction

DLG4 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P80285	PSD95 Antibody (YA120)	WB, ICC/IF, IHC-P, FC, IP	Human, Mouse, Rat
HY-P84437	PSD95 Antibody (YA4134)	WB, IHC-P, FC, ELISA	Human, Mouse, Rat
HY-P84437A	PSD95 Antibody (YA4134)(PBS only)	WB, IHC-P, FC, ELISA	Human, Mouse, Rat
HY-P86390	PSD95 Antibody (YA6082)	WB, IHC-P, ICC/IF, IP, ELISA	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Intellectual Developmental Disorder, Autosomal Dominant 62	MRD62 Mental Retardation, Autosomal Dominant 62
Non-Specific Syndromic Intellectual Disability	Complex Neurodevelopmental Disorder
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Vlcad Deficiency Very Long Chain Acyl-Coa Dehydrogenase Deficiency Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency Lcad Deficiency Very Long-Chain Acyl-Coa Dehydrogenase Deficiency Long Chain Acyl-Coa Dehydrogenase Deficiency ACADVLD Acadl Deficiency Vlcadd Long-Chain Acyl-Coa Dehydrogenase Deficiency Acadvl Acyl-Coa Dehydrogenase Very Long Chain Deficiency Very Long-Chain Acyl Coenzyme A Dehydrogenase Deficiency Vlcad-C Vlcad-H Acyl-Coa Dehydrogenase, Very Long Chain, Deficiency Of Acyl-Coa Dehydrogenase Very Long-Chain Deficiency Acyl-Coa Dehydrogenase Long-Chain Deficiency Deficiency, Very Long Chain Acyl-Coa Dehydrogenase Long Chain/Very Long Chain Acyl Coa Dehydrogenase Deficiency
Fragile X Syndrome	FXS Martin-Bell Syndrome Fraxa Syndrome Marker X Syndrome X-Linked Mental Retardation And Macroorchidism Fragile X Mental Retardation Syndrome Fra Syndrome Mental Retardation, X-Linked, Associated With Marxq28 X-Linked Intellectual Disability And Macroorchidism Frax Syndrome Symptomatic Form Of Fragile X Syndrome In Female Carriers Fragile-X Syndrome Fraxe Syndrome
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type	Wilson-Turner Syndrome WTS Mrxs6 X-Linked Intellectual Disability-Gynecomastia-Obesity Syndrome Mrxswt Wilson-Turner X-Linked Mental Retardation Syndrome Mental Retardation, X-Linked, Syndromic 6 Mental Retardation, X-Linked, With Gynecomastia And Obesity Intellectual Disability, X-Linked, Syndromic 6 Intellectual Disability, X-Linked, With Gynecomastia And Obesity Wilson Turner Intellectual Disability Syndrome X-Linked Intellectual Disability - Gynecomastia - Obesity
Retinitis Pigmentosa 55	RP55 Retinitis Pigmentosa, Type 55
Bipolar Disorder	Bipolar Depression Manic Disorder Depression, Bipolar Bipolar Disorder Manic Phase Depressive-Manic Psych. Manic Bipolar Affective Disorder Manic Bipolar I Disorder Manic Depression Manic Depressive Disorder Mixed Bipolar Disorder Bipolar Affective Disorder Bipolar Affective Psychosis Bipolar Spectrum Disorder Manic Depressive Illness Depression Bipolar Bipolar Disorder, Mixed Major Affective Disorder Major Affective Disorder 1 Major Affective Disorder 2
Schizophrenia	SCZD Schizophrenia With Or Without An Affective Disorder Schizophrenia 12 Schizophrenia, Susceptibility To Schizophrenia-1 Dementia Praecox Schizophrenia 1
Autism Spectrum Disorder	Asd Autism Spectrum Disorders Autistic Continuum Pervasive Developmental Disorder Pervasive Development Disorder Autistic Behavior Autistic Disorder Autistic Autistic Disorder Of Childhood Onset Infantile Autism Childhood Autism Kanner Syndrome Pervasive Developmental Delay Nos Pervasive Developmental Disorder, Not Otherwise Specified
Diabetic Encephalopathy
Phelan-Mcdermid Syndrome	Chromosome 22q13.3 Deletion Syndrome 22q13.3 Deletion Syndrome Telomeric 22q13 Monosomy Syndrome PHMDS Deletion 22q13 Syndrome 22q13.3 Deletion Deletion 22q13.3 Syndrome Monosomy 22q13 Monosomy 22q13.3 22q13 Deletion Syndrome Monosomy 22q13 Syndrome 22q13 Deletion Chromosome Deletion
Trichotillomania	TTM Hair-Pulling Syndrome Compulsive Hair Plucking Hair Pulling Disorder
Specific Developmental Disorder
Toxic Encephalopathy	Neurotoxicity Neurotoxicity Syndromes Neurotoxicity Syndrome Encephalopathy, Toxic
Pervasive Developmental Disorder	Pervasive Development Disorder Pervasive Developmental Disorders Pervasive Child Development Disorders Autistic Behavior Autism Spectrum Disorders
Syndromic X-Linked Intellectual Disability	X-Linked Syndromic Intellectual Disability
Alzheimer Disease, Familial, 1	Alzheimer Disease Alzheimer'S Disease Presenile And Senile Dementia AD1 Alzheimer Disease, Susceptibility To Alzheimer Disease, Late-Onset, Susceptibility To Alzheimer Disease 1, Familial AD Familial Alzheimer Disease Alzheimer Disease, Late-Onset Alzheimers Dementia Alzheimer Dementia Alzheimer Sclerosis Alzheimer Syndrome Alzheimer-Type Dementia Dat Primary Senile Degenerative Dementia Sdat Alzheimer Disease 1 Autosomal Dominant Alzheimer Disease Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy Late Onset Alzheimer Disease Alzheimers Disease Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy Late-Onset Alzheimers Disease Alzheimer'S Disease Pathway Kegg Dementia Due To Alzheimer'S Disease Alzheimer Disease Type 1 Alzheimers
Autism	Autistic Disorder Autism Susceptibility 1 Childhood Autism Autistic Disorder Of Childhood Onset Infantile Autism Kanner'S Syndrome Autistic
Gene Duplication Disease	Gene Duplication Syndrome
Epilepsy	Epilepsy Syndrome Epileptic Syndrome Epilepsies Symptomatic Epilepsies Post Traumatic Epilepsy Traumatic Epilepsy Traumatic Epileptic Epilepsy Due To Hippocampal Sclerosis Epilepsy With Ammon'S Horn Sclerosis Epilepsy Due To Cortical Dysplasia Epilepsy Due To Neuronal Migration Disorders
Amyotrophic Lateral Sclerosis 3	ALS3 Amyotrophic Lateral Sclerosis Type 3
Amnestic Disorder	Amnesia Amnestic Syndrome Korsakoff'S Psychosis Or Syndrome Amnesic Syndrome Amnestic Disorder In Conditions Classified Elsewhere Korsakoff Psychosis Or Syndrome, Nonalcoholic Nonalcoholic Organic Amnesic Syndrome Organic Amnesic Syndrome
Disease Of Mental Health	Mental Health Mental Disorders
Epilepsy, Familial Temporal Lobe, 1	ETL1 Adpeaf Adlte Epilepsy, Partial, With Auditory Features Autosomal Dominant Partial Epilepsy With Auditory Features Epilepsy, Lateral Temporal Lobe, Autosomal Dominant Familial Temporal Lobe Epilepsy 1 Partial Epilepsy With Auditory Features Autosomal Dominant Lateral Temporal Lobe Epilepsy Lateral Temporal Lobe Epilepsy Autosomal Dominant Epilepsy, Temporal Lobe, Familial, Type 1
Mild Cognitive Impairment
Psychotic Disorder	Psychotic Disorders Mental Or Behavioural Disorder Psychotic Mental Disorders
Pick Disease Of Brain	Pick Disease Pick'S Disease Pick Disease Of The Brain Lobar Atrophy Of Brain Dementia With Lobar Atrophy And Neuronal Cytoplasmic Inclusions Behavioral Variant Of Frontotemporal Dementia Dementia In Pick'S Disease Lobar Atrophy Of The Brain Bvftd Bv-Ftd PIDB Picks Disease
Syndromic Intellectual Disability
Mental Depression	Depression Depressive Disorder
Learning Disability	Learning Disabilities Learning Disorders Academic Skill Disorder Learning Disorder
Chromosomal Duplication Syndrome
Major Depressive Disorder	Seasonal Affective Disorder Unipolar Depression Depression MDD Depressive Disorder Unipolar Depression, Susceptibility To Major Depressive Disorder 1 Major Depressive Disorder, Response To Citalopram Therapy In Major Depressive Disorder 2 Winter Depression Single Major Depressive Episode Sad Clinical Depression Major Depression Depressive Syndrome Major Depressive Disorder And Accelerated Response To Antidepressant Drug Treatment Seasonal Affective Disorder, Susceptibility To Recurrent Major Depression Affective Disorder, Seasonal Depression In A Seasonal Pattern Depression Seasonal Major Depressive Disorder With A Seasonal Pattern Seasonal Depression Seasonal Mood Disorder Mental Depression Recurrent Major Depressive Episodes
Parkinson Disease, Late-Onset	Parkinson Disease Parkinson'S Disease PD PARK Parkinson Disease, Susceptibility To Late Onset Parkinson'S Disease Late Onset Parkinson Disease Paralysis Agitans Primary Parkinsonism Idiopathic Parkinson Disease Parkinson'S Parkinson Disease, Late-Onset, Susceptibility To Parkinson Disease, Age Of Onset, Modifier Lewy Body Parkinson Disease Idiopathic Parkinson'S Disease Pd - [Parkinson Disease] Parkinson Disease Nos Parkinson, Nos Primary Parkinson Disease
Chromosomal Disease	Chromosomal Disorders Congenital Chromosomal Disease
Attention Deficit-Hyperactivity Disorder	Attention Deficit Hyperactivity Disorder ADHD Attention Deficit Disorder Attention Deficit-Hyperactivity Disorder, Susceptibility To Attention Deficit Disorder With Hyperactivity Hyperkinetic Disorder Hyperactivity Of Childhood Attention-Deficit/Hyperactivity Disorder Add Addh Attention Deficit Attention Deficit Disorder Of Childhood With Hyperactivity Attention Deficit Disorder With Hyperactivity Syndrome Hyperkinetic Syndrome Attention-Deficit Hyperactivity Disorder Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type Disturbance Of Activity And Attention Disorder Of Activity And Attention Adhd - [Attention Deficit Hyperactivity Disorder] Hyperkinetic Disorders Disorder Of Activity And Attention With Hyperkinesia Attention Deficit Syndrome With Hyperactivity
Frontotemporal Dementia	Pallidopontonigral Degeneration Frontotemporal Lobar Degeneration Semantic Dementia FTD Frontotemporal Lobe Dementia Multiple System Tauopathy With Presenile Dementia Dementia, Frontotemporal Frontotemporal Dementia With Parkinsonism Mstd Frontotemporal Lobar Degeneration With Tau Inclusions Ftld With Tau Inclusions Dementia, Frontotemporal, With Parkinsonism Fldem Ftdp17 Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex Ddpac Wilhelmsen-Lynch Disease Wld Ppnd Dementia, Frontotemporal, With Or Without Parkinsonism Semantic Primary Progressive Aphasia Semantic Variant Ppa Wilhemsen-Lynch Disease Frontotemporal Dementia-Amyotrophic Lateral Sclerosis Frontotemporal Dementia And Parkinsonism Linked To Chromosome 17 Ftd-Als Ftld Pick Complex Pick Disease Of The Brain Frontotemporal Dementia With Parkinsonism-17 Grn-Related Frontotemporal Dementia Frontotemporal Dementia With Motor Neuron Disease Dementia In Fronto-Temporal Lobar Degeneration Ftd - [Frontotemporal Dementia] Temple Dementia Frontal Lobe Dementia
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder
Amyotrophic Lateral Sclerosis 1	Amyotrophic Lateral Sclerosis ALS Lou Gehrig Disease Amyotrophic Lateral Sclerosis Type 1 Charcot Disease ALS1 Amyotrophic Lateral Sclerosis, Susceptibility To Fals Lou Gehrig'S Disease Mnd Motor Neuron Disease Familial Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis 1, Familial Amyotrophic Lateral Sclerosis 1, Autosomal Dominant Motor Neuron Disease, Bulbar Motor Neurone Disease Amyotrophic Lateral Sclerosis With Dementia Dementia With Amyotrophic Lateral Sclerosis Motor Neuron Disease, Amyotrophic Lateral Sclerosis Sclerosis, Lateral, Amyotrophic Sclerosis, Lateral, Amyotrophic, Type 1 Amyotrophic Sclerosis Als - [Amyotrophic Lateral Sclerosis] Wasting Palsy Amyotrophic Paralysis Amyotrophy Lateral Sclerosis Wasting Paralysis Spinal Progressive Amyotrophy Progressive Atrophic Paralysis
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder
Non-Syndromic X-Linked Intellectual Disability	X-Linked Non-Syndromic Intellectual Disability Non-Specific X-Linked Mental Retardation X-Linked Non-Specific Intellectual Disability
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03799	DLG4 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS07700	LLGL1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22138	Dlg4 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	DLG4	RGD	RGD:68424
Macaca mulatta	DLG4	VGNC	VGNC:71920
Bos taurus	DLG4	VGNC	VGNC:28086
Canis familiaris	DLG4	VGNC	VGNC:106596
Felis catus	DLG4	VGNC	VGNC:61512
Mus musculus	DLG4	MGD	MGI:1277959
Others	DLG4	NCBI