1. Gene
  2. DLG4 - discs large MAGUK scaffold protein 4 Gene

DLG4 - discs large MAGUK scaffold protein 4 Gene

中文名称:圆盘大 MAGUK 支架蛋白 4

种属: Homo sapiens

同用名: MRD62; PSD95; SAP90; SAP-90

基因 ID: 1742 | 基因类型: protein coding

关于 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.


该基因编码膜相关鸟苷酸激酶 (MAGUK) 家族的成员。它与另一种 MAGUK 蛋白 DLG2 异源多聚化,并被募集到 NMDA 受体和钾通道簇中。这两种 MAGUK 蛋白可能在突触后位点相互作用,形成多聚支架,用于受体、离子通道和相关信号蛋白的聚集。已发现该基因编码不同异构体的多个转录变体。[RefSeq 提供,2008 年 7 月]

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 基因产物(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

DLG4 蛋白结构


MAGUK_N_PEST: Polyubiquitination (PEST) N-terminal domain of MAGUK (10 - 32)


MAGUK_N_PEST: Polyubiquitination (PEST) N-terminal domain of MAGUK (31 - 64)


PDZ: PDZ domain (Also known as DHR or GLGF) (65 - 149)


PDZ: PDZ domain (Also known as DHR or GLGF) (161 - 243)


PDZ_assoc: PDZ-associated domain of NMDA receptors (245 - 312)


PDZ: PDZ domain (Also known as DHR or GLGF) (315 - 389)


SH3_1: SH3 domain (434 - 490)


Guanylate_kin: Guanylate kinase (534 - 710)

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  • 724 a.a.
蛋白主名 其他名称

disks large homolog 4

Tax interaction protein 15


疾病名称 别名
Intellectual Developmental Disorder, Autosomal Dominant 62


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


Acadl Deficiency


Long-Chain Acyl-Coa Dehydrogenase Deficiency


Acyl-Coa Dehydrogenase Very Long Chain Deficiency

Very Long-Chain Acyl Coenzyme A Dehydrogenase Deficiency



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


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



X-Linked Intellectual Disability-Gynecomastia-Obesity Syndrome


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


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 With Or Without An Affective Disorder

Schizophrenia 12

Schizophrenia, Susceptibility To


Dementia Praecox

Schizophrenia 1

Autism Spectrum Disorder


Autism Spectrum Disorders

Autistic Continuum

Pervasive Developmental Disorder

Pervasive Development Disorder

Autistic Behavior

Autistic Disorder


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


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



Hair-Pulling Syndrome

Compulsive Hair Plucking

Hair Pulling Disorder

Specific Developmental Disorder
Toxic Encephalopathy


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


Alzheimer Disease, Susceptibility To

Alzheimer Disease, Late-Onset, Susceptibility To

Alzheimer Disease 1, Familial


Familial Alzheimer Disease

Alzheimer Disease, Late-Onset

Alzheimers Dementia

Alzheimer Dementia

Alzheimer Sclerosis

Alzheimer Syndrome

Alzheimer-Type Dementia


Primary Senile Degenerative Dementia


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



Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome


Gene Duplication Disease

Gene Duplication Syndrome


Epilepsy Syndrome

Epileptic Syndrome


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


Amyotrophic Lateral Sclerosis Type 3

Amnestic Disorder


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




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


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




Picks Disease

Syndromic Intellectual Disability
Mental 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



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


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



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



Parkinson Disease, Susceptibility To

Late Onset Parkinson'S Disease

Late Onset Parkinson Disease

Paralysis Agitans

Primary Parkinsonism

Idiopathic Parkinson Disease


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


Attention Deficit Disorder

Attention Deficit-Hyperactivity Disorder, Susceptibility To

Attention Deficit Disorder With Hyperactivity

Hyperkinetic Disorder

Hyperactivity Of Childhood

Attention-Deficit/Hyperactivity Disorder



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


Frontotemporal Lobe Dementia

Multiple System Tauopathy With Presenile Dementia

Dementia, Frontotemporal

Frontotemporal Dementia With Parkinsonism


Frontotemporal Lobar Degeneration With Tau Inclusions

Ftld With Tau Inclusions

Dementia, Frontotemporal, With Parkinsonism



Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex


Wilhelmsen-Lynch Disease



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



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


Lou Gehrig Disease

Amyotrophic Lateral Sclerosis Type 1

Charcot Disease


Amyotrophic Lateral Sclerosis, Susceptibility To


Lou Gehrig'S Disease


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


Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration


Retinitis Pigmentosa Autosomal Recessive


Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

疾病名称 别名
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


种属 基因名 来源 基因 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