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Dlg4 discs large MAGUK scaffold protein 4 [ Mus musculus (house mouse) ]

Gene ID: 13385, updated on 4-Jan-2025

Summary

Official Symbol
Dlg4provided by MGI
Official Full Name
discs large MAGUK scaffold protein 4provided by MGI
Primary source
MGI:MGI:1277959
See related
Ensembl:ENSMUSG00000020886 AllianceGenome:MGI:1277959
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Dlgh4; PSD95; SAP90; PSD-95; SAP90A
Summary
Enables ionotropic glutamate receptor binding activity and scaffold protein binding activity. Involved in several processes, including dendritic spine morphogenesis; locomotory exploration behavior; and neurotransmitter receptor localization to postsynaptic specialization membrane. Acts upstream of or within protein localization to synapse; regulation of long-term neuronal synaptic plasticity; and synaptic vesicle maturation. Located in several cellular components, including axon; postsynaptic density; and synaptic vesicle. Part of AMPA glutamate receptor complex. Is active in glutamatergic synapse. Colocalizes with postsynaptic membrane. Is expressed in central nervous system; dorsal root ganglion; and sensory organ. Used to study Williams-Beuren syndrome and autism spectrum disorder. Human ortholog(s) of this gene implicated in autosomal dominant intellectual developmental disorder. Orthologous to human DLG4 (discs large MAGUK scaffold protein 4). [provided by Alliance of Genome Resources, Jan 2025]
Expression
Biased expression in cortex adult (RPKM 161.9), frontal lobe adult (RPKM 143.5) and 10 other tissues See more
Orthologs
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Genomic context

See Dlg4 in Genome Data Viewer
Location:
11 B3; 11 42.96 cM
Exon count:
27
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (69908029..69938107)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (70017203..70045535)

Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene dishevelled segment polarity protein 2 Neighboring gene acyl-Coenzyme A dehydrogenase, very long chain Neighboring gene microRNA 324 Neighboring gene STARR-positive B cell enhancer ABC_E11483 Neighboring gene STARR-positive B cell enhancer ABC_E1421 Neighboring gene STARR-positive B cell enhancer ABC_E2358 Neighboring gene asialoglycoprotein receptor 1 Neighboring gene predicted gene, 32946

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (4) 
  • Gene trapped (1) 
  • Targeted (15)  1 citation

Pathways from PubChem

Interactions

General gene information

Gene Ontology Provided by MGI

Items 1 - 25 of 34
Function Evidence Code Pubs
enables D1 dopamine receptor binding  
enables D1 dopamine receptor binding  
enables P2Y1 nucleotide receptor binding  
enables P2Y1 nucleotide receptor binding  
enables PDZ domain binding  
enables PDZ domain binding  
enables acetylcholine receptor binding  
enables acetylcholine receptor binding  
enables beta-1 adrenergic receptor binding  
enables beta-1 adrenergic receptor binding  
enables beta-2 adrenergic receptor binding  
enables frizzled binding  
enables glutamate receptor binding  
enables ionotropic glutamate receptor binding  
enables ionotropic glutamate receptor binding PubMed 
enables ionotropic glutamate receptor binding  
enables kinase binding PubMed 
enables kinesin binding  
enables neurexin family protein binding PubMed 
enables neuroligin family protein binding  
enables neuroligin family protein binding  
enables protein binding PubMed 
enables protein binding  
enables protein kinase binding  
enables protein kinase binding  
enables protein phosphatase binding  
enables protein phosphatase binding  
enables protein-containing complex binding  
enables protein-containing complex binding  
enables scaffold protein binding PubMed 
enables scaffold protein binding  
enables signaling receptor binding  
enables structural constituent of postsynaptic density  
enables structural molecule activity PubMed 
Items 1 - 25 of 34
Items 1 - 25 of 51
Process Evidence Code Pubs
involved_in AMPA glutamate receptor clustering  
involved_in AMPA glutamate receptor clustering  
involved_in AMPA glutamate receptor clustering  
involved_in NMDA selective glutamate receptor signaling pathway  
involved_in cell-cell adhesion  
involved_in cellular response to potassium ion PubMed 
involved_in chemical synaptic transmission  
involved_in chemical synaptic transmission  
involved_in dendritic spine morphogenesis PubMed 
involved_in dendritic spine morphogenesis  
involved_in dendritic spine organization  
involved_in establishment of protein localization  
involved_in establishment of protein localization  
involved_in locomotory behavior PubMed 
involved_in locomotory exploration behavior PubMed 
involved_in negative regulation of receptor internalization  
involved_in negative regulation of receptor internalization  
involved_in nervous system development  
involved_in neuromuscular process controlling balance PubMed 
involved_in neurotransmitter receptor localization to postsynaptic specialization membrane PubMed 
involved_in neurotransmitter receptor localization to postsynaptic specialization membrane PubMed 
involved_in neurotransmitter receptor localization to postsynaptic specialization membrane PubMed 
involved_in positive regulation of AMPA glutamate receptor clustering  
involved_in positive regulation of cytosolic calcium ion concentration  
involved_in positive regulation of cytosolic calcium ion concentration  
involved_in positive regulation of dendrite morphogenesis  
involved_in positive regulation of excitatory postsynaptic potential  
involved_in positive regulation of excitatory postsynaptic potential  
involved_in positive regulation of neuron projection arborization  
involved_in positive regulation of synapse assembly  
involved_in positive regulation of synaptic transmission  
involved_in positive regulation of synaptic transmission  
involved_in postsynaptic neurotransmitter receptor diffusion trapping  
involved_in postsynaptic neurotransmitter receptor diffusion trapping  
involved_in protein localization to synapse  
acts_upstream_of_or_within protein localization to synapse PubMed 
involved_in protein localization to synapse  
involved_in protein localization to synapse  
involved_in protein-containing complex assembly  
involved_in protein-containing complex assembly  
involved_in receptor localization to synapse  
involved_in receptor localization to synapse  
involved_in regulation of grooming behavior PubMed 
acts_upstream_of_or_within regulation of long-term neuronal synaptic plasticity PubMed 
involved_in regulation of neuronal synaptic plasticity  
involved_in regulation of neuronal synaptic plasticity PubMed 
involved_in response to cocaine PubMed 
involved_in social behavior PubMed 
acts_upstream_of_or_within synaptic vesicle maturation PubMed 
acts_upstream_of_or_within synaptic vesicle maturation PubMed 
involved_in vocalization behavior PubMed 
Items 1 - 25 of 51
Items 1 - 20 of 52
Component Evidence Code Pubs
part_of AMPA glutamate receptor complex PubMed 
located_in cell junction PubMed 
located_in cell periphery PubMed 
located_in cell-cell junction  
located_in cerebellar mossy fiber PubMed 
located_in cortical cytoskeleton  
located_in cortical cytoskeleton  
located_in cytoplasm PubMed 
located_in dendrite PubMed 
located_in dendrite  
located_in dendrite cytoplasm  
located_in dendrite cytoplasm  
located_in dendritic branch  
located_in dendritic spine PubMed 
located_in dendritic spine  
located_in endoplasmic reticulum PubMed 
located_in excitatory synapse PubMed 
located_in excitatory synapse  
is_active_in glutamatergic synapse PubMed 
located_in glutamatergic synapse PubMed 
is_active_in glutamatergic synapse PubMed 
is_active_in glutamatergic synapse PubMed 
is_active_in glutamatergic synapse  
located_in juxtaparanode region of axon PubMed 
located_in juxtaparanode region of axon  
located_in membrane PubMed 
located_in membrane  
is_active_in neuromuscular junction  
located_in neuromuscular junction  
is_active_in neuron projection  
located_in neuron projection terminus PubMed 
located_in neuron spine PubMed 
located_in plasma membrane PubMed 
located_in plasma membrane  
located_in plasma membrane  
located_in postsynapse PubMed 
located_in postsynaptic density PubMed 
located_in postsynaptic density PubMed 
located_in postsynaptic density  
is_active_in postsynaptic density membrane  
is_active_in postsynaptic density membrane  
colocalizes_with postsynaptic membrane PubMed 
located_in postsynaptic membrane  
located_in proximal dendrite  
located_in synapse PubMed 
located_in synapse PubMed 
located_in synapse PubMed 
located_in synaptic membrane PubMed 
located_in synaptic membrane  
located_in synaptic vesicle PubMed 
part_of voltage-gated potassium channel complex  
part_of voltage-gated potassium channel complex  
Items 1 - 20 of 52

General protein information

Preferred Names
disks large homolog 4
Names
PSD-95 alpha 2b
PSD-95 beta
SAP-90
discs large homolog 4
discs, large homolog 4
postsynaptic density protein 95
synapse-associated protein 90

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001109752.1NP_001103222.1  disks large homolog 4 isoform 2

    See identical proteins and their annotated locations for NP_001103222.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains an alternate 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 6. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 6.
    Source sequence(s)
    BC014807, BQ959940, CA320223
    Consensus CDS
    CCDS48829.1
    UniProtKB/TrEMBL
    G3UZL5
    Related
    ENSMUSP00000156345.2, ENSMUST00000231415.2
    Conserved Domains (7) summary
    cd12030
    Location:427492
    SH3_DLG4; Src Homology 3 domain of Disks Large homolog 4
    smart00072
    Location:541707
    GuKc; Guanylate kinase homologues
    smart00228
    Location:307391
    PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
    pfam00595
    Location:62146
    PDZ; PDZ domain (Also known as DHR or GLGF)
    pfam00625
    Location:530708
    Guanylate_kin; Guanylate kinase
    pfam10600
    Location:242309
    PDZ_assoc; PDZ-associated domain of NMDA receptors
    pfam10608
    Location:1061
    MAGUK_N_PEST; Polyubiquitination (PEST) N-terminal domain of MAGUK
  2. NM_001370671.1NP_001357600.1  disks large homolog 4 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AL596185
    UniProtKB/TrEMBL
    G3UZL5
    Conserved Domains (6) summary
    cd12030
    Location:435500
    SH3_DLG4; Src Homology 3 domain of Disks Large homolog 4
    smart00228
    Location:315399
    PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
    pfam00625
    Location:538716
    Guanylate_kin; Guanylate kinase
    pfam10600
    Location:250317
    PDZ_assoc; PDZ-associated domain of NMDA receptors
    pfam00595
    Location:70154
    PDZ; PDZ domain (Also known as DHR or GLGF)
    pfam10608
    Location:1969
    MAGUK_N_PEST; Polyubiquitination (PEST) N-terminal domain of MAGUK
  3. NM_001370672.1NP_001357601.1  disks large homolog 4 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AL596185
    Consensus CDS
    CCDS88179.1
    UniProtKB/TrEMBL
    A0A338P6E5, G3UZL5
    Conserved Domains (5) summary
    cd12030
    Location:370435
    SH3_DLG4; Src Homology 3 domain of Disks Large homolog 4
    smart00228
    Location:250334
    PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
    pfam00595
    Location:589
    PDZ; PDZ domain (Also known as DHR or GLGF)
    pfam00625
    Location:473651
    Guanylate_kin; Guanylate kinase
    pfam10600
    Location:185252
    PDZ_assoc; PDZ-associated domain of NMDA receptors
  4. NM_001370674.1NP_001357603.1  disks large homolog 4 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AL596185
    UniProtKB/TrEMBL
    G3UZL5
    Conserved Domains (6) summary
    cd12030
    Location:406471
    SH3_DLG4; Src Homology 3 domain of Disks Large homolog 4
    smart00228
    Location:286370
    PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
    pfam00625
    Location:509687
    Guanylate_kin; Guanylate kinase
    pfam10600
    Location:221288
    PDZ_assoc; PDZ-associated domain of NMDA receptors
    pfam00595
    Location:41125
    PDZ; PDZ domain (Also known as DHR or GLGF)
    pfam10608
    Location:1040
    MAGUK_N_PEST; Polyubiquitination (PEST) N-terminal domain of MAGUK
  5. NM_001370675.1NP_001357604.1  disks large homolog 4 isoform 6

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) encodes the longest isoform (6)
    Source sequence(s)
    AL596185
    Consensus CDS
    CCDS88178.1
    UniProtKB/TrEMBL
    A0A338P6I6, G3UZL5
    Related
    ENSMUSP00000155973.2, ENSMUST00000231506.2
    Conserved Domains (7) summary
    cd12030
    Location:470535
    SH3_DLG4; Src Homology 3 domain of Disks Large homolog 4
    smart00228
    Location:350434
    PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
    pfam00625
    Location:573751
    Guanylate_kin; Guanylate kinase
    pfam10600
    Location:285352
    PDZ_assoc; PDZ-associated domain of NMDA receptors
    pfam00595
    Location:105189
    PDZ; PDZ domain (Also known as DHR or GLGF)
    pfam10608
    Location:54104
    MAGUK_N_PEST; Polyubiquitination (PEST) N-terminal domain of MAGUK
    cl02672
    Location:2647
    L27; L27 domain
  6. NM_001430918.1NP_001417847.1  disks large homolog 4 isoform 7

    Status: VALIDATED

    Source sequence(s)
    AL596185
    UniProtKB/TrEMBL
    G3UZL5
  7. NM_007864.3NP_031890.1  disks large homolog 4 isoform 1

    See identical proteins and their annotated locations for NP_031890.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) contains an alternate 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 6. The encoded isoform (1) has a distinct N-terminus and is shorter than isoform 6.
    Source sequence(s)
    BC014807, BI738861, BQ959940, CA320223
    Consensus CDS
    CCDS36202.1
    UniProtKB/Swiss-Prot
    Q5NCV5, Q5NCV6, Q5NCV7, Q62108, Q91WJ1
    UniProtKB/TrEMBL
    G3UZL5
    Related
    ENSMUSP00000104229.3, ENSMUST00000108588.9
    Conserved Domains (7) summary
    cd12030
    Location:430495
    SH3_DLG4; Src Homology 3 domain of Disks Large homolog 4
    smart00072
    Location:544710
    GuKc; Guanylate kinase homologues
    smart00228
    Location:310394
    PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
    pfam00595
    Location:65149
    PDZ; PDZ domain (Also known as DHR or GLGF)
    pfam00625
    Location:533711
    Guanylate_kin; Guanylate kinase
    pfam10600
    Location:245312
    PDZ_assoc; PDZ-associated domain of NMDA receptors
    pfam10608
    Location:1064
    MAGUK_N_PEST; Polyubiquitination (PEST) N-terminal domain of MAGUK

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000077.7 Reference GRCm39 C57BL/6J

    Range
    69908029..69938107
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_036156285.1XP_036012178.1  disks large homolog 4 isoform X1

    UniProtKB/TrEMBL
    G3UZL5
    Conserved Domains (6) summary
    cd12030
    Location:463528
    SH3_DLG4; Src Homology 3 domain of Disks Large homolog 4
    smart00228
    Location:343427
    PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
    pfam00595
    Location:98182
    PDZ; PDZ domain (Also known as DHR or GLGF)
    pfam00625
    Location:566744
    Guanylate_kin; Guanylate kinase
    pfam10600
    Location:278345
    PDZ_assoc; PDZ-associated domain of NMDA receptors
    pfam10608
    Location:1097
    MAGUK_N_PEST; Polyubiquitination (PEST) N-terminal domain of MAGUK
  2. XM_006532144.3XP_006532207.1  disks large homolog 4 isoform X2

    See identical proteins and their annotated locations for XP_006532207.1

    UniProtKB/TrEMBL
    G3UZL5
    Conserved Domains (6) summary
    cd12030
    Location:460525
    SH3_DLG4; Src Homology 3 domain of Disks Large homolog 4
    smart00228
    Location:340424
    PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
    pfam00595
    Location:95179
    PDZ; PDZ domain (Also known as DHR or GLGF)
    pfam00625
    Location:563741
    Guanylate_kin; Guanylate kinase
    pfam10600
    Location:275342
    PDZ_assoc; PDZ-associated domain of NMDA receptors
    pfam10608
    Location:1094
    MAGUK_N_PEST; Polyubiquitination (PEST) N-terminal domain of MAGUK
  3. XM_006532148.3XP_006532211.1  disks large homolog 4 isoform X4

    See identical proteins and their annotated locations for XP_006532211.1

    UniProtKB/TrEMBL
    G3UZL5
    Conserved Domains (6) summary
    cd12030
    Location:408473
    SH3_DLG4; Src Homology 3 domain of Disks Large homolog 4
    smart00228
    Location:288372
    PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
    pfam00595
    Location:43127
    PDZ; PDZ domain (Also known as DHR or GLGF)
    pfam00625
    Location:511689
    Guanylate_kin; Guanylate kinase
    pfam10600
    Location:223290
    PDZ_assoc; PDZ-associated domain of NMDA receptors
    pfam10608
    Location:1142
    MAGUK_N_PEST; Polyubiquitination (PEST) N-terminal domain of MAGUK
  4. XM_006532150.3XP_006532213.1  disks large homolog 4 isoform X5

    Conserved Domains (6) summary
    cd12030
    Location:405470
    SH3_DLG4; Src Homology 3 domain of Disks Large homolog 4
    smart00228
    Location:285369
    PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
    pfam00595
    Location:40124
    PDZ; PDZ domain (Also known as DHR or GLGF)
    pfam00625
    Location:508686
    Guanylate_kin; Guanylate kinase
    pfam10600
    Location:220287
    PDZ_assoc; PDZ-associated domain of NMDA receptors
    pfam10608
    Location:1139
    MAGUK_N_PEST; Polyubiquitination (PEST) N-terminal domain of MAGUK
  5. XM_036156286.1XP_036012179.1  disks large homolog 4 isoform X6

    UniProtKB/TrEMBL
    A0A338P6E5, G3UZL5
    Related
    ENSMUSP00000018700.8, ENSMUST00000018700.14
    Conserved Domains (5) summary
    cd12030
    Location:370435
    SH3_DLG4; Src Homology 3 domain of Disks Large homolog 4
    smart00228
    Location:250334
    PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
    pfam00595
    Location:589
    PDZ; PDZ domain (Also known as DHR or GLGF)
    pfam00625
    Location:473651
    Guanylate_kin; Guanylate kinase
    pfam10600
    Location:185252
    PDZ_assoc; PDZ-associated domain of NMDA receptors
  6. XM_006532147.5XP_006532210.3  disks large homolog 4 isoform X3

    UniProtKB/TrEMBL
    G3UZL5
    Conserved Domains (6) summary
    cd12030
    Location:409474
    SH3_DLG4; Src Homology 3 domain of Disks Large homolog 4
    smart00228
    Location:289373
    PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
    cd00992
    Location:44127
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    pfam00625
    Location:512690
    Guanylate_kin; Guanylate kinase
    pfam10600
    Location:224291
    PDZ_assoc; PDZ-associated domain of NMDA receptors
    pfam10608
    Location:843
    MAGUK_N_PEST; Polyubiquitination (PEST) N-terminal domain of MAGUK

RNA

  1. XR_001779872.2 RNA Sequence

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