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    DLG4 discs large MAGUK scaffold protein 4 [ Homo sapiens (human) ]

    Gene ID: 1742, updated on 5-Jan-2025

    Summary

    Official Symbol
    DLG4provided by HGNC
    Official Full Name
    discs large MAGUK scaffold protein 4provided by HGNC
    Primary source
    HGNC:HGNC:2903
    See related
    Ensembl:ENSG00000132535 MIM:602887; AllianceGenome:HGNC:2903
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MRD62; PSD95; SAP90; SAP-90
    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]
    Expression
    Broad expression in brain (RPKM 34.6), testis (RPKM 6.2) and 17 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See DLG4 in Genome Data Viewer
    Location:
    17p13.1
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (7187187..7220050, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (7088092..7120961, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (7090506..7123369, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903910 Neighboring gene Sharpr-MPRA regulatory region 10830 Neighboring gene uncharacterized LOC124903911 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:7077401-7078117 Neighboring gene asialoglycoprotein receptor 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:7089971-7090140 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr17:7099412-7100611 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11603 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:7114348-7114862 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:7114863-7115377 Neighboring gene Sharpr-MPRA regulatory region 12633 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:7118298-7119276 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8088 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:7123549-7124156 Neighboring gene acyl-CoA dehydrogenase very long chain Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:7128275-7128774 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:7132793-7133992 Neighboring gene microRNA 324 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8089 Neighboring gene dishevelled segment polarity protein 2

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (17 hits/1271 screens)

    Associated conditions

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2023-10-10)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2023-10-10)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

    Description
    Discovery and refinement of loci associated with lipid levels.
    EBI GWAS Catalog
    Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
    EBI GWAS Catalog
    Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 gp120 induced-neurotoxicity involves upregulation of NR2B and downregulation of PSD-95 expressions in neuron cells PubMed
    env HIV-1 gp120-induced synapse loss significantly decreases levels of PSD-95 protein by the ubiquitin-proteasome pathway in the puncta PubMed
    Tat tat HIV-1 Tat treatment induces the formation of complexes involving the low-density lipoprotein receptor-related protein (LRP), postsynaptic density protein-95 (PSD-95), and N-methyl-d-aspartic acid (NMDA) receptors at the neuron surface PubMed
    tat HIV-1 Tat decreases the scaffolding protein postsynaptic density 95 (PSD95) in synapses via the low-density lipoprotein receptor-related protein (LRP); Tat decreases PSD95 in a concentration-dependent manner PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    General gene information

    Clone Names

    • FLJ97752, FLJ98574

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables D1 dopamine receptor binding  
    enables P2Y1 nucleotide receptor binding  
    enables PDZ domain binding  
    enables acetylcholine receptor binding  
    enables beta-1 adrenergic receptor binding  
    enables ionotropic glutamate receptor binding  
    enables ionotropic glutamate receptor binding  
    enables kinase binding PubMed 
    enables neuroligin family protein binding  
    enables protein binding PubMed 
    enables protein kinase binding  
    enables protein phosphatase binding  
    enables protein-containing complex binding  
    enables scaffold protein binding  
    Items 1 - 25 of 31
    Process Evidence Code Pubs
    involved_in AMPA glutamate receptor clustering  
    involved_in AMPA glutamate receptor clustering  
    involved_in AMPA glutamate receptor clustering PubMed 
    involved_in NMDA selective glutamate receptor signaling pathway  
    involved_in cell-cell adhesion  
    involved_in cellular response to potassium ion  
    involved_in chemical synaptic transmission  
    involved_in dendritic spine morphogenesis  
    involved_in establishment of protein localization PubMed 
    involved_in establishment or maintenance of epithelial cell apical/basal polarity PubMed 
    involved_in learning PubMed 
    involved_in locomotory exploration behavior  
    involved_in negative regulation of receptor internalization  
    involved_in nervous system development  
    involved_in neuromuscular process controlling balance  
    involved_in neurotransmitter receptor localization to postsynaptic specialization membrane  
    involved_in positive regulation of cytosolic calcium ion concentration  
    involved_in positive regulation of excitatory postsynaptic potential  
    involved_in positive regulation of neuron projection arborization  
    involved_in positive regulation of synaptic transmission  
    involved_in postsynaptic neurotransmitter receptor diffusion trapping  
    involved_in protein localization to synapse  
    involved_in protein localization to synapse PubMed 
    involved_in protein-containing complex assembly PubMed 
    involved_in receptor localization to synapse  
    involved_in regulation of grooming behavior  
    involved_in regulation of long-term neuronal synaptic plasticity  
    involved_in signal transduction PubMed 
    involved_in social behavior  
    involved_in synaptic vesicle maturation  
    involved_in vocalization behavior  
    Items 1 - 25 of 31
    Items 1 - 20 of 27
    Component Evidence Code Pubs
    part_of AMPA glutamate receptor complex  
    located_in adherens junction PubMed 
    located_in cell junction  
    located_in cerebellar mossy fiber  
    located_in cortical cytoskeleton PubMed 
    located_in cytoplasm  
    located_in cytosol  
    located_in dendrite cytoplasm  
    located_in dendritic spine  
    located_in endocytic vesicle membrane  
    located_in endoplasmic reticulum  
    located_in excitatory synapse  
    located_in glutamatergic synapse  
    located_in juxtaparanode region of axon  
    is_active_in neuromuscular junction  
    is_active_in neuron projection  
    located_in neuron projection terminus  
    located_in neuron spine  
    colocalizes_with plasma membrane  
    located_in plasma membrane  
    located_in postsynaptic density  
    is_active_in postsynaptic density membrane  
    located_in postsynaptic membrane PubMed 
    located_in synapse PubMed 
    located_in synaptic membrane  
    located_in synaptic vesicle  
    part_of voltage-gated potassium channel complex  
    Items 1 - 20 of 27

    General protein information

    Preferred Names
    disks large homolog 4
    Names
    Tax interaction protein 15
    discs large homolog 4
    post-synaptic density protein 95
    synapse-associated protein 90

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_008391.3 RefSeqGene

      Range
      7423..37863
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001128827.4 → NP_001122299.1  disks large homolog 4 isoform 2

      See identical proteins and their annotated locations for NP_001122299.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains a distinct 5' UTR and 5' coding region and uses an alternate in-frame splice site, compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus and lacks a 3 amino acid internal segment when compared to isoform 1.
      Source sequence(s)
      AA954439, AC120057, AK307804, AK308533, BC030203, DC336011
      Consensus CDS
      CCDS45600.1
      UniProtKB/TrEMBL
      B7Z4H2
      Related
      ENSP00000307471.6, ENST00000302955.11
      Conserved Domains (6) summary
      cd12030
      Location:427 → 492
      SH3_DLG4; Src Homology 3 domain of Disks Large homolog 4
      smart00228
      Location:307 → 391
      PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
      pfam00595
      Location:62 → 146
      PDZ; PDZ domain (Also known as DHR or GLGF)
      pfam00625
      Location:530 → 708
      Guanylate_kin; Guanylate kinase
      pfam10600
      Location:242 → 309
      PDZ_assoc; PDZ-associated domain of NMDA receptors
      pfam10608
      Location:10 → 61
      MAGUK_N_PEST; Polyubiquitination (PEST) N-terminal domain of MAGUK
    2. NM_001321074.1 → NP_001308003.1  disks large homolog 4 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC120057, AI571947, BC030203, BC136553, DB064366
      Consensus CDS
      CCDS92245.1
      UniProtKB/TrEMBL
      B7Z4H2, B9EGL1
      Related
      ENSP00000382428.3, ENST00000399510.8
      Conserved Domains (7) summary
      cd12030
      Location:470 → 535
      SH3_DLG4; Src Homology 3 domain of Disks Large homolog 4
      smart00228
      Location:350 → 434
      PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
      pfam00595
      Location:105 → 189
      PDZ; PDZ domain (Also known as DHR or GLGF)
      pfam00625
      Location:573 → 751
      Guanylate_kin; Guanylate kinase
      pfam10600
      Location:285 → 352
      PDZ_assoc; PDZ-associated domain of NMDA receptors
      pfam10608
      Location:54 → 104
      MAGUK_N_PEST; Polyubiquitination (PEST) N-terminal domain of MAGUK
      cl02672
      Location:26 → 49
      L27; L27 domain
    3. NM_001321075.3 → NP_001308004.1  disks large homolog 4 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC120057, AK293835, BC030203, BG059570, DC336011
      Consensus CDS
      CCDS82050.1
      UniProtKB/Swiss-Prot
      B7Z1S1, G5E939, P78352, Q92941, Q9UKK8
      UniProtKB/TrEMBL
      B7Z4H2
      Related
      ENSP00000382425.2, ENST00000399506.9
      Conserved Domains (6) summary
      cd12030
      Location:430 → 495
      SH3_DLG4; Src Homology 3 domain of Disks Large homolog 4
      smart00228
      Location:310 → 394
      PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
      pfam00595
      Location:65 → 149
      PDZ; PDZ domain (Also known as DHR or GLGF)
      pfam00625
      Location:533 → 711
      Guanylate_kin; Guanylate kinase
      pfam10600
      Location:245 → 312
      PDZ_assoc; PDZ-associated domain of NMDA receptors
      pfam10608
      Location:10 → 64
      MAGUK_N_PEST; Polyubiquitination (PEST) N-terminal domain of MAGUK
    4. NM_001321076.3 → NP_001308005.1  disks large homolog 4 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC120057, AI571947, AK299801, BC030203, BP213421
      Consensus CDS
      CCDS92243.1
      UniProtKB/TrEMBL
      B7Z4H2, B7Z647
      Related
      ENSP00000497647.1, ENST00000649520.1
      Conserved Domains (5) summary
      cd12030
      Location:370 → 435
      SH3_DLG4; Src Homology 3 domain of Disks Large homolog 4
      smart00228
      Location:250 → 334
      PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
      pfam00595
      Location:5 → 89
      PDZ; PDZ domain (Also known as DHR or GLGF)
      pfam00625
      Location:473 → 651
      Guanylate_kin; Guanylate kinase
      pfam10600
      Location:185 → 252
      PDZ_assoc; PDZ-associated domain of NMDA receptors
    5. NM_001321077.3 → NP_001308006.1  disks large homolog 4 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC120057, AI571947, AK297346, AK299801, BC030203, BP213421
      Consensus CDS
      CCDS92243.1
      UniProtKB/TrEMBL
      B7Z4H2, B7Z647
      Related
      ENSP00000497879.1, ENST00000649186.1
      Conserved Domains (5) summary
      cd12030
      Location:370 → 435
      SH3_DLG4; Src Homology 3 domain of Disks Large homolog 4
      smart00228
      Location:250 → 334
      PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
      pfam00595
      Location:5 → 89
      PDZ; PDZ domain (Also known as DHR or GLGF)
      pfam00625
      Location:473 → 651
      Guanylate_kin; Guanylate kinase
      pfam10600
      Location:185 → 252
      PDZ_assoc; PDZ-associated domain of NMDA receptors
    6. NM_001365.5 → NP_001356.1  disks large homolog 4 isoform 1

      See identical proteins and their annotated locations for NP_001356.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC120057
      Consensus CDS
      CCDS45599.1
      UniProtKB/TrEMBL
      B7Z3U2, K7EQM6
      Related
      ENSP00000497806.3, ENST00000648172.9
      Conserved Domains (7) summary
      cd12030
      Location:473 → 538
      SH3_DLG4; Src Homology 3 domain of Disks Large homolog 4
      smart00228
      Location:353 → 437
      PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
      pfam00595
      Location:108 → 192
      PDZ; PDZ domain (Also known as DHR or GLGF)
      pfam00625
      Location:576 → 754
      Guanylate_kin; Guanylate kinase
      pfam10600
      Location:288 → 355
      PDZ_assoc; PDZ-associated domain of NMDA receptors
      pfam10608
      Location:54 → 107
      MAGUK_N_PEST; Polyubiquitination (PEST) N-terminal domain of MAGUK
      cl02672
      Location:26 → 49
      L27; L27 domain
    7. NM_001369566.3 → NP_001356495.1  disks large homolog 4 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC120057, AK308533
      Consensus CDS
      CCDS92244.1
      UniProtKB/TrEMBL
      A0A3B3IS17, B7Z4H2
      Related
      ENSP00000497011.1, ENST00000649971.1
      Conserved Domains (6) summary
      cd12030
      Location:403 → 468
      SH3_DLG4; Src Homology 3 domain of Disks Large homolog 4
      smart00228
      Location:283 → 367
      PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
      pfam00625
      Location:506 → 684
      Guanylate_kin; Guanylate kinase
      pfam10600
      Location:218 → 285
      PDZ_assoc; PDZ-associated domain of NMDA receptors
      pfam00595
      Location:38 → 122
      PDZ; PDZ domain (Also known as DHR or GLGF)
      pfam10608
      Location:8 → 37
      MAGUK_N_PEST; Polyubiquitination (PEST) N-terminal domain of MAGUK

    RNA

    1. NR_135527.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) lacks an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC120057, AI571947, AK296357, BC030203, BC136553, DB064366
      Related
      ENST00000491753.2

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      7187187..7220050 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      7088092..7120961 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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