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    DLG3 discs large MAGUK scaffold protein 3 [ Homo sapiens (human) ]

    Gene ID: 1741, updated on 6-Jun-2024

    Summary

    Official Symbol
    DLG3provided by HGNC
    Official Full Name
    discs large MAGUK scaffold protein 3provided by HGNC
    Primary source
    HGNC:HGNC:2902
    See related
    Ensembl:ENSG00000082458 MIM:300189; AllianceGenome:HGNC:2902
    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
    MRX; XLMR; MRX90; NEDLG; SAP102; XLID90; PPP1R82
    Summary
    This gene encodes a member of the membrane-associated guanylate kinase protein family. The encoded protein may play a role in clustering of NMDA receptors at excitatory synapses. It may also negatively regulate cell proliferation through interaction with the C-terminal region of the adenomatosis polyposis coli tumor suppressor protein. Mutations in this gene have been associated with X-linked cognitive disability. Alternatively spliced transcript variants have been described. [provided by RefSeq, Oct 2009]
    Expression
    Ubiquitous expression in brain (RPKM 7.8), colon (RPKM 6.2) and 23 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See DLG3 in Genome Data Viewer
    Location:
    Xq13.1
    Exon count:
    27
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (70444835..70505490)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (68878160..68938810)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (69664685..69725340)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene kinesin family member 4A Neighboring gene ReSE screen-validated silencer GRCh37_chrX:69622427-69622649 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:69642130-69643118 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:69643119-69644107 Neighboring gene uncharacterized LOC105373244 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29731 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20890 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29732 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29733 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:69655249-69655749 Neighboring gene RNY4 pseudogene 23 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:69664203-69664989 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20891 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:69674628-69675054 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20893 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chrX:69696945-69697843 Neighboring gene NANOG hESC enhancer GRCh37_chrX:69699902-69700403 Neighboring gene glycerophosphodiester phosphodiesterase domain containing 2 Neighboring gene RNA, U4 small nuclear 81, pseudogene Neighboring gene DLG3 antisense RNA 1 Neighboring gene NANOG hESC enhancer GRCh37_chrX:69728146-69728708 Neighboring gene testis expressed 11 Neighboring gene small integral membrane protein 30-like Neighboring gene small nucleolar RNA, C/D box 3E

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Intellectual disability, X-linked 90
    MedGen: C3275443 OMIM: 300850 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2019-11-20)

    ClinGen Genome Curation Page
    Haploinsufficency

    Some evidence for dosage pathogenicity (Last evaluated 2019-11-20)

    ClinGen Genome Curation PagePubMed

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA1232

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ionotropic glutamate receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables kinase binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables phosphatase binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein kinase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables ubiquitin protein ligase binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in cell-cell adhesion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in chemical synaptic transmission IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in embryo development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in establishment of planar polarity IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in establishment or maintenance of epithelial cell apical/basal polarity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in establishment or maintenance of epithelial cell apical/basal polarity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of cell population proliferation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of protein tyrosine kinase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in receptor clustering IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in receptor localization to synapse IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of postsynaptic membrane neurotransmitter receptor levels IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    part_of AMPA glutamate receptor complex IEA
    Inferred from Electronic Annotation
    more info
     
    located_in adherens junction NAS
    Non-traceable Author Statement
    more info
    PubMed 
    is_active_in basolateral plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in bicellular tight junction IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in extracellular space HDA PubMed 
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in neuromuscular junction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in neuron projection IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    is_active_in postsynaptic density membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    disks large homolog 3
    Names
    discs, large homolog 3
    neuroendocrine-DLG
    protein phosphatase 1, regulatory subunit 82
    synapse-associated protein 102

    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_015849.2 RefSeqGene

      Range
      4981..65636
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001166278.2NP_001159750.1  disks large homolog 3 isoform c

      See identical proteins and their annotated locations for NP_001159750.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and has multiple coding region differences, compared to variant 1. Translation initiates at a downstream AUG and results in an isoform (c) that is shorter than isoform a.
      Source sequence(s)
      AB033058, AK303377, CK300381
      Consensus CDS
      CCDS55439.1
      UniProtKB/Swiss-Prot
      Q92796
      Related
      ENSP00000441393.1, ENST00000542398.1
      Conserved Domains (2) summary
      pfam00625
      Location:175353
      Guanylate_kin; Guanylate kinase
      cl17036
      Location:1985
      SH3; Src Homology 3 domain superfamily
    2. NM_020730.3NP_065781.1  disks large homolog 3 isoform b

      See identical proteins and their annotated locations for NP_065781.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and has multiple coding region differences, compared to variant 1. Translation initiates at an alternate AUG and results in an isoform (b) that is shorter and has a distinct N-terminus compared to isoform a.
      Source sequence(s)
      AB033058, AL139398, CK300381, CN357435
      Consensus CDS
      CCDS43967.1
      UniProtKB/Swiss-Prot
      Q92796
      Related
      ENSP00000363475.3, ENST00000374355.8
      Conserved Domains (3) summary
      cd00992
      Location:47125
      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:321499
      Guanylate_kin; Guanylate kinase
      cl17036
      Location:165231
      SH3; Src Homology 3 domain superfamily
    3. NM_021120.4NP_066943.2  disks large homolog 3 isoform a

      See identical proteins and their annotated locations for NP_066943.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AB033058, AB209328, AL139398, BC093866, CK300381
      Consensus CDS
      CCDS14403.1
      UniProtKB/Swiss-Prot
      B4E0H1, D3DVU5, Q5JUW6, Q5JUW7, Q92796, Q9ULI8
      UniProtKB/TrEMBL
      Q5JUW8
      Related
      ENSP00000363480.3, ENST00000374360.8
      Conserved Domains (5) summary
      cd12029
      Location:502568
      SH3_DLG3; Src Homology 3 domain of Disks Large homolog 3
      cd00992
      Location:384462
      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:626804
      Guanylate_kin; Guanylate kinase
      pfam10600
      Location:311385
      PDZ_assoc; PDZ-associated domain of NMDA receptors
      pfam10608
      Location:52130
      MAGUK_N_PEST; Polyubiquitination (PEST) N-terminal domain of MAGUK

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      70444835..70505490
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006724625.3XP_006724688.1  disks large homolog 3 isoform X1

      See identical proteins and their annotated locations for XP_006724688.1

      UniProtKB/TrEMBL
      Q5JUW8
      Conserved Domains (5) summary
      cd12029
      Location:502568
      SH3_DLG3; Src Homology 3 domain of Disks Large homolog 3
      cd00992
      Location:384462
      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:658836
      Guanylate_kin; Guanylate kinase
      pfam10600
      Location:311385
      PDZ_assoc; PDZ-associated domain of NMDA receptors
      pfam10608
      Location:52130
      MAGUK_N_PEST; Polyubiquitination (PEST) N-terminal domain of MAGUK
    2. XM_011530883.2XP_011529185.1  disks large homolog 3 isoform X2

      UniProtKB/TrEMBL
      Q5JUW8
      Conserved Domains (5) summary
      cd12029
      Location:502568
      SH3_DLG3; Src Homology 3 domain of Disks Large homolog 3
      cd00992
      Location:384462
      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:644822
      Guanylate_kin; Guanylate kinase
      pfam10600
      Location:311385
      PDZ_assoc; PDZ-associated domain of NMDA receptors
      pfam10608
      Location:52130
      MAGUK_N_PEST; Polyubiquitination (PEST) N-terminal domain of MAGUK
    3. XM_006724626.3XP_006724689.1  disks large homolog 3 isoform X3

      See identical proteins and their annotated locations for XP_006724689.1

      UniProtKB/TrEMBL
      Q5JUW8
      Related
      ENSP00000194900.4, ENST00000194900.8
      Conserved Domains (5) summary
      cd12029
      Location:502568
      SH3_DLG3; Src Homology 3 domain of Disks Large homolog 3
      cd00992
      Location:384462
      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:640818
      Guanylate_kin; Guanylate kinase
      pfam10600
      Location:311385
      PDZ_assoc; PDZ-associated domain of NMDA receptors
      pfam10608
      Location:52130
      MAGUK_N_PEST; Polyubiquitination (PEST) N-terminal domain of MAGUK
    4. XM_017029322.3XP_016884811.1  disks large homolog 3 isoform X4

    5. XM_017029323.3XP_016884812.1  disks large homolog 3 isoform X5

    6. XM_017029324.3XP_016884813.1  disks large homolog 3 isoform X6

    7. XM_005262248.5XP_005262305.1  disks large homolog 3 isoform X8

      See identical proteins and their annotated locations for XP_005262305.1

      UniProtKB/Swiss-Prot
      Q92796
      Conserved Domains (2) summary
      pfam00625
      Location:175353
      Guanylate_kin; Guanylate kinase
      cl17036
      Location:1985
      SH3; Src Homology 3 domain superfamily
    8. XM_047441886.1XP_047297842.1  disks large homolog 3 isoform X8

    9. XM_047441885.1XP_047297841.1  disks large homolog 3 isoform X8

    10. XM_047441884.1XP_047297840.1  disks large homolog 3 isoform X8

    11. XM_047441887.1XP_047297843.1  disks large homolog 3 isoform X8

    12. XM_047441888.1XP_047297844.1  disks large homolog 3 isoform X9

    13. XM_017029327.2XP_016884816.1  disks large homolog 3 isoform X10

    14. XM_047441883.1XP_047297839.1  disks large homolog 3 isoform X8

    15. XM_017029325.3XP_016884814.1  disks large homolog 3 isoform X7

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      68878160..68938810
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054326603.1XP_054182578.1  disks large homolog 3 isoform X1

      UniProtKB/TrEMBL
      Q5JUW8
    2. XM_054326604.1XP_054182579.1  disks large homolog 3 isoform X2

      UniProtKB/TrEMBL
      Q5JUW8
    3. XM_054326605.1XP_054182580.1  disks large homolog 3 isoform X3

      UniProtKB/TrEMBL
      Q5JUW8
    4. XM_054326606.1XP_054182581.1  disks large homolog 3 isoform X4

    5. XM_054326607.1XP_054182582.1  disks large homolog 3 isoform X5

    6. XM_054326608.1XP_054182583.1  disks large homolog 3 isoform X6

    7. XM_054326611.1XP_054182586.1  disks large homolog 3 isoform X8

    8. XM_054326614.1XP_054182589.1  disks large homolog 3 isoform X8

    9. XM_054326613.1XP_054182588.1  disks large homolog 3 isoform X8

    10. XM_054326612.1XP_054182587.1  disks large homolog 3 isoform X8

    11. XM_054326615.1XP_054182590.1  disks large homolog 3 isoform X8

    12. XM_054326616.1XP_054182591.1  disks large homolog 3 isoform X9

    13. XM_054326617.1XP_054182592.1  disks large homolog 3 isoform X10

    14. XM_054326610.1XP_054182585.1  disks large homolog 3 isoform X8

    15. XM_054326609.1XP_054182584.1  disks large homolog 3 isoform X7