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    Dlgap2 DLG associated protein 2 [ Mus musculus (house mouse) ]

    Gene ID: 244310, updated on 12-May-2024

    Summary

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    Official Symbol
    Dlgap2provided by MGI
    Official Full Name
    DLG associated protein 2provided by MGI
    Primary source
    MGI:MGI:2443181
    See related
    Ensembl:ENSMUSG00000047495 AllianceGenome:MGI:2443181
    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
    Dap2; Dap-2; Sapap2; 6430596N04Rik
    Summary
    Predicted to enable molecular adaptor activity and protein domain specific binding activity. Involved in regulation of postsynaptic neurotransmitter receptor activity. Predicted to be located in dendritic spine. Predicted to be active in glutamatergic synapse and postsynaptic specialization. Is expressed in cranium and nervous system. Orthologous to human DLGAP2 (DLG associated protein 2). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in cortex adult (RPKM 4.2), frontal lobe adult (RPKM 3.8) and 6 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    8 A1.1; 8 6.51 cM
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (14145793..14903426)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (14095776..14853426)

    Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E8228 Neighboring gene glutamate rich 1 Neighboring gene predicted gene, 57788 Neighboring gene predicted gene 10699 Neighboring gene high mobility group protein 1 pseudogene Neighboring gene STARR-seq mESC enhancer starr_20790 Neighboring gene STARR-seq mESC enhancer starr_20791 Neighboring gene STARR-positive B cell enhancer mm9_chr8:14306729-14307029 Neighboring gene STARR-seq mESC enhancer starr_20792 Neighboring gene predicted gene, 26184 Neighboring gene STARR-seq mESC enhancer starr_20793 Neighboring gene RIKEN cDNA C030037F17 gene Neighboring gene STARR-seq mESC enhancer starr_20794 Neighboring gene STARR-seq mESC enhancer starr_20795 Neighboring gene Rho guanine nucleotide exchange factor 10 Neighboring gene CLN8 transmembrane ER and ERGIC protein Neighboring gene predicted gene, 35285

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Altered synaptic protein expression, aberrant spine morphology, and impaired spatial memory in Dlgap2 mutant mice, a genetic model of autism spectrum disorder. Hsieh MY, et al. Cereb Cortex, 2023 Apr 4. PMID 36169576
    2. Genotype-dependent epigenetic regulation of DLGAP2 in alcohol use and dependence. Meng W, et al. Mol Psychiatry, 2021 Aug. PMID 31745236
    3. Autism-associated gene Dlgap2 mutant mice demonstrate exacerbated aggressive behaviors and orbitofrontal cortex deficits. Jiang-Xie LF, et al. Mol Autism, 2014. PMID 25071926, Free PMC Article
    4. Learning and reaction times in mouse touchscreen tests are differentially impacted by mutations in genes encoding postsynaptic interacting proteins SYNGAP1, NLGN3, DLGAP1, DLGAP2 and SHANK2. Horner AE, et al. Genes Brain Behav, 2021 Jan. PMID 33347690, Free PMC Article
    5. Fragile X mental retardation protein regulates the levels of scaffold proteins and glutamate receptors in postsynaptic densities. Schütt J, et al. J Biol Chem, 2009 Sep 18. PMID 19640847, Free PMC Article

    See all (27) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Altered synaptic protein expression, aberrant spine morphology, and impaired spatial memory in Dlgap2 mutant mice, a genetic model of autism spectrum disorder.
      Title: Altered synaptic protein expression, aberrant spine morphology, and impaired spatial memory in Dlgap2 mutant mice, a genetic model of autism spectrum disorder.
    2. Genotype-dependent epigenetic regulation of DLGAP2 in alcohol use and dependence.
      Title: Genotype-dependent epigenetic regulation of DLGAP2 in alcohol use and dependence.
    3. Learning and reaction times in mouse touchscreen tests are differentially impacted by mutations in genes encoding postsynaptic interacting proteins SYNGAP1, NLGN3, DLGAP1, DLGAP2 and SHANK2.
      Title: Learning and reaction times in mouse touchscreen tests are differentially impacted by mutations in genes encoding postsynaptic interacting proteins SYNGAP1, NLGN3, DLGAP1, DLGAP2 and SHANK2.
    4. Semi-quantitative analysis of RNA levels in FMRP immunoprecipitates showed that in the mouse brain mRNAs encoding PSD components, such as Shank1, SAPAP1-3, PSD-95, and the glutamate receptor subunits NR1 and NR2B, are associated with FMRP.
      Title: Fragile X mental retardation protein regulates the levels of scaffold proteins and glutamate receptors in postsynaptic densities.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (3) 
    • Targeted (1)  1 citation

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables molecular adaptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein domain specific binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in modulation of chemical synaptic transmission IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in modulation of chemical synaptic transmission IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of postsynaptic neurotransmitter receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of postsynaptic neurotransmitter receptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of postsynaptic neurotransmitter receptor activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in signaling IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in dendrite ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in dendritic spine ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in glutamatergic synapse IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in glutamatergic synapse IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in glutamatergic synapse IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in postsynaptic density, intracellular component IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in postsynaptic density, intracellular component IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    is_active_in postsynaptic specialization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in synapse IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    disks large-associated protein 2
    Names
    PSD-95/SAP90-binding protein 2
    SAP90/PSD-95 associated protein 2
    discs, large homolog-associated protein 2

    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_001145965.1 → NP_001139437.1  disks large-associated protein 2 isoform 2

      See identical proteins and their annotated locations for NP_001139437.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an internal exon in the 5' region, which results in an upstream AUG start codon, as compared to variant 1. The resulting isoform (2) has a different and one amino acid longer N-terminus, as compared to isoform 1.
      Source sequence(s)
      AK032564, BB622956, BC118969, CD773896
      Consensus CDS
      CCDS52491.1
      UniProtKB/TrEMBL
      Q0VF59, Q3V2X4
      Related
      ENSMUSP00000123078.2, ENSMUST00000152652.8
      Conserved Domains (1) summary
      pfam03359
      Location:716 → 1060
      GKAP; Guanylate-kinase-associated protein (GKAP) protein

    2. NM_172910.3 → NP_766498.2  disks large-associated protein 2 isoform 1

      See identical proteins and their annotated locations for NP_766498.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes a protein (isoform 1) of 1059aa.
      Source sequence(s)
      AK032564, AK082945, BC118969, CD773896
      Consensus CDS
      CCDS52492.1
      UniProtKB/Swiss-Prot
      Q6XBF3, Q8BJ42
      UniProtKB/TrEMBL
      Q3V2X4
      Related
      ENSMUSP00000119613.2, ENSMUST00000133298.8
      Conserved Domains (1) summary
      pfam03359
      Location:715 → 1059
      GKAP; Guanylate-kinase-associated protein (GKAP) protein

    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_000074.7 Reference GRCm39 C57BL/6J

      Range
      14145793..14903426
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006508783.5 → XP_006508846.1  disks large-associated protein 2 isoform X3

      UniProtKB/TrEMBL
      Q3V2X4
      Conserved Domains (1) summary
      pfam03359
      Location:716 → 1046
      GKAP; Guanylate-kinase-associated protein (GKAP) protein

    2. XM_036154017.1 → XP_036009910.1  disks large-associated protein 2 isoform X4

      UniProtKB/TrEMBL
      Q3V2X4
      Related
      ENSMUSP00000123104.2, ENSMUST00000150247.8
      Conserved Domains (1) summary
      pfam03359
      Location:715 → 1045
      GKAP; Guanylate-kinase-associated protein (GKAP) protein

    3. XM_006508781.5 → XP_006508844.1  disks large-associated protein 2 isoform X1

      UniProtKB/TrEMBL
      Q3V2X4
      Conserved Domains (1) summary
      pfam03359
      Location:711 → 1055
      GKAP; Guanylate-kinase-associated protein (GKAP) protein

    4. XM_006508782.5 → XP_006508845.1  disks large-associated protein 2 isoform X2

      UniProtKB/TrEMBL
      Q3V2X4
      Conserved Domains (1) summary
      pfam03359
      Location:703 → 1047
      GKAP; Guanylate-kinase-associated protein (GKAP) protein
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8BJ42.2 GenPept UniProtKB/Swiss-Prot:Q8BJ42

    Gene LinkOut

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