Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

    DLGAP2 DLG associated protein 2 [ Homo sapiens (human) ]

    Gene ID: 9228, updated on 8-Oct-2017
    Official Symbol
    DLGAP2provided by HGNC
    Official Full Name
    DLG associated protein 2provided by HGNC
    Primary source
    HGNC:HGNC:2906
    See related
    Ensembl:ENSG00000198010 MIM:605438; Vega:OTTHUMG00000163599
    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
    DAP2; SAPAP2; C8orf68; ERICH1-AS1
    Summary
    The product of this gene is a membrane-associated protein that may play a role in synapse organization and signalling in neuronal cells. This gene is biallelically expressed in the brain, however, only the paternal allele is expressed in the testis (PMID:18055845). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jun 2014]
    Orthologs
    Location:
    8p23.3
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 8 NC_000008.11 (1501366..1708476)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (877021..1656642)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene testis development related protein Neighboring gene uncharacterized LOC105377774 Neighboring gene glutamate rich 1 Neighboring gene uncharacterized LOC401442 Neighboring gene uncharacterized LOC105377777 Neighboring gene uncharacterized LOC286083 Neighboring gene uncharacterized LOC105379585 Neighboring gene uncharacterized LOC105377775 Neighboring gene uncharacterized LOC105379586 Neighboring gene DLGAP2 antisense RNA 1 Neighboring gene uncharacterized LOC105377778 Neighboring gene DNA fragmentation factor subunit alpha pseudogene Neighboring gene uncharacterized LOC101927752 Neighboring gene CLN8, transmembrane ER and ERGIC protein

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated (2012-03-22)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated (2012-03-22)

    ClinGen Genome Curation Page

    NHGRI GWAS Catalog

    Description
    Amerindian-specific regions under positive selection harbour new lipid variants in Latinos.
    NHGRI GWA Catalog
    Genome-wide association study of age at menarche in African-American women.
    NHGRI GWA Catalog
    • Interactions of neurexins and neuroligins at synapses, organism-specific biosystem (from REACTOME)
      Interactions of neurexins and neuroligins at synapses, organism-specific biosystemNeurexins (NRXNs) and neuroligins (NLGNs) are best characterized synaptic cell-adhesion molecules. They are part of excitatory glutamatergic and inhibitory GABAergic synapses in mammalian brain, medi...
    • Neuronal System, organism-specific biosystem (from REACTOME)
      Neuronal System, organism-specific biosystemThe human brain contains at least 100 billion neurons, each with the ability to influence many other cells. Clearly, highly sophisticated and efficient mechanisms are needed to enable communication a...
    • Protein-protein interactions at synapses, organism-specific biosystem (from REACTOME)
      Protein-protein interactions at synapses, organism-specific biosystemSynapses constitute highly specialized sites of asymmetric cell-cell adhesion and intercellular communication. Its formation involves the recruitment of presynaptic and postsynaptic molecules at newl...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein domain specific binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    neuron-neuron synaptic transmission NAS
    Non-traceable Author Statement
    more info
    PubMed 
    protein complex assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    cell junction IEA
    Inferred from Electronic Annotation
    more info
     
    neurofilament NAS
    Non-traceable Author Statement
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    postsynaptic density IEA
    Inferred from Electronic Annotation
    more info
     
    postsynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
     
    synapse IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Preferred Names
    disks large-associated protein 2
    Names
    ERICH1 antisense RNA 1 (non-protein coding)
    ERICH1 antisense gene protein 1
    PSD-95/SAP90-binding protein 2
    SAP90/PSD-95-associated protein 2
    discs large homolog associated protein 2
    discs large-associated protein 2
    putative DAP-2 like protein

    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_009409.2 RefSeqGene

      Range
      5001..975758
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001346810.1NP_001333739.1  disks large-associated protein 2 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC005010, AC026950, AC100797, AC110288, AC126333, AW195368
      UniProtKB/TrEMBL
      A0A1B0GTN4

    RNA

    1. NR_073397.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC100797, BC022082, HY026606
      Related
      ENST00000522092.5

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p7 Primary Assembly

      Range
      1501366..1708476
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    2. NC_000008.11 Reference GRCh38.p7 Primary Assembly

      Range
      737605..1137777
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p7 ALT_REF_LOCI_1

    Genomic

    1. NT_187565.1 Reference GRCh38.p7 ALT_REF_LOCI_1

      Range
      206898..291612
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p7 ALT_REF_LOCI_1

    Genomic

    1. NT_187568.1 Reference GRCh38.p7 ALT_REF_LOCI_1

      Range
      40534..279067
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p7 ALT_REF_LOCI_1

    Genomic

    1. NT_187572.1 Reference GRCh38.p7 ALT_REF_LOCI_1

      Range
      19196..106180
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p7 ALT_REF_LOCI_2

    Genomic

    1. NT_187654.1 Reference GRCh38.p7 ALT_REF_LOCI_2

      Range
      112163..317743
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p7 ALT_REF_LOCI_3

    Genomic

    1. NT_187680.1 Reference GRCh38.p7 ALT_REF_LOCI_3

      Range
      40124..121138
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018919.2 Alternate CHM1_1.1

      Range
      1442343..1656072
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    2. NC_018919.2 Alternate CHM1_1.1

      Range
      687298..1087476
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001277161.1: Suppressed sequence

      Description
      NM_001277161.1: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.
    2. NM_004745.4: Suppressed sequence

      Description
      NM_004745.4: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.
    Support Center