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

    Gene ID: 9228, updated on 28-Oct-2024

    Summary

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    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; AllianceGenome:HGNC:2906
    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]
    Expression
    Biased expression in brain (RPKM 4.0), testis (RPKM 1.4) and 2 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DLGAP2 in Genome Data Viewer
    Location:
    8p23.3
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (737628..1708476)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (529208..1487141)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (687628..1656642)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902054 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:647979-648498 Neighboring gene glutamate rich 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:670296-670830 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:669760-670295 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:678707-679211 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:677860-678646 Neighboring gene uncharacterized LOC124902044 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:728526-729090 Neighboring gene uncharacterized LOC401442 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:736241-736398 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:743529-744064 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:790357-791126 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:811009-811508 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:810507-811008 Neighboring gene uncharacterized LOC105377777 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:840949-841688 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:841689-842428 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:851295-851953 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:851954-852611 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:855381-855880 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:864299-864799 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:864873-865374 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:883096-883666 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:888712-889264 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:888158-888711 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:890486-890986 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:899165-900128 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:912422-912922 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:914952-916151 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:945571-946770 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:952935-953435 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:963216-964415 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:966834-968033 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:971810-972310 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:972311-972811 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:975802-976302 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr8:1007495-1008126 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:1008127-1008757 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:1011532-1012388 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:1016834-1017358 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:1020420-1020947 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:1020948-1021474 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:1026287-1026787 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:1054437-1054938 Neighboring gene uncharacterized LOC124900249 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:1058215-1059131 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr8:1082844-1083475 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:1106443-1107642 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:1137192-1138391 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:1143844-1144350 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:1144351-1144856 Neighboring gene MPRA-validated peak6884 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:1204552-1205230 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:1230934-1231434 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:1231435-1231935 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:1232453-1232952 Neighboring gene Sharpr-MPRA regulatory region 9258 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:1246267-1247120 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:1265413-1266612 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:1269351-1269851 Neighboring gene uncharacterized LOC124901869 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:1268850-1269350 Neighboring gene MPRA-validated peak6885 silencer Neighboring gene uncharacterized LOC286083 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:1298361-1298888 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:1298889-1299416 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:1308799-1309340 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:1321423-1321923 Neighboring gene keratinocyte proline-rich protein-like Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr8:1322036-1322849 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:1325138-1326080 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:1365595-1365747 Neighboring gene uncharacterized LOC105377775 Neighboring gene uncharacterized LOC105379586 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:1385309-1385823 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:1403885-1405084 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:1427697-1428250 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:1449675-1450203 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:1455237-1455738 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:1455739-1456238 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:1487477-1487978 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:1487979-1488478 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:1525979-1526505 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:1534609-1535108 Neighboring gene DLGAP2 antisense RNA 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:1552920-1554119 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:1555917-1556470 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:1574652-1575623 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:1580608-1581807 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:1585200-1585433 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:1605998-1606719 Neighboring gene uncharacterized LOC124901870 Neighboring gene conserved acetylation island sequence 7 enhancer Neighboring gene DNA fragmentation factor subunit alpha pseudogene Neighboring gene uncharacterized LOC105377778 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:1703542-1704741 Neighboring gene CLN8 transmembrane ER and ERGIC protein

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. DNA Methylation Near DLGAP2 May Mediate the Relationship between Family History of Type 1 Diabetes and Type 1 Diabetes Risk. Johnson RK, et al. Pediatr Diabetes, 2023. PMID 38765731, Free PMC Article
    2. Computational and experimental identification of novel human imprinted genes. Luedi PP, et al. Genome Res, 2007 Dec. PMID 18055845, Free PMC Article
    3. Positional cloning and characterisation of the human DLGAP2 gene and its exclusion in progressive epilepsy with mental retardation. Ranta S, et al. Eur J Hum Genet, 2000 May. PMID 10854099
    4. Glutamate system genes and brain volume alterations in pediatric obsessive-compulsive disorder: a preliminary study. Wu K, et al. Psychiatry Res, 2013 Mar 30. PMID 23154099, Free PMC Article
    5. Role of the DLGAP2 gene encoding the SAP90/PSD-95-associated protein 2 in schizophrenia. Li JM, et al. PLoS One, 2014. PMID 24416398, Free PMC Article

    See all (37) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. DNA Methylation Near DLGAP2 May Mediate the Relationship between Family History of Type 1 Diabetes and Type 1 Diabetes Risk.
      Title: DNA Methylation Near DLGAP2 May Mediate the Relationship between Family History of Type 1 Diabetes and Type 1 Diabetes Risk.
    2. Cross-Species Analyses Identify Dlgap2 as a Regulator of Age-Related Cognitive Decline and Alzheimer's Dementia.
      Title: Cross-Species Analyses Identify Dlgap2 as a Regulator of Age-Related Cognitive Decline and Alzheimer's Dementia.
    3. Cannabis use is associated with potentially heritable widespread changes in autism candidate gene DLGAP2 DNA methylation in sperm.
      Title: Cannabis use is associated with potentially heritable widespread changes in autism candidate gene DLGAP2 DNA methylation in sperm.
    4. This study showed increased DNA methylation levels of the DLGAP2 gene in both TD and NTD patients compared to control individuals.
      Title: Quantitative DNA Methylation Analysis of DLGAP2 Gene using Pyrosequencing in Schizophrenia with Tardive Dyskinesia: A Linear Mixed Model Approach.
    5. Results show that RP11-397D12.4, AC007403.1, and ERICH1-AS1 LncRNA expression are up-regulated in non-small-cell lung cancer (NSCLC) and may be potential biomarkers for predicting the tumorigenesis of NSCLC in the future.
      Title: Three circulating long non-coding RNAs act as biomarkers for predicting NSCLC.
    6. The Gene-based analyses revealed four significant associations in the WT1, ZC3H12C, DLGAP2, and GPR1 genes at p < 0.05. in this study.
      Title: Genetic variation in imprinted genes is associated with risk of late-onset Alzheimer's disease.
    7. DLGAP2 is a susceptible gene of schizophrenia.
      Title: Role of the DLGAP2 gene encoding the SAP90/PSD-95-associated protein 2 in schizophrenia.
    8. this study demonistrated that two SNPs in DLGAP2 (rs6558484 and rs7014992) and prefrontal cortex white matter volume.
      Title: Glutamate system genes and brain volume alterations in pediatric obsessive-compulsive disorder: a preliminary study.
    9. DLGAP2 gene is imprinted, with preferential expression from the paternal allele in testis.
      Title: Computational and experimental identification of novel human imprinted genes.
    10. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    Submit: New GeneRIF Correction See all GeneRIFs (14)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    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

    EBI GWAS Catalog

    Description
    Amerindian-specific regions under positive selection harbour new lipid variants in Latinos.
    EBI GWAS Catalog
    Genome-wide association study of age at menarche in African-American women.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    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 GOA

    Function Evidence Code Pubs
    enables molecular adaptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in modulation of chemical synaptic transmission IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in neuron-neuron synaptic transmission NAS
    Non-traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    is_active_in glutamatergic synapse IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in neurofilament NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in postsynaptic density IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in postsynaptic specialization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    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

    NCBI Reference Sequences (RefSeq)

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    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_009409.2 RefSeqGene

      Range
      4910..975758
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      Status: REVIEWED

      Source sequence(s)
      AC005010, AC026950, AC100797, AC110288, AC126333, AW195368
      Consensus CDS
      CCDS87572.1
      UniProtKB/Swiss-Prot
      A1QCF8, A1QCF9, A5D8Y2, O14488, O14664, Q9P1A6, Q9P1A7
      UniProtKB/TrEMBL
      A0A1B0GTN4
      Related
      ENSP00000489774.1, ENST00000637795.2

    RNA

    1. NR_073397.2 RNA Sequence

      Status: REVIEWED

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

    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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      737628..1708476
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187565.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      206894..291612
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187568.1 Reference GRCh38.p14 ALT_REF_LOCI_1

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

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187572.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      19219..106180
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_2

    Genomic

    1. NT_187654.1 Reference GRCh38.p14 ALT_REF_LOCI_2

      Range
      112159..317743
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_3

    Genomic

    1. NT_187680.1 Reference GRCh38.p14 ALT_REF_LOCI_3

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      529208..1487141
      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.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9P1A6.4 GenPept UniProtKB/Swiss-Prot:Q9P1A6

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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