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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

DLGAP2 Gene

protein-coding   GIFtS: 52
GCID: GC08P001436

discs, large (Drosophila) homolog-associated protein 2

(Previous names: discs, large (Drosophila) homolog-associated protein 2...)
 Explore 3 diseases affiliated with
DLGAP2 via our new
 Human Malady Compendium 
Biological research products
for DLGAP2
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Discs, Large (Drosophila) Homolog-Associated Protein 21 2     PSD-95/SAP90-Binding Protein 22 3
DAP22 3 5     SAP90/PSD-95-Associated Protein 22 3
DAP-21 3     Disks Large-Associated Protein 22
SAPAP22 3     

External Ids:    HGNC: 29061   Entrez Gene: 92282   Ensembl: ENSG000001980107   OMIM: 6054385   UniProtKB: Q9P1A63   

Export aliases for DLGAP2 gene to outside databases

Previous GC identifers: GC08P001260 GC08P001555


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for DLGAP2:
The product of this gene is one of the membrane-associated guanylate kinases localized at postsynaptic density in
neuronal cells. These kinases are a family of signaling molecules expressed at various submembrane domains and contain
the PDZ, SH3 and the guanylate kinase domains. This protein may play a role in the molecular organization of synapses
and in neuronal cell signaling. Alternatively spliced transcript variants encoding different isoforms have been
identified, but their full-length nature is not known. This gene is biallelically expressed in the brain, however,
only the paternal allele is expressed in the testis (PMID:18055845). (provided by RefSeq, Oct 2010)

UniProtKB/Swiss-Prot: DLGP2_HUMAN, Q9P1A6
Function: May play a role in the molecular organization of synapses and neuronal cell signaling. Could be an adapter
protein linking ion channel to the subsynaptic cytoskeleton. May induce enrichment of PSD-95/SAP90 at the plasma
membrane

Gene Wiki entry for DLGAP2


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000008.10  NC_018919.1  NT_023736.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the DLGAP2 gene promoter:
         Elk-1   AML1a   GATA-1   HNF-1A   C/EBPalpha   PPAR-gamma1   S8   HNF-1   Cart-1   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDLGAP2 promoter sequence
   Search SABiosciences Chromatin IP Primers for DLGAP2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DLGAP2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 8p23   Ensembl cytogenetic band:  8p23.3   HGNC cytogenetic band: 8p23

DLGAP2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DLGAP2 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08P001436:  view genomic region     (about GC identifiers)

Start:
1,449,532 bp from pter      End:
1,656,642 bp from pter
Size:
207,111 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: DLGP2_HUMAN, Q9P1A6 (See protein sequence)
Recommended Name: Disks large-associated protein 2  
Size: 1054 amino acids; 117620 Da
Subunit: Interacts with DLG1 and DLG4/PSD-95 (By similarity)
Subcellular location: Cell membrane; Peripheral membrane protein (By similarity). Cell junction, synapse, postsynaptic
cell membrane, postsynaptic density (By similarity). Cell junction, synapse (By similarity). Note=Postsynaptic density
of neuronal cells (By similarity)
Sequence caution: Sequence=EAW51475.1; Type=Erroneous gene model prediction;
Secondary accessions: A1QCF8 A1QCF9 A5D8Y2 O14488 O14664 Q9P1A7
Alternative splicing: 3 isoforms:  Q9P1A6-1   Q9P1A6-2   Q9P1A6-3   

Explore the universe of human proteins at neXtProt for DLGAP2: NX_Q9P1A6

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9P1A6

  • DLGAP2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_004736.2  
    ENSEMBL proteins: 
     ENSP00000400258   ENSP00000430563  

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    Uscn Proteins for DLGAP2

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005883neurofilament NAS10759891
    GO:0005886plasma membrane IEA--
    GO:0014069postsynaptic density IEA--
    GO:0030054cell junction IEA--
    GO:0030425dendrite ----


    DLGAP2 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    DLGAP2 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR005026 GKAP

    Graphical View of Domain Structure for InterPro Entry Q9P1A6

    ProtoNet protein and cluster: Q9P1A6

    1 Blocks protein family: IPB005026 Guanylate-kinase-associated protein

    UniProtKB/Swiss-Prot: DLGP2_HUMAN, Q9P1A6
    Similarity: Belongs to the SAPAP family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: DLGP2_HUMAN, Q9P1A6
    Function: May play a role in the molecular organization of synapses and neuronal cell signaling. Could be an adapter
    protein linking ion channel to the subsynaptic cytoskeleton. May induce enrichment of PSD-95/SAP90 at the plasma
    membrane

         Genatlas biochemistry entry for DLGAP2:
    Drosophila discslarge homolog-associated protein 2,binding the guanylate kinase-like domains of DLG2,DLG4,localized at
    postsynaptic density (PSD) in neuronal cells

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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI17474147
    GO:0019904protein domain specific binding ----


    DLGAP2 for ontologies           About GeneDecksing



    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for DLGAP2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/30 Interacting proteins for DLGAP2 (Q9P1A61, 2, 3 ENSP000004002584) via UniProtKB, MINT, STRING, and/or I2D (see all 30)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ABL1P005192, 3, ENSP000003614234MINT-8114525 I2D: score=2 STRING: ENSP00000361423
    PIK3R1P279862, 3, ENSP000002743354MINT-8111835 I2D: score=2 STRING: ENSP00000274335
    SRCP129312, 3, ENSP000003509414MINT-8112987 I2D: score=2 STRING: ENSP00000350941
    NCK1P163331, 3, ENSP000002889864EBI-1753397,EBI-3448658 I2D: score=2 STRING: ENSP00000288986
    GRB2P629931, 3, ENSP000003390074EBI-1753397,EBI-401755 I2D: score=2 STRING: ENSP00000339007
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007270neuron-neuron synaptic transmission NAS9694864


    DLGAP2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for DLGAP2
    Search CenterWatch for drugs/clinical trials and news about DLGAP2 / DLGP2 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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    About This Section

    REFSEQ mRNAs for DLGAP2 gene: 
    NM_004745.3  

    Unigene Cluster for DLGAP2:

    Discs, large (Drosophila) homolog-associated protein 2
    Hs.113287  [show with all ESTs]
    Unigene Representative Sequence: AF119818
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000421627(uc003wpl.3 uc003wpm.3) ENST00000520901 ENST00000522499
    ENST00000524065 ENST00000518530

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    hsa-miR-1321 hsa-miR-106a hsa-miR-146a hsa-miR-3921 hsa-miR-3162-5p hsa-miR-502-3p hsa-miR-3622b-3p hsa-miR-637
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    Additional cDNA sequence: 

    AB000275.1 AF009204.1 AF119817.1 AF119818.1 BC141862.1 

    4 DOTS entries:

    DT.110719  DT.303800  DT.438271  DT.75124811 

    24/43 AceView cDNA sequences (see all 43):

    AI025572 BX090471 AA994129 BX100279 AA444121 AB000275 NM_004745 AW275068 
    F09956 AF119817 AW104175 AA758862 H49975 AA928235 BG150231 AA922186 
    AI480245 AI968351 AA905334 D82009 AA443942 BX493715 AF119818 BF059525 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    DLGAP2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CCCCAGCCCC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See DLGAP2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DLGAP2

    SOURCE GeneReport for Unigene cluster: Hs.113287

    UniProtKB/Swiss-Prot: DLGP2_HUMAN, Q9P1A6
    Tissue specificity: Expressed in brain and kidney

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for DLGAP2 gene from 6/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dlgap21 , 5 discs, large (Drosophila) homolog-associated protein more1, 5 82.63(n)1
    89.33(a)1
      8 (6.51 cM)5
    2443101  NM_172910.31  NP_766498.21 
     140958655 
    chicken
    (Gallus gallus)
    Aves DLGAP21 discs, large (Drosophila) homolog-associated protein more 78.38(n)
    88.74(a)
      421903  XM_003641043.1  XP_003641091.1 
    lizard
    (Anolis carolinensis)
    Reptilia DLGAP26
    --
    86(a)
    1 ↔ 1
    1(158852330-158945044)
    zebrafish
    (Danio rerio)
    Actinopterygii dlgap21 discs, large (Drosophila) homolog-associated protein more 72.06(n)
    75.56(a)
      557621  XM_680713.4  XP_685805.4 
    fruit fly
    (Drosophila melanogaster)
    Insecta vlc6
    vulcan
    14(a)
    1 → many
    2R(1589605-1592944)
    worm
    (Caenorhabditis elegans)
    Secernentea W03A5.46
    Protein W03A5.4
    16(a)
    1 → many
    III(5431368-5434428)


    ENSEMBL Gene Tree for DLGAP2 (if available)
    TreeFam Gene Tree for DLGAP2 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for DLGAP2 gene
    DLGAP42  DLGAP12  DLGAP32  DLGAP52  
    4 SIMAP similar genes for DLGAP2 using alignment to 2 protein entries:     DLGP2_HUMAN (see all proteins):
    ERICH1-AS1    DLGAP3    DLGAP4    DLGAP1

    DLGAP2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/6283 NCBI SNPs in DLGAP2 are shown (see all 6283    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1139913271,2
    C,F,--1368636(+) ACACTT/GAAGTG 1 -- ds50011Minor allele frequency- G:0.03NA 120
    rs763768341,2
    F,--1368678(+) TTTTGT/AGGACA 1 -- ds50011Minor allele frequency- A:0.06WA 118
    rs132524561,2
    A--1369108(+) ggagaT/Ccgtga 1 -- nc-transcript-variant2Minor allele frequency- C:0.25NA 4
    rs779230791,2
    --1369194(+) AGACCG/ATGATC 1 -- nc-transcript-variant1Minor allele frequency- A:0.50NA 2
    rs1174111881,2
    C,F,--1369351(+) GCAATG/TTACTT 1 -- int11Minor allele frequency- T:0.03NA 120
    rs753067751,2
    --1369429(+) CATAGC/TTTCTC 1 -- int10--------
    rs801243431,2
    F,--1369454(+) CGTTAG/CAATCG 1 -- int11Minor allele frequency- C:0.05WA 118
    rs580684111,2
    F,--1369459(+) GAATCG/CCTGAG 1 -- int11Minor allele frequency- C:0.07WA 118
    rs69901561,2
    C,F,--1369956(+) AAGTGG/TTCTCC 1 -- int11Minor allele frequency- T:0.15WA 118
    rs736712391,2
    C,--1370326(+) TGGAAG/TTAAAC 1 -- int12Minor allele frequency- T:0.04WA 120

    HapMap Linkage Disequilibrium report for DLGAP2 (1449532 - 1656642 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 31 variations for DLGAP2
         15/20 CNVs (see all 20): 82396 100240 70191 95124 82398 100241 70189 70190 70193 100243 95123 70194 70195 52449 2112
         11 Indels: 47504 12997 95120 28860 82395 47506 34325 28851 47507 95121 34315
    Human Gene Mutation Database (HGMD): DLGAP2

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    DLGAP2 for disorders           About GeneDecksing

    OMIM gene information: 605438    OMIM disorders: --

    3 diseases for DLGAP2:    About MalaCards
    autism spectrum disorder    neuronitis    schizophrenia

    Human Genome Epidemiology (HuGE) Navigator: DLGAP2 (6 documents)

    Export disorders for DLGAP2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for DLGAP2 gene, integrated from 9 sources (see all 25):
    (articles sorted by number of sources associating them with DLGAP2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Positional cloning and characterization of the human DLGAP2 gene and its exclusion in progressive epilepsy with mental retardation. (PubMed id 10854099)1, 2, 3 Ranta S.... Lehesjoki A.-E. (2000)
    2. DAP-1, a novel protein that interacts with the guanylate kinase-like domains of hDLG and PSD-95. (PubMed id 9286858)1, 2, 3 Satoh K....Akiyama T. (1997)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    4. Functional impact of global rare copy number variatio n in autism spectrum disorders. (PubMed id 20531469)1 Pinto D....Betancur C. (2010)
    5. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1 Bailey S.D....Anand S. (2010)
    6. Recurrent rearrangements in synaptic and neurodevelop mental genes and shared biologic pathways in schizophrenia, autism, and mental retardation. (PubMed id 19736351)1 Guilmatre A....Campion D. (2009)
    7. Gene-centric association signals for lipids and apoli poproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)1 Talmud P.J.... . (2009)
    8. Computational and experimental identification of nove l human imprinted genes. (PubMed id 18055845)1 Luedi P.P....Hartemink A.J. (2007)
    9. Systematic identification of SH3 domain-mediated human protein-protein interactions by peptide array target screening. (PubMed id 17474147)1 Wu C....Li S.S. (2007)
    10. DNA sequence and analysis of human chromosome 8. (PubMed id 16421571)2 Nusbaum C....Lander E.S. (2006)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 9228 HGNC: 2906 AceView: DLGAP2 Ensembl:ENSG00000198010 euGenes: HUgn9228
    ECgene: DLGAP2 H-InvDB: DLGAP2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
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    About This Section
    NameDescription
    PharmGKB entry for DLGAP2 Pharmacogenomics, SNPs, Pathways

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    Patent Information for DLGAP2 gene:
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