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DBN1 Gene

protein-coding   GIFtS: 61
GCID: GC05M176883

Drebrin 1


(Previous symbol: D0S117E)
  See DBN1-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Drebrin 11 2     Drebrin E2
D0S117E1 2 3     Drebrin E22
Developmentally-Regulated Brain Protein2 3     drebrin-12
drebrin2     

External Ids:    HGNC: 26951   Entrez Gene: 16272   Ensembl: ENSG000001137587   OMIM: 1266605   UniProtKB: Q166433   

Export aliases for DBN1 gene to outside databases

Previous GC identifers: GC05M177180 GC05M177726 GC05M176819 GC05M176865 GC05M176867 GC05M176816 GC05M171803


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for DBN1 Gene:
The protein encoded by this gene is a cytoplasmic actin-binding protein thought to play a role in the process of
neuronal growth. It is a member of the drebrin family of proteins that are developmentally regulated in the
brain. A decrease in the amount of this protein in the brain has been implicated as a possible contributing
factor in the pathogenesis of memory disturbance in Alzheimer's disease. At least two alternative splice variants
encoding different protein isoforms have been described for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for DBN1 Gene:
DBN1 (drebrin 1) is a protein-coding gene. Diseases associated with DBN1 include schizophrenia. GO annotations related to this gene include actin binding and profilin binding. An important paralog of this gene is HCLS1.

UniProtKB/Swiss-Prot: DREB_HUMAN, Q16643
Function: Drebrins might play some role in cell migration, extension of neuronal processes and plasticity of
dendrites. Required for actin polymerization at immunological synapses (IS) and for CXCR4 recruitement to IS

Gene Wiki entry for DBN1 Gene


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000005.9  NT_023133.14  NC_018916.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the DBN1 gene promoter:
         GCNF-1   GCNF   GCNF-2   E47   Egr-4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDBN1 promoter sequence
   Search Chromatin IP Primers for DBN1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DBN1


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

Entrez Gene cytogenetic band: 5q35.3   Ensembl cytogenetic band:  5q35.3   HGNC cytogenetic band: 5q35.3

DBN1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DBN1 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M176883:  view genomic region     (about GC identifiers)

Start:
176,883,609 bp from pter      End:
176,901,402 bp from pter
Size:
17,794 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: DREB_HUMAN, Q16643 (See protein sequence)
Recommended Name: Drebrin  
Size: 649 amino acids; 71429 Da
Subunit: Binds F-actin. Interacts with CXCR4; this interaction is enhanced by antigenic stimulation
Secondary accessions: A8MV58 B2RBG0 Q9UFZ5
Alternative splicing: 3 isoforms:  Q16643-1   Q16643-2   Q16643-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for DBN1: NX_Q16643

Explore proteomics data for DBN1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See DBN1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_004386.2  NP_543157.1  

    ENSEMBL proteins: 
     ENSP00000308532   ENSP00000292385   ENSP00000377195   ENSP00000423208   ENSP00000422854  
     ENSP00000425546   ENSP00000421465   ENSP00000377193  

    DBN1 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for DBN1
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    OriGene Custom Protein Services for DBN1
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    Novus Biologicals DBN1 Protein
    Novus Biologicals DBN1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for DBN1

     
    Search eBioscience for Proteins for DBN1 

     
    antibodies-online proteins for DBN1 (4 products) 

     
    Search antibodies-online for peptides for DBN1

    DBN1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of DBN1
    R&D Systems Antibodies for DBN1 (Drebrin 1)
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    antibodies-online antibodies for DBN1 (49 products) 

    DBN1 Assay Products:

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    Cloud-Clone Corp. ELISAs for DBN1
    Cloud-Clone Corp. CLIAs for DBN1
    Search eBioscience for ELISAs for DBN1 
    antibodies-online kits for DBN1 (10 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR002108 Actin-bd_cofilin/tropomyosin
     IPR028438 Drebrin

    Graphical View of Domain Structure for InterPro Entry Q16643

    ProtoNet protein and cluster: Q16643

    1 Blocks protein domain: IPB002108 Actin-binding

    UniProtKB/Swiss-Prot: DREB_HUMAN, Q16643
    Similarity: Contains 1 ADF-H domain


    Find genes that share domains with DBN1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DREB_HUMAN, Q16643
    Function: Drebrins might play some role in cell migration, extension of neuronal processes and plasticity of
    dendrites. Required for actin polymerization at immunological synapses (IS) and for CXCR4 recruitement to IS

         Genatlas biochemistry entry for DBN1:
    drebrin,actin binding protein involved in neuronal growth,developmentally regulated,embryonic isoforms E1,E2

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding NAS12761245
    GO:0005515protein binding IPI--
    GO:0005522profilin binding ISS--
         
    Find genes that share ontologies with DBN1           About GenesLikeMe


    Phenotypes:
         6 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Dbn1):
     adipose tissue  behavior/neurological  growth/size/body  hematopoietic system  homeostasis/metabolism 
     no phenotypic analysis 

    Find genes that share phenotypes with DBN1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Dbn1tm1.1Shira for DBN1

       genOway: Develop your customized and physiologically relevant rodent model for DBN1

    miRNA
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    miRTarBase miRNAs that target DBN1:
    hsa-mir-186-5p (MIRT045157), hsa-mir-877-3p (MIRT037119), hsa-mir-155-5p (MIRT020934), hsa-mir-615-3p (MIRT039919), hsa-mir-1 (MIRT024053), hsa-mir-222-3p (MIRT046733), hsa-mir-18a-3p (MIRT040871), hsa-mir-149-5p (MIRT045543)

    Block miRNA regulation of human, mouse, rat DBN1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate DBN1 (see all 34):
    hsa-miR-4307 hsa-miR-517a hsa-miR-517c hsa-miR-1260b hsa-miR-218 hsa-miR-3167 hsa-miR-3649 hsa-miR-520g
    SwitchGear 3'UTR luciferase reporter plasmidDBN1 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for DBN1
    Predesigned siRNA for gene silencing in human, mouse, rat DBN1

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 2): DBN1 (NM_004395)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DBN1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DBN1
    Addgene plasmids for DBN1 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DBN1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    DREB_HUMAN, Q16643: Cytoplasm. Cytoplasm, cell cortex. Cell junction. Note=In the absence of antigen, evenly
    distributed throughout subcortical regions of the T-cell membrane and cytoplasm. In the presence of antigen,
    distributes to the immunological synapse forming at the T cell-APC contact area, where it localizes at the
    peripheral and distal supramolecular activation clusters (SMAC)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    cytosol2
    nucleus2
    plasma membrane2

    Gene Ontology (GO): Selected cellular component terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005737cytoplasm NAS12009525
    GO:0005886plasma membrane IEA--
    GO:0005911cell-cell junction ----
    GO:0005921gap junction IEA--

    Find genes that share ontologies with DBN1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for DBN1 About    
    See pathways by source

    SuperPathContained pathways About
    1Signaling in Gap Junctions
    Signaling in Gap Junctions0.31
    2Neuroscience
    Neuroscience
    3Cytoskeletal Signaling
    Cytoskeletal Signaling


    Find genes that share SuperPaths with DBN1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for DBN1
        Signaling in Gap Junctions

    2 Cell Signaling Technology (CST) Pathways for DBN1
        Neuroscience
    Cytoskeletal Signaling


        Pathway & Disease-focused RT2 Profiler PCR Array including DBN1: 
              Gap Junctions in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for DBN1

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

    Selected Interacting proteins for DBN1 (Q166431, 2, 3 ENSP000002923854) via UniProtKB, MINT, STRING, and/or I2D (see all 92)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TPT1P136932, 3, ENSP000003683504MINT-8275171 I2D: score=2 STRING: ENSP00000368350
    BAK1Q166112, 3MINT-8249245 I2D: score=2 
    BTRCQ9Y2972, 3MINT-8249707 I2D: score=2 
    CDK2AP2O759562, 3MINT-8251175 I2D: score=2 
    DUSP23Q9BVJ72, 3MINT-8254622 I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007015actin filament organization ISS--
    GO:0007399nervous system development ----
    GO:0010643cell communication by chemical coupling IEA--
    GO:0010644cell communication by electrical coupling IEA--
    GO:0032507maintenance of protein location in cell IEA--

    Find genes that share ontologies with DBN1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for DBN1 (DREB)

    4 Novoseek inferred chemical compound relationships for DBN1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glutamate 21.6 6 16368245 (3), 17590478 (1), 19339553 (1)
    nmda 19.1 3 16368245 (3)
    retinoic acid 4.57 1 8078100 (1)
    calcium 0 2 19948240 (2)



    Find genes that share compounds with DBN1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for DBN1 gene (2 alternative transcripts): 
    NM_004395.3  NM_080881.2  

    Unigene Cluster for DBN1:

    Drebrin 1
    Hs.130316  [show with all ESTs]
    Unigene Representative Sequence: NM_080881
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000309007(uc011dga.1 uc003mgy.2 uc010jkn.1) ENST00000292385(uc003mgx.2)
    ENST00000472831 ENST00000393565(uc003mgz.1) ENST00000512501 ENST00000467054
    ENST00000477391 ENST00000471767 ENST00000506117 ENST00000514833 ENST00000505550
    ENST00000393563
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate DBN1 (see all 34):
    hsa-miR-4307 hsa-miR-517a hsa-miR-517c hsa-miR-1260b hsa-miR-218 hsa-miR-3167 hsa-miR-3649 hsa-miR-520g
    SwitchGear 3'UTR luciferase reporter plasmidDBN1 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 2): DBN1 (NM_004395)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DBN1
    Addgene plasmids for DBN1 
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for DBN1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat DBN1
      QuantiTect SYBR Green Assays in human, mouse, rat DBN1
      QuantiFast Probe-based Assays in human, mouse, rat DBN1

    Additional mRNA sequence: 

    AK094125.1 AK225523.1 AK295295.1 AK314645.1 AL110225.1 BC000283.1 BC007281.1 BC007567.1 
    BC114553.1 D17530.1 U00802.1 

    22 DOTS entries:

    DT.456300  DT.100662726  DT.100817464  DT.97844144  DT.100027314  DT.95171424  DT.100817454  DT.100817469 
    DT.100657865  DT.100687880  DT.100817461  DT.120810927  DT.97791817  DT.100817471  DT.100733779  DT.100817467 
    DT.120810907  DT.120810958  DT.95171422  DT.95171430  DT.100663063  DT.99992448 

    Selected AceView cDNA sequences (see all 255):

    BF338628 BF515686 AI904931 BP872369 AI637966 AK094125 BE797393 BQ057914 
    AA903534 BM558409 BM918417 BQ950648 AU141639 T28437 BX952568 BQ954237 
    AA853109 BM837519 BI829141 BI831134 BQ918816 T08014 BF924338 BQ881944 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for DBN1 (see all 6)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15a · 15b ^ 16 ^ 17a · 17b · 17c
    SP1:                          -                                         -           -                                                   
    SP2:        -     -           -                                         -           -                                                   
    SP3:        -     -           -                                         -           -                                                   
    SP4:                                                                                -                                                   
    SP5:                                                                                                                                    


    ECgene alternative splicing isoforms for DBN1

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    DBN1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCAATAAATG
    DBN1 Expression
    About this image


    DBN1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Heart (Cardiovascular System)    fully expand to see all 2 entries
             Cushion Mesenchymal Cells Endocardium
     
     Blood (Cardiovascular System)
             Conventional Dendritic Cells I Spleen
     
     Spleen (Hematopoietic System)
             Conventional Dendritic Cells I Spleen
     
     Uterus (Reproductive System)
    DBN1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DBN1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.130316

    UniProtKB/Swiss-Prot: DREB_HUMAN, Q16643
    Tissue specificity: Brain neurons. Also found in the heart, placenta, skeletal muscle, kidney and pancreas.
    Expressed in peripheral blood lymphocytes, including T-cells (at protein level)

        Pathway & Disease-focused RT2 Profiler PCR Array including DBN1: 
              Gap Junctions in human mouse rat

    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat DBN1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DBN1

    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for DBN1 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dbn11 , 5 drebrin 11, 5 85.63(n)1
    88.24(a)1
      13 (30.06 cM)5
    563201  NM_001177371.11  NP_001170842.11 
     554734295 
    chicken
    (Gallus gallus)
    Aves DBN11 drebrin 1 70.88(n)
    68.17(a)
      396496  NM_205499.1  NP_990830.1 
    lizard
    (Anolis carolinensis)
    Reptilia DBN16
    drebrin 1
    62(a)
    1 ↔ 1
    2(145714777-145770016)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.243192 Xenopus laevis transcribed sequence with weak similarity to protein spQ16643 (H.sapiens) DREB_HUMAN Drebrin (Developmentally regulated brain protein) less 73.73(n)    BX852608.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5611531 drebrin-like 64.72(n)
    62(a)
      561153  XM_005173882.1  XP_005173939.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG100836
    --
    19(a)
    1 → many
    3L(13476633-13479380)
    worm
    (Caenorhabditis elegans)
    Secernentea K08E3.46
    Protein K08E3.4 (K08E3.4) mRNA, complete cds
    17(a)
    1 → many
    III(13759445-13762069) WBGene00010664


    ENSEMBL Gene Tree for DBN1 (if available)
    TreeFam Gene Tree for DBN1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for DBN1 gene
    HCLS12  DBNL2  CTTN2  
    1 SIMAP similar gene for DBN1 using alignment to 7 protein entries:     DREB_HUMAN (see all proteins):
    DBNL

    Find genes that share paralogs with DBN1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for DBN1 (see all 435)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0359114
    A breast cancer sample4--see VAR_0359112 E Q mis40--------
    VAR_0359104
    A breast cancer sample4--see VAR_0359102 E K mis40--------
    rs10613791,2
    C,F,H--176883864(-) CCCAGC/TTGGGG 2 -- ut31 ese36Minor allele frequency- T:0.01MN NS 1198
    rs728151091,2
    C--176883990(+) ATCTGA/GAGCCC 2 -- ut310--------
    rs1894180851,2
    --176883998(+) CCCTGC/GACAGA 2 -- ut310--------
    rs1474158821,2
    --176884036(+) ACATAA/GAACTA 2 -- ut310--------
    rs1118346171,2
    C,F--176884161(+) ACCAGG/AGAAGG 2 -- ut311Minor allele frequency- A:0.50CSA 4
    rs2003346981,2
    --176884533(+) AGTTAA/GGGACC 2 -- int10--------
    rs798530901,2
    C,F--176884641(+) ATCATC/TCAGCC 2 -- int12Minor allele frequency- T:0.01WA EU 711
    rs1814263921,2
    C--176884677(+) GAACAC/GAGGAG 4 L V mis10--------

    HapMap Linkage Disequilibrium report for DBN1 (176883609 - 176901402 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for DBN1 (see all 16):    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv1010e201CNV Deletion23290073
    esv2731196CNV Deletion23290073
    esv1004774CNV Deletion20482838
    esv2731198CNV Deletion23290073
    dgv6383n71CNV Loss21882294
    nsv883172CNV Loss21882294
    nsv883164CNV Loss21882294
    nsv515805CNV Loss19592680
    dgv6381n71CNV Loss21882294
    nsv883178CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing DBN1
    DNA2.0 Custom Variant and Variant Library Synthesis for DBN1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 126660    OMIM disorders: --

    1 disease for DBN1:    
    About MalaCards
    schizophrenia

    2 diseases from the University of Copenhagen DISEASES database for DBN1:
    Down syndrome     Alzheimer's disease

    Find genes that share disorders with DBN1           About GenesLikeMe

    5 Novoseek inferred disease relationships for DBN1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    down syndrome 55 8 12009525 (2), 20183806 (1), 15484828 (1), 15140563 (1) (see all 5)
    alzheimers disease 47.2 11 12009525 (2), 8838578 (2), 20183806 (1), 15484828 (1) (see all 7)
    encephalopathy 14.7 1 11771761 (1)
    schizophrenia 0 2 16402129 (1)
    dementia 0 1 10374754 (1)

    Genetic Association Database (GAD): DBN1

    Export disorders for DBN1 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)
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    PubMed articles for DBN1 gene, integrated from 10 sources (see all 122):
    (articles sorted by number of sources associating them with DBN1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning of cDNA encoding human drebrin E and chromosomal mapping of its gene. (PubMed id 8216329)1, 2, 3, 9 Toda M.... Uyemura K. (Biochem. Biophys. Res. Commun. 1993)
    2. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    5. Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. (PubMed id 12665801)1, 2 Gevaert K.... Vandekerckhove J. (Nat. Biotechnol. 2003)
    6. Cell biological and biochemical characterization of drebrin complexes in mesangial cells and podocytes of renal glomeruli. (PubMed id 12761245)1, 9 Peitsch W.K....Franke W.W. (J. Am. Soc. Nephrol. 2003)
    7. Drebrin, a dendritic spine protein, is manifold decreased in brains of patients with Alzheimer's disease and Down syndrome. (PubMed id 12009525)1, 9 Shim K.S. and Lubec G. (Neurosci. Lett. 2002)
    8. The roles of microfilament-associated proteins, drebrins, in brain morphogenesis: a review. (PubMed id 7608104)1, 9 Shirao T. (J. Biochem. 1995)
    9. Dynamics of the actin-binding protein drebrin in motile cells and definition of a juxtanuclear drebrin-enriched zone. (PubMed id 16780834)1, 9 Peitsch W.K....Franke W.W. (Exp. Cell Res. 2006)
    10. Drebrin is a widespread actin-associating protein enriched at junctional plaques, defining a specific microfilament anchorage system in polar epithelial cells. (PubMed id 10604653)1, 9 Peitsch W.K....Franke W.W. (Eur. J. Cell Biol. 1999)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 1627 HGNC: 2695 AceView: DBN1 Ensembl:ENSG00000113758 euGenes: HUgn1627
    ECgene: DBN1 H-InvDB: DBN1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for DBN1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for DBN1 gene:
    Search GeneIP for patents involving DBN1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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