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DOCK3 Gene

protein-coding   GIFtS: 61
GCID: GC03P050712

Dedicator Of Cytokinesis 3

(Previous name: dedicator of cyto-kinesis 3)
Alzheimer's & Parkinson's Diseases Congress
  See related diseases
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
Dedicator Of Cytokinesis 31 2     PBP2 3
Modifier Of Cell Adhesion2 3     Dedicator Of Cyto-Kinesis 31
Presenilin-Binding Protein2 3     Dedicator Of Cytokinesis Protein 32
MOCA2 3     KIAA02993

External Ids:    HGNC: 29891   Entrez Gene: 17952   Ensembl: ENSG000000885387   OMIM: 6031235   UniProtKB: Q8IZD93   

Export aliases for DOCK3 gene to outside databases

Previous GC identifers: GC03P050193 GC03M050491 GC03P050670 GC03P050671 GC03P050687


(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 DOCK3 Gene:
This gene is specifically expressed in the central nervous system (CNS). It encodes a member of the DOCK
(dedicator of cytokinesis) family of guanine nucleotide exchange factors (GEFs). This protein, dedicator of
cytokinesis 3 (DOCK3), is also known as modifier of cell adhesion (MOCA) and presenilin-binding protein (PBP).
The DOCK3 and DOCK1, -2 and -4 share several conserved amino acids in their DHR-2 (DOCK homology region 2)
domains that are required for GEF activity, and bind directly to WAVE proteins (Wiskott-Aldrich syndrome protein
(WASP) family Verprolin-homologous proteins) via their DHR-1 domains. The DOCK3 induces axonal outgrowth in CNS
by stimulating membrane recruitment of the WAVE complex and activating the small G protein Rac1. This gene is
associated with an attention deficit hyperactivity disorder-like phenotype by a complex chromosomal
rearrangement. (provided by RefSeq, Aug 2010)

GeneCards Summary for DOCK3 Gene:
DOCK3 (dedicator of cytokinesis 3) is a protein-coding gene. Diseases associated with DOCK3 include urethra cancer, and wiskott-aldrich syndrome. GO annotations related to this gene include SH3 domain binding and guanyl-nucleotide exchange factor activity. An important paralog of this gene is DOCK4.

UniProtKB/Swiss-Prot: DOCK3_HUMAN, Q8IZD9
Function: Potential guanine nucleotide exchange factor (GEF). GEF proteins activate some small GTPases by
exchanging bound GDP for free GTP. Its interaction with presenilin proteins as well as its ability to stimulate
Tau/MAPT phosphorylation suggest that it may be involved in Alzheimer disease. Ectopic expression in nerve cells
decreases the secretion of beta-amyloid APBA1 protein and lowers the rate of cell-substratum adhesion, suggesting
that it may affect the function of some small GTPase involved in the regulation of actin cytoskeleton or cell
adhesion receptors (By similarity)

Gene Wiki entry for DOCK3 (Dock3) 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:
NC_000003.12  NT_022517.19  NC_018914.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the DOCK3 gene promoter:
         c-Fos   AP-1   ATF-2   Nkx2-5   C/EBPalpha   GATA-1   AREB6   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDOCK3 promoter sequence
   Search Chromatin IP Primers for DOCK3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DOCK3


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

Entrez Gene cytogenetic band: 3p21.2   Ensembl cytogenetic band:  3p21.2   HGNC cytogenetic band: 3p21

DOCK3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DOCK3 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P050712:  view genomic region     (about GC identifiers)

Start:
50,712,672 bp from pter      End:
51,421,629 bp from pter
Size:
708,958 bases      Orientation:
plus strand

1 alternative location:
Chr3+,NW_003315910 1,446-5,521     

(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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: DOCK3_HUMAN, Q8IZD9 (See protein sequence)
Recommended Name: Dedicator of cytokinesis protein 3  
Size: 2030 amino acids; 233103 Da
Subunit: Interacts with presenilin proteins PSEN1 and PSEN2. Interacts with CRK (By similarity)
Secondary accessions: O15017

Explore the universe of human proteins at neXtProt for DOCK3: NX_Q8IZD9

Explore proteomics data for DOCK3 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See DOCK3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_004938.1  
    ENSEMBL proteins: 
     ENSP00000266037  
    Reactome Protein details: Q8IZD9

    DOCK3 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 8):
     IPR011511 SH3_2
     IPR027007 DHR-1_domain
     IPR026800 DOCK_B
     IPR026791 DOCK
     IPR001452 SH3_domain

    Graphical View of Domain Structure for InterPro Entry Q8IZD9

    ProtoNet protein and cluster: Q8IZD9

    1 Blocks protein domain: IPB010703 Dedicator of cytokinesis

    UniProtKB/Swiss-Prot: DOCK3_HUMAN, Q8IZD9
    Domain: The DHR-2 domain may mediate some GEF activity (By similarity)
    Similarity: Belongs to the DOCK family
    Similarity: Contains 1 DHR-1 domain
    Similarity: Contains 1 DHR-2 domain
    Similarity: Contains 1 SH3 domain


    DOCK3 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, 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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DOCK3_HUMAN, Q8IZD9
    Function: Potential guanine nucleotide exchange factor (GEF). GEF proteins activate some small GTPases by
    exchanging bound GDP for free GTP. Its interaction with presenilin proteins as well as its ability to stimulate
    Tau/MAPT phosphorylation suggest that it may be involved in Alzheimer disease. Ectopic expression in nerve cells
    decreases the secretion of beta-amyloid APBA1 protein and lowers the rate of cell-substratum adhesion, suggesting
    that it may affect the function of some small GTPase involved in the regulation of actin cytoskeleton or cell
    adhesion receptors (By similarity)

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005085guanyl-nucleotide exchange factor activity IEA--
    GO:0005488binding ----
    GO:0005515protein binding IPI17474147
    GO:0017124SH3 domain binding IEA--
         
    DOCK3 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for DOCK3:
     Increased gamma-H2AX phosphory 

         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Dock3):
     behavior/neurological  hematopoietic system  immune system  muscle  nervous system 

    DOCK3 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DOCK3
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for DOCK3

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for DOCK3
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for DOCK3

    miRNA
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    miRTarBase miRNAs that target DOCK3:
    hsa-mir-186-5p (MIRT045048)

    Block miRNA regulation of human, mouse, rat DOCK3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate DOCK3 (see all 92):
    hsa-miR-548j hsa-miR-100* hsa-miR-607 hsa-miR-4254 hsa-miR-631 hsa-miR-605 hsa-miR-3122 hsa-miR-4274
    SwitchGear 3'UTR luciferase reporter plasmidDOCK3 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Predesigned siRNA for gene silencing in human, mouse, rat DOCK3

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    GenScript: all cDNA clones in your preferred vector: DOCK3 (NM_004947)
    Browse Sino Biological Human cDNA Clones
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    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat DOCK3

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DOCK3


    (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
    DOCK3_HUMAN, Q8IZD9: Cytoplasm (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    plasma membrane3
    cytoskeleton1
    endoplasmic reticulum1
    peroxisome1
    vacuole1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--

    DOCK3 for ontologies           About GeneDecksing


    (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 DOCK3 About    
    See pathways by source

    SuperPathContained pathways About
    1Hemostasis
    Hemostasis0.43
    2Presenilin-Mediated Signaling
    Presenilin-Mediated Signaling
    3Factors involved in megakaryocyte development and platelet production
    Factors involved in megakaryocyte development and platelet production
    4BDNF signaling pathway
    BDNF signaling pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for DOCK3
        Presenilin-Mediated Signaling

    1 BioSystems Pathway for DOCK3
        BDNF signaling pathway

    1 Reactome Pathway for DOCK3
        Factors involved in megakaryocyte development and platelet production



    DOCK3 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for DOCK3
    Interactions:

        GeneGlobe Interaction Network for DOCK3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 24)

    Selected Interacting proteins for DOCK3 (Q8IZD91, 2, 3 ENSP000002660374) via UniProtKB, MINT, STRING, and/or I2D (see all 28)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ABL1P005192, 3, ENSP000003614234MINT-8110263 I2D: score=3 STRING: ENSP00000361423
    FYNP062412, 3, ENSP000003576564MINT-8111163 I2D: score=3 STRING: ENSP00000357656
    PIK3R1P279862, 3, ENSP000002743354MINT-8111883 I2D: score=3 STRING: ENSP00000274335
    CALM1P621583I2D: score=1 
    CALM2P621583I2D: score=1 
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007264small GTPase mediated signal transduction IEA--

    DOCK3 for ontologies           About GeneDecksing



    (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 DOCK3

    3 HMDB Compounds for DOCK3    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine diphosphate5'-GDP (see all 10)146-91-8--
    Guanosine monophosphate5'-GMP (see all 14)85-32-5--
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--



    (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,
    Conferences by KenesGroup, 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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for DOCK3 gene: 
    NM_004947.4  

    Unigene Cluster for DOCK3:

    Dedicator of cytokinesis 3
    Hs.476284  [show with all ESTs]
    Unigene Representative Sequence: NM_004947
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000266037(uc011bds.2)

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat DOCK3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate DOCK3 (see all 92):
    hsa-miR-548j hsa-miR-100* hsa-miR-607 hsa-miR-4254 hsa-miR-631 hsa-miR-605 hsa-miR-3122 hsa-miR-4274
    SwitchGear 3'UTR luciferase reporter plasmidDOCK3 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for DOCK3
    Predesigned siRNA for gene silencing in human, mouse, rat DOCK3
    Clone
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    GenScript: all cDNA clones in your preferred vector: DOCK3 (NM_004947)
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat DOCK3
      QuantiTect SYBR Green Assays in human, mouse, rat DOCK3
      QuantiFast Probe-based Assays in human, mouse, rat DOCK3

    Additional mRNA sequence: 

    AB002297.1 AK310984.1 AY145303.1 AY254099.1 BC037933.2 BC045793.1 BC131746.1 

    4 DOTS entries:

    DT.115136  DT.91674739  DT.95369327  DT.120853303 

    19 AceView cDNA sequences:

    AW899395 AI124838 BU178856 BF959647 CD675268 BF954324 T05544 BU742704 
    BF963323 BM728787 BE700244 AI808258 AY145303 AW893434 BF959528 NM_004947 
    AB002297 AY254099 BF951489 

    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™, 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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    DOCK3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTCAAAATCC
    DOCK3 Expression
    About this image

    DOCK3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DOCK3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.476284

    UniProtKB/Swiss-Prot: DOCK3_HUMAN, Q8IZD9
    Tissue specificity: In normal brains, it is localized in the neuropil, and occasionally in the pyramidal cells,
    while in Alzheimer disease brains, it is associated with neurofibrillary tangles

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DOCK3

    (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 and fungi.

    Orthologs for DOCK3 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dock31 , 5 dedicator of cyto-kinesis 31, 5 91.61(n)1
    98.13(a)1
      9 (57.98 cM)5
    2088691  NM_153413.21  NP_700462.21 
     1068928345 
    chicken
    (Gallus gallus)
    Aves DOCK31 dedicator of cytokinesis 3 82.13(n)
    92.26(a)
      415919  XM_414263.4  XP_414263.4 
    lizard
    (Anolis carolinensis)
    Reptilia DOCK36
    dedicator of cytokinesis 3
    89(a)
    1 ↔ 1
    2(151825165-152070900)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia dock31 dedicator of cytokinesis 3 72.91(n)
    78.34(a)
      100216191  XM_004914333.1  XP_004914390.1 
    zebrafish
    (Danio rerio)
    Actinopterygii dock31 dedicator of cytokinesis 3 75.95(n)
    85.71(a)
      100536057  XM_003201135.2  XP_003201183.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta spg1 sponge 53.2(n)
    45.15(a)
      43404  NM_001276118.1  NP_001263047.1 
    worm
    (Caenorhabditis elegans)
    Secernentea ced-56
    Protein CED-5 (ced-5) mRNA, complete cds
    25(a)
    1 → many
    IV(10484110-10492952) WBGene00000419
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes (YLR422W)4 Protein of unknown function with similarity to human more   --   12(965897-971695) 851141  NP_013526.1 


    ENSEMBL Gene Tree for DOCK3 (if available)
    TreeFam Gene Tree for DOCK3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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    Paralogs for DOCK3 gene
    DOCK42  DOCK12  DOCK22  DOCK52  
    5 SIMAP similar genes for DOCK3 using alignment to 3 protein entries:     DOCK3_HUMAN (see all proteins):
    DOCK4    DOCK2    DKFZp779M164    DOCK1    DOCK5

    DOCK3 for paralogs           About GeneDecksing



    (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 DOCK3 (see all 11533)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs349851761,2
    C,F--50643903(+) GCTATT/CGAGAA 1 -- us2k16Minor allele frequency- C:0.12NA EA 248
    rs730724161,2
    C,F--50643975(+) AGGAGG/AAGCCT 1 -- us2k11Minor allele frequency- A:0.03NA 120
    rs730724181,2
    C,F--50643985(+) TAAAGG/ATCCGA 1 -- us2k15Minor allele frequency- A:0.10WA NA EA 362
    rs1439462401,2
    --50644090(+) GTTGAC/TTGCAA 1 -- us2k10--------
    rs1845182061,2
    --50644447(+) TGGAAA/GGGAGA 1 -- us2k10--------
    rs1486467411,2
    --50644486(+) TGGTTC/GACTTG 1 -- us2k10--------
    rs98404761,2
    C,F,H--50644660(+) GAAGCG/TCTTCC 1 -- us2k114Minor allele frequency- T:0.16NS NA WA CSA EA 1042
    rs1881094381,2
    --50644693(+) TTGTTC/GTGGCC 1 -- us2k10--------
    rs1819940751,2
    --50644855(+) CAGGGC/TGGCTC 1 -- us2k10--------
    rs98252831,2
    C,F,H--50645061(+) TCCGGA/GGTTTG 1 -- us2k113Minor allele frequency- G:0.15NS NA WA CSA EA 1153

    HapMap Linkage Disequilibrium report for DOCK3 (50712672 - 50962672 bp, first 250kb of DOCK3)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for DOCK3 (see all 28):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2725259CNV Deletion23290073
    esv2659536CNV Deletion23128226
    esv2661872CNV Deletion23128226
    esv2677693CNV Deletion23128226
    esv2678842CNV Deletion23128226
    esv2668021CNV Deletion23128226
    esv269530CNV Insertion20981092
    esv1655991CNV Insertion17803354
    esv1442923CNV Insertion17803354
    esv272249CNV Insertion20981092

    Human Gene Mutation Database (HGMD): DOCK3
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing DOCK3
    DNA2.0 Custom Variant and Variant Library Synthesis for DOCK3

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 603123    OMIM disorders: --

    UniProtKB/Swiss-Prot: DOCK3_HUMAN, Q8IZD9
  • Note=A chromosomal aberration involving DOCK3 has been found in a family with early-onset
    behavioral/developmental disorder with features of attention deficit-hyperactivity disorder and intellectual
    disability. Inversion inv(3)(p14:q21). The inversion disrupts DOCK3 and SLC9A9

  • 13 diseases for DOCK3:    
    About MalaCards
    urethra cancer    wiskott-aldrich syndrome    attention deficit hyperactivity disorder    saethre-chotzen syndrome
    autism spectrum disorder    intellectual disability    alzheimer's disease    dementia
    crohn's disease    multiple myeloma    myeloma    neuronitis
    malaria


    DOCK3 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    1 Novoseek inferred disease relationship for DOCK3 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    alzheimers disease 25.2 1 11696419 (1)

    Genetic Association Database (GAD): DOCK3
    Human Genome Epidemiology (HuGE) Navigator: DOCK3 (5 documents)

    Export disorders for DOCK3 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 DOCK3 gene, integrated from 10 sources (see all 28):
    (articles sorted by number of sources associating them with DOCK3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Disruption of a novel member of a sodium/hydrogen exchanger family and DOCK3 is associated with an attention deficit hyperactivity disorder-like phenotype. (PubMed id 14569117)1, 2, 4 De Silva M.G.... Forrest S. (J. Med. Genet. 2003)
    2. Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PubMed id 9205841)1, 2, 3 Nagase T.... Ohara O. (DNA Res. 1997)
    3. Presenilin binding protein is associated with neurofibrillary alterations in Alzheimer's disease and stimulates tau phosphorylation. (PubMed id 11696419)1, 2, 9 Chen Q.... Masliah E. (Am. J. Pathol. 2001)
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    5. Genetic variants in SLC9A9 are associated with measures of attention-deficit/hyperactivity disorder symptoms in families. (PubMed id 20032819)1, 4 Markunas C.A....Ashley-Koch A.E. (Psychiatr. Genet. 2010)
    6. Association analysis of 3p21 with Crohn's disease in a New Zealand population. (PubMed id 20307617)1, 4 Morgan A.R....Ferguson L.R. (Hum. Immunol. 2010)
    7. Hundreds of variants clustered in genomic loci and biological pathways affect human height. (PubMed id 20881960)1, 4 Lango Allen H....Hirschhorn J.N. (Nature 2010)
    8. Candidate gene analysis in an on-going genome-wide association study of attention-deficit hyperactivity disorder: suggestive association signals in ADRA1A. (PubMed id 19352218)1, 4 Elia J....Hakonarson H. (Psychiatr. Genet. 2009)
    9. A common variant in DRD3 receptor is associated with autism spectrum disorder. (PubMed id 19058789)1, 4 de Krom M....van Ree J.M. (Biol. Psychiatry 2009)
    10. Identification of an evolutionarily conserved superfamily of DOCK180- related proteins with guanine nucleotide exchange activity. (PubMed id 12432077)1, 2 Cote J.-F. and Vuori K. (J. Cell Sci. 2002)

    (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: 1795 HGNC: 2989 AceView: DOCK3 Ensembl:ENSG00000088538 euGenes: HUgn1795
    ECgene: DOCK3 H-InvDB: DOCK3

    (According to HUGE)
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    HUGE: KIAA0299

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for DOCK3 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for DOCK3 Genetics and Cytogenetics in Oncology and Haematology

    (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 DOCK3 gene:
    Search GeneIP for patents involving DOCK3

    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, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, 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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