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    Dock8 dedicator of cytokinesis 8 [ Rattus norvegicus (Norway rat) ]

    Gene ID: 499337, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Dock8provided by RGD
    Official Full Name
    dedicator of cytokinesis 8provided by RGD
    Primary source
    RGD:1561588
    See related
    EnsemblRapid:ENSRNOG00000015894 AllianceGenome:RGD:1561588
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Summary
    Predicted to enable guanyl-nucleotide exchange factor activity. Predicted to be involved in several processes, including positive regulation of GTPase activity; positive regulation of T cell migration; and positive regulation of establishment of T cell polarity. Predicted to act upstream of or within several processes, including dendritic cell migration; immunological synapse formation; and memory T cell proliferation. Predicted to be located in cytosol and leading edge membrane. Predicted to be active in cell leading edge. Used to study type 1 diabetes mellitus. Human ortholog(s) of this gene implicated in atopic dermatitis; bacterial infectious disease; hyper IgE recurrent infection syndrome 2; immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome; and viral infectious disease (multiple). Orthologous to human DOCK8 (dedicator of cytokinesis 8). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in Thymus (RPKM 253.2), Spleen (RPKM 242.5) and 7 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Dock8 in Genome Data Viewer
    Location:
    1q51
    Exon count:
    50
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 1 NC_086019.1 (232075468..232268830)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 1 NC_051336.1 (222649309..222842474)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 1 NC_005100.4 (242934685..243153472)

    Chromosome 1 - NC_086019.1Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102556915 Neighboring gene Zn regulated GTPase metalloprotein activator 1A Neighboring gene uncharacterized LOC134483982 Neighboring gene uncharacterized LOC134483983 Neighboring gene high mobility group protein B1-like Neighboring gene small nucleolar RNA SNORA24 Neighboring gene uncharacterized LOC102554752 Neighboring gene KN motif and ankyrin repeat domains 1 Neighboring gene RAN, member RAS oncogene family, pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Additional diverse findings expand the clinical presentation of DOCK8 deficiency. Sanal O, et al. J Clin Immunol, 2012 Aug. PMID 22476911, Free PMC Article
    2. A novel Dock8 gene mutation confers diabetogenic susceptibility in the LEW.1AR1/Ztm-iddm rat, an animal model of human type 1 diabetes. Arndt T, et al. Diabetologia, 2015 Dec. PMID 26363782
    3. DOCK8 Deficiency Presenting as an IPEX-Like Disorder. Alroqi FJ, et al. J Clin Immunol, 2017 Nov. PMID 29058101, Free PMC Article
    4. Deficient T Cell Receptor Excision Circles (TRECs) in autosomal recessive hyper IgE syndrome caused by DOCK8 mutation: implications for pathogenesis and potential detection by newborn screening. Dasouki M, et al. Clin Immunol, 2011 Nov. PMID 21763205, Free PMC Article
    5. Clinical, immunologic and genetic profiles of DOCK8-deficient patients in Kuwait. Al-Herz W, et al. Clin Immunol, 2012 Jun. PMID 22534316, Free PMC Article

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The Dock8 mutation gave rise to a new type 1 diabetes rat model with very close similarity to type 1 diabetes in humans
      Title: A novel Dock8 gene mutation confers diabetogenic susceptibility in the LEW.1AR1/Ztm-iddm rat, an animal model of human type 1 diabetes.
    Submit: New GeneRIF Correction

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC116414

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables guanyl-nucleotide exchange factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables guanyl-nucleotide exchange factor activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in cellular response to chemokine ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within dendritic cell migration ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in dendritic cell migration ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within immunological synapse formation ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within memory T cell proliferation ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within negative regulation of T cell apoptotic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of GTPase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of T cell migration IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of T cell migration ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of establishment of T cell polarity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of establishment of T cell polarity ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of Rho protein signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in small GTPase-mediated signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cell leading edge IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cell leading edge ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in leading edge membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    dedicator of cytokinesis protein 8

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001037793.2 → NP_001032882.2  dedicator of cytokinesis protein 8

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000001
      UniProtKB/TrEMBL
      A0A8I6A829, F1LPG2
      Related
      ENSRNOP00000015668.6, ENSRNOT00000015668.9
      Conserved Domains (3) summary
      cd08696
      Location:559 → 739
      C2_Dock-C; C2 domains found in Dedicator Of CytoKinesis (Dock) class C proteins
      cd11701
      Location:1636 → 2057
      DHR2_DOCK8; Dock Homology Region 2, a GEF domain, of Class C Dedicator of Cytokinesis 8
      pfam11878
      Location:73 → 164
      DUF3398; Domain of unknown function (DUF3398)

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086019.1 Reference GRCr8

      Range
      232075468..232268830
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_063271698.1 → XP_063127768.1  dedicator of cytokinesis protein 8 isoform X2

    2. XM_008760310.4 → XP_008758532.1  dedicator of cytokinesis protein 8 isoform X1

      See identical proteins and their annotated locations for XP_008758532.1

      UniProtKB/TrEMBL
      A0A8I6GJ78
      Conserved Domains (3) summary
      cd08696
      Location:491 → 671
      C2_Dock-C; C2 domains found in Dedicator Of CytoKinesis (Dock) class C proteins
      cd11701
      Location:1568 → 1989
      DHR2_DOCK8; Dock Homology Region 2, a GEF domain, of Class C Dedicator of Cytokinesis 8
      pfam11878
      Location:5 → 96
      DUF3398; Domain of unknown function (DUF3398)
    Nucleotide Protein Strain
    Heading Accession and Version

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