Display Settings:

Format

Send to:

Choose Destination
    • Showing Current items.

    DOCK8 dedicator of cytokinesis 8 [ Homo sapiens (human) ]

    Gene ID: 81704, updated on 15-Jul-2015
    Official Symbol
    DOCK8provided by HGNC
    Official Full Name
    dedicator of cytokinesis 8provided by HGNC
    Primary source
    HGNC:HGNC:19191
    See related
    Ensembl:ENSG00000107099; HPRD:10920; MIM:611432; Vega:OTTHUMG00000078789
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MRD2; ZIR8; HEL-205
    Summary
    This gene encodes a member of the DOCK180 family of guanine nucleotide exchange factors. Guanine nucleotide exchange factors interact with Rho GTPases and are components of intracellular signaling networks. Mutations in this gene result in the autosomal recessive form of the hyper-IgE syndrome. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Jun 2010]
    Orthologs
    See DOCK8 in Epigenomics, MapViewer
    Location:
    9p24.3
    Exon count:
    53
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 9 NC_000009.12 (214865..465259)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (214865..465259)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375942 Neighboring gene COBW domain containing 1 Neighboring gene uncharacterized LOC105375943 Neighboring gene uncharacterized LOC105375946 Neighboring gene chromosome 9 open reading frame 66 Neighboring gene uncharacterized LOC105375945 Neighboring gene uncharacterized LOC105375944 Neighboring gene uncharacterized LOC105375947 Neighboring gene ribosomal protein L12 pseudogene 25 Neighboring gene family with sequence similarity 217, member A pseudogene 1 Neighboring gene KN motif and ankyrin repeat domains 1

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive
    MedGen: C1968689 OMIM: 243700 GeneReviews: Not available
    Compare labs
    Mental retardation, autosomal dominant 2
    MedGen: C3279842 OMIM: 614113 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    New gene functions in megakaryopoiesis and platelet formation.
    NHGRI GWA Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    NHGRI GWA Catalog
    • Factors involved in megakaryocyte development and platelet production, organism-specific biosystem (from REACTOME)
      Factors involved in megakaryocyte development and platelet production, organism-specific biosystemMegakaryocytes (MKs) give rise to circulating platelets (thrombocytes) through terminal differentiation of MKs which release cytoplasmic fragments as circulating platelets. As MKs mature they underg...
    • Hemostasis, organism-specific biosystem (from REACTOME)
      Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ00026, FLJ00152, FLJ00346

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    guanyl-nucleotide exchange factor activity IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    blood coagulation TAS
    Traceable Author Statement
    more info
     
    dendritic cell migration IEA
    Inferred from Electronic Annotation
    more info
     
    immunological synapse formation IEA
    Inferred from Electronic Annotation
    more info
     
    memory T cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of T cell apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of GTPase activity IEA
    Inferred from Electronic Annotation
    more info
     
    small GTPase mediated signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cell leading edge IEA
    Inferred from Electronic Annotation
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    dedicator of cytokinesis protein 8
    Names
    1200017A24Rik
    epididymis luminal protein 205

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_017007.1 RefSeqGene

      Range
      5001..255395
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_196

    mRNA and Protein(s)

    1. NM_001190458.1NP_001177387.1  dedicator of cytokinesis protein 8 isoform 2

      See identical proteins and their annotated locations for NP_001177387.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. This variant also lacks an in-frame exon in the middle portion of the coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AB191037, AK090429, AL583913, AY117695, BC143929, BM680510, BU532484, DB147029
      Consensus CDS
      CCDS55284.1
      UniProtKB/Swiss-Prot
      Q8NF50
      Related
      ENSP00000419438, OTTHUMP00000214870, ENST00000469391, OTTHUMT00000354646
      Conserved Domains (3) summary
      cd08696
      Location:491671
      C2_Dock-C; C2 domains found in Dedicator Of CytoKinesis (Dock) class C proteins
      cd11701
      Location:15361957
      DHR2_DOCK8; Dock Homology Region 2, a GEF domain, of Class C Dedicator of Cytokinesis 8
      pfam11878
      Location:196
      DUF3398; Domain of unknown function (DUF3398)
    2. NM_001193536.1NP_001180465.1  dedicator of cytokinesis protein 8 isoform 3

      See identical proteins and their annotated locations for NP_001180465.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
      Source sequence(s)
      AK090429, AY117695, BC143929, CA503173, HM991479, HM991480
      Consensus CDS
      CCDS55283.1
      UniProtKB/TrEMBL
      E2J6M5
      UniProtKB/TrEMBL
      E2J6M6
      UniProtKB/Swiss-Prot
      Q8NF50
      Related
      ENSP00000408464, ENST00000453981
      Conserved Domains (3) summary
      cd08696
      Location:491671
      C2_Dock-C; C2 domains found in Dedicator Of CytoKinesis (Dock) class C proteins
      cd11701
      Location:15681989
      DHR2_DOCK8; Dock Homology Region 2, a GEF domain, of Class C Dedicator of Cytokinesis 8
      pfam11878
      Location:196
      DUF3398; Domain of unknown function (DUF3398)
    3. NM_203447.3NP_982272.2  dedicator of cytokinesis protein 8 isoform 1

      See identical proteins and their annotated locations for NP_982272.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AB191037, AK090429, CA503173, DR004867
      Consensus CDS
      CCDS6440.2
      UniProtKB/Swiss-Prot
      Q8NF50
      Related
      ENSP00000394888, OTTHUMP00000096442, ENST00000432829, OTTHUMT00000171792
      Conserved Domains (3) summary
      cd08696
      Location:559739
      C2_Dock-C; C2 domains found in Dedicator Of CytoKinesis (Dock) class C proteins
      cd11701
      Location:16362057
      DHR2_DOCK8; Dock Homology Region 2, a GEF domain, of Class C Dedicator of Cytokinesis 8
      pfam11878
      Location:69164
      DUF3398; Domain of unknown function (DUF3398)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p2 Primary Assembly

      Range
      214865..465259
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011518047.1XP_011516349.1  

      See identical proteins and their annotated locations for XP_011516349.1

      UniProtKB/Swiss-Prot
      Q8NF50
      Conserved Domains (3) summary
      cd08696
      Location:491671
      C2_Dock-C; C2 domains found in Dedicator Of CytoKinesis (Dock) class C proteins
      cd11701
      Location:15681989
      DHR2_DOCK8; Dock Homology Region 2, a GEF domain, of Class C Dedicator of Cytokinesis 8
      pfam11878
      Location:196
      DUF3398; Domain of unknown function (DUF3398)
    2. XM_011518045.1XP_011516347.1  

      See identical proteins and their annotated locations for XP_011516347.1

      UniProtKB/Swiss-Prot
      Q8NF50
      Conserved Domains (3) summary
      cd08696
      Location:491671
      C2_Dock-C; C2 domains found in Dedicator Of CytoKinesis (Dock) class C proteins
      cd11701
      Location:15361957
      DHR2_DOCK8; Dock Homology Region 2, a GEF domain, of Class C Dedicator of Cytokinesis 8
      pfam11878
      Location:196
      DUF3398; Domain of unknown function (DUF3398)
    3. XM_011518046.1XP_011516348.1  

      Conserved Domains (3) summary
      cd08696
      Location:513693
      C2_Dock-C; C2 domains found in Dedicator Of CytoKinesis (Dock) class C proteins
      cd11701
      Location:15902011
      DHR2_DOCK8; Dock Homology Region 2, a GEF domain, of Class C Dedicator of Cytokinesis 8
      pfam11878
      Location:23118
      DUF3398; Domain of unknown function (DUF3398)
    4. XM_011518048.1XP_011516350.1  

      See identical proteins and their annotated locations for XP_011516350.1

      UniProtKB/Swiss-Prot
      Q8NF50
      Conserved Domains (3) summary
      cd08696
      Location:491671
      C2_Dock-C; C2 domains found in Dedicator Of CytoKinesis (Dock) class C proteins
      cd11701
      Location:15681989
      DHR2_DOCK8; Dock Homology Region 2, a GEF domain, of Class C Dedicator of Cytokinesis 8
      pfam11878
      Location:196
      DUF3398; Domain of unknown function (DUF3398)
    5. XM_011518049.1XP_011516351.1  

      Related
      ENSP00000371766, OTTHUMP00000107257, ENST00000382329, OTTHUMT00000192534
      Conserved Domains (2) summary
      cd08696
      Location:1151
      C2_Dock-C; C2 domains found in Dedicator Of CytoKinesis (Dock) class C proteins
      cd11701
      Location:10481469
      DHR2_DOCK8; Dock Homology Region 2, a GEF domain, of Class C Dedicator of Cytokinesis 8

    Alternate CHM1_1.1

    Genomic

    1. NC_018920.2 Alternate CHM1_1.1

      Range
      215319..464907
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)