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

    Gene ID: 81704, updated on 28-Oct-2024

    Summary

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    Official Symbol
    DOCK8provided by HGNC
    Official Full Name
    dedicator of cytokinesis 8provided by HGNC
    Primary source
    HGNC:HGNC:19191
    See related
    Ensembl:ENSG00000107099 MIM:611432; AllianceGenome:HGNC:19191
    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; HIES2; 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]
    Expression
    Broad expression in lymph node (RPKM 24.2), spleen (RPKM 23.1) and 21 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DOCK8 in Genome Data Viewer
    Location:
    9p24.3
    Exon count:
    53
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (211257..465255)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (208892..464924)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (214865..465255)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375942 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139299-139912 Neighboring gene VISTA enhancer hs628 Neighboring gene Zn regulated GTPase metalloprotein activator 1A Neighboring gene uncharacterized LOC105375943 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19720 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19721 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19722 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19723 Neighboring gene DOCK8 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28115 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28116 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr9:285795-286994 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr9:330982-331957 Neighboring gene uncharacterized LOC105375945 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr9:444434-444993 Neighboring gene uncharacterized LOC124902108 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28117 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28118 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:469879-470404 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr9:477887-478386 Neighboring gene DOCK8 antisense RNA 2 Neighboring gene translation initiation factor IF-2-like 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

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Autosomal recessive hyper-IgE syndrome in two brothers of a Chinese family with a novel mutation in DOCK8 gene. Wang S, et al. J Eur Acad Dermatol Venereol, 2018 Aug. PMID 29419892
    2. Cutaneous manifestations of DOCK8 deficiency syndrome. Chu EY, et al. Arch Dermatol, 2012 Jan. PMID 21931011, Free PMC Article
    3. Clinical, immunological and molecular characterization of DOCK8 and DOCK8-like deficient patients: single center experience of twenty-five patients. Alsum Z, et al. J Clin Immunol, 2013 Jan. PMID 22968740
    4. Defective actin accumulation impairs human natural killer cell function in patients with dedicator of cytokinesis 8 deficiency. Mizesko MC, et al. J Allergy Clin Immunol, 2013 Mar. PMID 23380217, Free PMC Article
    5. DOCK8 mutation diagnosed using whole-exome sequencing of the dried blood spot-derived DNA: a case report of an Iraqi girl diagnosed in Japan. Al-Kzayer LFY, et al. BMC Med Genet, 2019 Jun 26. PMID 31242861, Free PMC Article

    See all (116) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A novel hemizygous CD40L mutation of X-linked hyper IgM syndromes and compound heterozygous DOCK8 mutations of hyper IgE syndromes in two Chinese families.
      Title: A novel hemizygous CD40L mutation of X-linked hyper IgM syndromes and compound heterozygous DOCK8 mutations of hyper IgE syndromes in two Chinese families.
    2. Regulatory T-cell dysfunction and cutaneous exposure to Staphylococcus aureus underlie eczema in DOCK8 deficiency.
      Title: Regulatory T-cell dysfunction and cutaneous exposure to Staphylococcus aureus underlie eczema in DOCK8 deficiency.
    3. Clinical, immunological, and genetic description of a Mexican cohort of patients with DOCK8 deficiency.
      Title: Clinical, immunological, and genetic description of a Mexican cohort of patients with DOCK8 deficiency.
    4. Clinical, immunological and molecular profiles of DOCK8 deficiency in six patients from a tertiary care centre in North India.
      Title: Clinical, immunological and molecular profiles of DOCK8 deficiency in six patients from a tertiary care centre in North India.
    5. Ectopic expression of DOCK8 regulates lysosome-mediated pancreatic tumor cell invasion.
      Title: Ectopic expression of DOCK8 regulates lysosome-mediated pancreatic tumor cell invasion.
    6. Clinical, immunological and molecular findings of patients with DOCK-8 deficiency from India.
      Title: Clinical, immunological and molecular findings of patients with DOCK-8 deficiency from India.
    7. Autoimmune myositis and autoimmune hemolytic anemia in two sisters with DOCK8-deficient hyper-IgE syndrome.
      Title: Autoimmune myositis and autoimmune hemolytic anemia in two sisters with DOCK8-deficient hyper-IgE syndrome.
    8. [Combined immunodeficiency due to DOCK8 deficiency. State of the art].
      Title: [Combined immunodeficiency due to DOCK8 deficiency. State of the art].
    9. Identification of a functional DOCK8 gene polymorphism associated with atopic dermatitis.
      Title: Identification of a functional DOCK8 gene polymorphism associated with atopic dermatitis.
    10. Insights into the pathogenesis of allergic disease from dedicator of cytokinesis 8 deficiency.
      Title: Insights into the pathogenesis of allergic disease from dedicator of cytokinesis 8 deficiency.
    Submit: New GeneRIF Correction See all GeneRIFs (73)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Combined immunodeficiency due to DOCK8 deficiency
    MedGen: C4722305 OMIM: 243700 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    New gene functions in megakaryopoiesis and platelet formation.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ00026, FLJ00152, FLJ00346

    Gene Ontology Provided by GOA

    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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables guanyl-nucleotide exchange factor activity TAS
    Traceable Author Statement
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cellular response to chemokine IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in dendritic cell migration IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in immunological synapse formation IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within memory T cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of T cell apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of GTPase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    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 IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of Rho protein signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of small GTPase mediated signal transduction TAS
    Traceable Author Statement
    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 cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in lamellipodium membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in leading edge membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in membrane HDA PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    dedicator of cytokinesis protein 8
    Names
    1200017A24Rik
    epididymis luminal protein 205

    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.

    Genomic

    1. NG_017007.1 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_001190458.2 → NP_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)
      AL158832, AL161725
      Consensus CDS
      CCDS55284.1
      UniProtKB/TrEMBL
      A0A2X0SFD1
      Related
      ENSP00000419438.1, ENST00000469391.5
      Conserved Domains (3) summary
      cd08696
      Location:491 → 671
      C2_Dock-C; C2 domains found in Dedicator Of CytoKinesis (Dock) class C proteins
      cd11701
      Location:1536 → 1957
      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)

    2. NM_001193536.2 → NP_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)
      AL158832, AL161725
      Consensus CDS
      CCDS55283.1
      UniProtKB/TrEMBL
      A0A2X0SFD1
      Related
      ENSP00000408464.2, ENST00000453981.5
      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)

    3. NM_203447.4 → NP_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, AL161725, DR004867
      Consensus CDS
      CCDS6440.2
      UniProtKB/Swiss-Prot
      A2A350, A2BDF2, A4FU78, B7ZLP0, E9PH09, Q3MV16, Q5JPJ1, Q8NF50, Q8TEP1, Q8WUY2, Q9BYJ5, Q9H1Q2, Q9H1Q3, Q9H308, Q9H7P2
      UniProtKB/TrEMBL
      A0A2X0SFD1
      Related
      ENSP00000394888.3, ENST00000432829.7
      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_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      211257..465255
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017015173.2 → XP_016870662.1  dedicator of cytokinesis protein 8 isoform X2

      UniProtKB/TrEMBL
      A0A2X0SFD1
      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)

    2. XM_047423927.1 → XP_047279883.1  dedicator of cytokinesis protein 8 isoform X1

    3. XM_011518045.4 → XP_011516347.1  dedicator of cytokinesis protein 8 isoform X4

      See identical proteins and their annotated locations for XP_011516347.1

      UniProtKB/TrEMBL
      A0A2X0SFD1
      Conserved Domains (3) summary
      cd08696
      Location:491 → 671
      C2_Dock-C; C2 domains found in Dedicator Of CytoKinesis (Dock) class C proteins
      cd11701
      Location:1536 → 1957
      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)

    4. XM_047423930.1 → XP_047279886.1  dedicator of cytokinesis protein 8 isoform X3

      Related
      ENSP00000371766.2, ENST00000382329.2

    5. XM_047423932.1 → XP_047279888.1  dedicator of cytokinesis protein 8 isoform X5

    6. XM_047423929.1 → XP_047279885.1  dedicator of cytokinesis protein 8 isoform X2

    7. XM_047423928.1 → XP_047279884.1  dedicator of cytokinesis protein 8 isoform X1

    8. XM_047423931.1 → XP_047279887.1  dedicator of cytokinesis protein 8 isoform X5

    9. XM_011518046.3 → XP_011516348.1  dedicator of cytokinesis protein 8 isoform X7

      UniProtKB/TrEMBL
      A0A2X0SFD1
      Conserved Domains (3) summary
      cd08696
      Location:513 → 693
      C2_Dock-C; C2 domains found in Dedicator Of CytoKinesis (Dock) class C proteins
      cd11701
      Location:1590 → 2011
      DHR2_DOCK8; Dock Homology Region 2, a GEF domain, of Class C Dedicator of Cytokinesis 8
      pfam11878
      Location:10 → 120
      DUF3398; Domain of unknown function (DUF3398)

    10. XM_047423934.1 → XP_047279890.1  dedicator of cytokinesis protein 8 isoform X6

    11. XM_047423936.1 → XP_047279892.1  dedicator of cytokinesis protein 8 isoform X8

    12. XM_047423935.1 → XP_047279891.1  dedicator of cytokinesis protein 8 isoform X1

    13. XM_047423937.1 → XP_047279893.1  dedicator of cytokinesis protein 8 isoform X3

    14. XM_047423933.1 → XP_047279889.1  dedicator of cytokinesis protein 8 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      208892..464924
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NF50.3 GenPept UniProtKB/Swiss-Prot:Q8NF50

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