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

Gene ID: 81704, updated on 3-Apr-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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Location:
9p24.3
Exon count:
53
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (211257..465255)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (208892..464924)
105.20220307 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
  • 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. Clinical, immunological and molecular findings of patients with DOCK-8 deficiency from India. Gowri V, et al. Scand J Immunol, 2023 Jul. PMID 37114940
  2. [Combined immunodeficiency due to DOCK8 deficiency. State of the art]. Liquidano-Pérez E, et al. Rev Alerg Mex, 2022 Jul 1. PMID 36927749
  3. Autoimmune myositis and autoimmune hemolytic anemia in two sisters with DOCK8-deficient hyper-IgE syndrome. Yin J, et al. Immunol Res, 2023 Jun. PMID 36633785
  4. Insights into the pathogenesis of allergic disease from dedicator of cytokinesis 8 deficiency. Su HC. Curr Opin Immunol, 2023 Feb. PMID 36508760, Free PMC Article
  5. Identification of a functional DOCK8 gene polymorphism associated with atopic dermatitis. Kunimura K, et al. Allergy, 2022 Dec. PMID 35841182, Free PMC Article

See all (108) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. Ectopic expression of DOCK8 regulates lysosome-mediated pancreatic tumor cell invasion.
    Title: Ectopic expression of DOCK8 regulates lysosome-mediated pancreatic tumor cell invasion.
  4. 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.
  5. 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.
  6. [Combined immunodeficiency due to DOCK8 deficiency. State of the art].
    Title: [Combined immunodeficiency due to DOCK8 deficiency. State of the art].
  7. Identification of a functional DOCK8 gene polymorphism associated with atopic dermatitis.
    Title: Identification of a functional DOCK8 gene polymorphism associated with atopic dermatitis.
  8. 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.
  9. Confirmation of Hyperimmunoglobulin E Syndrome in Two Patients with an Ocular Problem: Detection of Two New DOCK8 Mutations.
    Title: Confirmation of Hyperimmunoglobulin E Syndrome in Two Patients with an Ocular Problem: Detection of Two New DOCK8 Mutations.
  10. Lack of DOCK8 impairs the primary biologic functions of human NK cells and abrogates CCR7 surface expression in a WASP-independent manner.
    Title: Lack of DOCK8 impairs the primary biologic functions of human NK cells and abrogates CCR7 surface expression in a WASP-independent manner.
Submit: New GeneRIF Correction See all GeneRIFs (71)

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
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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 IBA
Inferred from Biological aspect of Ancestor
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 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_2023_10

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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