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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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DOCK8
dedicator of cytokinesis 8
Chromosome 9 Β· 9p24.3
NCBI Gene: 81704Ensembl: ENSG00000107099.18HGNC: HGNC:19191UniProt: E2J6M5
122PubMed Papers
22Diseases
0Drugs
137Pathogenic Variants
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
memory T cell proliferationguanyl-nucleotide exchange factor activityprotein bindingpositive regulation of T cell migrationcombined immunodeficiency due to DOCK8 deficiencyAutosomal recessive hyper-IgE syndromehyper-IgE syndromeintellectual disability, autosomal dominant 2
✦AI Summary

DOCK8 is a guanine nucleotide exchange factor (GEF) that activates the small GTPase CDC42 by exchanging bound GDP for free GTP 1. During immune responses, DOCK8 functions critically in cell migration and cytotoxicity. It promotes CD4+ T cell migration in response to chemokine stimulation by locally activating CDC42 at the T cell leading edge membrane 2. DOCK8 also regulates NK cell cytotoxicity by controlling microtubule-organizing center polarization and lytic granule transport 3. DOCK8 deficiency causes autosomal recessive hyper-IgE syndrome, a combined immunodeficiency characterized by eczema, recurrent bacterial and viral skin infections, respiratory infections, and elevated serum IgE levels 4567. Recent findings reveal that DOCK8 deficiency involves both actin regulation defects and reduced regulatory T lymphocyte function in skin tissue, contributing to severe and persistent viral infections and inflammatory phenotype 7. The condition also increases susceptibility to giant condyloma acuminatum through compromised HPV immunity 8. Clinically, genetic diagnosis is essential for distinguishing DOCK8 deficiency from atopic dermatitis and other immunodeficiencies 6. Hematopoietic stem cell transplantation is the definitive curative treatment, significantly improving outcomes and abolishing most symptoms, though allergic manifestations may persist 57.

Sources cited
1
DOCK8 is a GEF that activates CDC42 by exchanging GDP for GTP
PMID: 22461490
2
DOCK8 promotes CD4+ T cell migration by activating CDC42 at the T cell leading edge
PMID: 28028151
3
DOCK8 regulates NK cell cytotoxicity through MTOC polarization and lytic granule transport
PMID: 25762780
4
DOCK8 mutations cause autosomal recessive hyper-IgE syndrome with atopic dermatitis and recurrent infections
PMID: 30264496
5
DOCK8 deficiency requires hematopoietic stem cell transplantation as treatment for autosomal recessive HIES
PMID: 35351598
6
DOCK8 mutations are recognized cause of hyper-IgE syndrome; genetic diagnosis is essential for distinguishing from atopic dermatitis
PMID: 37702167
7
DOCK8 deficiency involves actin regulation defects and reduced regulatory T lymphocytes in skin; HSCT is curative with persistent allergic manifestations
PMID: 41158011
8
DOCK8 deficiency increases susceptibility to giant condyloma acuminatum through compromised HPV immunity
PMID: 35562936
Disease Associationsβ“˜22
combined immunodeficiency due to DOCK8 deficiencyOpen Targets
0.81Strong
Autosomal recessive hyper-IgE syndromeOpen Targets
0.72Strong
hyper-IgE syndromeOpen Targets
0.65Moderate
intellectual disability, autosomal dominant 2Open Targets
0.52Moderate
severe combined immunodeficiencyOpen Targets
0.47Moderate
squamous cell carcinomaOpen Targets
0.47Moderate
combined immunodeficiencyOpen Targets
0.47Moderate
lymphomaOpen Targets
0.46Moderate
hair colorOpen Targets
0.45Moderate
genetic disorderOpen Targets
0.42Moderate
cutaneous melanomaOpen Targets
0.41Moderate
immunodeficiency diseaseOpen Targets
0.41Moderate
skin agingOpen Targets
0.38Weak
autosomal dominant non-syndromic intellectual disabilityOpen Targets
0.37Weak
Varicose veinsOpen Targets
0.35Weak
alcohol drinkingOpen Targets
0.30Weak
body weight gainOpen Targets
0.29Weak
polyarteritis nodosaOpen Targets
0.29Weak
androgenetic alopeciaOpen Targets
0.27Weak
nephrotic syndromeOpen Targets
0.27Weak
Hyper-IgE syndrome 2, autosomal recessive, with recurrent infectionsUniProt
Intellectual developmental disorder, autosomal dominant 2UniProt
Pathogenic Variants137
NM_203447.4(DOCK8):c.529-2A>GLikely pathogenic
Combined immunodeficiency due to DOCK8 deficiency
β˜…β˜…β˜†β˜†2026
NM_203447.4(DOCK8):c.6019dup (p.Tyr2007fs)Pathogenic
Combined immunodeficiency due to DOCK8 deficiency
β˜…β˜…β˜†β˜†2025β†’ Residue 2007
NM_203447.4(DOCK8):c.5386C>T (p.Arg1796Ter)Pathogenic
Combined immunodeficiency due to DOCK8 deficiency
β˜…β˜…β˜†β˜†2025β†’ Residue 1796
NM_203447.4(DOCK8):c.1418A>G (p.Lys473Arg)Pathogenic
Combined immunodeficiency due to DOCK8 deficiency|Severe combined immunodeficiency disease
β˜…β˜…β˜†β˜†2025β†’ Residue 473
NM_203447.4(DOCK8):c.949C>T (p.Arg317Ter)Pathogenic
not provided|Combined immunodeficiency due to DOCK8 deficiency
β˜…β˜…β˜†β˜†2025β†’ Residue 317
NM_203447.4(DOCK8):c.2986C>T (p.Gln996Ter)Pathogenic
Combined immunodeficiency due to DOCK8 deficiency
β˜…β˜…β˜†β˜†2025β†’ Residue 996
NM_203447.4(DOCK8):c.3175dup (p.Leu1059fs)Pathogenic
Combined immunodeficiency due to DOCK8 deficiency
β˜…β˜…β˜†β˜†2024β†’ Residue 1059
NM_203447.4(DOCK8):c.1963C>T (p.Gln655Ter)Pathogenic
Combined immunodeficiency due to DOCK8 deficiency|
β˜…β˜…β˜†β˜†2024β†’ Residue 655
NM_203447.4(DOCK8):c.6022C>T (p.Arg2008Ter)Pathogenic
Combined immunodeficiency due to DOCK8 deficiency
β˜…β˜…β˜†β˜†2024β†’ Residue 2008
NM_203447.4(DOCK8):c.2779-2A>CLikely pathogenic
Combined immunodeficiency due to DOCK8 deficiency
β˜…β˜…β˜†β˜†2024
NM_203447.4(DOCK8):c.5261del (p.Leu1754fs)Pathogenic
not provided|Combined immunodeficiency due to DOCK8 deficiency
β˜…β˜…β˜†β˜†2024β†’ Residue 1754
NM_203447.4(DOCK8):c.1357G>T (p.Glu453Ter)Pathogenic
Combined immunodeficiency due to DOCK8 deficiency
β˜…β˜…β˜†β˜†2024β†’ Residue 453
NM_203447.4(DOCK8):c.3530+1G>ALikely pathogenic
Combined immunodeficiency due to DOCK8 deficiency
β˜…β˜…β˜†β˜†2024
NM_203447.4(DOCK8):c.1498C>T (p.Arg500Ter)Pathogenic
Combined immunodeficiency due to DOCK8 deficiency|
β˜…β˜…β˜†β˜†2024β†’ Residue 500
NM_203447.4(DOCK8):c.850_851del (p.Leu284fs)Pathogenic
not provided|Combined immunodeficiency due to DOCK8 deficiency|
β˜…β˜…β˜†β˜†2023β†’ Residue 284
NM_203447.4(DOCK8):c.1174C>T (p.Gln392Ter)Pathogenic
Severe combined immunodeficiency disease|Combined immunodeficiency due to DOCK8 deficiency
β˜…β˜…β˜†β˜†2023β†’ Residue 392
NM_203447.4(DOCK8):c.4162C>T (p.Arg1388Ter)Pathogenic
not provided|Combined immunodeficiency due to DOCK8 deficiency
β˜…β˜…β˜†β˜†2023β†’ Residue 1388
NM_203447.4(DOCK8):c.2971-1G>APathogenic
not provided|Combined immunodeficiency due to DOCK8 deficiency|Thyroid cancer, nonmedullary, 1
β˜…β˜…β˜†β˜†2023
NM_203447.4(DOCK8):c.3339del (p.Phe1113fs)Pathogenic
not provided|Combined immunodeficiency due to DOCK8 deficiency
β˜…β˜…β˜†β˜†2022β†’ Residue 1113
NM_203447.4(DOCK8):c.5132C>A (p.Ser1711Ter)Pathogenic
not provided|Combined immunodeficiency due to DOCK8 deficiency|DOCK8-related disorder
β˜…β˜…β˜†β˜†2022β†’ Residue 1711
View on ClinVar β†—
Related Genes
LRCH3Protein interaction98%RHOJProtein interaction92%CDC42Protein interaction88%DMRT1Protein interaction85%KANK1Protein interaction85%LRCH4Protein interaction84%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
28%
Liver
7%
Heart
4%
Ovary
3%
Brain
2%
Gene Interaction Network
Click a node to explore
DOCK8LRCH3RHOJCDC42DMRT1KANK1LRCH4
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q8NF50
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.62LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.54 [0.46–0.62]
RankingsWhere DOCK8 stands among ~20K protein-coding genes
  • #3,848of 20,598
    Most Researched122 Β· top quartile
  • #565of 5,498
    Most Pathogenic Variants137 Β· top quartile
  • #4,359of 17,882
    Most Constrained (LOEUF)0.62 Β· top quartile
Genes detectedDOCK8
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Hyper IgE syndromes: clinical and molecular characteristics.
PMID: 30264496
Immunol Cell Biol Β· 2019
1.00
2
De novo genic mutations among a Chinese autism spectrum disorder cohort.
PMID: 27824329
Nat Commun Β· 2016
0.90
3
Hyper IgE syndromes: A clinical approach.
PMID: 35351598
Clin Immunol Β· 2022
0.80
4
The Pathogenesis of Giant Condyloma Acuminatum (Buschke-Lowenstein Tumor): An Overview.
PMID: 35562936
Int J Mol Sci Β· 2022
0.70
5
Pathogenesis of Autoimmunity/Systemic Lupus Erythematosus (SLE).
PMID: 40710333
Cells Β· 2025
0.60