HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
DOCK2
dedicator of cytokinesis 2
Chromosome 5 Β· 5q35.1
NCBI Gene: 1794Ensembl: ENSG00000134516.20HGNC: HGNC:2988UniProt: H0YB76
109PubMed Papers
21Diseases
0Drugs
34Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
membraneextracellular exosomeT cell receptor bindingguanyl-nucleotide exchange factor activityDOCK2 deficiencybipolar disordersevere combined immunodeficiencyHIV infection
✦AI Summary

DOCK2 is a guanine nucleotide exchange factor specifically expressed in hematopoietic cells that plays critical roles in immune cell function and cytoskeletal reorganization 1. DOCK2 activates RAC1 and RAC2 GTPases, facilitating actin cytoskeleton rearrangement required for lymphocyte migration in response to chemokines 12. The protein is essential for proper immune cell activation and migration, with defects leading to impaired neutrophil cytoskeletal rearrangement and reactive oxygen species production 2. DOCK2 deficiency causes severe combined immunodeficiency, with patients presenting early-onset viral infections and Omenn syndrome due to complete loss of DOCK2 protein expression 2. Recent studies demonstrate DOCK2's broader clinical significance: reduced expression is associated with CD8+ T-cell exhaustion in hepatocellular carcinoma, where cholesterol sulfate suppresses DOCK2 enzymatic activity 3. Additionally, DOCK2 variants increase susceptibility to severe COVID-19, particularly in younger patients, with decreased expression correlating with impaired macrophage recruitment and dysregulated interferon responses 4. The TCR-SUB1-DOCK2 signaling axis also promotes autoimmunity by driving pathogenic CD4+ T cell tissue infiltration through enhanced cell motility 5. These findings establish DOCK2 as a crucial regulator of immune cell function with significant implications for immunodeficiency, cancer immunotherapy, and autoimmune diseases.

Sources cited
1
DOCK2 is specifically expressed in hematopoietic cells and regulates immune cell activation/migration through RAC activation
PMID: 29509960
2
DOCK2 activates RAC1/RAC2 and is required for actin cytoskeleton rearrangement; deficiency causes severe combined immunodeficiency
PMID: 30838481
3
DOCK2 inactivation leads to CD8+ T-cell exhaustion in hepatocellular carcinoma, with cholesterol sulfate suppressing its activity
PMID: 36626623
4
DOCK2 variants and reduced expression are associated with severe COVID-19 and impaired immune responses
PMID: 35940203
5
TCR-SUB1-DOCK2 axis promotes autoimmunity by driving pathogenic CD4+ T cell tissue infiltration
PMID: 41371223
Disease Associationsβ“˜21
DOCK2 deficiencyOpen Targets
0.78Strong
bipolar disorderOpen Targets
0.37Weak
severe combined immunodeficiencyOpen Targets
0.37Weak
HIV infectionOpen Targets
0.37Weak
gestational diabetesOpen Targets
0.34Weak
muscle crampOpen Targets
0.32Weak
protozoa infectious diseaseOpen Targets
0.31Weak
inflammatory bowel diseaseOpen Targets
0.30Weak
ulcerative colitisOpen Targets
0.30Weak
ovarian neoplasmOpen Targets
0.27Weak
intelligenceOpen Targets
0.26Weak
deficiency anemiaOpen Targets
0.26Weak
placental retentionOpen Targets
0.26Weak
neurodegenerative diseaseOpen Targets
0.25Weak
mixed connective tissue diseaseOpen Targets
0.25Weak
pathological myopiaOpen Targets
0.22Weak
ShockOpen Targets
0.20Weak
genetic disorderOpen Targets
0.19Weak
self-injurious ideationOpen Targets
0.19Weak
estrogen-receptor positive breast cancerOpen Targets
0.14Weak
Immunodeficiency 40UniProt
Pathogenic Variants34
NM_004946.3(DOCK2):c.2037_2041del (p.Ile680fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 680
NM_004946.3(DOCK2):c.1773dup (p.Leu592fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 592
NM_004946.3(DOCK2):c.2721del (p.His907fs)Pathogenic
DOCK2 deficiency
β˜…β˜†β˜†β˜†2025β†’ Residue 907
NM_004946.3(DOCK2):c.1522C>T (p.Arg508Ter)Pathogenic
DOCK2 deficiency
β˜…β˜†β˜†β˜†2025β†’ Residue 508
NM_004946.3(DOCK2):c.1055+1G>ALikely pathogenic
DOCK2 deficiency|Acute myeloid leukemia
β˜…β˜†β˜†β˜†2025
NM_004946.3(DOCK2):c.106C>T (p.Arg36Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 36
NM_004946.3(DOCK2):c.1330_1331del (p.Arg444fs)Pathogenic
DOCK2 deficiency
β˜…β˜†β˜†β˜†2024β†’ Residue 444
NM_004946.3(DOCK2):c.1057delLikely pathogenic
DOCK2 deficiency
β˜…β˜†β˜†β˜†2024
NM_004946.3(DOCK2):c.2615del (p.Lys872fs)Likely pathogenic
DOCK2 deficiency
β˜…β˜†β˜†β˜†2024β†’ Residue 872
NM_004946.3(DOCK2):c.5288-1G>TLikely pathogenic
DOCK2 deficiency
β˜…β˜†β˜†β˜†2023
NM_004946.3(DOCK2):c.606+2T>GLikely pathogenic
DOCK2 deficiency
β˜…β˜†β˜†β˜†2023
NM_004946.3(DOCK2):c.650C>A (p.Ser217Ter)Pathogenic
DOCK2 deficiency
β˜…β˜†β˜†β˜†2023β†’ Residue 217
NM_004946.3(DOCK2):c.4786C>T (p.Arg1596Ter)Pathogenic
DOCK2 deficiency
β˜…β˜†β˜†β˜†2022β†’ Residue 1596
NM_004946.3(DOCK2):c.1348_1349del (p.Met450fs)Pathogenic
DOCK2 deficiency
β˜…β˜†β˜†β˜†2022β†’ Residue 450
NM_004946.3(DOCK2):c.4072-1G>CLikely pathogenic
DOCK2 deficiency
β˜…β˜†β˜†β˜†2022
NM_004946.3(DOCK2):c.316dup (p.Tyr106fs)Pathogenic
DOCK2 deficiency
β˜…β˜†β˜†β˜†2022β†’ Residue 106
NM_004946.3(DOCK2):c.3310C>T (p.Arg1104Trp)Likely pathogenic
DOCK2 deficiency
β˜…β˜†β˜†β˜†2022β†’ Residue 1104
NM_004946.3(DOCK2):c.4858C>T (p.Arg1620Ter)Pathogenic
DOCK2 deficiency
β˜…β˜†β˜†β˜†2022β†’ Residue 1620
NM_004946.3(DOCK2):c.149dup (p.His52fs)Pathogenic
DOCK2 deficiency
β˜…β˜†β˜†β˜†2022β†’ Residue 52
NM_004946.3(DOCK2):c.3756+2T>CLikely pathogenic
DOCK2 deficiency
β˜…β˜†β˜†β˜†2021
View on ClinVar β†—
Related Genes
RHOGProtein interaction100%RAC2Protein interaction99%RABIFProtein interaction98%RAC3Protein interaction98%ELMO1Protein interaction98%SRCProtein interaction97%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
44%
Liver
5%
Heart
4%
Brain
3%
Ovary
2%
Gene Interaction Network
Click a node to explore
DOCK2RHOGRAC2RABIFRAC3ELMO1SRC
PROTEIN STRUCTURE
Preparing viewer…
PDB3A98 Β· 2.10 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.42Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.35 [0.30–0.42]
RankingsWhere DOCK2 stands among ~20K protein-coding genes
  • #4,353of 20,598
    Most Researched109 Β· top quartile
  • #1,701of 5,498
    Most Pathogenic Variants34
  • #2,221of 17,882
    Most Constrained (LOEUF)0.42 Β· top quartile
Genes detectedDOCK2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
The pan-cancer proteome atlas, a mass spectrometry-based landscape for discovering tumor biology, biomarkers, and therapeutic targets.
PMID: 40446800
Cancer Cell Β· 2025
1.00
2
SULT2B1-CS-DOCK2 axis regulates effector T-cell exhaustion in HCC microenvironment.
PMID: 36626623
Hepatology Β· 2023
0.90
3
Efficient evaluation of osteotoxicity and mechanisms of endocrine disrupting chemicals using network toxicology and molecular docking approaches: triclosan as a model compound.
PMID: 40080935
Ecotoxicol Environ Saf Β· 2025
0.80
4
DOCK2 is involved in the host genetics and biology of severe COVID-19.
PMID: 35940203
Nature Β· 2022
0.70
5
DOCK11 deficiency in patients with X-linked actinopathy and autoimmunity.
PMID: 36952639
Blood Β· 2023
0.60