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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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DOCK4
dedicator of cytokinesis 4
Chromosome 7 · 7q31.1
NCBI Gene: 9732Ensembl: ENSG00000128512.24HGNC: HGNC:19192UniProt: Q8N1I0
91PubMed Papers
20Diseases
0Drugs
3Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneOncogene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
guanyl-nucleotide exchange factor activityprotein bindingPDZ domain bindingreceptor tyrosine kinase bindingNeurodevelopmental disorderIntellectual disabilitypoisoningliver disease
✦AI Summary

DOCK4 is a guanine nucleotide exchange factor (GEF) that activates RAC1 to regulate cytoskeletal dynamics critical for neuronal development and vascular function 1. Functionally, DOCK4 acts as an adaptor protein mediating multiple cellular processes: it promotes neurite outgrowth during neurogenesis 1, facilitates LDL transcytosis across endothelial cells by coupling SR-B1 activation with RAC1-mediated internalization 23, and mediates Nav1.7 sodium channel trafficking via interaction with the motor protein Dynein to regulate heat nociception 4. Clinically, DOCK4 loss-of-function variants cause neurodevelopmental disorder characterized by global developmental delay, microcephaly, brain malformations, hypotonia, and seizures 1. DOCK4 dysfunction also contributes to schizophrenia susceptibility, with genetic variants associated with language processing and motor coordination deficits 5. Additionally, DOCK4 hypermethylation and deletion occur in myelodysplastic syndromes, where knockdown impairs erythroid differentiation and increases apoptosis in bone marrow stem cells 6. Recent evidence links altered DOCK4 expression—regulated by histone lactylation—to abnormal pain perception in autism and other neurological conditions 4. These diverse pathogenic roles position DOCK4 as a critical regulator of neuronal and vascular homeostasis with therapeutic implications for neurodevelopmental, psychiatric, hematologic, and pain disorders.

Sources cited
1
DOCK4 loss-of-function variants cause neurodevelopmental delay, microcephaly, and impaired neurite outgrowth via RAC1 activation
PMID: 38526744
2
DOCK4 mediates SR-B1-dependent LDL transcytosis across endothelial cells by recruiting and activating RAC1
PMID: 31019307
3
DOCK4 is a regulatory component of LDL transcytosis across arterial endothelium in atherosclerosis pathogenesis
PMID: 40013359
4
DOCK4 interacts with Dynein and Nav1.7 to mediate sodium channel trafficking and regulate heat nociception independent of TRPV1
PMID: 40759894
5
DOCK4 genetic variants associate with schizophrenia susceptibility and alter language processing and motor coordination
PMID: 36822513
6
DOCK4 hypermethylation and deletion on chromosome 7q occur in myelodysplastic syndromes, with knockdown impairing erythroid differentiation
PMID: 21532034
Disease Associationsⓘ20
Neurodevelopmental disorderOpen Targets
0.48Moderate
Intellectual disabilityOpen Targets
0.37Weak
poisoningOpen Targets
0.33Weak
liver diseaseOpen Targets
0.28Weak
rheumatic diseaseOpen Targets
0.27Weak
response to xenobiotic stimulusOpen Targets
0.27Weak
ShockOpen Targets
0.27Weak
esophageal ulcerOpen Targets
0.26Weak
chondrocalcinosisOpen Targets
0.26Weak
ankylosing spondylitisOpen Targets
0.26Weak
metabolic diseaseOpen Targets
0.26Weak
PhlebitisOpen Targets
0.26Weak
pyogenic granulomaOpen Targets
0.26Weak
ThrombophlebitisOpen Targets
0.26Weak
urethral syndromeOpen Targets
0.26Weak
heart conduction diseaseOpen Targets
0.25Weak
Alzheimer diseaseOpen Targets
0.25Weak
autism spectrum disorderOpen Targets
0.13Weak
breast cancerOpen Targets
0.09Suggestive
gastric adenocarcinomaOpen Targets
0.08Suggestive
Pathogenic Variants3
NM_001363540.2(DOCK4):c.2945C>T (p.Thr982Ile)Likely pathogenic
Neurodevelopmental disorder
★☆☆☆2024→ Residue 982
NM_001363540.2(DOCK4):c.3131T>C (p.Met1044Thr)Likely pathogenic
Neurodevelopmental disorder
★☆☆☆2024→ Residue 1044
NM_001363540.2(DOCK4):c.3200T>C (p.Ile1067Thr)Likely pathogenic
Neurodevelopmental disorder
★☆☆☆2024→ Residue 1067
View on ClinVar ↗
Related Genes
RPLP2Protein interaction100%RPS9Protein interaction100%RPS23Protein interaction100%RPL38Protein interaction100%RPL29Protein interaction100%FAUProtein interaction100%
Tissue Expression6 tissues
Lung
100%
Brain
99%
Liver
56%
Ovary
47%
Heart
41%
Bone Marrow
8%
Gene Interaction Network
Click a node to explore
DOCK4RPLP2RPS9RPS23RPL38RPL29FAU
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8N1I0
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.45Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.37 [0.31–0.45]
RankingsWhere DOCK4 stands among ~20K protein-coding genes
  • #5,241of 20,598
    Most Researched91
  • #3,999of 5,498
    Most Pathogenic Variants3
  • #2,460of 17,882
    Most Constrained (LOEUF)0.45 · top quartile
Genes detectedDOCK4
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly.
PMID: 38526744
Hum Genet · 2024
1.00
2
SR-B1 drives endothelial cell LDL transcytosis via DOCK4 to promote atherosclerosis.
PMID: 31019307
Nature · 2019
0.90
3
A Practical Guide to Molecular Docking and Homology Modelling for Medicinal Chemists.
PMID: 28137238
Curr Top Med Chem · 2017
0.80
4
Histone lactylation regulates DOCK4 to control heat nociception and supports Dynein-mediated Nav1.7 trafficking.
PMID: 40759894
Nat Commun · 2025
0.70
5
Transcytosis of LDL Across Arterial Endothelium: Mechanisms and Therapeutic Targets.
PMID: 40013359
Arterioscler Thromb Vasc Biol · 2025
0.60