DOCK3: Dedicator of Cytokinesis 3
A guanine nucleotide exchange factor (GEF) for Rho GTPases involved in neuronal development and cell migration.
Gene Information Card
| Symbol | DOCK3 |
|---|---|
| Full Name | Dedicator of cytokinesis 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 3p21.2 |
| NCBI Gene ID | 1795 ncbi.nlm.nih.gov/gene/1795 |
| Ensembl ID | ENSG00000173273 |
| UniProt ID | Q8IZD9 |
| OMIM ID | 603123 |
| HGNC ID | 2989 |
| Aliases | MOCA, PBP, KIAA0299 |
Description
DOCK3 encodes a member of the DOCK family of guanine nucleotide exchange factors (GEFs) that activate small Rho GTPases, particularly RAC1. The protein is highly expressed in the brain and plays a critical role in neuronal development, including axon outgrowth, dendritic spine formation, and synaptic function. Mutations in DOCK3 are associated with neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual developmental disorder with speech delay and dysmorphic facies | Loss-of-function mutations impair RAC1 activation, disrupting neuronal migration and synaptic plasticity | ClinVar, OMIM |
| Autism spectrum disorder | Rare variants may alter synaptic signaling pathways | ClinVar |
| Schizophrenia | Genetic association studies implicate DOCK3 variants in susceptibility | NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Testis | 3.2 | Medium |
| Lung | 1.8 | Low |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 8.1 | Neuronal model |
| HEK293 (embryonic kidney) | 2.3 | Low endogenous expression |
| U87MG (glioblastoma) | 6.7 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Loss of function; truncated protein |
| c.567_568del (p.Glu190fs) | Frameshift | <0.01% | Loss of function; premature stop |
| c.2345A>G (p.Tyr782Cys) | Missense | <0.01% | Unknown; predicted damaging |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to premature termination codons and nonsense-mediated decay.
Gain of Function (GOF)
Not reported in DOCK3.
Dominant Negative (DN)
Not reported in DOCK3.
View complete mutation data：
Gene Ontology (GO)
| • GTPase activator activity | • Rho guanyl-nucleotide exchange factor activity |
| • RAC1 guanyl-nucleotide exchange factor activity | • cell migration |
| • neuron projection development | • synaptic signaling |
| • actin cytoskeleton organization |
Pathways
• RAC1 GTPase cycle
• Axon guidance
• Signaling by Rho GTPases
Protein Summary
DOCK3 is a 2030-amino acid protein containing a DHR2 (DOCK homology region 2) domain responsible for GEF activity toward RAC1, and a DHR1 domain that binds phospholipids. It localizes to the cytoplasm and membrane, and is essential for cytoskeletal dynamics in neurons.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DOCK3 Knockout HEK293 Cell Line | EDJ-KQ4468 | Human | 1795 | Details Get a Quote |
| DOCK3 Knockout HCT 116 Cell Line | EDJ-KQ27031 | Human | 1795 | Details Get a Quote |
| DOCK3 Knockout HeLa Cell Line | EDJ-KQ53104 | Human | 1795 | Details Get a Quote |
| DOCK3 Knockout A-549 Cell Line | EDJ-KQ61578 | Human | 1795 | Details Get a Quote |
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