DOCK5: Dedicator of Cytokinesis 5
A guanine nucleotide exchange factor (GEF) for Rho GTPases involved in cell migration, adhesion, and cancer progression.
Gene Information Card
| Symbol | DOCK5 |
|---|---|
| Full Name | Dedicator of cytokinesis 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 8p21.3 |
| NCBI Gene ID | 80005 ncbi.nlm.nih.gov/gene/80005 |
| Ensembl ID | ENSG00000147459 |
| UniProt ID | Q9H7D0 |
| OMIM ID | 611869 |
| HGNC ID | 23489 |
| Aliases | KIAA1158, FLJ10656 |
Description
DOCK5 (Dedicator of cytokinesis 5) encodes a member of the DOCK family of guanine nucleotide exchange factors (GEFs) that activate Rho GTPases, particularly Rac1 and Cdc42. The protein plays a critical role in cytoskeletal dynamics, cell migration, adhesion, and phagocytosis. DOCK5 is implicated in osteoclast function, cancer metastasis, and immune cell regulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Osteoporosis | DOCK5 deficiency impairs osteoclast bone resorption via reduced Rac1 activation | PMID: 24614147 |
| Breast cancer | DOCK5 overexpression promotes cell migration and invasion through Rac1 signaling | PMID: 25944712 |
| Colorectal cancer | DOCK5 mutations and altered expression correlate with tumor progression and metastasis | COSMIC database |
| Melanoma | DOCK5 knockdown reduces melanoma cell migration and invasion in vitro | PMID: 27345397 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | Medium |
| Lymph node | 10.2 | Medium |
| Spleen | 9.8 | Medium |
| Lung | 6.3 | Low |
| Breast | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 8.5 | Embryonic kidney cells |
| MCF7 | 6.2 | Breast cancer cell line |
| A549 | 5.9 | Lung cancer cell line |
| THP-1 | 11.3 | Monocytic leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Loss of function |
| c.2567A>G (p.Asn856Ser) | Missense | 0.2% | Unknown significance |
| c.3456_3457insA | Frameshift | <0.1% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in DOCK5 lead to truncated or non-functional protein, impairing Rac1 activation and cell migration.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in DOCK5.
Dominant Negative (DN)
No dominant-negative mutations described for DOCK5.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Rho GTPase cycle (R-HSA-194840)
• Rac1/Pak1/p38/MMP2 pathway
• Integrin signaling pathway
Protein Summary
DOCK5 is a 1866-amino acid protein containing a DHR-2 (DOCK homology region 2) domain responsible for GEF activity toward Rac1 and Cdc42. It lacks the canonical Dbl-homology (DH) domain found in other GEFs. DOCK5 localizes to the cytoplasm and membrane, and its activity is regulated by phosphorylation and interaction with ELMO proteins. It is essential for osteoclast podosome formation and bone resorption.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DOCK5 Knockout HEK293 Cell Line | EDJ-KQ2013 | Human | 80005 | Details Get a Quote |
| DOCK5 Knockout A-549 Cell Line | EDJ-KQ22036 | Human | 80005 | Details Get a Quote |
| DOCK5 Knockout HeLa Cell Line | EDJ-KQ22038 | Human | 80005 | Details Get a Quote |
| DOCK5 Knockout HCT 116 Cell Line | EDJ-KQ20736 | Human | 80005 | Details Get a Quote |
