DOCK11
Dedicator of Cytokinesis 11
Gene Information Card
| Symbol | DOCK11 |
|---|---|
| Full Name | Dedicator of Cytokinesis 11 |
| Gene Type | Protein coding |
| Chromosomal Location | Xq24 |
| NCBI Gene ID | 139818 ncbi.nlm.nih.gov/gene/139818 |
| Ensembl ID | ENSG00000147180 |
| UniProt ID | Q5JSL3 |
| OMIM ID | 300992 |
| HGNC ID | 24529 |
| Aliases | ZIZ3, MGC129935, MGC129936 |
Description
DOCK11 (Dedicator of Cytokinesis 11) is a protein-coding gene located on the X chromosome. It encodes a guanine nucleotide exchange factor (GEF) that specifically activates RAC1, a small GTPase involved in cytoskeletal reorganization, cell migration, and immune cell function. DOCK11 is expressed predominantly in hematopoietic tissues and plays a critical role in B-cell development and antibody production. Mutations in DOCK11 are associated with X-linked combined immunodeficiency and have been implicated in certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| X-linked combined immunodeficiency | Loss-of-function mutations impair RAC1 activation, leading to defective B-cell development and antibody deficiency | ClinVar, OMIM |
| Systemic lupus erythematosus (susceptibility) | Altered DOCK11 expression may disrupt immune regulation | NCBI Gene, OMIM |
| Colorectal cancer | Somatic mutations and altered expression observed in tumor samples | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Spleen | 12.5 | Medium |
| Lymph node | 10.8 | Medium |
| Bone marrow | 8.3 | Low |
| Whole blood | 6.1 | Low |
| Lung | 2.4 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 (leukemia) | 15.2 | High expression |
| Raji (Burkitt lymphoma) | 14.7 | High expression |
| HEK 293 (embryonic kidney) | 1.3 | Low expression |
| HeLa (cervical carcinoma) | 0.9 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1975C>T (p.Arg659Trp) | Missense | Rare | Loss of GEF activity; associated with immunodeficiency |
| c.1234delG (p.Glu412Lysfs*2) | Frameshift | Rare | Loss of function; truncation |
| c.2560G>A (p.Gly854Arg) | Missense | Somatic (cancer) | Unknown functional effect; reported in COSMIC |
Mutation functional classification
Loss of Function (LOF)
Missense and frameshift mutations that impair RAC1-GEF activity or truncate the protein lead to loss of function, causing immunodeficiency.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in DOCK11.
Dominant Negative (DN)
Not described for DOCK11.
View complete mutation data：
Gene Ontology (GO)
Pathways
• RAC1 GTPase cycle (Reactome: R-HSA-9012999)
• Signaling by Rho GTPases (Reactome: R-HSA-194315)
• B cell receptor signaling (Reactome: R-HSA-983705)
Protein Summary
DOCK11 is a 2070-amino acid protein belonging to the DOCK family of atypical guanine nucleotide exchange factors. It contains a DHR-2 (DOCK homology region 2) domain responsible for catalyzing nucleotide exchange on RAC1, and a DHR-1 domain that mediates membrane localization. DOCK11 is essential for proper B-cell maturation and antibody class switching. Its expression is enriched in lymphoid tissues, and loss of function leads to immune deficiency. The protein also interacts with ELMO1 and other cytoskeletal regulators.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DOCK11 Knockout HEK293 Cell Line | EDJ-KQ9613 | Human | 139818 | Details Get a Quote |
| DOCK11 Knockout A-549 Cell Line | EDJ-KQ36437 | Human | 139818 | Details Get a Quote |
| DOCK11 Knockout HeLa Cell Line | EDJ-KQ36438 | Human | 139818 | Details Get a Quote |
| DOCK11 Knockout HCT 116 Cell Line | EDJ-KQ75318 | Human | 139818 | Details Get a Quote |
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