DOCK8 dedicator of cytokinesis 8 [Homo sapiens (human)]
| Gene Symbol | DOCK8 |
| Entrez Gene ID | 81704 |
| Full Name | dedicator of cytokinesis 8 |
| Synonyms | FLJ00026, FLJ00152, FLJ00346, MRD2, ZIR8 |
| Gene Type | protein-coding |
| Organism | Homo sapiens (human) |
| Genome |
9 9p24.3 |
| Summary | This gene encodes a member of the DOCK180 family of guanine nucleotide exchange factors. Guanine nucleotide exchange factors interact with Rho GTPases and are components of intracellular signaling networks. Mutations in this gene result in the autosomal recessive form of the hyper-IgE syndrome. Alternatively spliced transcript variants encoding different isoforms have been described. |
| Disorder | MIM: 611432 Mental retardation, autosomal dominant 2 (3); Hyper-IgE recurrent |
| mRNA | NM_001190458, 299473743 |
| Protein | NP_001177387, 299473744 |
| Product | dedicator of cytokinesis protein 8 isoform 2 |
| RefSeq Status | REVIEWED |
| mRNA | NM_203447, 254750683 |
| Protein | NP_982272, 238231392 |
| Product | dedicator of cytokinesis protein 8 isoform 1 |
| RefSeq Status | REVIEWED |
| mRNA | NM_001193536, 302129690 |
| Protein | NP_001180465, 302129691 |
| Product | dedicator of cytokinesis protein 8 isoform 3 |
| RefSeq Status | REVIEWED |
| REACT_604 | Hemostasis |
| REACT_24970 | Factors involved in megakaryocyte development and platelet production |
| Homo sapiens (human) | DOCK8 | NP_982272.2 |
| Pan troglodytes (chimpanzee) | DOCK8 | XP_528526.2 |
| Canis lupus familiaris (dog) | DOCK8 | XP_533535.2 |
| Mus musculus (house mouse) | Dock8 | NP_083061.2 |
| Rattus norvegicus (Norway rat) | Dock8 | XP_001056091.1 |
| Gallus gallus (chicken) | DOCK8 | XP_424926.2 |
| Danio rerio (zebrafish) | dock8 | XP_001920107.2 |
| ID | Name | Evidence |
| GO:0007596 | blood coagulation | TAS |
Component
| ID | Name | Evidence |
| GO:0005829 | cytosol | TAS |
Function
| ID | Name | Evidence |
| GO:0005085 | guanyl-nucleotide exchange factor activity | IEA |
| GO:0005488 | binding | IEA |
| GO:0005525 | GTP binding | IEA |
| GO:0051020 | GTPase binding | IEA |
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