DOCK8
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.[provided by RefSeq, Jun 2010].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| dedicator of cytokinesis 8 | MIM:611432 | Ensembl:ENSG00000107099 | HGNC:HGNC:19191 | PA134918866 | 9p24.3 |
GO terms in DOCK8
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | IDA | GO:0005737 | cytoplasm |
| CC | TAS | GO:0005829 | cytosol |
| CC | HDA | GO:0016020 | membrane |
| CC | IDA | GO:0031256 | leading edge membrane |
| CC | IEA | GO:0031258 | lamellipodium membrane |
| BP | IEA | GO:0001771 | immunological synapse formation |
| BP | IEA | GO:0007264 | small GTPase mediated signal transduction |
| BP | TAS | GO:0007596 | blood coagulation |
| BP | IEA | GO:0036336 | dendritic cell migration |
| BP | IDA | GO:0043547 | positive regulation of GTPase activity |
| BP | IMP | GO:0061485 | memory T cell proliferation |
| BP | IEA | GO:0070233 | negative regulation of T cell apoptotic process |
| BP | IMP | GO:1903905 | positive regulation of establishment of T cell polarity |
| BP | IMP | GO:1990869 | cellular response to chemokine |
| BP | IMP | GO:2000406 | positive regulation of T cell migration |
| MF | IDA | GO:0005085 | guanyl-nucleotide exchange factor activity |
| MF | IPI | GO:0005515 | protein binding |
Gene expression in normal tissue: DOCK8
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in DOCK8
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-109582 | Hemostasis |
| reactome | R-HSA-983231 | Factors involved in megakaryocyte development and platelet production |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in DOCK8
CLASSFICATION
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