Identity
HGNC
LOCATION
9p24.3
LOCUSID
ALIAS
HEL-205,MRD2,ZIR8
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 81704
MIM: 611432
HGNC: 19191
Ensembl: ENSG00000107099
Variants:
dbSNP: 81704
ClinVar: 81704
TCGA: ENSG00000107099
COSMIC: DOCK8
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Hemostasis | REACTOME | R-HSA-109582 |
| Factors involved in megakaryocyte development and platelet production | REACTOME | R-HSA-983231 |
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA443622 | Carcinoma, Non-Small-Cell Lung | Disease | ClinicalAnnotation | associated | PD | 31616045 | |
| PA445846 | Thrombocytopenia | Disease | ClinicalAnnotation | associated | PD | 31616045 | |
| PA448803 | carboplatin | Chemical | ClinicalAnnotation | associated | PD | 31616045 | |
| PA449748 | gemcitabine | Chemical | ClinicalAnnotation | associated | PD | 31616045 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37815217 | 2024 | Clinical, immunological and molecular profiles of DOCK8 deficiency in six patients from a tertiary care centre in North India. | 0 |
| 38351896 | 2024 | Clinical, immunological, and genetic description of a Mexican cohort of patients with DOCK8 deficiency. | 0 |
| 37815217 | 2024 | Clinical, immunological and molecular profiles of DOCK8 deficiency in six patients from a tertiary care centre in North India. | 0 |
| 38351896 | 2024 | Clinical, immunological, and genetic description of a Mexican cohort of patients with DOCK8 deficiency. | 0 |
| 36508760 | 2023 | Insights into the pathogenesis of allergic disease from dedicator of cytokinesis 8 deficiency. | 1 |
| 36633785 | 2023 | Autoimmune myositis and autoimmune hemolytic anemia in two sisters with DOCK8-deficient hyper-IgE syndrome. | 0 |
| 37114940 | 2023 | Clinical, immunological and molecular findings of patients with DOCK-8 deficiency from India. | 0 |
| 37651233 | 2023 | Ectopic expression of DOCK8 regulates lysosome-mediated pancreatic tumor cell invasion. | 0 |
| 36508760 | 2023 | Insights into the pathogenesis of allergic disease from dedicator of cytokinesis 8 deficiency. | 1 |
| 36633785 | 2023 | Autoimmune myositis and autoimmune hemolytic anemia in two sisters with DOCK8-deficient hyper-IgE syndrome. | 0 |
| 37114940 | 2023 | Clinical, immunological and molecular findings of patients with DOCK-8 deficiency from India. | 0 |
| 37651233 | 2023 | Ectopic expression of DOCK8 regulates lysosome-mediated pancreatic tumor cell invasion. | 0 |
| 33634762 | 2022 | Novel Variants of DOCK8 Deficiency in a Case Series of Iranian Patients. | 0 |
| 35278713 | 2022 | Lack of DOCK8 impairs the primary biologic functions of human NK cells and abrogates CCR7 surface expression in a WASP-independent manner. | 1 |
| 35822685 | 2022 | Confirmation of Hyperimmunoglobulin E Syndrome in Two Patients with an Ocular Problem: Detection of Two New DOCK8 Mutations. | 0 |
Citation
Dessen P
DOCK8 (dedicator of cytokinesis 8)
Atlas Genet Cytogenet Oncol Haematol. 2010-01-01
Online version: http://atlasgeneticsoncology.org/gene/51268/dock8-(dedicator-of-cytokinesis-8)
