DOCK2 Chromosome 5
Dedicator of cytokinesis 2
Upload your DNA to see your personal genotypes for variants in DOCK2.
What This Gene Does
The protein encoded by this gene belongs to the CDM protein family. It is specifically expressed in hematopoietic cells and is predominantly expressed in peripheral blood leukocytes. The protein is involved in remodeling of the actin cytoskeleton required for lymphocyte migration in response to chemokine signaling. It activates members of the Rho family of GTPases, for example RAC1 and RAC2, by acting as a guanine nucleotide exchange factor (GEF) to exchange bound GDP for free GTP. Mutations in this gene result in immunodeficiency 40 (IMD40), a combined form of immunodeficiency that affects T cell number and function, also with variable defects in B cell and NK cell function. [provided by RefSeq, May 2018]
Gene Info
Gene Group
"Armadillo like helical domain containing|DOCK family Rho GEFs|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
5q35.1
Ensembl
ENSG00000134516
Associated Conditions (6)
DOCK2 deficiency
Pancreatic adenocarcinoma
DOCK2-related disorder
Inborn genetic diseases
See cases
Acute myeloid leukemia
Key Variants
RS112062072
Conflicting classifications of pathogenicity
DOCK2 deficiency, Pancreatic adenocarcinoma, DOCK2 deficiency
Health Risk
RS113289730
Conflicting classifications of pathogenicity
DOCK2 deficiency, DOCK2 deficiency
Health Risk
RS113673055
Conflicting classifications of pathogenicity
DOCK2 deficiency, DOCK2-related disorder, DOCK2 deficiency
Health Risk
RS114888195
Conflicting classifications of pathogenicity
DOCK2 deficiency, DOCK2-related disorder, Inborn genetic diseases
Health Risk
RS1295678117
Conflicting classifications of pathogenicity
DOCK2 deficiency, DOCK2 deficiency
Health Risk
RS141501849
Conflicting classifications of pathogenicity
DOCK2 deficiency, DOCK2-related disorder, Inborn genetic diseases
Health Risk
RS141894939
Conflicting classifications of pathogenicity
DOCK2 deficiency, DOCK2-related disorder, Inborn genetic diseases
Health Risk
RS143100569
Conflicting classifications of pathogenicity
DOCK2 deficiency, DOCK2-related disorder, Inborn genetic diseases
Health Risk
RS146886839
Conflicting classifications of pathogenicity
DOCK2 deficiency, DOCK2-related disorder, Inborn genetic diseases
Health Risk
RS148694888
Conflicting classifications of pathogenicity
DOCK2 deficiency, DOCK2 deficiency
Health Risk
RS149411090
Conflicting classifications of pathogenicity
DOCK2 deficiency, DOCK2 deficiency
Health Risk
RS1764493514
Conflicting classifications of pathogenicity
DOCK2 deficiency, Inborn genetic diseases, DOCK2 deficiency
Health Risk
All Variants (42)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS112062072 | Health Risk | Conflicting classifications of pathogenicity | DOCK2 deficiency, Pancreatic adenocarcinoma, DOCK2 deficiency |
| RS113289730 | Health Risk | Conflicting classifications of pathogenicity | DOCK2 deficiency, DOCK2 deficiency |
| RS113673055 | Health Risk | Conflicting classifications of pathogenicity | DOCK2 deficiency, DOCK2-related disorder, DOCK2 deficiency |
| RS114888195 | Health Risk | Conflicting classifications of pathogenicity | DOCK2 deficiency, DOCK2-related disorder, Inborn genetic diseases |
| RS1295678117 | Health Risk | Conflicting classifications of pathogenicity | DOCK2 deficiency, DOCK2 deficiency |
| RS141501849 | Health Risk | Conflicting classifications of pathogenicity | DOCK2 deficiency, DOCK2-related disorder, Inborn genetic diseases |
| RS141894939 | Health Risk | Conflicting classifications of pathogenicity | DOCK2 deficiency, DOCK2-related disorder, Inborn genetic diseases |
| RS143100569 | Health Risk | Conflicting classifications of pathogenicity | DOCK2 deficiency, DOCK2-related disorder, Inborn genetic diseases |
| RS146886839 | Health Risk | Conflicting classifications of pathogenicity | DOCK2 deficiency, DOCK2-related disorder, Inborn genetic diseases |
| RS148694888 | Health Risk | Conflicting classifications of pathogenicity | DOCK2 deficiency, DOCK2 deficiency |
| RS149411090 | Health Risk | Conflicting classifications of pathogenicity | DOCK2 deficiency, DOCK2 deficiency |
| RS1764493514 | Health Risk | Conflicting classifications of pathogenicity | DOCK2 deficiency, Inborn genetic diseases, DOCK2 deficiency |
| RS201439364 | Health Risk | Conflicting classifications of pathogenicity | DOCK2 deficiency, Inborn genetic diseases, DOCK2 deficiency |
| RS749326729 | Health Risk | Conflicting classifications of pathogenicity | DOCK2 deficiency, See cases, DOCK2 deficiency |
| RS778542070 | Health Risk | Conflicting classifications of pathogenicity | DOCK2 deficiency, DOCK2 deficiency |
| RS1035797449 | Health Risk | Likely pathogenic | DOCK2 deficiency, DOCK2 deficiency |
| RS1429834722 | Health Risk | Likely pathogenic | DOCK2 deficiency, Acute myeloid leukemia, DOCK2 deficiency |
| RS1561585424 | Health Risk | Likely pathogenic | DOCK2 deficiency, DOCK2 deficiency |
| RS1561898523 | Health Risk | Likely pathogenic | DOCK2 deficiency, DOCK2 deficiency |
| RS1581049599 | Health Risk | Likely pathogenic | — |
| RS1581531492 | Health Risk | Likely pathogenic | DOCK2 deficiency, DOCK2 deficiency |
| RS1757824003 | Health Risk | Likely pathogenic | DOCK2 deficiency, DOCK2 deficiency |
| RS1761749097 | Health Risk | Likely pathogenic | DOCK2 deficiency, DOCK2 deficiency |
| RS2532467695 | Health Risk | Likely pathogenic | DOCK2 deficiency, DOCK2 deficiency |
| RS2532490041 | Health Risk | Likely pathogenic | DOCK2 deficiency, DOCK2 deficiency |
| RS2532522791 | Health Risk | Likely pathogenic | DOCK2 deficiency, DOCK2 deficiency |
| RS2532560930 | Health Risk | Likely pathogenic | DOCK2 deficiency, DOCK2 deficiency |
| RS780318765 | Health Risk | Likely pathogenic | DOCK2 deficiency, DOCK2 deficiency |
| RS142830212 | Health Risk | Pathogenic | DOCK2 deficiency, DOCK2 deficiency |
| RS1581090174 | Health Risk | Pathogenic | DOCK2 deficiency, DOCK2 deficiency |
| RS1756328793 | Health Risk | Pathogenic | DOCK2 deficiency, DOCK2 deficiency |
| RS1761023588 | Health Risk | Pathogenic | DOCK2 deficiency, DOCK2 deficiency |
| RS2113279864 | Health Risk | Pathogenic | DOCK2 deficiency, DOCK2 deficiency |
| RS2113291833 | Health Risk | Pathogenic | DOCK2 deficiency, DOCK2 deficiency |
| RS2113355272 | Health Risk | Pathogenic | DOCK2 deficiency, DOCK2 deficiency |
| RS2113559002 | Health Risk | Pathogenic | DOCK2 deficiency, DOCK2 deficiency |
| RS2113843664 | Health Risk | Pathogenic | DOCK2 deficiency, DOCK2 deficiency |
| RS2113874830 | Health Risk | Pathogenic | DOCK2 deficiency, DOCK2 deficiency |
| RS2532625303 | Health Risk | Pathogenic | — |
| RS2532626798 | Health Risk | Pathogenic | DOCK2 deficiency, DOCK2 deficiency |
| RS755691445 | Health Risk | Pathogenic | DOCK2 deficiency, DOCK2 deficiency |
| RS762909359 | Health Risk | Pathogenic | DOCK2 deficiency, DOCK2 deficiency |