DOCK6 Chromosome 19
Dedicator of cytokinesis 6
Upload your DNA to see your personal genotypes for variants in DOCK6.
What This Gene Does
This gene encodes a member of the dedicator of cytokinesis (DOCK) family of atypical guanine nucleotide exchange factors. Guanine nucleotide exchange factors interact with small GTPases and are components of intracellular signaling networks. The encoded protein is a group C DOCK protein and plays a role in actin cytoskeletal reorganization by activating the Rho GTPases Cdc42 and Rac1. Mutations in this gene are associated with Adams-Oliver syndrome 2. [provided by RefSeq, Dec 2011]
Gene Info
Gene Group
DOCK family Rho GEFs
Locus Type
gene with protein product
Location
19p13.2
Ensembl
ENSG00000130158
Associated Conditions (13)
DOCK6-related disorder
Intellectual disability
Bone Paget disease
Adams-Oliver syndrome 2
Inborn genetic diseases
See cases
Microcephaly
Malignant tumor of urinary bladder
Sarcoma
Nonpapillary renal cell carcinoma
Ovarian serous cystadenocarcinoma
Adams-Oliver syndrome 1
Adams-Oliver syndrome
Key Variants
RS115035890
Conflicting classifications of pathogenicity
DOCK6-related disorder, DOCK6-related disorder
Health Risk
RS183060698
Conflicting classifications of pathogenicity
Intellectual disability, Bone Paget disease, DOCK6-related disorder
Health Risk
RS199838752
Conflicting classifications of pathogenicity
Adams-Oliver syndrome 2, DOCK6-related disorder, Adams-Oliver syndrome 2
Health Risk
RS199922090
Conflicting classifications of pathogenicity
DOCK6-related disorder, DOCK6-related disorder
Health Risk
RS200042437
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS200390354
Conflicting classifications of pathogenicity
DOCK6-related disorder, DOCK6-related disorder
Health Risk
RS200393834
Conflicting classifications of pathogenicity
Health Risk
RS200408941
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS200935357
Conflicting classifications of pathogenicity
Adams-Oliver syndrome 2, DOCK6-related disorder, Inborn genetic diseases
Health Risk
RS201065561
Conflicting classifications of pathogenicity
Adams-Oliver syndrome 2, DOCK6-related disorder, Inborn genetic diseases
Health Risk
RS201738818
Conflicting classifications of pathogenicity
DOCK6-related disorder, DOCK6-related disorder
Health Risk
RS202209921
Conflicting classifications of pathogenicity
Inborn genetic diseases, DOCK6-related disorder, Inborn genetic diseases
Health Risk
All Variants (92)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS115035890 | Health Risk | Conflicting classifications of pathogenicity | DOCK6-related disorder, DOCK6-related disorder |
| RS183060698 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, Bone Paget disease, DOCK6-related disorder |
| RS199838752 | Health Risk | Conflicting classifications of pathogenicity | Adams-Oliver syndrome 2, DOCK6-related disorder, Adams-Oliver syndrome 2 |
| RS199922090 | Health Risk | Conflicting classifications of pathogenicity | DOCK6-related disorder, DOCK6-related disorder |
| RS200042437 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS200390354 | Health Risk | Conflicting classifications of pathogenicity | DOCK6-related disorder, DOCK6-related disorder |
| RS200393834 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200408941 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS200935357 | Health Risk | Conflicting classifications of pathogenicity | Adams-Oliver syndrome 2, DOCK6-related disorder, Inborn genetic diseases |
| RS201065561 | Health Risk | Conflicting classifications of pathogenicity | Adams-Oliver syndrome 2, DOCK6-related disorder, Inborn genetic diseases |
| RS201738818 | Health Risk | Conflicting classifications of pathogenicity | DOCK6-related disorder, DOCK6-related disorder |
| RS202209921 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, DOCK6-related disorder, Inborn genetic diseases |
| RS35881692 | Health Risk | Conflicting classifications of pathogenicity | DOCK6-related disorder, Inborn genetic diseases, DOCK6-related disorder |
| RS368322024 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS369609034 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS372031674 | Health Risk | Conflicting classifications of pathogenicity | DOCK6-related disorder, Inborn genetic diseases, DOCK6-related disorder |
| RS373215445 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS373956807 | Health Risk | Conflicting classifications of pathogenicity | See cases, Inborn genetic diseases, See cases |
| RS374307163 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS539690413 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS564554926 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly, Inborn genetic diseases, Microcephaly |
| RS576108168 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS7249952 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, DOCK6-related disorder, Inborn genetic diseases |
| RS758680661 | Health Risk | Conflicting classifications of pathogenicity | Adams-Oliver syndrome 2, Adams-Oliver syndrome 2 |
| RS760454261 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS763073235 | Health Risk | Conflicting classifications of pathogenicity | DOCK6-related disorder, DOCK6-related disorder |
| RS766279840 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS776302141 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Adams-Oliver syndrome 2, Inborn genetic diseases |
| RS777612317 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS778082263 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Adams-Oliver syndrome 2, Inborn genetic diseases |
| RS1169546944 | Health Risk | Likely pathogenic | Adams-Oliver syndrome 2, Malignant tumor of urinary bladder, Adams-Oliver syndrome 2 |
| RS1170041461 | Health Risk | Likely pathogenic | — |
| RS1280482569 | Health Risk | Likely pathogenic | Inborn genetic diseases, Adams-Oliver syndrome 2, Inborn genetic diseases |
| RS1372903813 | Health Risk | Likely pathogenic | — |
| RS1428887459 | Health Risk | Likely pathogenic | — |
| RS1600890487 | Health Risk | Likely pathogenic | — |
| RS2080306272 | Health Risk | Likely pathogenic | — |
| RS2147691056 | Health Risk | Likely pathogenic | — |
| RS2147805055 | Health Risk | Likely pathogenic | — |
| RS2147832572 | Health Risk | Likely pathogenic | — |
| RS2512917818 | Health Risk | Likely pathogenic | — |
| RS368262294 | Health Risk | Likely pathogenic | Sarcoma, Sarcoma |
| RS538506091 | Health Risk | Likely pathogenic | Adams-Oliver syndrome 2, Nonpapillary renal cell carcinoma, Adams-Oliver syndrome 2 |
| RS748069737 | Health Risk | Likely pathogenic | — |
| RS754615545 | Health Risk | Likely pathogenic | — |
| RS754888606 | Health Risk | Likely pathogenic | — |
| RS756379625 | Health Risk | Likely pathogenic | — |
| RS757170859 | Health Risk | Likely pathogenic | DOCK6-related disorder, DOCK6-related disorder |
| RS761549734 | Health Risk | Likely pathogenic | Adams-Oliver syndrome 2, Adams-Oliver syndrome 2 |
| RS761856660 | Health Risk | Likely pathogenic | Intellectual disability, Intellectual disability |