DOCK4 Chromosome 7
Dedicator of cytokinesis 4
Upload your DNA to see your personal genotypes for variants in DOCK4.
What This Gene Does
This gene is a member of the dedicator of cytokinesis (DOCK) family and encodes a protein with a DHR-1 (CZH-1) domain, a DHR-2 (CZH-2) domain and an SH3 domain. This membrane-associated, cytoplasmic protein functions as a guanine nucleotide exchange factor and is involved in regulation of adherens junctions between cells. Mutations in this gene have been associated with ovarian, prostate, glioma, and colorectal cancers. Alternatively spliced variants which encode different protein isoforms have been described, but only one has been fully characterized. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
DOCK family Rho GEFs
Locus Type
gene with protein product
Location
7q31.1
Ensembl
ENSG00000128512
Associated Conditions (1)
Neurodevelopmental disorder
Key Variants
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1799458667 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2536768544 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2536798545 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |