DOCK3 Chromosome 3
Dedicator of cytokinesis 3
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What This Gene Does
This gene is specifically expressed in the central nervous system (CNS). It encodes a member of the DOCK (dedicator of cytokinesis) family of guanine nucleotide exchange factors (GEFs). This protein, dedicator of cytokinesis 3 (DOCK3), is also known as modifier of cell adhesion (MOCA) and presenilin-binding protein (PBP). The DOCK3 and DOCK1, -2 and -4 share several conserved amino acids in their DHR-2 (DOCK homology region 2) domains that are required for GEF activity, and bind directly to WAVE proteins [Wiskott-Aldrich syndrome protein (WASP) family Verprolin-homologous proteins] via their DHR-1 domains. The DOCK3 induces axonal outgrowth in CNS by stimulating membrane recruitment of the WAVE complex and activating the small G protein Rac1. This gene is associated with an attention deficit hyperactivity disorder-like phenotype by a complex chromosomal rearrangement. [provided by RefSeq, Aug 2010]
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
3p21.2
Ensembl
ENSG00000088538
Associated Conditions (7)
Neurodevelopmental disorder with impaired intellectual development
hypotonia
and ataxia
Inborn genetic diseases
DOCK3-related disorder
Hypotonia
Global developmental delay
Key Variants
RS142515812
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia
Health Risk
RS148159031
Conflicting classifications of pathogenicity
Health Risk
RS950181650
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1378797018
Likely pathogenic
DOCK3-related disorder, DOCK3-related disorder
Health Risk
RS1560212751
Likely pathogenic
Hypotonia, Global developmental delay, Neurodevelopmental disorder with impaired intellectual development
Health Risk
RS2548199661
Likely pathogenic
DOCK3-related disorder, DOCK3-related disorder
Health Risk
RS2549285187
Likely pathogenic
DOCK3-related disorder, DOCK3-related disorder
Health Risk
RS1553749681
Pathogenic
Inborn genetic diseases, Neurodevelopmental disorder with impaired intellectual development, hypotonia
Health Risk
RS1560414254
Pathogenic
Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia
Health Risk
RS2107262663
Pathogenic
Health Risk
RS2107729763
Pathogenic
Health Risk
All Variants (11)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS142515812 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia |
| RS148159031 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS950181650 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1378797018 | Health Risk | Likely pathogenic | DOCK3-related disorder, DOCK3-related disorder |
| RS1560212751 | Health Risk | Likely pathogenic | Hypotonia, Global developmental delay, Neurodevelopmental disorder with impaired intellectual development |
| RS2548199661 | Health Risk | Likely pathogenic | DOCK3-related disorder, DOCK3-related disorder |
| RS2549285187 | Health Risk | Likely pathogenic | DOCK3-related disorder, DOCK3-related disorder |
| RS1553749681 | Health Risk | Pathogenic | Inborn genetic diseases, Neurodevelopmental disorder with impaired intellectual development, hypotonia |
| RS1560414254 | Health Risk | Pathogenic | Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia |
| RS2107262663 | Health Risk | Pathogenic | — |
| RS2107729763 | Health Risk | Pathogenic | — |