Gene: DOCK6

Alternate names for this Gene: AOS2|ZIR1

Gene Summary: 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.

Gene is located in Chromosome: 19

Location in Chromosome : 19p13.2

Description of this Gene: dedicator of cytokinesis 6

Type of Gene: protein-coding

rs372751467 in DOCK6 gene and Adams-Oliver syndrome 1 PMID 29924900 2018 Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort.

PMID 26457590 2015 DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies.

rs12979813 in DOCK6 gene and High density lipoprotein measurement PMID 23726366 2013 Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations.

PMID 31217584 2019 Genetic analyses of diverse populations improves discovery for complex traits.

PMID 31393916 2019 Genetically regulated gene expression underlies lipid traits in Hispanic cohorts.

PMID 28334899 2017 Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels.

PMID 24097068 2013 Discovery and refinement of loci associated with lipid levels.

PMID 20686565 2010 Biological, clinical and population relevance of 95 loci for blood lipids.

PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

PMID 30926973 2019 Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids.

rs12979813 in DOCK6 gene and Low density lipoprotein cholesterol measurement PMID 31217584 2019 Genetic analyses of diverse populations improves discovery for complex traits.

rs10406522 in DOCK6 gene and Rheumatic aortic stenosis PMID 29511194 2018 Genome-wide analysis yields new loci associating with aortic valve stenosis.

rs12979813 in DOCK6 gene and Serum HDL cholesterol measurement PMID 23726366 2013 Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations.

PMID 24097068 2013 Discovery and refinement of loci associated with lipid levels.

PMID 20686565 2010 Biological, clinical and population relevance of 95 loci for blood lipids.

rs12979813 in DOCK6 gene and Serum total cholesterol measurement PMID 31217584 2019 Genetic analyses of diverse populations improves discovery for complex traits.

PMID 30718733 2019 The Korea Biobank Array: Design and Identification of Coding Variants Associated with Blood Biochemical Traits.

PMID 28334899 2017 Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels.

PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.