Gene: DOCK2

Alternate names for this Gene: IMD40

Gene Summary: 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.

Gene is located in Chromosome: 5

Location in Chromosome : 5q35.1

Description of this Gene: dedicator of cytokinesis 2

Type of Gene: protein-coding

rs7729471 in DOCK2 gene and Adolescent idiopathic scoliosis PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs1561585424 in DOCK2 gene and IMMUNODEFICIENCY 40 PMID 26083206 2015 Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections.

rs6860963 in DOCK2 gene and Intelligence PMID 29942086 2018 Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence.

rs169082 in DOCK2 gene and Leptin measurement PMID 18464913 2008 A genome-wide association study identifies protein quantitative trait loci (pQTLs).

rs13155521 in DOCK2 gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

rs76551843 in DOCK2 gene and Prostate carcinoma PMID 29892016 2018 Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci.

rs7729471 in DOCK2 gene and SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.