Gene: CDC42EP3
Alternate names for this Gene: BORG2|CEP3|UB1
Gene Summary: This gene encodes a member of a small family of guanosine triphosphate (GTP) metabolizing proteins that contain a CRIB (Cdc42, Rac interactive binding) domain. Members of this family of proteins act as effectors of CDC42 function. The encoded protein is involved in actin cytoskeleton re-organization during cell shape changes, including pseudopodia formation. A pseudogene of this gene is found on chromosome 19. Alternative splicing results in multiple transcript variants.
Gene is located in Chromosome: 2
Location in Chromosome : 2p22.2
Description of this Gene: CDC42 effector protein 3
Type of Gene: protein-coding
rs13406302 in
CDC42EP3 gene and
Waist-Hip Ratio
PMID 30575882 2018 Association of Genetic Variants Related to Gluteofemoral vs Abdominal Fat Distribution With Type 2 Diabetes, Coronary Disease, and Cardiovascular Risk Factors.
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.