ARHGEF5
Description
The ARHGEF5 (Rho guanine nucleotide exchange factor 5) is a protein-coding gene located on chromosome 7.
ARHGEF5 is a protein encoded by the ARHGEF5 gene in humans. Rho GTPases, which are activated by ARHGEF5, play a crucial role in cellular processes initiated by extracellular stimuli acting through G protein-coupled receptors. ARHGEF5 may form a complex with G proteins and stimulate Rho-dependent signals. This protein is thought to be involved in controlling cytoskeletal organization.
ARHGEF5 is a guanine nucleotide exchange factor (GEF) that activates Rho GTPases, particularly RHOA and RHOB. It weakly activates RHOC and RHOG, but has no effect on RHOD, RHOV, RHOQ, or RAC1. ARHGEF5 plays a role in regulating cell shape and actin cytoskeletal organization by promoting the loss of actin stress fibers and the formation of membrane ruffles and filopodia. It is required for SRC-induced podosome formation and is involved in the positive regulation of immature dendritic cell migration.
ARHGEF5 is also known as GEF5, P60, TIM, TIM1.
Associated Diseases
- severe combined immunodeficiency due to CARD11 deficiency
- hyper-IgM syndrome type 3
- reticular dysgenesis
- isolated agammaglobulinemia
- cancer
- severe combined immunodeficiency due to CTPS1 deficiency
- neutropenia, severe congenital, 1, autosomal dominant
- immunodeficiency 18
- agammaglobulinemia 7, autosomal recessive
- combined immunodeficiency due to moesin deficiency
- agammaglobulinemia 10, autosomal dominant
- Wiskott-Aldrich syndrome
- primary immunodeficiency syndrome due to p14 deficiency
- autoimmune lymphoproliferative syndrome type 2B
- hyper-IgE recurrent infection syndrome 5, autosomal recessive
- immunodeficiency 67
