Gene: ARHGAP4

Alternate names for this Gene: C1|RGC1|RhoGAP4|SrGAP4|p115

Gene Summary: This gene encodes a member of the rhoGAP family of proteins which play a role in the regulation of small GTP-binding proteins belonging to the RAS superfamily. The protein encoded by the orthologous gene in rat is localized to the Golgi complex and can redistribute to microtubules. The rat protein stimulates the activity of some Rho GTPases in vitro. Genomic deletions of this gene and a neighboring gene have been found in patients with nephrogenic diabetes insipidus. Multiple transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: X

Location in Chromosome : Xq28

Description of this Gene: Rho GTPase activating protein 4

Type of Gene: protein-coding

rs2269368 in ARHGAP4 gene and Lupus Erythematosus, Systemic PMID 19838195 2009 A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus.

rs2269368 in ARHGAP4 gene and Schizophrenia PMID 24043878 2014 SNPs with suggestive P values were identified within 2 genes that have been previously implicated in schizophrenia, MECP2 (rs2734647, P combined = 8.78 × 10(-7), OR = 1.28; rs2239464, P combined = 6.71 × 10(-6), OR = 1.26) and ARHGAP4 (rs2269368, P combined = 4.74 × 10(-7), OR = 1.25).