rs2177268

This is a intron variant variant in the RHOA gene.

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Research that mentions this SNP (1)

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Investigation of the association between Rho/Rho-kinase gene polymorphisms and systemic sclerosis
AssociationN=641Yavuz Pehlivan et al.(2016)· Rheumatology International

A multicenter case-control study investigating the association between Rho/Rho-kinase gene polymorphisms and systemic sclerosis (SSc) in a Turkish population. The study of 339 SSc patients and 302 healthy controls identified significant associations with rs35996865 (ROCK1, p=0.0005), rs10178332 (ROCK2, p<0.001), rs2177268 (RhoA, p<0.001), and rs11102522 and rs11538960 (RhoC, p<0.001), suggesting these SNPs are important genetic risk factors for SSc development.

Traits studied:Cardiac involvementGastrointestinal system involvementPulmonary arterial hypertensionPulmonary involvementRaynaud's phenomenonRenal involvementSystemic sclerosis
PubMedDOIMetascience Observatory

About RHOA

This gene encodes a member of the Rho family of small GTPases, which cycle between inactive GDP-bound and active GTP-bound states and function as molecular switches in signal transduction cascades. Rho proteins promote reorganization of the actin cytoskeleton and regulate cell shape, attachment, and motility. Overexpression of this gene is associated with tumor cell proliferation and metastasis. Multiple alternatively spliced variants have been identified. [provided by RefSeq, Sep 2015]

View all RHOA variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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