rs138792300
This variant is located in the CFHR4 gene.
▶ClinVar annotation
not specified; Kidney disorder; not provided
View on ClinVar →▶Research that mentions this SNP (1)
▶Evidence for gene–gene epistatic interactions among susceptibility loci for systemic lupus erythematosusReviewHughes T. et al.(2012)· Arthritis & Rheumatism
A comprehensive review of genetic variants contributing to systemic lupus erythematosus (SLE), covering both polygenic (>100 susceptibility loci) and monogenic (1-10% of cases) contributions identified through NGS techniques. Key susceptibility genes include STAT4, BANK1, TNFAIP3, BLK, IRF5, ETS1, and TNIP1, with early-onset SLE showing greater genetic burden particularly in Black, Asian, and Hispanic ancestries.
About CFHR4
This gene is a member of the complement factor H (CFH) gene family, and encodes one of the 5 CFH-related (CFHR) proteins. These 5 genes are closely linked to the CFH gene on chromosome 1q31-q32. The CFHRs are secreted plasma proteins synthesized primarily by the hepatocytes, and composed of highly-related short consensus repeats (SCRs). This protein enhances the cofactor activity of CFH, and is involved in complement regulation. It can associate with lipoproteins and may play a role in lipid metabolism. Alternatively spliced transcript variants encoding different isoforms (varying in the number of SCRs) have been described for this gene. [provided by RefSeq, Jan 2011]
View all CFHR4 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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