CR2: Receptor for complement C3Dd, for the Epstein-Barr virus on human B-cells and T-cells and for HNRPU. Participates in B lymphocytes activation. Genetic variations in CR2 are associated with susceptibility to systemic lupus erythematosus type 9 (SLEB9). Systemic lupus erythematosus (SLE) is a chronic autoimmune disease with a complex genetic basis. SLE is an inflammatory, and often febrile multisystemic disorder of connective tissue characterized principally by involvement of the skin, joints, kidneys, and serosal membranes. It is thought to represent a failure of the regulatory mechanisms of the autoimmune system. Defects in CR2 are the cause of immunodeficiency, common variable, type 7 (CVID7). A primary immunodeficiency characterized by antibody deficiency, hypogammaglobulinemia, recurrent bacterial infections and an inability to mount an antibody response to antigen. The defect results from a failure of B-cell differentiation and impaired secretion of immunoglobulins; the numbers of circulating B cells is usually in the normal range, but can be low. Belongs to the receptors of complement activation (RCA) family. 4 isoforms of the human protein are produced by alternative splicing.
Protein type: Membrane protein, integral; Receptor, misc.
Chromosomal Location of Human Ortholog: 1q32
Cellular Component: integral to membrane; plasma membrane; receptor complex
Molecular Function: complement binding; complement receptor activity; DNA binding; protein homodimerization activity; transmembrane receptor activity; viral receptor activity
Biological Process: B cell differentiation; B cell proliferation; complement activation, classical pathway; complement receptor mediated signaling pathway; entry of virus into host cell; immune response; innate immune response; signal transduction
Disease: Immunodeficiency, Common Variable, 2; Immunodeficiency, Common Variable, 7; Systemic Lupus Erythematosus, Susceptibility To, 9
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