CR2 (Complement C3d Receptor 2)

CD21, Complement Receptor Type 2

Gene Information Card

Symbol CR2
Full Name Complement C3d Receptor 2
Gene Type protein-coding
Chromosomal Location 1q32.2
NCBI Gene ID 1380 ncbi.nlm.nih.gov/gene/1380
Ensembl ID ENSG00000117322
UniProt ID P20023
OMIM ID 120650
HGNC ID 2336
Aliases CD21, C3DR, CR2, complement receptor type 2, Epstein-Barr virus receptor

Description

The CR2 gene encodes complement receptor type 2 (CD21), a membrane protein expressed on mature B cells, follicular dendritic cells, and some T cells. It binds complement fragments iC3b, C3dg, and C3d, and serves as the receptor for Epstein-Barr virus (EBV). CR2 forms a complex with CD19 and CD81 to modulate B cell activation and immune response. Mutations in CR2 are associated with immunodeficiency and systemic lupus erythematosus.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Immunodeficiency, common variable, 7 (CVID7) Loss-of-function mutations impair B cell activation and antibody production ClinVar, OMIM
Systemic lupus erythematosus (SLE) Defective clearance of immune complexes due to reduced CR2 expression ClinVar, OMIM
Epstein-Barr virus infection CR2 serves as the primary receptor for EBV entry into B cells UniProt, NCBI

Expression Profile

Tissue Expression
Tissue nTPM level
Spleen 12.5 High
Lymph node 10.2 High
Bone marrow 6.8 Medium
Blood 5.1 Medium
Lung 0.9 Low
Cell Line Expression
Cell Line nTPM Notes
Raji (Burkitt lymphoma) 15.3 High CR2 expression
Daudi (Burkitt lymphoma) 14.1 High CR2 expression
K562 (leukemia) 0.2 Very low expression
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.172C>T (p.Arg58*) Nonsense Rare Loss of function; associated with CVID7
c.442G>A (p.Gly148Ser) Missense Rare Impaired C3d binding; linked to SLE
c.1000C>T (p.Arg334Cys) Missense Rare Reduced surface expression; immunodeficiency
Mutation functional classification

Loss of Function (LOF)

Nonsense and missense mutations that reduce CR2 expression or ligand binding lead to impaired B cell activation and immune deficiency (e.g., CVID7).

Gain of Function (GOF)

No confirmed gain-of-function mutations reported in CR2.

Dominant Negative (DN)

No dominant-negative mutations described for CR2.

Gene Ontology (GO)

• complement receptor activity • virus receptor activity
• B cell receptor signaling pathway • innate immune response
• cell surface receptor signaling pathway

Pathways

• Complement cascade (Reactome: R-HSA-166658)
• B cell receptor signaling (Reactome: R-HSA-983705)
• Epstein-Barr virus infection (KEGG: hsa05169)

Protein Summary

CR2 (CD21) is a 145 kDa type I transmembrane glycoprotein composed of 15-16 short consensus repeats (SCRs) in its extracellular domain. It binds complement fragments iC3b, C3dg, and C3d, and serves as the receptor for Epstein-Barr virus (EBV). CR2 forms a signaling complex with CD19 and CD81 on B cells, lowering the threshold for B cell activation. It is also expressed on follicular dendritic cells, where it retains immune complexes to facilitate antigen presentation. Mutations in CR2 cause common variable immunodeficiency type 7 (CVID7) and increase susceptibility to systemic lupus erythematosus.

Related Products

Product name Cat.No. Species Gene ID
CR2 Knockout HEK293 Cell Line EDJ-KQ3812 Human 1380 Details Get a Quote
CR2 Knockout HCT 116 Cell Line EDJ-KQ25941 Human 1380 Details Get a Quote
CR2 Knockout HeLa Cell Line EDJ-KQ52975 Human 1380 Details Get a Quote
CR2 Knockout A-549 Cell Line EDJ-KQ61442 Human 1380 Details Get a Quote
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