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GenoLensGenoLens

CR2

Chr 1q32.2

complement C3d receptor 2

Aliases:
CD21, C3DR
MANE:
ENST00000367057.8

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • COVID-19 research

    BIALLELIC, autosomal or pseudoautosomal
  • Primary immunodeficiency or monogenic inflammatory bowel disease

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • immunodeficiency, common variable, 7

    0.75
  • common variable immunodeficiency

    0.48
  • systemic lupus erythematosus

    0.47
  • Recurrent infections

    0.37
  • recurrent infections associated with rare immunoglobulin isotypes deficiency

    0.37
  • immunodeficiency, common variable, 2

    0.33
  • urolithiasis

    0.30
  • alcohol drinking

    0.30
  • frozen shoulder

    0.28
  • hereditary disease

    0.19

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Complement receptor type 2

Serves as a receptor for various ligands including complement component CD3d, HNRNPU OR IFNA1 (PubMed:1849076, PubMed:21527715, PubMed:7753047). When C3d is bound to antigens, attaches to C3d on B-cell surface and thereby facilitates the recognition and uptake of antigens by B-cells (PubMed:21527715). This interaction enhances B-cell activation and subsequent immune responses. Forms a complex with several partners on the surface of B-cells including CD19, FCRL5 and CD81, to form the B-cell coreceptor complex that plays a crucial role in B-cell activation and signaling (PubMed:1383329, PubMed:30107486). Also induces specific intracellular signaling separately from the BCR and CD19 by activating the tyrosine kinase SRC, which then phosphorylates nucleolin/NCL and triggers AKT and GSK3 kinase activities in a SYK/CD19-independent manner (PubMed:12938232). Acts as a ligand for CD23 (FcepsilonRII), a low-affinity receptor for IgE, which is expressed on B-cells and other immune cells, and thus participates in the regulation of IgE production (PubMed:1386409)

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.