CR2 Chromosome 1
Complement C3d receptor 2
Upload your DNA to see your personal genotypes for variants in CR2.
What This Gene Does
This gene encodes a membrane protein, which functions as a receptor for Epstein-Barr virus (EBV) binding on B and T lymphocytes. Genetic variations in this gene are associated with susceptibility to systemic lupus erythematosus type 9 (SLEB9). Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
Gene Info
Gene Group
"CD molecules|Sushi domain containing|Complement system regulators and receptors"
Locus Type
gene with protein product
Location
1q32.2
Ensembl
ENSG00000117322
Associated Conditions (13)
Immunodeficiency
common variable
7
CR2-related disorder
Systemic lupus erythematosus
susceptibility to
9
Inborn genetic diseases
Ovarian serous cystadenocarcinoma
Thymoma
Familial cancer of breast
Joubert syndrome 17
2
Key Variants
RS139230275
Conflicting classifications of pathogenicity
Immunodeficiency, common variable, 7
Health Risk
RS141472681
Conflicting classifications of pathogenicity
Immunodeficiency, common variable, 7
Health Risk
RS141831783
Conflicting classifications of pathogenicity
Immunodeficiency, common variable, 7
Health Risk
RS142648420
Conflicting classifications of pathogenicity
Immunodeficiency, common variable, 7
Health Risk
RS143614333
Conflicting classifications of pathogenicity
Immunodeficiency, common variable, 7
Health Risk
RS144014118
Conflicting classifications of pathogenicity
Immunodeficiency, common variable, 7
Health Risk
RS146749523
Conflicting classifications of pathogenicity
Immunodeficiency, common variable, 7
Health Risk
RS147393483
Conflicting classifications of pathogenicity
Immunodeficiency, common variable, 7
Health Risk
RS147451324
Conflicting classifications of pathogenicity
Immunodeficiency, common variable, 7
Health Risk
RS147633291
Conflicting classifications of pathogenicity
Immunodeficiency, common variable, 7
Health Risk
RS147638245
Conflicting classifications of pathogenicity
Immunodeficiency, common variable, 7
Health Risk
RS150622293
Conflicting classifications of pathogenicity
Immunodeficiency, common variable, 7
Health Risk
All Variants (76)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1572952530 | Health Risk | Pathogenic | Immunodeficiency, common variable, 7 |
| RS1658223688 | Health Risk | Pathogenic | Immunodeficiency, common variable, 7 |
| RS1658320297 | Health Risk | Pathogenic | Immunodeficiency, common variable, 7 |
| RS1658357615 | Health Risk | Pathogenic | Immunodeficiency, common variable, 7 |
| RS1658371275 | Health Risk | Pathogenic | Immunodeficiency, common variable, 7 |
| RS185689791 | Health Risk | Pathogenic | Immunodeficiency, common variable, 7 |
| RS201017642 | Health Risk | Pathogenic | Immunodeficiency, common variable, 7 |
| RS2102308703 | Health Risk | Pathogenic | Immunodeficiency, common variable, 7 |
| RS2527218073 | Health Risk | Pathogenic | Immunodeficiency, common variable, 7 |
| RS2527219225 | Health Risk | Pathogenic | Immunodeficiency, common variable, 7 |
| RS2527222545 | Health Risk | Pathogenic | Immunodeficiency, common variable, 7 |
| RS2527225441 | Health Risk | Pathogenic | Immunodeficiency, common variable, 7 |
| RS2527252200 | Health Risk | Pathogenic | Immunodeficiency, common variable, 7 |
| RS369363360 | Health Risk | Pathogenic | Immunodeficiency, common variable, 7 |
| RS370988625 | Health Risk | Pathogenic | — |
| RS398122863 | Health Risk | Pathogenic | Immunodeficiency, common variable, 7 |
| RS398122864 | Health Risk | Pathogenic | Immunodeficiency, common variable, 7 |
| RS749636258 | Health Risk | Pathogenic | Immunodeficiency, common variable, 7 |
| RS750238787 | Health Risk | Pathogenic | Immunodeficiency, common variable, 7 |
| RS763336891 | Health Risk | Pathogenic | Immunodeficiency, common variable, 7 |
| RS766671758 | Health Risk | Pathogenic | Immunodeficiency, common variable, 7 |
| RS867610056 | Health Risk | Pathogenic | Immunodeficiency, common variable, 7 |
| RS868255776 | Health Risk | Pathogenic | Immunodeficiency, common variable, 7 |
| RS890412935 | Health Risk | Pathogenic | Immunodeficiency, common variable, 7 |
| RS747713309 | Health Risk | Pathogenic/Likely pathogenic | Immunodeficiency, common variable, 7 |
| RS747832403 | Health Risk | Pathogenic/Likely pathogenic | Immunodeficiency, common variable, 7 |