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 |
|---|---|---|---|
| RS139230275 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency, common variable, 7 |
| RS141472681 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency, common variable, 7 |
| RS141831783 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency, common variable, 7 |
| RS142648420 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency, common variable, 7 |
| RS143614333 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency, common variable, 7 |
| RS144014118 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency, common variable, 7 |
| RS146749523 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency, common variable, 7 |
| RS147393483 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency, common variable, 7 |
| RS147451324 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency, common variable, 7 |
| RS147633291 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency, common variable, 7 |
| RS147638245 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency, common variable, 7 |
| RS150622293 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency, common variable, 7 |
| RS151093663 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency, common variable, 7 |
| RS200182370 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency, common variable, 7 |
| RS201223793 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency, common variable, 7 |
| RS201254169 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency, common variable, 7 |
| RS370106455 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency, common variable, 7 |
| RS372214909 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency, common variable, 7 |
| RS372838534 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency, common variable, 7 |
| RS543886209 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency, common variable, 7 |
| RS545091003 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency, common variable, 7 |
| RS565397037 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency, common variable, 7 |
| RS750302661 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency, common variable, 7 |
| RS751506325 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency, common variable, 7 |
| RS751868289 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency, common variable, 7 |
| RS75282758 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency, common variable, 7 |
| RS759786703 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency, common variable, 7 |
| RS763755514 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency, common variable, 7 |
| RS766120010 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency, common variable, 7 |
| RS772481080 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency, common variable, 7 |
| RS772865066 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency, common variable, 7 |
| RS1365226221 | Health Risk | Likely pathogenic | Immunodeficiency, common variable, 7 |
| RS1658174717 | Health Risk | Likely pathogenic | Immunodeficiency, common variable, 7 |
| RS1658388636 | Health Risk | Likely pathogenic | Immunodeficiency, common variable, 2 |
| RS1658562210 | Health Risk | Likely pathogenic | Immunodeficiency, common variable, 7 |
| RS200320927 | Health Risk | Likely pathogenic | Immunodeficiency, common variable, 7 |
| RS2102307813 | Health Risk | Likely pathogenic | Immunodeficiency, common variable, 7 |
| RS2527215447 | Health Risk | Likely pathogenic | Systemic lupus erythematosus, susceptibility to, 9 |
| RS2527223934 | Health Risk | Likely pathogenic | Immunodeficiency, common variable, 7 |
| RS2527224555 | Health Risk | Likely pathogenic | Immunodeficiency, common variable, 7 |
| RS764859619 | Health Risk | Likely pathogenic | Immunodeficiency, common variable, 7 |
| RS1030733127 | Health Risk | Pathogenic | Immunodeficiency, common variable, 7 |
| RS1161576814 | Health Risk | Pathogenic | Immunodeficiency, common variable, 7 |
| RS1265812765 | Health Risk | Pathogenic | Immunodeficiency, common variable, 7 |
| RS1331358695 | Health Risk | Pathogenic | Immunodeficiency, common variable, 7 |
| RS1334688271 | Health Risk | Pathogenic | Immunodeficiency, common variable, 7 |
| RS1402133337 | Health Risk | Pathogenic | Immunodeficiency, common variable, 7 |
| RS1468427986 | Health Risk | Pathogenic | Immunodeficiency, common variable, 7 |
| RS1558192723 | Health Risk | Pathogenic | Immunodeficiency, common variable, 7 |
| RS1572950925 | Health Risk | Pathogenic | Immunodeficiency, common variable, 7 |