CD55 Chromosome 1
CD55 molecule (Cromer blood group)
Upload your DNA to see your personal genotypes for variants in CD55.
What This Gene Does
This gene encodes a glycoprotein involved in the regulation of the complement cascade. Binding of the encoded protein to complement proteins accelerates their decay, thereby disrupting the cascade and preventing damage to host cells. Antigens present on this protein constitute the Cromer blood group system (CROM). Alternative splicing results in multiple transcript variants. The predominant transcript variant encodes a membrane-bound protein, but alternatively spliced transcripts may produce soluble proteins. [provided by RefSeq, Jul 2014]
Gene Info
Gene Group
"Blood group antigens|CD molecules|Sushi domain containing|Complement system regulators and receptors"
Locus Type
gene with protein product
Location
1q32.2
Ensembl
ENSG00000196352
Associated Conditions (6)
Inborn genetic diseases
CD55-related disorder
Cromer blood group system
Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome
CROMER BLOOD GROUP SYSTEM
Dr(a-) PHENOTYPE
Key Variants
RS28371588
Conflicting classifications of pathogenicity
Health Risk
RS767750936
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1458492476
Likely pathogenic
CD55-related disorder, CD55-related disorder
Health Risk
RS2526922942
Likely pathogenic
CD55-related disorder, CD55-related disorder
Health Risk
RS2526947236
Likely pathogenic
Health Risk
RS2526964523
Likely pathogenic
Health Risk
RS376304458
Likely pathogenic
CD55-related disorder, CD55-related disorder
Health Risk
RS752360687
Likely pathogenic
Cromer blood group system, Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome, Cromer blood group system
Health Risk
RS879246194
Likely pathogenic
Health Risk
RS1114167430
Pathogenic
Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome, Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome
Health Risk
RS1135402914
Pathogenic
CROMER BLOOD GROUP SYSTEM, Dr(a-) PHENOTYPE, Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome
Health Risk
RS1135402915
Pathogenic
Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome, Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome
Health Risk
All Variants (25)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS28371588 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS767750936 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1458492476 | Health Risk | Likely pathogenic | CD55-related disorder, CD55-related disorder |
| RS2526922942 | Health Risk | Likely pathogenic | CD55-related disorder, CD55-related disorder |
| RS2526947236 | Health Risk | Likely pathogenic | — |
| RS2526964523 | Health Risk | Likely pathogenic | — |
| RS376304458 | Health Risk | Likely pathogenic | CD55-related disorder, CD55-related disorder |
| RS752360687 | Health Risk | Likely pathogenic | Cromer blood group system, Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome, Cromer blood group system |
| RS879246194 | Health Risk | Likely pathogenic | — |
| RS1114167430 | Health Risk | Pathogenic | Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome, Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome |
| RS1135402914 | Health Risk | Pathogenic | CROMER BLOOD GROUP SYSTEM, Dr(a-) PHENOTYPE, Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome |
| RS1135402915 | Health Risk | Pathogenic | Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome, Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome |
| RS1135402916 | Health Risk | Pathogenic | Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome, Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome |
| RS1135402917 | Health Risk | Pathogenic | Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome, Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome |
| RS1135402918 | Health Risk | Pathogenic | Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome, Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome |
| RS121909603 | Health Risk | Pathogenic | Cromer blood group system, Cromer blood group system |
| RS1391706310 | Health Risk | Pathogenic | — |
| RS1654921932 | Health Risk | Pathogenic | — |
| RS2526924702 | Health Risk | Pathogenic | — |
| RS2526924725 | Health Risk | Pathogenic | — |
| RS369907962 | Health Risk | Pathogenic | — |
| RS762195469 | Health Risk | Pathogenic | — |
| RS773074921 | Health Risk | Pathogenic/Likely pathogenic | Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome, Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome |
| RS1131690771 | Trait | Affects | Cromer blood group system, Cromer blood group system |
| RS869312818 | Trait | Affects | Cromer blood group system, Cromer blood group system |