CD36 Chromosome 7
CD36 molecule (CD36 blood group)
Upload your DNA to see your personal genotypes for variants in CD36.
What This Gene Does
The protein encoded by this gene is the fourth major glycoprotein of the platelet surface and serves as a receptor for thrombospondin in platelets and various cell lines. Since thrombospondins are widely distributed proteins involved in a variety of adhesive processes, this protein may have important functions as a cell adhesion molecule. It binds to collagen, thrombospondin, anionic phospholipids and oxidized LDL. It directly mediates cytoadherence of Plasmodium falciparum parasitized erythrocytes and it binds long chain fatty acids and may function in the transport and/or as a regulator of fatty acid transport. Mutations in this gene cause platelet glycoprotein deficiency. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2014]
Gene Info
Gene Group
"Blood group antigens|CD molecules|Scavenger receptors"
Locus Type
gene with protein product
Location
7q21.11
Ensembl
ENSG00000135218
Associated Conditions (14)
Platelet-type bleeding disorder 10
CD36-related disorder
Osteopetrosis
Coronary heart disease
susceptibility to
7
Malaria
cerebral
Inherited bleeding disorder
platelet-type
Melanoma
Sarcoma
Nonpapillary renal cell carcinoma
See cases
Key Variants
RS138897347
Conflicting classifications of pathogenicity
Platelet-type bleeding disorder 10, CD36-related disorder, Platelet-type bleeding disorder 10
Health Risk
RS141626483
Conflicting classifications of pathogenicity
Platelet-type bleeding disorder 10, CD36-related disorder, Platelet-type bleeding disorder 10
Health Risk
RS146027667
Conflicting classifications of pathogenicity
Platelet-type bleeding disorder 10, Platelet-type bleeding disorder 10
Health Risk
RS148114593
Conflicting classifications of pathogenicity
Platelet-type bleeding disorder 10, Platelet-type bleeding disorder 10
Health Risk
RS185913608
Conflicting classifications of pathogenicity
Platelet-type bleeding disorder 10, Platelet-type bleeding disorder 10
Health Risk
RS188717259
Conflicting classifications of pathogenicity
Platelet-type bleeding disorder 10, Platelet-type bleeding disorder 10
Health Risk
RS200067322
Conflicting classifications of pathogenicity
Platelet-type bleeding disorder 10, CD36-related disorder, Platelet-type bleeding disorder 10
Health Risk
RS201657731
Conflicting classifications of pathogenicity
Platelet-type bleeding disorder 10, Osteopetrosis, Platelet-type bleeding disorder 10
Health Risk
RS3211893
Conflicting classifications of pathogenicity
Platelet-type bleeding disorder 10, Coronary heart disease, susceptibility to
Health Risk
RS3211938
Conflicting classifications of pathogenicity
Platelet-type bleeding disorder 10, Malaria, cerebral
Health Risk
RS545489204
Conflicting classifications of pathogenicity
Platelet-type bleeding disorder 10, Malaria, susceptibility to
Health Risk
RS56381858
Conflicting classifications of pathogenicity
Platelet-type bleeding disorder 10, Platelet-type bleeding disorder 10
Health Risk
All Variants (62)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS748431584 | Health Risk | Pathogenic | CD36-related disorder, Platelet-type bleeding disorder 10, Platelet-type bleeding disorder 10 |
| RS751471043 | Health Risk | Pathogenic | See cases, See cases |
| RS752886472 | Health Risk | Pathogenic | — |
| RS765809606 | Health Risk | Pathogenic | — |
| RS772709798 | Health Risk | Pathogenic | CD36-related disorder, CD36-related disorder |
| RS780525946 | Health Risk | Pathogenic | Platelet-type bleeding disorder 10, Platelet-type bleeding disorder 10 |
| RS550565800 | Health Risk | Pathogenic/Likely pathogenic | Platelet-type bleeding disorder 10, CD36-related disorder, Platelet-type bleeding disorder 10 |
| RS572295823 | Health Risk | Pathogenic/Likely pathogenic | Platelet-type bleeding disorder 10, Coronary heart disease, susceptibility to |
| RS753754773 | Health Risk | Pathogenic/Likely pathogenic | CD36-related disorder, Platelet-type bleeding disorder 10, CD36-related disorder |
| RS757142781 | Health Risk | Pathogenic/Likely pathogenic | Platelet-type bleeding disorder 10, Platelet-type bleeding disorder 10 |
| RS766920034 | Health Risk | Pathogenic/Likely pathogenic | Malaria, susceptibility to, Platelet-type bleeding disorder 10 |
| RS775478465 | Health Risk | Pathogenic/Likely pathogenic | Platelet-type bleeding disorder 10, Malaria, susceptibility to |