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CD36

Synonyms
BDPLT10, CHDS7, FAT, GP3B, GP4, GPIV, PASIV, SCARB3
External resources
Summary
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.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
494
Likely pathogenic
380
VUS
3,972
Likely benign
2,889
Benign
0

Patient phenotypes

Proportions of phenotypes among 852 patients carrying pathogenic or likely pathogenic variants on CD36 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
31.8%
Abnormality of the eye
22.3%
Abnormality of the cardiovascular system
18.9%
Abnormality of the musculoskeletal system
18.1%
Abnormality of head or neck
14%
Abnormality of the genitourinary system
9.9%
Abnormality of the ear
9.7%
Growth abnormality
8.9%
Abnormality of the digestive system
7.9%
Abnormality of the integument
7.9%
Abnormality of the immune system
6.3%
Abnormality of the endocrine system
6.2%
Abnormality of limbs
5.8%
Abnormality of blood and blood-forming tissues
5.4%
Neoplasm
4.2%
Abnormality of prenatal development or birth
1.8%
Abnormality of the respiratory system
1.8%
Abnormal cellular phenotype
0.8%
Abnormality of the breast
0.7%
Constitutional symptom
0.7%
Abnormality of the voice
0.1%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%

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