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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

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
246
Likely pathogenic
189
VUS
5,830
Likely benign
839
Benign
0

Patient phenotypes

Proportions of phenotypes among 427 patients carring pathogenic or likely pathogenic variants on CD36 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
29.7%
Abnormality of the nervous system
29.7%
Abnormality of the cardiovascular system
17.1%
Abnormality of the musculoskeletal system
16.4%
Abnormality of head or neck
14.3%
Abnormality of the ear
11.9%
Growth abnormality
9.4%
Abnormality of the genitourinary system
8.7%
Abnormality of the digestive system
6.3%
Abnormality of the integument
5.4%
Abnormality of the immune system
4.9%
Abnormality of blood and blood-forming tissues
4.7%
Abnormality of limbs
4%
Neoplasm
3.5%
Abnormality of the endocrine system
3.3%
Abnormality of the respiratory system
2.3%
Abnormality of prenatal development or birth
2.1%
Abnormal cellular phenotype
0.7%
Abnormality of the breast
0.7%
Constitutional symptom
0.5%
Abnormality of the voice
0.2%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%

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