CD36

Chr 7AR

CD36 molecule (CD36 blood group)

Also known as: BDPLT10, CHDS7, FAT, GP3B, GP4, GPIV, PASIV, SCARB3

NCBI Gene: 948 ENSG00000135218 UniProt: P16671

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]

Primary Disease Associations & Inheritance

{Coronary heart disease, susceptibility to, 7}MIM #610938

{Malaria, cerebral, reduced risk of}MIM #611162

{Malaria, cerebral, susceptibility to}MIM #611162

Platelet glycoprotein IV deficiencyMIM #608404

339

ClinVar variants

Pathogenic / LP

0.00

pLI score

Active trials

Clinical Summary— CD36

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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ClinVar Variants

84 Pathogenic / Likely Pathogenic· 185 VUS of 339 total submissions

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Clinical Trials

4 active or recruiting trials — potential therapeutic options may be available

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.

2.00LOEUF

pLI 0.000

Z-score -8.15

OE 2.82 (1.77–2.00)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.

-4.28Z-score

OE missense 1.77 (1.63–1.91)

437 obs / 247.5 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.

LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.2.82 (1.77–2.00)

0≤0.351.4

Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.1.77 (1.63–1.91)

0≤0.61.4

Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.11

0≤1.21.6

LoF obs/exp: 66 / 23.4Missense obs/exp: 437 / 247.5Syn Z: -0.83