Gene: CD36

Alternate names for this Gene: BDPLT10|CHDS7|FAT|GP3B|GP4|GPIV|PASIV|SCARB3

Gene 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.

Gene is located in Chromosome: 7

Location in Chromosome : 7q21.11

Description of this Gene: CD36 molecule

Type of Gene: protein-coding

rs139761834 in CD36 gene and Aspartate aminotransferase measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs75326924 in CD36 gene and Blood Platelet Disorders PMID 7533783 1995 Molecular basis of CD36 deficiency. Evidence that a 478C-->T substitution (proline90-->serine) in CD36 cDNA accounts for CD36 deficiency.

PMID 15282206 2004 A common haplotype at the CD36 locus is associated with high free fatty acid levels and increased cardiovascular risk in Caucasians.

PMID 11019968 2000 Phenotype-genotype correlation in CD36 deficiency types I and II.

PMID 25798958 2015 Diverse CD36 expression among Japanese population: defective CD36 mutations cause platelet and monocyte CD36 reductions in not only deficient but also normal phenotype subjects.

PMID 24917573 2014 Free fatty acid uptake in humans with CD36 deficiency.

PMID 11718687 2001 Association of the Pro90Ser CD36 mutation with elevated free fatty acid concentrations but not with insulin resistance syndrome in Japanese.

PMID 11950861 2002 Identification of cryptic splice site, exon skipping, and novel point mutations in type I CD36 deficiency.

PMID 10946357 2000 Human CD36 deficiency is associated with elevation in low-density lipoprotein-cholesterol.

PMID 24960640 2014 Variants of CD36 gene and their association with CD36 protein expression in platelets.

rs11974777 in CD36 gene and Blood Protein Measurement PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

rs2366855 in CD36 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs7784820 in CD36 gene and Chronic Kidney Diseases PMID 21931561 2011 Genetic association for renal traits among participants of African ancestry reveals new loci for renal function.

rs139761834 in CD36 gene and Corpuscular Hemoglobin Concentration Mean PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs3173805 in CD36 gene and Finding of Mean Corpuscular Hemoglobin PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs3211938 in CD36 gene and High density lipoprotein measurement PMID 31217584 2019 Genetic analyses of diverse populations improves discovery for complex traits.

PMID 30275531 2018 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.

PMID 22629316 2012 Multi-ethnic analysis of lipid-associated loci: the NHLBI CARe project.

PMID 23236364 2012 Initial discovery and in silico follow-up in 7,000 additional African American samples, confirmed two novel loci: rs5030359 within ICAM1 is associated with total cholesterol (TC) and low-density lipoprotein cholesterol (LDL-C) (p = 8.8×10(-7) and p = 1.5×10(-6) respectively) and a nonsense mutation rs3211938 within CD36 is associated with high-density lipoprotein cholesterol (HDL-C) levels (p = 13.5×10(-12)).

rs799979 in CD36 gene and Impaired cognition PMID 26252872 2015 Variations in the FRA10AC1 Fragile Site and 15q21 Are Associated with Cerebrospinal Fluid Aβ1-42 Level.

rs11574728 in CD36 gene and Low density lipoprotein cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs112908525 in CD36 gene and Mean Corpuscular Volume (result) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs13236689 in CD36 gene and Platelet Count measurement PMID 22423221 2012 The novel genetic variants associated with platelet count were in the following regions (the most significant SNP, closest gene, and p-value): 6p22 (rs12526480, LRRC16A, p = 9.1×10(-9)), 7q11 (rs13236689, CD36, p = 2.8×10(-9)), 10q21 (rs7896518, JMJD1C, p = 2.3×10(-12)), 11q13 (rs477895, BAD, p = 4.9×10(-8)), and 20q13 (rs151361, SLMO2, p = 9.4×10(-9)).

PMID 31217584 2019 Genetic analyses of diverse populations improves discovery for complex traits.

PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs121918035 in CD36 gene and Platelet Glycoprotein IV Deficiency PMID 7533783 1995 Molecular basis of CD36 deficiency. Evidence that a 478C-->T substitution (proline90-->serine) in CD36 cDNA accounts for CD36 deficiency.

PMID 11950861 2002 Identification of cryptic splice site, exon skipping, and novel point mutations in type I CD36 deficiency.

PMID 23966019 2013 Studies on CD36 deficiency in South China: Two cases demonstrating the clinical impact of anti-CD36 antibodies.

PMID 25330908 2015 Incidence and molecular basis of CD36 deficiency in Shanghai population.

PMID 16493488 2006 Two sibling cases of hydrops fetalis due to alloimmune anti-CD36 (Nak a) antibody.

PMID 25798958 2015 Diverse CD36 expression among Japanese population: defective CD36 mutations cause platelet and monocyte CD36 reductions in not only deficient but also normal phenotype subjects.

PMID 11499670 2001 Analyses of genetic abnormalities in type I CD36 deficiency in Japan: identification and cell biological characterization of two novel mutations that cause CD36 deficiency in man.

PMID 11352982 2001 Defect in human myocardial long-chain fatty acid uptake is caused by FAT/CD36 mutations.

PMID 26528880 2016 Genetic variations of CD36 and low platelet CD36 expression - a risk factor for lipemic plasma donation in Taiwanese apheresis donors.

PMID 10946357 2000 Human CD36 deficiency is associated with elevation in low-density lipoprotein-cholesterol.

PMID 7515716 1994 Identification of molecular defects in a subject with type I CD36 deficiency.

PMID 12971464 2002 Polymorphisms of CD36 in Thai malaria patients.

PMID 8696942 1996 A single nucleotide insertion in codon 317 of the CD36 gene leads to CD36 deficiency.

PMID 7533783 1995 Molecular basis of CD36 deficiency. Evidence that a 478C-->T substitution (proline90-->serine) in CD36 cDNA accounts for CD36 deficiency.

PMID 7686693 1993 A novel polymorphism in glycoprotein IV (replacement of proline-90 by serine) predominates in subjects with platelet GPIV deficiency.

PMID 11019968 2000 Phenotype-genotype correlation in CD36 deficiency types I and II.

rs11764390 in CD36 gene and Platelet mean volume determination (procedure) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 22423221 2012 A meta-analysis and genome-wide association study of platelet count and mean platelet volume in african americans.

rs112908525 in CD36 gene and RDW - Red blood cell distribution width result PMID 28957414 2017 Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs144658219 in CD36 gene and Red Blood Cell Count measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs112908525 in CD36 gene and Red cell distribution width determination PMID 28957414 2017 Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs3211938 in CD36 gene and Serum HDL cholesterol measurement PMID 22629316 2012 Multi-ethnic analysis of lipid-associated loci: the NHLBI CARe project.

PMID 23236364 2012 Gene-centric meta-analysis of lipid traits in African, East Asian and Hispanic populations.

rs11574728 in CD36 gene and Serum LDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs3211935 in CD36 gene and Serum total cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs11574728 in CD36 gene and Triglycerides measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs11574703 in CD36 gene and response to fenofibrate PMID 22890011 2012 Genome-wide association study indicates variants associated with insulin signaling and inflammation mediate lipoprotein responses to fenofibrate.