CD36
CD36 molecule, the group of CD molecules|Scavenger receptors
Basic information
Region (hg38): 7:80369575-80679277
Links
Phenotypes
GenCC
Source:
- platelet-type bleeding disorder 10 (Strong), mode of inheritance: AR
- platelet-type bleeding disorder 10 (Strong), mode of inheritance: AR
Clinical Genomic Database
Source:
| Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
|---|---|---|---|---|---|
| Platelet glycoprotein IV deficiency | AR | Hematologic | Platelet glycoprotein IV deficiency has been reported with refractoriness to HLA-matched platelet transfusion, and may act as a susceptibility factor for hypertrophic cardiomyopathy and other cardiovascular-related parameters | Hematologic | 2617957; 10946357; 11247555; 15973412; 17668374; 17412877 |
ClinVar
This is a list of variants' phenotypes submitted to
- Platelet-type bleeding disorder 10 (4 variants)
- not provided (3 variants)
- CD36-related disorder (1 variants)
- Platelet-type bleeding disorder 10;Coronary heart disease, susceptibility to, 7;Malaria, susceptibility to (1 variants)
- See cases (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the CD36 gene is commonly pathogenic or not.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
| Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
|---|---|---|---|---|---|---|
| synonymous | 10 | |||||
| missense | 62 | 66 | ||||
| nonsense | 7 | |||||
| start loss | 0 | |||||
| frameshift | 13 | 25 | ||||
| inframe indel | 4 | |||||
| splice donor/acceptor (+/-2bp) | 11 | |||||
| splice region | 4 | 1 | 2 | 7 | ||
| non coding | 22 | 22 | 46 | |||
| Total | 9 | 26 | 101 | 9 | 24 |
Highest pathogenic variant AF is 0.000440
Variants in CD36
This is a list of pathogenic ClinVar variants found in the CD36 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 7-80458676-A-C | not specified | Uncertain significance (Jul 14, 2021) | ||
| 7-80458698-C-G | not specified | Uncertain significance (Dec 18, 2023) | ||
| 7-80458742-C-T | not specified | Uncertain significance (Jan 07, 2022) | ||
| 7-80458807-A-C | not specified | Uncertain significance (Jun 28, 2023) | ||
| 7-80458810-T-C | not specified | Uncertain significance (Jan 09, 2024) | ||
| 7-80458838-C-T | not specified | Uncertain significance (Oct 14, 2021) | ||
| 7-80462205-T-G | not specified | Uncertain significance (Oct 27, 2023) | ||
| 7-80462248-G-A | not specified | Uncertain significance (Jan 04, 2024) | ||
| 7-80462257-A-G | not specified | Uncertain significance (Apr 18, 2023) | ||
| 7-80462510-C-T | not specified | Uncertain significance (Nov 18, 2022) | ||
| 7-80462526-C-A | not specified | Uncertain significance (Oct 25, 2022) | ||
| 7-80474259-C-A | not specified | Uncertain significance (Dec 03, 2021) | ||
| 7-80474332-T-C | not specified | Uncertain significance (Jul 25, 2023) | ||
| 7-80474333-T-C | not specified | Uncertain significance (Feb 12, 2024) | ||
| 7-80478905-C-T | not specified | Uncertain significance (Jul 06, 2021) | ||
| 7-80488539-C-A | not specified | Uncertain significance (Feb 10, 2023) | ||
| 7-80488590-G-A | not specified | Uncertain significance (Apr 15, 2022) | ||
| 7-80488590-G-C | not specified | Uncertain significance (Apr 08, 2024) | ||
| 7-80488617-T-G | not specified | Uncertain significance (Mar 21, 2022) | ||
| 7-80488647-T-G | not specified | Uncertain significance (Feb 27, 2024) | ||
| 7-80494626-C-G | not specified | Uncertain significance (Feb 28, 2023) | ||
| 7-80511814-A-T | not specified | Uncertain significance (Dec 15, 2023) | ||
| 7-80511883-C-A | not specified | Uncertain significance (Jun 02, 2023) | ||
| 7-80511900-G-C | not specified | Uncertain significance (Oct 22, 2021) | ||
| 7-80602188-G-C | Platelet-type bleeding disorder 10 | Benign (Jan 13, 2018) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| CD36 | protein_coding | protein_coding | ENST00000435819 | 12 | 309703 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 1.09e-60 | 5.63e-17 | 121618 | 111 | 4014 | 125743 | 0.0165 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | -4.28 | 437 | 247 | 1.77 | 0.0000119 | 3093 |
| Missense in Polyphen | 189 | 79.756 | 2.3697 | 1035 | ||
| Synonymous | -0.828 | 100 | 90.0 | 1.11 | 0.00000469 | 887 |
| Loss of Function | -8.15 | 66 | 23.4 | 2.82 | 9.88e-7 | 311 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.187 | 0.182 |
| Ashkenazi Jewish | 0.00407 | 0.00398 |
| East Asian | 0.0233 | 0.0233 |
| Finnish | 0.000231 | 0.000231 |
| European (Non-Finnish) | 0.00414 | 0.00407 |
| Middle Eastern | 0.0233 | 0.0233 |
| South Asian | 0.00739 | 0.00724 |
| Other | 0.0121 | 0.0118 |
dbNSFP
Source:
- Function
- FUNCTION: Multifunctional glycoprotein that acts as receptor for a broad range of ligands. Ligands can be of proteinaceous nature like thrombospondin, fibronectin, collagen or amyloid-beta as well as of lipidic nature such as oxidized low-density lipoprotein (oxLDL), anionic phospholipids, long-chain fatty acids and bacterial diacylated lipopeptides. They are generally multivalent and can therefore engage multiple receptors simultaneously, the resulting formation of CD36 clusters initiates signal transduction and internalization of receptor-ligand complexes. The dependency on coreceptor signaling is strongly ligand specific. Cellular responses to these ligands are involved in angiogenesis, inflammatory response, fatty acid metabolism, taste and dietary fat processing in the intestine (Probable). Binds long-chain fatty acids and facilitates their transport into cells, thus participating in muscle lipid utilization, adipose energy storage, and gut fat absorption (By similarity) (PubMed:18353783, PubMed:21610069). In the small intestine, plays a role in proximal absorption of dietary fatty acid and cholesterol for optimal chylomicron formation, possibly through the activation of MAPK1/3 (ERK1/2) signaling pathway (By similarity) (PubMed:18753675). Involved in oral fat perception and preferences (PubMed:22240721, PubMed:25822988). Detection into the tongue of long-chain fatty acids leads to a rapid and sustained rise in flux and protein content of pancreatobiliary secretions (By similarity). In taste receptor cells, mediates the induction of an increase in intracellular calcium levels by long-chain fatty acids, leading to the activation of the gustatory neurons in the nucleus of the solitary tract (By similarity). Important factor in both ventromedial hypothalamus neuronal sensing of long-chain fatty acid and the regulation of energy and glucose homeostasis (By similarity). Receptor for thombospondins, THBS1 and THBS2, mediating their antiangiogenic effects (By similarity). As a coreceptor for TLR4:TLR6 heterodimer, promotes inflammation in monocytes/macrophages. Upon ligand binding, such as oxLDL or amyloid-beta 42, interacts with the heterodimer TLR4:TLR6, the complex is internalized and triggers inflammatory response, leading to NF-kappa-B-dependent production of CXCL1, CXCL2 and CCL9 cytokines, via MYD88 signaling pathway, and CCL5 cytokine, via TICAM1 signaling pathway, as well as IL1B secretion, through the priming and activation of the NLRP3 inflammasome (By similarity) (PubMed:20037584). Selective and nonredundant sensor of microbial diacylated lipopeptide that signal via TLR2:TLR6 heterodimer, this cluster triggers signaling from the cell surface, leading to the NF-kappa-B-dependent production of TNF, via MYD88 signaling pathway and subsequently is targeted to the Golgi in a lipid-raft dependent pathway (By similarity) (PubMed:16880211). {ECO:0000250|UniProtKB:Q07969, ECO:0000250|UniProtKB:Q08857, ECO:0000269|PubMed:16880211, ECO:0000269|PubMed:18353783, ECO:0000269|PubMed:18753675, ECO:0000269|PubMed:20037584, ECO:0000269|PubMed:21610069, ECO:0000269|PubMed:22240721, ECO:0000269|PubMed:25822988, ECO:0000305|PubMed:19471024}.;
- Disease
- DISEASE: Platelet glycoprotein IV deficiency (PG4D) [MIM:608404]: A disorder characterized by macrothrombocytopenia without notable hemostatic problems and bleeding tendency. Platelet glycoprotein IV deficiency can be divided into 2 subgroups. The type I phenotype is characterized by platelets and monocytes/macrophages exhibiting complete CD36 deficiency. The type II phenotype lacks the surface expression of CD36 in platelets, but expression in monocytes/macrophages is near normal. {ECO:0000269|PubMed:11950861, ECO:0000269|PubMed:7533783}. Note=The disease is caused by mutations affecting the gene represented in this entry. Patients also have postprandial hypertriglyceridemia, insulin resistance and hypertension increasing atherosclerotic risk. {ECO:0000269|PubMed:18753675}.; DISEASE: Coronary heart disease 7 (CHDS7) [MIM:610938]: A multifactorial disease characterized by an imbalance between myocardial functional requirements and the capacity of the coronary vessels to supply sufficient blood flow. Decreased capacity of the coronary vessels is often associated with thickening and loss of elasticity of the coronary arteries. {ECO:0000269|PubMed:15282206}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.;
- Pathway
- ECM-receptor interaction - Homo sapiens (human);Adipocytokine signaling pathway - Homo sapiens (human);Insulin resistance - Homo sapiens (human);Fat digestion and absorption - Homo sapiens (human);Phagosome - Homo sapiens (human);Malaria - Homo sapiens (human);AMPK signaling pathway - Homo sapiens (human);Cholesterol metabolism - Homo sapiens (human);PPAR signaling pathway - Homo sapiens (human);Hematopoietic cell lineage - Homo sapiens (human);Platelet Aggregation Inhibitor Pathway, Pharmacodynamics;Transcriptional regulation of white adipocyte differentiation;Aryl Hydrocarbon Receptor;Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha);PPAR signaling pathway;Liver steatosis AOP;Interleukin-4 and 13 signaling;Vitamin A and Carotenoid Metabolism;Neutrophil degranulation;Vesicle-mediated transport;tsp-1 induced apoptosis in microvascular endothelial cell;Toll-Like Receptors Cascades;Innate Immune System;Immune System;Adaptive Immune System;Antigen processing-Cross presentation;Class I MHC mediated antigen processing & presentation;Platelet degranulation ;Response to elevated platelet cytosolic Ca2+;Platelet activation, signaling and aggregation;Hemostasis;Regulation of TLR by endogenous ligand;Cross-presentation of particulate exogenous antigens (phagosomes);ER-Phagosome pathway;Toll Like Receptor 4 (TLR4) Cascade;Scavenging by Class B Receptors;Binding and Uptake of Ligands by Scavenger Receptors;MyD88:Mal cascade initiated on plasma membrane;Toll Like Receptor TLR1:TLR2 Cascade;Toll Like Receptor TLR6:TLR2 Cascade;Toll Like Receptor 2 (TLR2) Cascade
(Consensus)
Intolerance Scores
- loftool
- 0.614
- rvis_EVS
- -1.7
- rvis_percentile_EVS
- 2.55
Haploinsufficiency Scores
- pHI
- 0.884
- hipred
- N
- hipred_score
- 0.437
- ghis
- 0.567
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.685
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Cd36
- Phenotype
- cellular phenotype; homeostasis/metabolism phenotype; muscle phenotype; growth/size/body region phenotype; endocrine/exocrine gland phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); taste/olfaction phenotype; liver/biliary system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); immune system phenotype; skeleton phenotype; renal/urinary system phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); digestive/alimentary phenotype; vision/eye phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); hematopoietic system phenotype;
Gene ontology
- Biological process
- negative regulation of transcription by RNA polymerase II;positive regulation of cell-matrix adhesion;toll-like receptor signaling pathway;antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent;production of molecular mediator involved in inflammatory response;platelet degranulation;MyD88-dependent toll-like receptor signaling pathway;lipid metabolic process;fatty acid metabolic process;receptor-mediated endocytosis;phagocytosis, recognition;phagocytosis, engulfment;cell adhesion;positive regulation of cytosolic calcium ion concentration;nitric oxide mediated signal transduction;blood coagulation;positive regulation of gene expression;positive regulation of macrophage derived foam cell differentiation;positive regulation of cholesterol storage;positive regulation of cell death;regulation of lipid metabolic process;cytokine-mediated signaling pathway;lipid storage;cGMP-mediated signaling;positive regulation of blood coagulation;intestinal cholesterol absorption;cholesterol transport;receptor internalization;regulation of lipopolysaccharide-mediated signaling pathway;positive regulation of interleukin-12 production;positive regulation of interleukin-6 production;positive regulation of tumor necrosis factor production;response to lipid;regulation of toll-like receptor signaling pathway;triglyceride transport;plasma lipoprotein particle clearance;low-density lipoprotein particle clearance;response to stilbenoid;toll-like receptor TLR6:TLR2 signaling pathway;negative regulation of protein import into nucleus;lipoprotein transport;positive regulation of I-kappaB kinase/NF-kappaB signaling;apoptotic cell clearance;neutrophil degranulation;regulation of protein heterodimerization activity;negative regulation of growth of symbiont in host;long-chain fatty acid import;positive regulation of nitric oxide biosynthetic process;interleukin-1 beta secretion;positive regulation of peptidyl-tyrosine phosphorylation;defense response to Gram-positive bacterium;intestinal absorption;sensory perception of taste;positive regulation of NF-kappaB transcription factor activity;low-density lipoprotein particle mediated signaling;positive regulation of phagocytosis, engulfment;positive regulation of macrophage cytokine production;positive regulation of ERK1 and ERK2 cascade;cholesterol import;response to fatty acid;response to linoleic acid;cellular response to lipopolysaccharide;cellular response to lipoteichoic acid;cellular response to low-density lipoprotein particle stimulus;cellular response to hydroperoxide;cellular response to diacyl bacterial lipopeptide;energy homeostasis;regulation of action potential;positive regulation of cold-induced thermogenesis;cellular response to oxidised low-density lipoprotein particle stimulus;oxidised low-density lipoprotein particle clearance;positive regulation of NLRP3 inflammasome complex assembly;positive regulation of reactive oxygen species biosynthetic process;cellular response to amyloid-beta;amyloid fibril formation;regulation of removal of superoxide radicals;positive regulation of blood microparticle formation
- Cellular component
- extracellular space;Golgi apparatus;plasma membrane;integral component of plasma membrane;external side of plasma membrane;cell surface;membrane;apical plasma membrane;endocytic vesicle membrane;platelet alpha granule membrane;brush border membrane;specific granule membrane;receptor complex;membrane raft;phagocytic vesicle
- Molecular function
- amyloid-beta binding;low-density lipoprotein particle receptor activity;scavenger receptor activity;protein binding;high-density lipoprotein particle binding;lipid binding;low-density lipoprotein particle binding;Toll-like receptor binding;transforming growth factor beta binding;thrombospondin receptor activity;lipoteichoic acid receptor activity;lipoprotein particle binding;oxidised low-density lipoprotein particle receptor activity