APOB (apolipoprotein B)

2007-02-01  

Identity

HGNC
LOCATION
2p24.1
LOCUSID
ALIAS
FCHL2,FLDB,LDLCQ4,apoB-100,apoB-48
FUSION GENES

Other Information

Locus ID:

NCBI: 338
MIM: 107730
HGNC: 603
Ensembl: ENSG00000084674

Variants:

dbSNP: 338
ClinVar: 338
TCGA: ENSG00000084674
COSMIC: APOB

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000084674ENST00000233242P04114
ENSG00000084674ENST00000399256A8MUN2

Expression (GTEx)

0
50
100
150
200
250
300
350

Pathways

PathwaySourceExternal ID
Fat digestion and absorptionKEGGko04975
Fat digestion and absorptionKEGGhsa04975
Vitamin digestion and absorptionKEGGko04977
Vitamin digestion and absorptionKEGGhsa04977
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Toll-Like Receptors CascadesREACTOMER-HSA-168898
HemostasisREACTOMER-HSA-109582
Platelet homeostasisREACTOMER-HSA-418346
Platelet sensitization by LDLREACTOMER-HSA-432142
Cell surface interactions at the vascular wallREACTOMER-HSA-202733
Signal TransductionREACTOMER-HSA-162582
Visual phototransductionREACTOMER-HSA-2187338
Retinoid metabolism and transportREACTOMER-HSA-975634
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
Binding and Uptake of Ligands by Scavenger ReceptorsREACTOMER-HSA-2173782
Scavenging by Class A ReceptorsREACTOMER-HSA-3000480
Scavenging by Class B ReceptorsREACTOMER-HSA-3000471
Scavenging by Class F ReceptorsREACTOMER-HSA-3000484
Scavenging by Class H ReceptorsREACTOMER-HSA-3000497
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Lipid digestion, mobilization, and transportREACTOMER-HSA-73923
Lipoprotein metabolismREACTOMER-HSA-174824
Chylomicron-mediated lipid transportREACTOMER-HSA-174800
LDL-mediated lipid transportREACTOMER-HSA-171052
Metabolism of vitamins and cofactorsREACTOMER-HSA-196854
Metabolism of fat-soluble vitaminsREACTOMER-HSA-6806667
VLDL interactionsREACTOMER-HSA-8855121
VLDL biosynthesisREACTOMER-HSA-8866423
Regulation of TLR by endogenous ligandREACTOMER-HSA-5686938
Clathrin-mediated endocytosisREACTOMER-HSA-8856828
Cargo recognition for clathrin-mediated endocytosisREACTOMER-HSA-8856825

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA164742099MTTPGenePathwayassociated
PA166114922lomitapideChemicalLabelAnnotationassociated
PA166114942familial hypercholesterolemiaDiseaseDataAnnotation, Literature, MultilinkAnnotationassociated23788249
PA166123431heart valve replacementDiseaseClinicalAnnotationassociatedPD
PA227LDLRGeneDataAnnotationassociated
PA38617PCSK9GeneDataAnnotationassociated
PA444417HemorrhageDiseaseClinicalAnnotationassociatedPD
PA444552HypertensionDiseaseClinicalAnnotationassociatedPKPD
PA446120HypertriglyceridemiaDiseaseClinicalAnnotationassociatedPD
PA446479Hypertrophy, Left VentricularDiseaseClinicalAnnotationassociatedPD15614026
PA449594fenofibrateChemicalClinicalAnnotationassociatedPD
PA450084irbesartanChemicalClinicalAnnotationassociatedPKPD15614026
PA451906warfarinChemicalClinicalAnnotationassociatedPD

References

Pubmed IDYearTitleCitations
181930432008Newly identified loci that influence lipid concentrations and risk of coronary artery disease.690
183541022008Polymorphisms associated with cholesterol and risk of cardiovascular events.250
206575962010Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia.199
208646722010Genetic variants influencing circulating lipid levels and risk of coronary artery disease.180
153218372004Genetic causes of monogenic heterozygous familial hypercholesterolemia: a HuGE prevalence review.95
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
125477002003Apolipoprotein B in cholesterol-containing drusen and basal deposits of human eyes with age-related maculopathy.82
227511032012Hepatic sortilin regulates both apolipoprotein B secretion and LDL catabolism.75
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
198023382008Genetic loci associated with plasma concentration of low-density lipoprotein cholesterol, high-density lipoprotein cholesterol, triglycerides, apolipoprotein A1, and Apolipoprotein B among 6382 white women in genome-wide analysis with replication.60

Citation

Dessen P

APOB (apolipoprotein B)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46136/apob-(apolipoprotein-b)