APOB (apolipoprotein B)

2007-02-01  

Identity

HGNC
APOB
LOCATION
2p24.1
LOCUSID
338
ALIAS
FCHL2,FLDB,LDLCQ4,apoB-100,apoB-48
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

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
374102102024Mass-spectrometric analysis of APOB polymorphism rs1042031 (G/T) and its influence on serum proteome of coronary artery disease patients: genetic-derived proteomics consequences.0
375938492024Haplotype analysis and linkage disequilibrium of ApoB gene polymorphisms and its relationship with hyperlipidemia in patients with acne vulgaris.3
380422102024Association of APO B gene polymorphisms with the development of myocardial infarction in Pakistani population.0
381020602024The relationship between genetic liver fat and coronary heart disease is explained by apoB-containing lipoproteins.0
382921402024ApoA1, ApoB, ApoA1/B for Pathogenic Prediction of Chronic Obstructive Pulmonary Disease Complicated by Acute Lower Respiratory Tract Infection: A Cross-Sectional Study.0
384357502024Analysis of the association between testosterone and cardiovascular disease potential risk factor apolipoprotein B in adult males without cancer: national health and nutrition examination survey 2011-2016.0
388285962024Imbalance of APOB Lipoproteins and Large HDL in Type 1 Diabetes Drives Atherosclerosis.0
389501102024Apolipoprotein B: Bridging the Gap Between Evidence and Clinical Practice.0
374102102024Mass-spectrometric analysis of APOB polymorphism rs1042031 (G/T) and its influence on serum proteome of coronary artery disease patients: genetic-derived proteomics consequences.0
375938492024Haplotype analysis and linkage disequilibrium of ApoB gene polymorphisms and its relationship with hyperlipidemia in patients with acne vulgaris.3
380422102024Association of APO B gene polymorphisms with the development of myocardial infarction in Pakistani population.0
381020602024The relationship between genetic liver fat and coronary heart disease is explained by apoB-containing lipoproteins.0
382921402024ApoA1, ApoB, ApoA1/B for Pathogenic Prediction of Chronic Obstructive Pulmonary Disease Complicated by Acute Lower Respiratory Tract Infection: A Cross-Sectional Study.0
384357502024Analysis of the association between testosterone and cardiovascular disease potential risk factor apolipoprotein B in adult males without cancer: national health and nutrition examination survey 2011-2016.0
388285962024Imbalance of APOB Lipoproteins and Large HDL in Type 1 Diabetes Drives Atherosclerosis.0

Citation

Dessen P

APOB (apolipoprotein B)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46136