Harmonizome 3.0

apolipoprotein B

This gene product is the main apolipoprotein of chylomicrons and low density lipoproteins (LDL), and is the ligand for the LDL receptor. It occurs in plasma as two main isoforms, apoB-48 and apoB-100: the former is synthesized exclusively in the gut and the latter in the liver. The intestinal and the hepatic forms of apoB are encoded by a single gene from a single, very long mRNA. The two isoforms share a common N-terminal sequence. The shorter apoB-48 protein is produced after RNA editing of the apoB-100 transcript at residue 2180 (CAA->UAA), resulting in the creation of a stop codon, and early translation termination. Mutations in this gene or its regulatory region cause hypobetalipoproteinemia, normotriglyceridemic hypobetalipoproteinemia, and hypercholesterolemia due to ligand-defective apoB, diseases affecting plasma cholesterol and apoB levels. [provided by RefSeq, Dec 2019]

From GAD Gene-Disease Associations

genes associated with the disease apob-48 in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease cholesterol, hdl; cholesterol, ldl; cholesterol, total; apoa1; apoe; apob-100 in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease body mass; cholesterol, ldl; cholesterol, total; insulin; apob in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease triglycerides; cholesterol, total; apoa1; apob; apoe in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease plasma apob and low density lipoprotein (ldl) cholesterol levels in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease insulin; apob; apoc-iii in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease cholesterol, hdl; cholesterol, ldl; apoa1; apob in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease cholesterol, ldl; cholesterol, total; apob; apoai in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease triglycerides; insulin; lipoproteins; apob; apoc-iii in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease cholesterol, ldl; cholesterol, total; c-reactive protein; apoa2; apob in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease cholesterol; cholesterol, ldl; insulin; apob in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term apob in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

From Pathway Commons Protein-Protein Interactions

interacting proteins for APOB from the Pathway Commons Protein-Protein Interactions dataset.

From LINCS L1000 CMAP CRISPR Knockout Consensus Signatures

genes differentially expressed following the APOB gene perturbation from the LINCS L1000 CMAP CRISPR Knockout Consensus Signatures dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the APOB POLYMORPHISM IN SIGNAL PEPT phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.