Version: 8.0.0Date: Tue Jan 28 2025
Gene
APOB
- Species
- Homo sapiens
- Symbol
- APOB
- Name
- apolipoprotein B
- Synonyms
- apo B-100
- apoB-100
- Biotype
- protein coding gene
- Automated Description
- Enables several functions, including cholesterol transfer activity; heparin binding activity; and signaling receptor binding activity. Involved in several processes, including cholesterol homeostasis; low-density lipoprotein particle clearance; and low-density lipoprotein particle remodeling. Located in cytosol; endoplasmic reticulum exit site; and neuronal cell body. Part of low-density lipoprotein particle; mature chylomicron; and triglyceride-rich plasma lipoprotein particle. Is active in extracellular space. Implicated in several diseases, including artery disease (multiple); biliary tract cancer (multiple); familial hyperlipidemia (multiple); hypobetalipoproteinemia (multiple); and sickle cell anemia. Biomarker of several diseases, including common bile duct neoplasm; diabetes mellitus (multiple); familial combined hyperlipidemia; hypobetalipoproteinemia; and obesity.
- RGD Description
- 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]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR13769
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Phenotypes
- Primary Sources
- None
- Other Sources
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Disease Associations
Cases where the expected disease association was NOT found
Cell color indicative of annotation volume
No data available
Alleles and Variants
Allele/Variant Symbol | Allele Synonyms | Category | Variant | Variant type | Molecular consequence | Has Disease Annotations | Has Phenotype Annotations |
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Transgenic Alleles
Species (carrying the transgene) | Allele symbol | Transgenic construct | Expressed components | Knock-down targets | Regulatory regions | Has Disease Annotations | Has Phenotype Annotations |
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Models
Model name | Experimental condition | Associated Human Diseases | Associated Phenotypes | Modifier | Source |
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Sequence Feature Viewer
- Genome location
- Chr2:21001429...21044073 - (42.64 kb)
- Assembly version
- GRCh38
- Viewer Help
Data currently unavailable; sequence viewer under construction
Expression
- Primary Sources
- None
- Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.