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Aliases for APOB Gene

Aliases for APOB Gene

  • Apolipoprotein B 2 3 5
  • Apolipoprotein B (Including Ag(X) Antigen) 2 3
  • Apolipoprotein B-100 3
  • Apolipoprotein B48 3
  • Apo B-100 4
  • ApoB-100 3
  • ApoB-48 3
  • LDLCQ4 3
  • FLDB 3

External Ids for APOB Gene

Previous GeneCards Identifiers for APOB Gene

  • GC02M021130
  • GC02M021317
  • GC02M021198
  • GC02M021135

Summaries for APOB Gene

Entrez Gene Summary for APOB Gene

  • This gene product is the main apolipoprotein of chylomicrons and low density lipoproteins. 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, Jul 2008]

GeneCards Summary for APOB Gene

APOB (Apolipoprotein B) is a Protein Coding gene. Diseases associated with APOB include Hypobetalipoproteinemia, Familial, 1 and Hypercholesterolemia, Autosomal Dominant, Type B. Among its related pathways are Lipoprotein metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include binding and heparin binding.

UniProtKB/Swiss-Prot for APOB Gene

  • Apolipoprotein B is a major protein constituent of chylomicrons (apo B-48), LDL (apo B-100) and VLDL (apo B-100). Apo B-100 functions as a recognition signal for the cellular binding and internalization of LDL particles by the apoB/E receptor.

Gene Wiki entry for APOB Gene

Additional gene information for APOB Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for APOB Gene

Genomics for APOB Gene

GeneHancer (GH) Regulatory Elements for APOB Gene

Promoters and enhancers for APOB Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J021042 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE 668.3 +0.7 733 2.6 FOXA2 MLX ZFP64 ARID4B DMAP1 YY1 SLC30A9 ZNF143 PAF1 SP5 APOB GC02M021043 GC02M021044 LAPTM4A ENSG00000280390
GH02J021069 Enhancer 1 ENCODE 26.9 -26.6 -26597 2.2 FOXA2 MLX ZFP64 ARID4B DMAP1 ZNF48 YY1 SLC30A9 FOS NFKBIZ APOB GC02M021043 TDRD15
GH02J021095 Enhancer 0.9 ENCODE 25.5 -53.6 -53568 4.9 FOXA2 MLX ZSCAN9 RAD21 YY1 EGR1 CREM MIXL1 RXRA SP5 APOB TDRD15 GC02M021043
GH02J021038 Enhancer 0.7 ENCODE 31.4 +4.9 4934 1.3 MYRF SOX13 IRF2 AHR FOXA2 SAP130 KAT7 MAX RBPJ ZSCAN9 APOB GC02M021044 ENSG00000280390
GH02J021046 Enhancer 0.9 ENCODE 17.6 -3.2 -3179 2.2 FOXA2 MLX ARID4B DMAP1 YY1 ATF7 NFKBIZ RXRA MIER2 REST APOB GC02M021043 TDRD15
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around APOB on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the APOB gene promoter:
  • NF-1
  • RORalpha1
  • Max1
  • c-Myc
  • FOXD1
  • MEF-2A
  • aMEF-2
  • POU2F1
  • POU2F1a
  • GR-alpha

Genomic Locations for APOB Gene

Genomic Locations for APOB Gene
44,856 bases
Minus strand
42,645 bases
Minus strand

Genomic View for APOB Gene

Genes around APOB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
APOB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for APOB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for APOB Gene

Proteins for APOB Gene

  • Protein details for APOB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Apolipoprotein B-100
    Protein Accession:
    Secondary Accessions:
    • O00502
    • P78479
    • P78480
    • P78481
    • Q13779
    • Q13785
    • Q13786
    • Q13787
    • Q13788
    • Q4ZG63
    • Q53QC8
    • Q7Z600
    • Q9UMN0

    Protein attributes for APOB Gene

    4563 amino acids
    Molecular mass:
    515605 Da
    Quaternary structure:
    • Interacts with PCSK9 (PubMed:22580899). Interacts with MTTP (PubMed:26224785, PubMed:27206948).
    • Sequence=AAA51752.1; Type=Frameshift; Positions=942, 951, 1139, 1165, 1164, 1371, 1385; Evidence={ECO:0000305};

neXtProt entry for APOB Gene

Post-translational modifications for APOB Gene

  • Palmitoylated; structural requirement for proper assembly of the hydrophobic core of the lipoprotein particle.
  • Glycosylation at Asn4431, posLast=42374237, posLast=38953895, Asn3465, Asn3411, posLast=33583358, posLast=33363336, posLast=32243224, posLast=32203220, Asn3101, posLast=29822982, posLast=27792779, posLast=25602560, Asn2239, Asn1523, posLast=13771377, Asn1368, Asn983, Asn185, and Asn34
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • APOB_HUMAN (57)

Other Protein References for APOB Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for APOB Gene

Domains & Families for APOB Gene

Gene Families for APOB Gene

Human Protein Atlas (HPA):
  • Candidate cardiovascular disease genes
  • Disease related genes
  • Plasma proteins
  • Predicted secreted proteins

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with APOB: view

No data available for UniProtKB/Swiss-Prot for APOB Gene

Function for APOB Gene

Molecular function for APOB Gene

UniProtKB/Swiss-Prot Function:
Apolipoprotein B is a major protein constituent of chylomicrons (apo B-48), LDL (apo B-100) and VLDL (apo B-100). Apo B-100 functions as a recognition signal for the cellular binding and internalization of LDL particles by the apoB/E receptor.
UniProtKB/Swiss-Prot Induction:
Up-regulated in response to enterovirus 71 (EV71) infection (at protein level).
GENATLAS Biochemistry:
apolipoprotein B (including Ag(x) antigen),major component of chylomicrons,VLDL,LDL with two forms B100 and B48 (intestine),3MARs,likely functioning as an insulator element,conferring high level and position independent expression of ApoB,flanked by sequences binding to nuclear matrix between nuclear sensitive and resitant chromatin

Phenotypes From GWAS Catalog for APOB Gene

Gene Ontology (GO) - Molecular Function for APOB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005319 lipid transporter activity IEA --
GO:0005488 binding IEA --
GO:0005515 protein binding IPI 8245722
GO:0005543 phospholipid binding IDA 7126555
GO:0008201 heparin binding IDA 16233946
genes like me logo Genes that share ontologies with APOB: view
genes like me logo Genes that share phenotypes with APOB: view

Human Phenotype Ontology for APOB Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for APOB Gene

MGI Knock Outs for APOB:

Animal Model Products

  • Taconic Biosciences Mouse Models for APOB

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for APOB Gene

Localization for APOB Gene

Subcellular locations from UniProtKB/Swiss-Prot for APOB Gene

Cytoplasm. Secreted.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for APOB gene
Compartment Confidence
plasma membrane 5
extracellular 5
endoplasmic reticulum 5
cytosol 5
lysosome 5
endosome 5
golgi apparatus 3
cytoskeleton 2
peroxisome 2
nucleus 2
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for APOB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IDA,TAS --
GO:0005615 extracellular space ISS,IEA 22261194
GO:0005737 cytoplasm IEA,IDA 22580899
GO:0005769 early endosome TAS --
GO:0005783 endoplasmic reticulum IEA --
genes like me logo Genes that share ontologies with APOB: view

Pathways & Interactions for APOB Gene

genes like me logo Genes that share pathways with APOB: view

SIGNOR curated interactions for APOB Gene


Gene Ontology (GO) - Biological Process for APOB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001523 retinoid metabolic process TAS --
GO:0001701 in utero embryonic development IEA --
GO:0002224 toll-like receptor signaling pathway TAS --
GO:0006629 lipid metabolic process IEA --
GO:0006642 triglyceride mobilization IEA --
genes like me logo Genes that share ontologies with APOB: view

Drugs & Compounds for APOB Gene

(78) Drugs for APOB Gene - From: PharmGKB, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ezetimibe Approved Pharma Cholesterol transport inhibitor 286
Fenofibrate Approved Pharma PPARalpha agonist 173
atorvastatin Approved Pharma Competitive, Inhibitor 0
Heparin Approved, Investigational Pharma Antagonist 905
Irbesartan Approved, Investigational Pharma Antagonist Angiotensin II inhibitor 102

(50) Additional Compounds for APOB Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Triglycerides Group B
  • 1-Myristoyl-2-pentadecanoyl-3-nervonoyl-glycerol
  • 1-Tetradecanoyl-2-pentadecanoyl-3-(15Z-tetracosanoyl)-glycerol
  • TAG(14:0/15:0/24:1)
  • TAG(53:1)
  • TG(14:0/15:0/24:1)
555-45-3, 30719-27-8, 2190-24-1, 18641-57-1, 56933-26-7
Triglycerides Group D
  • 2,3-Di(octadecanoyloxy)propyl octadecanoate
  • Glyceryl tristearate
  • Stearic acid triglycerin ester
  • Stearin
  • Trioctadecanoin
genes like me logo Genes that share compounds with APOB: view

Transcripts for APOB Gene

mRNA/cDNA for APOB Gene

(1) REFSEQ mRNAs :
(27) Additional mRNA sequences :
(273) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for APOB Gene

Apolipoprotein B (including Ag(x) antigen):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for APOB Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^
SP1: -
SP2: -

ExUns: 26 ^ 27 ^ 28 ^ 29 ^ 30

Relevant External Links for APOB Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for APOB Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for APOB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for APOB Gene

This gene is overexpressed in Liver (x46.8) and Small Intestine - Terminal Ileum (x4.1).

Protein differential expression in normal tissues from HIPED for APOB Gene

This gene is overexpressed in Serum (25.8), Synovial fluid (18.1), Plasma (10.5), and Monocytes (7.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for APOB Gene

Protein tissue co-expression partners for APOB Gene

NURSA nuclear receptor signaling pathways regulating expression of APOB Gene:


SOURCE GeneReport for Unigene cluster for APOB Gene:


Evidence on tissue expression from TISSUES for APOB Gene

  • Gall bladder(5)
  • Liver(5)
  • Intestine(4.7)
  • Blood(4.1)
  • Bone marrow(4.1)
  • Adrenal gland(3.6)
  • Kidney(3.4)
  • Lung(3.4)
  • Heart(3)
  • Muscle(2.5)
  • Pancreas(2.1)
  • Skin(2.1)
  • Nervous system(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for APOB Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • skeleton
Head and neck:
  • brain
  • ear
  • eye
  • eyelid
  • face
  • head
  • heart
  • duodenum
  • intestine
  • liver
  • small intestine
  • blood
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with APOB: view

No data available for mRNA Expression by UniProt/SwissProt for APOB Gene

Orthologs for APOB Gene

This gene was present in the common ancestor of animals.

Orthologs for APOB Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia APOB 34 33
  • 99.24 (n)
(Canis familiaris)
Mammalia APOB 34 33
  • 83.81 (n)
(Mus musculus)
Mammalia Apob 16 34 33
  • 78.83 (n)
(Rattus norvegicus)
Mammalia Apob 33
  • 78.81 (n)
(Bos Taurus)
Mammalia APOB 34
  • 73 (a)
(Monodelphis domestica)
Mammalia -- 34
  • 64 (a)
-- 34
  • 58 (a)
-- 34
  • 40 (a)
(Ornithorhynchus anatinus)
Mammalia APOB 34
  • 62 (a)
(Gallus gallus)
Aves APOB 34 33
  • 61.51 (n)
(Anolis carolinensis)
Reptilia APOB 34
  • 47 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia apob 33
  • 57.37 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC64418 33
(Danio rerio)
Actinopterygii apoba 34 33
  • 50.01 (n)
apobl 34
  • 29 (a)
apobb 34
  • 29 (a)
APOB (4 of 4) 34
  • 23 (a)
fruit fly
(Drosophila melanogaster)
Insecta Rfabg 34
  • 16 (a)
CG15828 34
  • 13 (a)
Species where no ortholog for APOB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for APOB Gene

Gene Tree for APOB (if available)
Gene Tree for APOB (if available)
Evolutionary constrained regions (ECRs) for APOB: view image

Paralogs for APOB Gene

No data available for Paralogs for APOB Gene

Variants for APOB Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for APOB Gene

Genetic variations in APOB define the low density lipoprotein cholesterol level quantitative trait locus 4 (LDLCQ4) [MIM:107730].

Sequence variations from dbSNP and Humsavar for APOB Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1003535345 uncertain-significance, Familial hypercholesterolemia 21,044,016(-) G/A 5_prime_UTR_variant
rs1038411462 uncertain-significance, Hypercholesterolemia, autosomal dominant, type B, Hypobetalipoproteinemia, familial, 1 21,003,202(-) C/T coding_sequence_variant, missense_variant
rs1041968 conflicting-interpretations-of-pathogenicity, likely-benign, not specified, Familial hypobetalipoproteinemia, Familial hypercholesterolemia 21,009,932(-) G/A coding_sequence_variant, synonymous_variant
rs1041987699 uncertain-significance, Familial hypercholesterolemia, Familial hypobetalipoproteinemia 21,004,414(-) G/A coding_sequence_variant, missense_variant
rs1042023 likely-benign, benign, Familial hypercholesterolemia, not provided, Hypercholesterolemia, autosomal dominant, type B, Hypobetalipoproteinemia, familial, 1, not specified 21,006,574(-) G/C coding_sequence_variant, missense_variant

Variation tolerance for APOB Gene

Residual Variation Intolerance Score: 18.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 24.16; 99.62% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for APOB Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Structural Variations from Database of Genomic Variants (DGV) for APOB Gene

Disorders for APOB Gene

MalaCards: The human disease database

(67) MalaCards diseases for APOB Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search APOB in MalaCards View complete list of genes associated with diseases


  • Hypobetalipoproteinemia, familial, 1 (FHBL1) [MIM:615558]: A disorder of lipid metabolism characterized by less than 5th percentile age- and sex-specific levels of low density lipoproteins, and dietary fat malabsorption. Clinical presentation may vary from no symptoms to severe gastrointestinal and neurological dysfunction similar to abetalipoproteinemia. {ECO:0000269 PubMed:12551903, ECO:0000269 PubMed:21981844, ECO:0000269 PubMed:27206948}. Note=The disease is caused by mutations affecting the gene represented in this entry. Most cases of FHBL1 result from nonsense mutations in the APOB gene that lead to a premature stop codon, which generate prematurely truncated apo B protein products (PubMed:21981844). {ECO:0000269 PubMed:21981844}.
  • Familial ligand-defective apolipoprotein B-100 (FDB) [MIM:144010]: Dominantly inherited disorder of lipoprotein metabolism leading to hypercholesterolemia and increased proneness to coronary artery disease (CAD). The plasma cholesterol levels are dramatically elevated due to impaired clearance of LDL particles by defective APOB/E receptors. {ECO:0000269 PubMed:21382890, ECO:0000269 PubMed:2563166, ECO:0000269 PubMed:7883971, ECO:0000269 PubMed:9259199}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=Defects in APOB associated with defects in other genes (polygenic) can contribute to hypocholesterolemia.

Genatlas disease for APOB Gene

primary hypercholesterolemia with peripheral vascular disease,familial ligand defective APO-B (receptor binding defective LDL) and/or myocardial infarction susceptibility with an insertion/deletion polymorphism in the signal peptide

Additional Disease Information for APOB

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with APOB: view

Publications for APOB Gene

  1. Impact of genetic polymorphisms on platelet function and aspirin resistance. (PMID: 19923980) Pamukcu B … Nisanci Y (Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis 2010) 3 22 44 58
  2. Biological, clinical and population relevance of 95 loci for blood lipids. (PMID: 20686565) Teslovich TM … Kathiresan S (Nature 2010) 3 4 44 58
  3. XbaI polymorphisms of apolipoprotein B gene: another risk factor of gallstone formation after radical gastrectomy. (PMID: 20503456) Liu FL … Niu WX (World journal of gastroenterology 2010) 3 22 44 58
  4. Association of polymorphisms in apolipoprotein A1 and apolipoprotein B genes with lipid profile in Tamilian population. (PMID: 19729689) Padmaja N … Adithan C (Indian heart journal 2009) 3 22 44 58
  5. Effect of apolipoprotein B polymorphism on body mass index, serum protein and lipid profiles in children of Guangxi, China. (PMID: 19449275) Hu P … Du PF (Annals of human biology 2009) 3 22 44 58

Products for APOB Gene

Sources for APOB Gene

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