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Gene : APOB Homo sapiens

Name  ? apolipoprotein B Cytological Location  2p24.1
Brief Description  apolipoprotein B
description  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]
  • synonyms:
  • uc002red.3,
  • FLDB,
  • NM_000384,
  • LDLCQ4,
  • apoB-100,
  • OTTHUMG00000090785,
  • apolipoprotein B (including Ag(x) antigen),
  • apoB-48,
  • M14162,
  • APOB,
  • HGNC:603
  • identifiers:
  • 338,
  • ENSG00000084674,
  • APOB

Genome feature

Region: gene ? Length: 42645  
Location: 2:21001429-21044073 reverse strand Cyto location: 2p24.1


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Function

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

2 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

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Other

2011 SN Ps

5 Cross References

20 Data Sets

5 Homologues

0 Located Features

90 Rna Seq Results