ENSG00000234906


Homo sapiens

Features
Gene ID: ENSG00000234906
  
Biological name :APOC2
  
Synonyms : APOC2 / apolipoprotein C2 / P02655
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 19
Strand: 1
Band: q13.32
Gene start: 44945982
Gene end: 44949565
  
Corresponding Affymetrix probe sets: 204561_x_at (Human Genome U133 Plus 2.0 Array)   231561_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000466775
Ensembl peptide - ENSP00000477261
Ensembl peptide - ENSP00000476835
Ensembl peptide - ENSP00000252490
Ensembl peptide - ENSP00000465001
NCBI entrez gene - 344     See in Manteia.
OMIM - 608083
RefSeq - NM_000483
RefSeq Peptide - NP_000474
swissprot - V9GYJ8
swissprot - A0A024R0T9
swissprot - V9GZ01
swissprot - P02655
swissprot - Q6P163
Ensembl - ENSG00000234906
  
Related genetic diseases (OMIM): 207750 - Hyperlipoproteinemia, type Ib, 207750
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 Apoc2ENSMUSG00000002992Mus musculus
 Q05020ENSMUSG00000109350Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR008019  Apolipoprotein C-II


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001523 retinoid metabolic process TAS
 biological_processGO:0006629 lipid metabolic process IEA
 biological_processGO:0006869 lipid transport IEA
 biological_processGO:0010518 positive regulation of phospholipase activity IDA
 biological_processGO:0010898 positive regulation of triglyceride catabolic process IDA
 biological_processGO:0010902 positive regulation of very-low-density lipoprotein particle remodeling IC
 biological_processGO:0010916 negative regulation of very-low-density lipoprotein particle clearance IDA
 biological_processGO:0016042 lipid catabolic process IEA
 biological_processGO:0032375 negative regulation of cholesterol transport IMP
 biological_processGO:0033344 cholesterol efflux IDA
 biological_processGO:0033700 phospholipid efflux IDA
 biological_processGO:0034370 triglyceride-rich lipoprotein particle remodeling TAS
 biological_processGO:0034371 chylomicron remodeling IC
 biological_processGO:0034372 very-low-density lipoprotein particle remodeling TAS
 biological_processGO:0034375 high-density lipoprotein particle remodeling TAS
 biological_processGO:0034378 chylomicron assembly TAS
 biological_processGO:0034382 chylomicron remnant clearance IDA
 biological_processGO:0034384 high-density lipoprotein particle clearance IMP
 biological_processGO:0042493 response to drug IEA
 biological_processGO:0042632 cholesterol homeostasis IC
 biological_processGO:0042953 lipoprotein transport IEA
 biological_processGO:0043085 positive regulation of catalytic activity IEA
 biological_processGO:0043086 negative regulation of catalytic activity IEA
 biological_processGO:0043691 reverse cholesterol transport IC
 biological_processGO:0045723 positive regulation of fatty acid biosynthetic process IDA
 biological_processGO:0045833 negative regulation of lipid metabolic process IDA
 biological_processGO:0048261 negative regulation of receptor-mediated endocytosis IDA
 biological_processGO:0051006 positive regulation of lipoprotein lipase activity IDA
 biological_processGO:0060697 positive regulation of phospholipid catabolic process IDA
 biological_processGO:0070328 triglyceride homeostasis IMP
 cellular_componentGO:0005576 extracellular region TAS
 cellular_componentGO:0005615 extracellular space IDA
 cellular_componentGO:0005769 early endosome TAS
 cellular_componentGO:0034361 very-low-density lipoprotein particle IDA
 cellular_componentGO:0034362 low-density lipoprotein particle IEA
 cellular_componentGO:0034363 intermediate-density lipoprotein particle IDA
 cellular_componentGO:0034364 high-density lipoprotein particle IEA
 cellular_componentGO:0034366 spherical high-density lipoprotein particle IDA
 cellular_componentGO:0042627 chylomicron IDA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0008047 enzyme activator activity IEA
 molecular_functionGO:0008289 lipid binding IDA
 molecular_functionGO:0016004 phospholipase activator activity IDA
 molecular_functionGO:0042803 protein homodimerization activity IMP
 molecular_functionGO:0043274 phospholipase binding IPI
 molecular_functionGO:0055102 lipase inhibitor activity IDA
 molecular_functionGO:0060230 lipoprotein lipase activator activity IDA


Pathways (from Reactome)
Pathway description
Chylomicron assembly
Assembly of active LPL and LIPC lipase complexes
Chylomicron remodeling
HDL remodeling
Retinoid metabolism and transport


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000660 Lipemia retinalis 
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 HP:0001013 Eruptive xanthomas 
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 HP:0001733 Pancreatitis 
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 HP:0001744 Splenomegaly "An abnormal enlargement of the spleen." [HPO:curators]
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 HP:0002155 Hypertriglyceridemia 
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 HP:0002240 Hepatomegaly "An abnormal enlargment of the liver." [HPO:curators]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000110245 APOC3 / P02656 / apolipoprotein C3  / complex / reaction
 ENSG00000130203 APOE / P02649 / apolipoprotein E  / reaction / complex






 

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