Human Gene APOC2 (ENST00000252490.7) from GENCODE V44
  Description: Homo sapiens apolipoprotein C2 (APOC2), mRNA. (from RefSeq NM_000483)
RefSeq Summary (NM_000483): This gene encodes a lipid-binding protein belonging to the apolipoprotein gene family. The protein is secreted in plasma where it is a component of very low density lipoprotein. This protein activates the enzyme lipoprotein lipase, which hydrolyzes triglycerides and thus provides free fatty acids for cells. Mutations in this gene cause hyperlipoproteinemia type IB, characterized by hypertriglyceridemia, xanthomas, and increased risk of pancreatitis and early atherosclerosis. This gene is present in a cluster with other related apolipoprotein genes on chromosome 19. Naturally occurring read-through transcription exists between this gene and the neighboring upstream apolipoprotein C-IV (APOC4) gene. [provided by RefSeq, Mar 2011].
Gencode Transcript: ENST00000252490.7
Gencode Gene: ENSG00000234906.11
Transcript (Including UTRs)
   Position: hg38 chr19:44,946,051-44,949,565 Size: 3,515 Total Exon Count: 4 Strand: +
Coding Region
   Position: hg38 chr19:44,948,479-44,949,249 Size: 771 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:44,946,051-44,949,565)mRNA (may differ from genome)Protein (101 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: APOC2_HUMAN
DESCRIPTION: RecName: Full=Apolipoprotein C-II; Short=Apo-CII; Short=ApoC-II; AltName: Full=Apolipoprotein C2; Flags: Precursor;
FUNCTION: Component of the very low density lipoprotein (VLDL) fraction in plasma, and is an activator of several triacylglycerol lipases. The association of APOC2 with plasma chylomicrons, VLDL, and HDL is reversible, a function of the secretion and catabolism of triglyceride-rich lipoproteins, and changes rapidly.
SUBCELLULAR LOCATION: Secreted.
TISSUE SPECIFICITY: Secreted in plasma.
DISEASE: Defects in APOC2 are the cause of hyperlipoproteinemia type 1B (HLPP1B) [MIM:207750]. It is an autosomal recessive trait characterized by hypertriglyceridemia, xanthomas, and increased risk of pancreatitis and early atherosclerosis.
SIMILARITY: Belongs to the apolipoprotein C2 family.
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/APOC2";

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

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To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: APOC2
Diseases sorted by gene-association score: hyperlipoproteinemia, type ib* (1680), hypertriglyceridemia (33), pancreatitis (22), atherosclerosis (16), familial hyperlipidemia (10), hyperchylomicronemia, late-onset (10), familial lipoprotein lipase deficiency (7), steatorrhea (7), norum disease (5), pancreatitis, hereditary (4), acute pancreatitis (4), hypercholesterolemia, familial (1), diabetes mellitus, noninsulin-dependent (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 13.67 RPKM in Liver
Total median expression: 13.67 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -12.0038-0.316 Picture PostScript Text
3' UTR -90.30316-0.286 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR008019 - Apo-CII
IPR023121 - ApoC-II_domain

Pfam Domains:
PF05355 - Apolipoprotein C-II

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1BY6 - NMR 1I5J - NMR MuPIT 1O8T - NMR MuPIT 1SOH - NMR MuPIT


ModBase Predicted Comparative 3D Structure on P02655
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0008047 enzyme activator activity
GO:0008289 lipid binding
GO:0016004 phospholipase activator activity
GO:0042803 protein homodimerization activity
GO:0043274 phospholipase binding
GO:0055102 lipase inhibitor activity
GO:0060230 lipoprotein lipase activator activity

Biological Process:
GO:0001523 retinoid metabolic process
GO:0006629 lipid metabolic process
GO:0006869 lipid transport
GO:0010518 positive regulation of phospholipase activity
GO:0010898 positive regulation of triglyceride catabolic process
GO:0010902 positive regulation of very-low-density lipoprotein particle remodeling
GO:0010916 negative regulation of very-low-density lipoprotein particle clearance
GO:0016042 lipid catabolic process
GO:0032375 negative regulation of cholesterol transport
GO:0033344 cholesterol efflux
GO:0033700 phospholipid efflux
GO:0034370 triglyceride-rich lipoprotein particle remodeling
GO:0034371 chylomicron remodeling
GO:0034372 very-low-density lipoprotein particle remodeling
GO:0034375 high-density lipoprotein particle remodeling
GO:0034378 chylomicron assembly
GO:0034382 chylomicron remnant clearance
GO:0034384 high-density lipoprotein particle clearance
GO:0042493 response to drug
GO:0042632 cholesterol homeostasis
GO:0042953 lipoprotein transport
GO:0043086 negative regulation of catalytic activity
GO:0043691 reverse cholesterol transport
GO:0045723 positive regulation of fatty acid biosynthetic process
GO:0045833 negative regulation of lipid metabolic process
GO:0048261 negative regulation of receptor-mediated endocytosis
GO:0051006 positive regulation of lipoprotein lipase activity
GO:0060697 positive regulation of phospholipid catabolic process
GO:0070328 triglyceride homeostasis

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005769 early endosome
GO:0034361 very-low-density lipoprotein particle
GO:0034362 low-density lipoprotein particle
GO:0034363 intermediate-density lipoprotein particle
GO:0034364 high-density lipoprotein particle
GO:0034366 spherical high-density lipoprotein particle
GO:0042627 chylomicron


-  Descriptions from all associated GenBank mRNAs
  AK126257 - Homo sapiens cDNA FLJ44269 fis, clone TLIVE2005390, highly similar to APOLIPOPROTEIN C-IV PRECURSOR.
BC065270 - Homo sapiens apolipoprotein C-II, mRNA (cDNA clone MGC:75082 IMAGE:6165425), complete cds.
BC005348 - Homo sapiens apolipoprotein C-II, mRNA (cDNA clone MGC:12445 IMAGE:3935036), complete cds.
EU832654 - Synthetic construct Homo sapiens clone HAIB:100067683; DKFZo008F0431 apolipoprotein C-II protein (APOC2) gene, encodes complete protein.
EU832732 - Synthetic construct Homo sapiens clone HAIB:100067761; DKFZo004F0432 apolipoprotein C-II protein (APOC2) gene, encodes complete protein.
HQ257936 - Synthetic construct Homo sapiens clone IMAGE:100072245 Unknown protein gene, encodes complete protein.
KJ901288 - Synthetic construct Homo sapiens clone ccsbBroadEn_10682 APOC2 gene, encodes complete protein.
KU177908 - Homo sapiens apolipoprotein C-II isoform 1 (APOC2) mRNA, partial cds.
KU177909 - Homo sapiens apolipoprotein C-II isoform 2 (APOC2) mRNA, partial cds, alternatively spliced.
BT006708 - Homo sapiens apolipoprotein C-II mRNA, complete cds.
KJ896444 - Synthetic construct Homo sapiens clone ccsbBroadEn_05838 APOC2 gene, encodes complete protein.
KR710158 - Synthetic construct Homo sapiens clone CCSBHm_00010152 APOC2 (APOC2) mRNA, encodes complete protein.
KR710159 - Synthetic construct Homo sapiens clone CCSBHm_00010153 APOC2 (APOC2) mRNA, encodes complete protein.
KR710160 - Synthetic construct Homo sapiens clone CCSBHm_00010156 APOC2 (APOC2) mRNA, encodes complete protein.
KR710161 - Synthetic construct Homo sapiens clone CCSBHm_00010159 APOC2 (APOC2) mRNA, encodes complete protein.
X00568 - Human mRNA for lipoprotein apoCII.
M29844 - Human apolipoprotein C-II mRNA, 3' end.
AF113884 - Homo sapiens apolipoprotein C-II precursor (APOC2) mRNA, partial cds.
JD312724 - Sequence 293748 from Patent EP1572962.
JD469814 - Sequence 450838 from Patent EP1572962.
JD344547 - Sequence 325571 from Patent EP1572962.
JD225290 - Sequence 206314 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P02655 (Reactome details) participates in the following event(s):

R-HSA-266303 Spherical HDL binds C and E apolipoproteins
R-HSA-174660 nascent chylomicron + spherical HDL:apoC-II:apoC-III:apoE =>spherical HDL + chylomicron
R-HSA-2395784 Nascent CMs transform into mature CMs
R-HSA-174757 chylomicron => TG-depleted chylomicron + 50 long-chain fatty acids + 50 diacylglycerols
R-HSA-174690 TG-depleted chylomicron + spherical HDL => chylomicron remnant + spherical HDL:apoA-I:apoA-II:apoA-IV:apoC-II:apoC-III
R-HSA-2395768 LPL hydrolyses TGs from mature CMs
R-HSA-2404140 NREH hydrolyses atREs to atROL and FAs
R-HSA-2429643 NREH hydrolyses atREs (HSPG:apoE) to atROL and FAs
R-HSA-2423785 CR:atREs binds apoE and HSPG
R-HSA-2424254 LDLR transports extracellular CR:atREs to cytosol
R-HSA-2404131 LRPs transport extracellular CR:atREs:HSPG:apoE to cytosol
R-HSA-8964058 HDL remodeling
R-HSA-8963888 Chylomicron assembly
R-HSA-975634 Retinoid metabolism and transport
R-HSA-8963901 Chylomicron remodeling
R-HSA-8963899 Plasma lipoprotein remodeling
R-HSA-8963889 Assembly of active LPL and LIPC lipase complexes
R-HSA-8963898 Plasma lipoprotein assembly
R-HSA-2187338 Visual phototransduction
R-HSA-6806667 Metabolism of fat-soluble vitamins
R-HSA-174824 Plasma lipoprotein assembly, remodeling, and clearance
R-HSA-418594 G alpha (i) signalling events
R-HSA-196854 Metabolism of vitamins and cofactors
R-HSA-382551 Transport of small molecules
R-HSA-388396 GPCR downstream signalling
R-HSA-1430728 Metabolism
R-HSA-372790 Signaling by GPCR
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: APC2, APOC2_HUMAN, C0JYY4, ENST00000252490.1, ENST00000252490.2, ENST00000252490.3, ENST00000252490.4, ENST00000252490.5, ENST00000252490.6, NM_000483, P02655, Q9BS39, Q9UDE3, Q9UNK3, uc060zuu.1, uc060zuu.2, uc060zuu.3
UCSC ID: ENST00000252490.7
RefSeq Accession: NM_000483
Protein: P02655 (aka APOC2_HUMAN or APC2_HUMAN)
CCDS: CCDS12650.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.