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Aliases for APOC2 Gene

Aliases for APOC2 Gene

  • Apolipoprotein C2 2 3 4 5
  • Apolipoprotein C-II 2 3
  • APO-CII 3 4
  • APOC-II 3 4
  • APC2 4

External Ids for APOC2 Gene

Previous GeneCards Identifiers for APOC2 Gene

  • GC19P046094
  • GC19P045840
  • GC19P050125
  • GC19P050141
  • GC19P050138
  • GC19P045449
  • GC19P041879

Summaries for APOC2 Gene

Entrez Gene Summary for APOC2 Gene

  • 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]

GeneCards Summary for APOC2 Gene

APOC2 (Apolipoprotein C2) is a Protein Coding gene. Diseases associated with APOC2 include Hyperlipoproteinemia, Type Ib and Hypertriglyceridemia. Among its related pathways are Metabolism of fat-soluble vitamins and Statin Pathway. GO annotations related to this gene include protein homodimerization activity and enzyme activator activity.

UniProtKB/Swiss-Prot for APOC2 Gene

  • Component of chylomicrons, very low-density lipoproteins (VLDL), low-density lipoproteins (LDL), and high-density lipoproteins (HDL) in plasma. Plays an important role in lipoprotein metabolism as an activator of lipoprotein lipase. Both proapolipoprotein C-II and apolipoprotein C-II can activate lipoprotein lipase. In normolipidemic individuals, it is mainly distributed in the HDL, whereas in hypertriglyceridemic individuals, predominantly found in the VLDL and LDL.

Gene Wiki entry for APOC2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for APOC2 Gene

Genomics for APOC2 Gene

Regulatory Elements for APOC2 Gene

Enhancers for APOC2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19G044951 1.4 FANTOM5 Ensembl ENCODE 26.4 +5.7 5716 1.1 ZSCAN4 ARID4B RAD21 ZNF335 ZNF121 GATA2 SCRT2 ZNF143 SMARCA5 ZNF654 APOC2 APOE MARK4 ENSG00000267114
GH19G044945 1.3 Ensembl ENCODE 27.7 0.0 -33 1.8 ATF1 ARNT MLX ARID4B GLI4 DMAP1 ZNF48 YY1 ZNF121 GATA2 APOC2 APOC4 APOC4-APOC2
GH19G044943 1.2 Ensembl ENCODE 26.5 -2.0 -2013 0.6 HDGF PKNOX1 ATF1 ARNT ZNF48 YY1 ELK1 ZNF592 CREB3 SMARCA4 APOC2 APOC4-APOC2 APOC4
GH19G045015 1.2 Ensembl ENCODE 18.5 +70.6 70632 2.6 HDGF FOXA2 WRNIP1 ARID4B BMI1 RAD21 ZNF143 ZNF207 RELB ETV6 APOC2 CLASRP RNU6-611P GEMIN7 ZNF296 PPP1R37 APOE RELB
GH19G044953 1.1 ENCODE 19.9 +9.3 9300 3.4 HDGF PKNOX1 CREB3L1 ARNT WRNIP1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 APOC2 CLPTM1 GC19M044995
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around APOC2 on UCSC Golden Path with GeneCards custom track

Genomic Location for APOC2 Gene

Chromosome:
19
Start:
44,945,982 bp from pter
End:
44,949,565 bp from pter
Size:
3,584 bases
Orientation:
Plus strand

Genomic View for APOC2 Gene

Genes around APOC2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
APOC2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for APOC2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for APOC2 Gene

Proteins for APOC2 Gene

  • Protein details for APOC2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P02655-APOC2_HUMAN
    Recommended name:
    Apolipoprotein C-II
    Protein Accession:
    P02655
    Secondary Accessions:
    • C0JYY4
    • Q9BS39
    • Q9UDE3
    • Q9UNK3

    Protein attributes for APOC2 Gene

    Size:
    101 amino acids
    Molecular mass:
    11284 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for APOC2 Gene

neXtProt entry for APOC2 Gene

Post-translational modifications for APOC2 Gene

  • Proapolipoprotein C-II is synthesized as a sialic acid containing glycoprotein which is subsequently desialylated prior to its proteolytic processing.
  • Proapolipoprotein C-II, the major form found in plasma undergoes proteolytic cleavage of its N-terminal hexapeptide to generate apolipoprotein C-II, which occurs as the minor form in plasma.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for APOC2 Gene

Antibody Products

  • R&D Systems Antibodies for APOC2 (Apolipoprotein C-II/ApoC2)
  • Santa Cruz Biotechnology (SCBT) Antibodies for APOC2

No data available for DME Specific Peptides for APOC2 Gene

Domains & Families for APOC2 Gene

Gene Families for APOC2 Gene

Protein Domains for APOC2 Gene

Suggested Antigen Peptide Sequences for APOC2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P02655

UniProtKB/Swiss-Prot:

APOC2_HUMAN :
  • Belongs to the apolipoprotein C2 family.
Family:
  • Belongs to the apolipoprotein C2 family.
genes like me logo Genes that share domains with APOC2: view

Function for APOC2 Gene

Molecular function for APOC2 Gene

GENATLAS Biochemistry:
apolipoprotein C-II,component of VLDL,activator of several tri-acylglycerollipases
UniProtKB/Swiss-Prot Function:
Component of chylomicrons, very low-density lipoproteins (VLDL), low-density lipoproteins (LDL), and high-density lipoproteins (HDL) in plasma. Plays an important role in lipoprotein metabolism as an activator of lipoprotein lipase. Both proapolipoprotein C-II and apolipoprotein C-II can activate lipoprotein lipase. In normolipidemic individuals, it is mainly distributed in the HDL, whereas in hypertriglyceridemic individuals, predominantly found in the VLDL and LDL.

Gene Ontology (GO) - Molecular Function for APOC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008047 enzyme activator activity IEA --
GO:0008289 lipid binding IDA 10727238
GO:0016004 phospholipase activator activity IDA 10727238
GO:0042803 protein homodimerization activity IMP 8245722
GO:0043274 phospholipase binding IPI 10727238
genes like me logo Genes that share ontologies with APOC2: view
genes like me logo Genes that share phenotypes with APOC2: view

Human Phenotype Ontology for APOC2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for APOC2 Gene

Localization for APOC2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for APOC2 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
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 APOC2 gene
Compartment Confidence
extracellular 5
cytosol 4
endosome 4
nucleus 1

Gene Ontology (GO) - Cellular Components for APOC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IDA 10727238
GO:0005769 early endosome TAS --
GO:0005829 cytosol TAS --
GO:0034361 very-low-density lipoprotein particle IDA 8245722
genes like me logo Genes that share ontologies with APOC2: view

Pathways & Interactions for APOC2 Gene

genes like me logo Genes that share pathways with APOC2: view

Pathways by source for APOC2 Gene

Gene Ontology (GO) - Biological Process for APOC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001523 retinoid metabolic process TAS --
GO:0006629 lipid metabolic process IEA --
GO:0006810 transport IEA --
GO:0006869 lipid transport IEA --
GO:0010518 positive regulation of phospholipase activity IDA 10727238
genes like me logo Genes that share ontologies with APOC2: view

No data available for SIGNOR curated interactions for APOC2 Gene

Drugs & Compounds for APOC2 Gene

(11) Drugs for APOC2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(22) Additional Compounds for APOC2 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Triglycerides Group A
  • 1-Palmitoyl-2-palmitoyl-3-stearoyl-glycerol
  • TAG(16:0/16:0/18:0)
  • TAG(50:0)
  • TG(16:0/16:0/18:0)
  • TG(50:0)
Triglycerides Group C
  • 1-Stearoyl-2-stearoyl-3-stearoyl-glycerol
  • TAG(18:0/18:0/18:0)
  • TAG(54:0)
  • TG(18:0/18:0/18:0)
  • TG(54:0)
Triglycerides Group D
  • 1,2, 3-Propanetriyl-Decanoate
  • 1,2, 3-Propanetriyl-Decanoic acid
  • 2,3-Bis(decanoyloxy)propyl decanoate
  • 2,3-Bis(decanoyloxy)propyl decanoate (ACD/Name 4.0)
  • 2,3-Bis(decanoyloxy)propyl decanoic acid
621-71-6, 30773-83-2, 555-44-2, 122-32-7
genes like me logo Genes that share compounds with APOC2: view

Transcripts for APOC2 Gene

Unigene Clusters for APOC2 Gene

Apolipoprotein C-II:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for APOC2 Gene

No ASD Table

Relevant External Links for APOC2 Gene

GeneLoc Exon Structure for
APOC2
ECgene alternative splicing isoforms for
APOC2

Expression for APOC2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for APOC2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for APOC2 Gene

This gene is overexpressed in Liver (x50.8).

Protein differential expression in normal tissues from HIPED for APOC2 Gene

This gene is overexpressed in Serum (41.2) and Plasma (11.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for APOC2 Gene



Protein tissue co-expression partners for APOC2 Gene

NURSA nuclear receptor signaling pathways regulating expression of APOC2 Gene:

APOC2

SOURCE GeneReport for Unigene cluster for APOC2 Gene:

Hs.75615

mRNA Expression by UniProt/SwissProt for APOC2 Gene:

P02655-APOC2_HUMAN
Tissue specificity: Liver and intestine.

Evidence on tissue expression from TISSUES for APOC2 Gene

  • Liver(4.9)
  • Muscle(4.1)
  • Blood(2.8)

Phenotype-based relationships between genes and organs from Gene ORGANizer for APOC2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • respiratory
Organs:
Head and neck:
  • ear
  • eye
  • head
Thorax:
  • diaphragm
  • esophagus
  • heart
  • lung
Abdomen:
  • duodenum
  • intestine
  • liver
  • pancreas
  • small intestine
  • spleen
  • stomach
General:
  • blood
  • blood vessel
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with APOC2: view

Primer Products

Orthologs for APOC2 Gene

This gene was present in the common ancestor of mammals.

Orthologs for APOC2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia APOC2 34 35
  • 99.01 (n)
dog
(Canis familiaris)
Mammalia APOC2 34 35
  • 80 (n)
cow
(Bos Taurus)
Mammalia APOC2 34 35
  • 77.23 (n)
mouse
(Mus musculus)
Mammalia Apoc2 34 16 35
  • 73.54 (n)
rat
(Rattus norvegicus)
Mammalia Apoc2 34
  • 71.13 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia APOC2 35
  • 38 (a)
OneToOne
Species where no ortholog for APOC2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for APOC2 Gene

ENSEMBL:
Gene Tree for APOC2 (if available)
TreeFam:
Gene Tree for APOC2 (if available)

Paralogs for APOC2 Gene

(1) SIMAP similar genes for APOC2 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with APOC2: view

No data available for Paralogs for APOC2 Gene

Variants for APOC2 Gene

Sequence variations from dbSNP and Humsavar for APOC2 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs120074115 Pathogenic, Hyperlipoproteinemia 1B (HLPP1B) [MIM:207750] 44,948,787(+) GTTAC(C/T)GGGAG nc-transcript-variant, reference, missense
rs120074111 Pathogenic 44,948,822(+) CTGTA(A/C/G/T)GAGAA nc-transcript-variant, reference, synonymous-codon, stop-gained
rs120074112 Pathogenic 44,948,479(+) ACACT(A/G)TGGGC nc-transcript-variant, reference, missense
rs120074114 Pathogenic 44,948,767(+) GGTGA(A/C)GGAAT nc-transcript-variant, reference, missense
rs120074116 Pathogenic 44,949,198(+) ACTTA(A/C)ACAGG nc-transcript-variant, reference, stop-gained

Variation tolerance for APOC2 Gene

Residual Variation Intolerance Score: 84.6% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for APOC2 Gene

Human Gene Mutation Database (HGMD)
APOC2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
APOC2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for APOC2 Gene

Disorders for APOC2 Gene

MalaCards: The human disease database

(13) MalaCards diseases for APOC2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hyperlipoproteinemia, type ib
  • apolipoprotein c-ii deficiency
hypertriglyceridemia
  • hypertriglyceridemia, familial
pancreatitis
hyperchylomicronemia, late-onset
  • hyperlipidemia, familial combined
familial hyperlipidemia
  • familial hyperlipoproteinemia
- elite association - COSMIC cancer census association via MalaCards
Search APOC2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

APOC2_HUMAN
  • Hyperlipoproteinemia 1B (HLPP1B) [MIM:207750]: Autosomal recessive trait characterized by hypertriglyceridemia, xanthomas, and increased risk of pancreatitis and early atherosclerosis. {ECO:0000269 PubMed:8323539}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for APOC2 Gene

hyperlipoproteinemia,type IB (CII deficiency)

Relevant External Links for APOC2

Genetic Association Database (GAD)
APOC2
Human Genome Epidemiology (HuGE) Navigator
APOC2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
APOC2
genes like me logo Genes that share disorders with APOC2: view

Publications for APOC2 Gene

  1. Lipoprotein lipase mutation S447X associated with pancreatic calcification and steatorrhea in hyperlipidemic pancreatitis. (PMID: 19034041) Chang Y.T. … Wong J.M. (J. Clin. Gastroenterol. 2009) 3 22 46 64
  2. Candidate genetic analysis of plasma high-density lipoprotein-cholesterol and severity of coronary atherosclerosis. (PMID: 19878569) Chen S.N. … Marian A.J. (BMC Med. Genet. 2009) 3 22 46 64
  3. Expression of the apolipoprotein C-II gene during myelomonocytic differentiation of human leukemic cells. (PMID: 11310852) Chun E.M. … Kim Y.H. (J. Leukoc. Biol. 2001) 3 4 22 64
  4. [Genetic polymorphism analysis of apolipoprotein CII microsatellite DNA (TG) n (AG) m in patients with coronary heart disease]. (PMID: 11930616) Gao C. … Yin Z. (Zhonghua Yi Xue Za Zhi 2001) 3 22 46 64
  5. The apolipoprotein C-II variant apoC-II Lys-19-->Thr is not associated with dyslipidemia in an affected kindred. (PMID: 7923858) Zysow B.R. … Kane J.P. (Clin. Genet. 1994) 3 4 22 64

Products for APOC2 Gene

Sources for APOC2 Gene

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