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APOA2 Gene

protein-coding   GIFtS: 62
GCID: GC01M161192

Apolipoprotein A-II

  See APOA2-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Apolipoprotein A-II1 2
Apolipoprotein A22 3
Apo-AII2 3
ApoA-II2 3
apoAII2

External Ids:    HGNC: 6011   Entrez Gene: 3362   Ensembl: ENSG000001588747   OMIM: 1076705   UniProtKB: P026523   
ORGUL members:         

Export aliases for APOA2 gene to outside databases

Previous GC identifers: GC01M158903 GC01M156924 GC01M157969 GC01M158408 GC01M158005 GC01M159458 GC01M132549


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for APOA2 Gene:
This gene encodes apolipoprotein (apo-) A-II, which is the second most abundant protein of the high density
lipoprotein particles. The protein is found in plasma as a monomer, homodimer, or heterodimer with apolipoprotein
D. Defects in this gene may result in apolipoprotein A-II deficiency or hypercholesterolemia. (provided by
RefSeq, Jul 2008)

GeneCards Summary for APOA2 Gene:
APOA2 (apolipoprotein A-II) is a protein-coding gene. Diseases associated with APOA2 include apolipoprotein a-ii deficiency, and familial renal amyloidosis due to apolipoprotein aii variant. GO annotations related to this gene include phospholipid binding and protein homodimerization activity.

UniProtKB/Swiss-Prot: APOA2_HUMAN, P02652
Function: May stabilize HDL (high density lipoprotein) structure by its association with lipids, and affect the
HDL metabolism

Gene Wiki entry for APOA2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000001.10  NC_018912.2  NT_004487.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the APOA2 gene promoter:
         E2F-3a   E2F-4   E2F-5   E2F-2   LCR-F1   CREB   PPAR-gamma1   E2F   E2F-1   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): APOA2 promoter sequence
   Search Chromatin IP Primers for APOA2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat APOA2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q23.3   Ensembl cytogenetic band:  1q23.3   HGNC cytogenetic band: 1q23.3

APOA2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
APOA2 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M161192:  view genomic region     (about GC identifiers)

Start:
161,192,082 bp from pter      End:
161,193,421 bp from pter
Size:
1,340 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: APOA2_HUMAN, P02652 (See protein sequence)
Recommended Name: Apolipoprotein A-II precursor  
Size: 100 amino acids; 11175 Da
Subunit: Homodimer; disulfide-linked. Also forms a disulfide-linked heterodimer with APOD. Interacts with HCV core
protein. Interacts with APOA1BP and NDRG1
Mass spectrometry: Mass=17252; Method=Electrospray; Range=24-100; Note=Homodimer, without methionine sulfoxide;
Source=PubMed:12576517;
Mass spectrometry: Mass=17269; Method=Electrospray; Range=24-100; Note=Homodimer, with 1 methionine sulfoxide,
oxidation at Met-49; Source=PubMed:12576517;
Mass spectrometry: Mass=8701.2; Method=MALDI; Range=24-100; Source=PubMed:12562854;
Mass spectrometry: Mass=8823.4; Method=MALDI; Range=24-100; Note=Cysteinylated ApoA-II; Source=PubMed:12562854;
Mass spectrometry: Mass=17421.3; Method=MALDI; Range=24-100; Note=Homodimer; Source=PubMed:12562854;
Mass spectrometry: Mass=17293.4; Method=MALDI; Range=24-100; Note=Heterodimer with truncated apolipoprotein A-II;
Source=PubMed:12562854;
Mass spectrometry: Mass=8578.3; Method=MALDI; Range=24-99; Source=PubMed:12562854;
Mass spectrometry: Mass=17166.2; Method=MALDI; Range=24-99; Note=Homodimer; Source=PubMed:12562854;
2 PDB 3D structures from and Proteopedia for APOA2:
1L6L (3D)        2OU1 (3D)    
Secondary accessions: B2R524

Explore the universe of human proteins at neXtProt for APOA2: NX_P02652

Explore proteomics data for APOA2 at MOPED

Post-translational modifications: 

  • Phosphorylation sites are present in the extracellular medium1
  • Apolipoprotein A-II is O-glycosylated1
  • Glycosylation2 at Thr42
  • Modification sites at PhosphoSitePlus

  • See APOA2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001634.1  
    ENSEMBL proteins: 
     ENSP00000356969   ENSP00000476662   ENSP00000476890   ENSP00000477054   ENSP00000477031  
     ENSP00000476911   ENSP00000477353   ENSP00000476740   ENSP00000476605  
    Reactome Protein details: P02652

    APOA2 Human Recombinant Protein Products:

    EMD Millipore Purified and/or Recombinant APOA2 Protein
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    OriGene Protein Over-expression Lysate for APOA2
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    Novus Biologicals APOA2 Proteins
    Novus Biologicals APOA2 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for APOA2

     
    Search eBioscience for Proteins for APOA2 

    APOA2 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of APOA2
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    Abcam antibodies for APOA2
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    ThermoFisher Antibodies for APOA2
    LSBio Antibodies in human, mouse, rat for APOA2

    APOA2 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for APOA2
    Cloud-Clone Corp. CLIAs for APOA2
    Search eBioscience for ELISAs for APOA2 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    APOLIPO: Apolipoproteins

    1 InterPro protein domain:
     IPR006801 ApoA-II

    Graphical View of Domain Structure for InterPro Entry P02652

    ProtoNet protein and cluster: P02652

    1 Blocks protein domain: IPB006801 Apolipoprotein A-II (ApoA-II)

    UniProtKB/Swiss-Prot: APOA2_HUMAN, P02652
    Similarity: Belongs to the apolipoprotein A2 family


    Find genes that share domains with APOA2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: APOA2_HUMAN, P02652
    Function: May stabilize HDL (high density lipoprotein) structure by its association with lipids, and affect the
    HDL metabolism

         Genatlas biochemistry entry for APOA2:
    apolipoprotein A-II,associated with HDL (see TSG1M)

         Gene Ontology (GO): Selected molecular function terms (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005319lipid transporter activity IDA1606170
    GO:0005515protein binding IPI11991719
    GO:0005543phospholipid binding IDA218942
    GO:0008035high-density lipoprotein particle binding IEA--
    GO:0008289lipid binding IDA14967812
         
    Find genes that share ontologies with APOA2           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for APOA2:
     Decreased viability of wild-ty  Increased G2M DNA content, inc 

         3 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Apoa2):
     growth/size/body  homeostasis/metabolism  other 

    Find genes that share phenotypes with APOA2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Apoa2tm1Bres for APOA2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for APOA2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for APOA2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for APOA2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for APOA2

    miRNA
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    Inhib. RNA
    Products:
        
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    Predesigned siRNA for gene silencing in human, mouse, rat APOA2

    Gene Editing
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    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: APOA2 (NM_001643)
    Sino Biological Human cDNA Clone for APOA2
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for APOA2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat APOA2

    Cell Line
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    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for APOA2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    APOA2_HUMAN, P02652: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    cytosol4
    endoplasmic reticulum4
    endosome4
    peroxisome2
    nucleus1
    plasma membrane1

    Gene Ontology (GO): Selected cellular component terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005615extracellular space ----
    GO:0005769early endosome TAS--
    GO:0005788endoplasmic reticulum lumen TAS--
    GO:0005829cytosol TAS--

    Find genes that share ontologies with APOA2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for APOA2 About   (see all 11)  
    See pathways by source

    SuperPathContained pathways About
    1Fatty acid, triacylglycerol, and ketone body metabolism
    Fatty acid, triacylglycerol, and ketone body metabolism0.65
    PPARA Activates Gene Expression0.63
    Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)0.65
    2Lipoprotein metabolism
    Lipoprotein metabolism0.59
    Chylomicron-mediated lipid transport0.00
    Lipid digestion, mobilization, and transport0.59
    3Diseases associated with visual transduction
    Visual phototransduction0.44
    Diseases associated with visual transduction0.43
    Retinoid metabolism and transport0.44
    4Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    5Statin Pathway
    Statin Pathway0.73


    Find genes that share SuperPaths with APOA2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for APOA2
        Cholesterol and Sphingolipids transport / Recycling to plasma membrane in lung (normal and CF)

    2 BioSystems Pathways for APOA2
        Statin Pathway
    Complement and Coagulation Cascades


    3 Reactome Pathways for APOA2
        Retinoid metabolism and transport
    PPARA activates gene expression
    Chylomicron-mediated lipid transport


    1 Kegg Pathway  (Kegg details for APOA2):
        PPAR signaling pathway

        Pathway & Disease-focused RT2 Profiler PCR Arrays including APOA2: 
              Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat
              Inflammatory Response & Autoimmunity 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for APOA2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for APOA2 (P026523 ENSP000003569694) via UniProtKB, MINT, STRING, and/or I2D (see all 36)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    C4AP0C0L43, ENSP000003966884I2D: score=1 STRING: ENSP00000396688
    ENSG00000206340P0C0L43I2D: score=1 
    ENSG00000227746P0C0L43I2D: score=1 
    APOC1P026543, ENSP000002524914I2D: score=1 STRING: ENSP00000252491
    CFTRP135693, ENSP000000030844I2D: score=1 STRING: ENSP00000003084
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 45):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001523retinoid metabolic process TAS--
    GO:0002526acute inflammatory response IEA--
    GO:0002740negative regulation of cytokine secretion involved in immune response IDA12458630
    GO:0006457protein folding IDA14967812
    GO:0006641triglyceride metabolic process TAS11551871

    Find genes that share ontologies with APOA2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for APOA2

    Selected Novoseek inferred chemical compound relationships for APOA2 gene (see all 30)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cholesterol 77.8 191 2105749 (4), 11773507 (4), 9651324 (3), 1591822 (3) (see all 89)
    lipid 65.9 40 9022694 (4), 9651324 (2), 9895287 (2), 9578492 (2) (see all 29)
    mspi 53.9 6 1352975 (3), 1281133 (2), 9001797 (1)
    phospholipid 51.8 6 9254056 (2), 10335875 (1), 12671027 (1), 11162594 (1) (see all 5)
    fenofibrate 46.4 3 19325138 (2), 7635967 (1)
    cholesterol ester 35.6 1 17872455 (1)
    intralipid 34.7 1 8944748 (1)
    bezafibrate 27.3 3 8871265 (2)
    triacylglycerol 27.3 4 14967812 (2), 15158304 (1)
    phosphatidylcholine 27.2 5 8934442 (1), 9610765 (1), 10569952 (1), 10588955 (1)



    Find genes that share compounds with APOA2           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for APOA2 gene: 
    NM_001643.1  

    Unigene Cluster for APOA2:

    Apolipoprotein A-II
    Hs.237658  [show with all ESTs]
    Unigene Representative Sequence: BU959980
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000481413 ENST00000367990(uc001fzc.1) ENST00000468465(uc001fzb.1)
    ENST00000463812 ENST00000481511 ENST00000470459 ENST00000464492 ENST00000491350
    ENST00000463273 ENST00000469730
    miRNA
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      QuantiFast Probe-based Assays in human, mouse, rat APOA2

    Additional mRNA sequence: 

    AB106565.1 AK312034.1 BC005282.1 BT006786.1 M29882.1 X00955.1 

    17 DOTS entries:

    DT.92454627  DT.92454636  DT.121399929  DT.99986662  DT.100820522  DT.100820519  DT.95260166  DT.95260217 
    DT.100820518  DT.121399912  DT.121399918  DT.87017590  DT.121399913  DT.121399938  DT.121399945  DT.95260191 
    DT.92454617 

    Selected AceView cDNA sequences (see all 591):

    AV645683 AI200608 BX097461 BQ649911 AV660323 AV681986 N72943 AV645949 
    AV682463 M29882 AV681768 T73429 R29040 H67695 AV682626 T74103 
    BG568960 H79808 AV647784 AI114547 BQ653709 H54226 CR595207 AV682606 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for APOA2 (see all 6)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c
    SP1:              -                 -                                 
    SP2:              -                 -     -                           
    SP3:                                -                                 
    SP4:              -     -     -     -                                 
    SP5:                                                                  


    ECgene alternative splicing isoforms for APOA2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    APOA2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGTGGAGAGC
    APOA2 Expression
    About this image


    APOA2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Liver (Hepatobiliary System)    fully expand to see all 3 entries
             Liver Lobule
             Hepatocyte-like cells
     
     NULL (Uncategorized)    fully expand to see all 5 entries
             Definitive endoderm-like cells
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
             Human embryonic stem cells (family)
     
     Primitive Streak (Early Embryonic Tissues)
             Primitive streak-like cells
     
     Heart (Cardiovascular System)
             Cardiomyocyte-like progenitor cells
    APOA2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    APOA2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.237658

    UniProtKB/Swiss-Prot: APOA2_HUMAN, P02652
    Tissue specificity: Plasma; synthesized in the liver and intestine

        Pathway & Disease-focused RT2 Profiler PCR Arrays including APOA2: 
              Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat
              Inflammatory Response & Autoimmunity 384HT in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for APOA2
    OriGene qSTAR qPCR primer pairs in human, mouse for APOA2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat APOA2
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    QuantiFast Probe-based Assays in human, mouse, rat APOA2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for APOA2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of human and mouse.

    Orthologs for APOA2 gene from Selected species (see all 6)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Apoa21 , 5 apolipoprotein A-II1, 5 74.15(n)1
    64.29(a)1
      1 (79.22 cM)5
    118071  NM_013474.21  NP_038502.21 
     1712250545 


    ENSEMBL Gene Tree for APOA2 (if available)
    TreeFam Gene Tree for APOA2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Polymorphic Variants from UniProtKB/Swiss-Prot
    APOA2_HUMAN, P02652: A homozygous transition at position 1 of intron 3 of APOA2 results in deficiency of apolipoprotein
    A-II, without significant influence either on lipid and lipoprotein profiles or on the occurrence of coronary
    artery disease [MIM:107670]


    Selected SNPs for APOA2 (see all 118)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs723743751,2
    C--161192846(+) CTGCC-/CACAC 
     ACACACA
    CACAC
    1 -- int10--------
    rs1415991251,2
    C--161192846(+) CTGCC-/CACACA
            
    CACAC
    1 -- int10--------
    rs172445021,2
    C,F--161192873(-) AAAGA-/GT/GTGT/GTGTGT/GTGTGTGT/GTGTGTGTGT/GTG
    TGTGTGTGT
    /GTGTGTGTGTGTGT/GTGTGTGTGTGTGTGT
    GTGTG
    2 -- int1 cds13NS NA 98
    rs1870387321,2
    --167687866(+) TGGGAC/TTACAG 1 -- ds50010--------
    rs1493497721,2
    C--167687875(+) AGGCAC/TGTGCC 1 -- ds50010--------
    rs127210361,2
    C,F--167687949(-) GAGTTC/ACAGAC 1 -- ds50016Minor allele frequency- A:0.11NS NA WA 246
    rs121432411,2
    C,F--167687999(+) GCAGGG/AATTAC 1 -- ds50017Minor allele frequency- A:0.10NS NA 248
    rs1162431941,2
    F--167688264(+) CCTTCT/CAGAAG 1 -- ds50011Minor allele frequency- C:0.02WA 118
    rs768167171,2
    C--167688347(+) CTCAGA/TGCTGG 1 -- ds50010--------
    rs802688981,2
    C--167688348(-) TCCAGA/C/GTCTGA 1 -- ds50011CSA 1

    HapMap Linkage Disequilibrium report for APOA2 (161192082 - 161193421 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for APOA2: --
    Human Gene Mutation Database (HGMD): APOA2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing APOA2
    DNA2.0 Custom Variant and Variant Library Synthesis for APOA2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 107670   
    OMIM disorders: 143890  
    Selected diseases for APOA2 (see all 23):    
    About MalaCards
    apolipoprotein a-ii deficiency    familial renal amyloidosis due to apolipoprotein aii variant    hypercholesterolemia, familial, modifier of    familial hyperlipidemia
    peripheral vascular disease    carotid artery disease    familial hypertriglyceridemia    fish-eye disease
    norum disease    hyperalphalipoproteinemia    hypoalphalipoproteinemia    tangier disease
    hereditary amyloidosis    hypercholesterolemia    familial combined hyperlipidemia    eye disease
    vascular disease    hyperthyroidism    amyloidosis    hypertriglyceridemia

    7 diseases from the University of Copenhagen DISEASES database for APOA2:
    Tangier disease     Atherosclerosis     Coronary heart disease     Amyloidosis
    Familial hyperlipidemia     Norum disease     Diabetes mellitus

    Find genes that share disorders with APOA2           About GenesLikeMe

    Selected Novoseek inferred disease relationships for APOA2 gene (see all 32)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    fish-eye disease 77.8 3 8282802 (2)
    tangier disease 77.1 2 8347683 (1), 8348751 (1)
    hypoalphalipoproteinemia 75.6 2 7712672 (1), 12364558 (1)
    lecithin cholesterol acyltransferase deficiency 74.8 2 8282802 (1)
    lcat deficiency 72.4 6 8282802 (2), 10206431 (1), 8018670 (1)
    hyperalphalipoproteinemia 67.2 1 8462178 (1)
    hypertriglyceridemias familial 66.1 2 1907081 (2)
    cetp deficiency 64.1 1 14657195 (1)
    hyperlipidemia familial combined 56.1 3 15166779 (2), 15388641 (1)
    hypertriglyceridemia 54.6 6 15466364 (1), 7989603 (1), 17709437 (1), 9001797 (1) (see all 5)

    Genatlas disease: APOA2
    apolipoprotein A-II deficiency

    Genetic Association Database (GAD): APOA2
    Human Genome Epidemiology (HuGE) Navigator: APOA2 (43 documents)

    Export disorders for APOA2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for APOA2 gene, integrated from 10 sources (see all 378):
    (articles sorted by number of sources associating them with APOA2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Sequence polymorphism at the human apolipoprotein AII gene (APOA2): unexpected deficit of variation in an African-American sample. (PubMed id 12136239)1, 2, 4 Fullerton S.M.... Nickerson D.A. (Hum. Genet. 2002)
    2. Characterization of specifically oxidized apolipoproteins in mildly oxidized high density lipoprotein. (PubMed id 12576517)1, 2, 9 Pankhurst G.... Stocker R. (J. Lipid Res. 2003)
    3. A splice-junction mutation responsible for familial apolipoprotein A- II deficiency. (PubMed id 2107739)1, 2, 9 Deeb S.S.... Albers J.J. (Am. J. Hum. Genet. 1990)
    4. APOA2, dietary fat, and body mass index: replication of a gene-diet interaction in 3 independent populations. (PubMed id 19901143)1, 4, 9 Corella D....Ordovas J.M. (Arch. Intern. Med. 2009)
    5. Candidate genetic analysis of plasma high-density lipoprotein-cholesterol and severity of coronary atherosclerosis. (PubMed id 19878569)1, 4, 9 Chen S.N....Marian A.J. (BMC Med. Genet. 2009)
    6. Novel mass spectrometric immunoassays for the rapid structural characterization of plasma apolipoproteins. (PubMed id 12562854)1, 2, 9 Niederkofler E.E.... Nelson R.W. (J. Lipid Res. 2003)
    7. Risk of meningioma and common variation in genes related to innate immunity. (PubMed id 20406964)1, 4 Rajaraman P....Inskip P.D. (amp 2010)
    8. Polymorphisms in innate immunity genes and risk of childhood leukemia. (PubMed id 20438785)1, 4 Han S....Kang D. (Hum. Immunol. 2010)
    9. Genetic susceptibility to distinct bladder cancer subphenotypes. (PubMed id 19692168)1, 4 Guey L.T....Malats N. (Eur. Urol. 2010)
    10. Physiogenomic analysis of statin-treated patients: domain-specific counter effects within the ACACB gene on low-density lipoprotein cholesterol? (PubMed id 20602615)1, 4 RuaA+o G....Wu A.H. (Pharmacogenomics 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 336 HGNC: 601 AceView: APOA2 Ensembl:ENSG00000158874 euGenes: HUgn336
    ECgene: APOA2 Kegg: 336 H-InvDB: APOA2

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for APOA2 Pharmacogenomics, SNPs, Pathways
    SHMPDhttp://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=APOA2

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for APOA2 gene:
    Search GeneIP for patents involving APOA2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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