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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ANGPTL3 Gene

protein-coding   GIFtS: 59
GCID: GC01P062998

angiopoietin-like 3


(Previous symbol: ANGPT5)
 Explore 7 diseases affiliated with
ANGPTL3 via our new
 Human Malady Compendium 
Biological research products
for ANGPTL3
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Angiopoietin-Like 31 2     Angiopoietin 52
ANGPT51 2 3 5     Angiopoietin-Related Protein 32
ANG-52 3     Angiopoietin-53
FHBL22 5     Angiopoietin-Like Protein 33
ANL32     

External Ids:    HGNC: 4911   Entrez Gene: 273292   Ensembl: ENSG000001328557   OMIM: 6047745   UniProtKB: Q9Y5C13   

Export aliases for ANGPTL3 gene to outside databases

Previous GC identifers: GC01P061986 GC01P062420 GC01P062433 GC01P062775 GC01P061175


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ANGPTL3:
This gene encodes a member of a family of secreted proteins that function in angiogenesis. The encoded protein, which
is expressed predominantly in the liver, is further processed into an N-terminal coiled-coil domain-containing chain
and a C-terminal fibrinogen chain. The N-terminal chain is important for lipid metablism, while the C-terminal chain
may be involved in angiogenesis. Mutations in this gene cause familial hypobetalipoproteinemia type 2. (provided by
RefSeq, Feb 2013)

Gene Wiki entry for ANGPTL3


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_032977.9  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ANGPTL3 gene promoter:
         SRF   FOXF2   SRF (504 AA)   HNF-1A   FOXL1   PPAR-gamma1   STAT3   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidANGPTL3 promoter sequence
   Search SABiosciences Chromatin IP Primers for ANGPTL3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ANGPTL3


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

Entrez Gene cytogenetic band: 1p31.3   Ensembl cytogenetic band:  1p31.3   HGNC cytogenetic band: 1p31.3

ANGPTL3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ANGPTL3 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P062998:  view genomic region     (about GC identifiers)

Start:
63,063,158 bp from pter      End:
63,071,830 bp from pter
Size:
8,673 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: ANGL3_HUMAN, Q9Y5C1 (See protein sequence)
Recommended Name: Angiopoietin-related protein 3 precursor  
Size: 460 amino acids; 53637 Da
Subcellular location: Secreted (By similarity)

Explore the universe of human proteins at neXtProt for ANGPTL3: NX_Q9Y5C1

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9Y5C1

  • ANGPTL3 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_055310.1  
    ENSEMBL proteins: 
     ENSP00000360170  

    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    ProSpec Recombinant Protein for ANGPTL3
    Uscn Proteins for ANGPTL3

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space IDA17110602


    ANGPTL3 for ontologies           About GeneDecksing



    ANGPTL3 Antibody Products: 
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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ANGPTL3 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR014715 Fibrinogen_a/b/g_C_2
     IPR002181 Fibrinogen_a/b/g_C_dom
     IPR014716 Fibrinogen_a/b/g_C_1

    Graphical View of Domain Structure for InterPro Entry Q9Y5C1

    ProtoNet protein and cluster: Q9Y5C1

    2 Blocks protein families:
    IPB002017 Spectrin repeat
    IPB002181 Fibrinogen


    UniProtKB/Swiss-Prot: ANGL3_HUMAN, Q9Y5C1
    Similarity: Contains 1 fibrinogen C-terminal domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:
         Genatlas biochemistry entry for ANGPTL3:
    angiopoietin-like 3,predominantly expressed in the liver

    miRNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ANGPTL3

    Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004857enzyme inhibitor activity ISS--
    GO:0004859phospholipase inhibitor activity IDA17110602
    GO:0005178integrin binding IPI11877390
    GO:0008083growth factor activity IDA11877390
    GO:0043498cell surface binding IDA12565906


    ANGPTL3 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for ANGPTL3:
     Decreased influenza A virus in 

    Animal Models:
         Mouse knock-outs for ANGPTL3: Angptl3tm1Kfuj Angptl3tm1Akos Angptl3tm1Lex
         5 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Angptl3):
     adipose tissue  growth/size  homeostasis/metabolism  liver/biliary system  mortality/aging 

    ANGPTL3 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Integrins in angiogenesis
    Integrins in angiogenesis1.00


    1 BioSystems Pathway for ANGPTL3 
        Integrins in angiogenesis


    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ANGPTL3

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    3 Interacting proteins for ANGPTL3 (Q9Y5C13 ENSP000003601704) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ITGAVP067563, ENSP000002610234I2D: score=2 STRING: ENSP00000261023
    ITGA5P086483, ENSP000002933794I2D: score=1 STRING: ENSP00000293379
    ITGB3P051063, ENSP000002620174I2D: score=1 STRING: ENSP00000262017
    About this table

    Gene Ontology (GO): 5/22 biological process terms (GO ID links to tree view) (see all 22):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006071glycerol metabolic process IDA12565906
    GO:0006631fatty acid metabolic process IDA12565906
    GO:0006644phospholipid metabolic process IDA17110602
    GO:0007160cell-matrix adhesion IPI11877390
    GO:0007165signal transduction IDA11877390


    ANGPTL3 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ANGPTL3 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ANGPTL3
    3 Novoseek chemical compound relationships for ANGPTL3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cholesterol 35.1 5 19540497 (2), 17191020 (1), 18804459 (1), 18063851 (1)
    lipid 32.3 11 12909640 (2), 17191020 (1), 18063851 (1), 16717449 (1) (see all 7)
    fibrinogen 17.1 2 15530921 (1), 10644446 (1)

    Search CenterWatch for drugs/clinical trials and news about ANGPTL3 / ANGL3 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ANGPTL3 gene: 
    NM_014495.3  

    Unigene Cluster for ANGPTL3:

    Angiopoietin-like 3
    Hs.209153  [show with all ESTs]
    Unigene Representative Sequence: NM_014495
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000371129(uc001das.1) ENST00000482591 ENST00000493994

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    Inhib. RNA
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ANGPTL3
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ANGPTL3

    Additional cDNA sequence: 

    AF152562.1 AK289426.1 AK315304.1 AY358273.1 BC007059.1 BC058287.1 

    8 DOTS entries:

    DT.99980069  DT.408534  DT.121349588  DT.91768095  DT.100797305  DT.91768091  DT.95157134  DT.100021931 

    24/106 AceView cDNA sequences (see all 106):

    T73442 CR600651 AV647536 AV656268 AV647454 BG617606 AV699707 BX281837 
    BC007059 AW058550 AV649245 AV658636 NM_014495 AI335086 AI498692 BG400407 
    AV653105 AW295829 CB161520 BG562555 AI634858 AI796532 BC058287 AV685476 

    GeneLoc Exon Structure


    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ANGPTL3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ATGAGTGTGG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See ANGPTL3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ANGPTL3

    SOURCE GeneReport for Unigene cluster: Hs.209153

    UniProtKB/Swiss-Prot: ANGL3_HUMAN, Q9Y5C1
    Tissue specificity: Expressed principally in liver. Weakly expressed in kidney

        SABiosciences Expression via Pathway-Focused PCR Arrays including ANGPTL3: 
              Angiogenic Growth Factors in human mouse rat
              Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ANGPTL3

    (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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for ANGPTL3 gene from 2/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves ANGPTL31 angiopoietin-like 3 64.34(n)
    56.21(a)
      100189558  NM_001135122.1  NP_001128594.1 
    zebrafish
    (Danio rerio)
    Actinopterygii angptl32 angiopoietin-like 3 71.67(n)   114421  AF379604.1 


    ENSEMBL Gene Tree for ANGPTL3 (if available)
    TreeFam Gene Tree for ANGPTL3 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ANGPTL3 gene
    FGL22  ANGPT42  FGA2  FGG2  ANGPTL62  ANGPTL22  ANGPTL42  ANGPT12  
    ANGPTL12  ANGPTL72  FGB2  ANGPT22  FGL12  
    4 SIMAP similar genes for ANGPTL3 using alignment to 3 protein entries:     ANGL3_HUMAN (see all proteins):
    FCN3    ANGPTL2    ANGPTL4    ANGPTL7

    ANGPTL3 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/163 NCBI SNPs in ANGPTL3 are shown (see all 163    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2007854831,2
    Cpathogenic102413752(+) TCCTAG/TAAGAA 2 E * stg11Minor allele frequency- T:0.00EU 985
    rs802402231,2
    C,--61173274(+) CTATGA/GAATAC 1 -- us2k10--------
    rs773549491,2
    C,--61173882(+) CTACCC/TGTTTG 1 -- us2k10--------
    rs351234931,2
    C,--61173908(+) AGTGCT/CCTACA 1 -- us2k12Minor allele frequency- C:0.00NA 4
    rs726495701,2
    C,F,--61173912(+) CTCTAC/TATGTA 1 -- us2k11Minor allele frequency- T:0.02NS 370
    rs726495721,2
    F--61174086(+) TTAACA/GATTTC 1 -- us2k11Minor allele frequency- G:0.01NS 282
    rs1165146121,2
    C,F,--61174597(+) CAGAAC/AACAGT 1 -- us2k11Minor allele frequency- A:0.03WA 118
    rs120236291,2
    C,H--61176058(+) ATCTAG/AAACAC 1 -- int16Minor allele frequency- A:0.00NS EA NA 372
    rs1120681321,2
    C,F--61176535(+) AGAAAT/CAGAAA 2 /T /I mis12Minor allele frequency- C:0.00CSA NA 4498
    rs745241181,2
    C,--61176700(+) ACTACC/GTGCAT 1 -- int10--------

    HapMap Linkage Disequilibrium report for ANGPTL3 (63063158 - 63071830 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for ANGPTL3: --
    Human Gene Mutation Database (HGMD): ANGPTL3

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    (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.)
    About This Section

    ANGPTL3 for disorders           About GeneDecksing

    OMIM gene information: 604774   
    OMIM disorders: 605019  
    UniProtKB/Swiss-Prot: ANGL3_HUMAN, Q9Y5C1
  • Defects in ANGPTL3 are the cause of familial hypobetalipoproteinemia type 2 (FHBL2) [MIM:605019]; also called
  • combined hypobetalipoproteinemia familial. FHBL2 is a disorder of lipid metabolism characterized by less than 5th
    percentile age- and sex-specific levels of low density lipoproteins, and dietary fat malabsorption. Affected
    individuals present with combined hypolipidemia, consisting of extremely low plasma levels of LDL cholesterol, HDL
    cholesterol, and triglycerides

    7 diseases for ANGPTL3:    About MalaCards
    hypobetalipoproteinemia, familial, 2    hypobetalipoproteinemia    coronary heart disease    hypertriglyceridemia
    atherosclerosis    cholesterol    hepatitis

    2 diseases from the University of Copenhagen DISEASES database for ANGPTL3:
    Hypobetalipoproteinemia     Abetalipoproteinemia

    1 Novoseek disease relationship for ANGPTL3 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    atherosclerosis 37.1 4 17191020 (1), 18063851 (1), 15530921 (1), 19851103 (1)

    Human Genome Epidemiology (HuGE) Navigator: ANGPTL3 (16 documents)

    Export disorders for ANGPTL3 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)
    About This Section

    PubMed articles for ANGPTL3 gene, integrated from 9 sources (see all 73):
    (articles sorted by number of sources associating them with ANGPTL3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of a mammalian angiopoietin-related protein expressed specifically in liver. (PubMed id 10644446)1, 2, 3, 9 Conklin D.... Lewis K.B. (1999)
    2. Genetic variation in APOB, PCSK9, and ANGPTL3 in carriers of pathogenic autosomal dominant hypercholesterolemic mutations with unexpected low LDL-Cl Levels. (PubMed id 22095935)1, 2 Huijgen R.... Fouchier S.W. (2012)
    3. Exome sequencing, ANGPTL3 mutations, and familial com bined hypolipidemia. (PubMed id 20942659)1, 2 Musunuru K....Kathiresan S. (2010)
    4. Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PubMed id 16335952)1, 2 Liu T.... Smith R.D. (2005)
    5. Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PubMed id 15340161)1, 2 Zhang Z. and Henzel W.J. (2004)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    7. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (2003)
    8. Protein region important for regulation of lipid metabolism in angiopoietin-like 3 (ANGPTL3): ANGPTL3 is cleaved and activated in vivo. (PubMed id 12909640)1, 9 Ono M....Furukawa H. (2003)
    9. Angiopoietin-like protein 3: development, analytical characterization, and clinical testing of a new ELISA. (PubMed id 18063851)1, 9 Stejskal D....Stejskal P. (2007)
    10. Plasma angiopoietin-like protein 3 (ANGPTL3) concentr ation is associated with uremic dyslipidemia. (PubMed id 19540497)1, 9 Shoji T....Nishizawa Y. (2009)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 27329 HGNC: 491 AceView: ANGPTL3 Ensembl:ENSG00000132855 euGenes: HUgn27329
    ECgene: ANGPTL3 H-InvDB: ANGPTL3

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
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    NameDescription
    PharmGKB entry for ANGPTL3 Pharmacogenomics, SNPs, Pathways

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