Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

ANGPTL3 Gene

protein-coding   GIFtS: 61
GCID: GC01P062998

Angiopoietin-Like 3


(Previous symbol: ANGPT5)
  See 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)
About This Section

Aliases
Angiopoietin-Like 31 2     ANL32
ANGPT51 2 3 5     Angiopoietin-Related Protein 32
Angiopoietin 51 2     Angiopoietin-53
ANG-52 3     Angiopoietin-Like Protein 33
FHBL22 5     

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 Gene:
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)

GeneCards Summary for ANGPTL3 Gene: 
ANGPTL3 (angiopoietin-like 3) is a protein-coding gene. Diseases associated with ANGPTL3 include hypobetalipoproteinemia, familial, 2, and hypobetalipoproteinemia. GO annotations related to this gene include enzyme inhibitor activity and growth factor activity. An important paralog of this gene is TNR.

Gene Wiki entry for ANGPTL3 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.2  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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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
Subunit: Interacts with C19orf80/ANGPTL8
Subcellular location: Secreted (By similarity)

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

Explore proteomics data for ANGPTL3 at MOPED 

Post-translational modifications:

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

  • ANGPTL3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ANGPTL3 Protein Expression
    REFSEQ proteins: NP_055310.1  
    ENSEMBL proteins: 
     ENSP00000360170  

    Human Recombinant Protein Products for ANGPTL3: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for ANGPTL3 (Angiopoietin-like Protein 3/ANGPTL3)
    Enzo Life Sciences proteins for ANGPTL3
    OriGene Purified Protein for ANGPTL3
    OriGene Protein Over-expression Lysate for ANGPTL3
    OriGene MassSpec for ANGPTL3 
    OriGene Custom Protein Services for ANGPTL3
    GenScript Custom Purified and Recombinant Proteins Services for ANGPTL3
    Novus Biologicals ANGPTL3 Proteins
    Novus Biologicals ANGPTL3 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for ANGPTL3
    Cloud-Clone Corp. Proteins for ANGPTL3 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space IDA17110602
    GO:0009986cell surface IDA12565906

    ANGPTL3 for ontologies           About GeneDecksing



    ANGPTL3 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    R&D Systems Antibodies for ANGPTL3 (Angiopoietin-like Protein 3/ANGPTL3)
    OriGene Antibodies for ANGPTL3
    OriGene Custom Antibody Services for ANGPTL3
    GenScript Custom Superior Antibodies Services for ANGPTL3
    Novus Biologicals ANGPTL3 Antibodies
    Abcam antibodies for ANGPTL3
    Cloud-Clone Corp. Antibodies for ANGPTL3 
    ThermoFisher Antibodies for ANGPTL3
    LSBio Antibodies in human, mouse, rat for ANGPTL3 

    Assay Products for ANGPTL3: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for ANGPTL3
    R&D Systems ELISAs for ANGPTL3 (Angiopoietin-like Protein 3/ANGPTL3)
    GenScript Custom Assay Services for ANGPTL3
    Enzo Life Sciences assays for ANGPTL3
    Cloud-Clone Corp. ELISAs for ANGPTL3 
    Cloud-Clone Corp. CLIAs for ANGPTL3


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    FIBC: Fibrinogen C domain containing

    3 InterPro protein domains:
     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 domains:
    IPB002017 Spectrin repeat
    IPB002181 Fibrinogen


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


    ANGPTL3 for domains           About GeneDecksing


    (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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

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

         Gene Ontology (GO): 4 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
         
    ANGPTL3 for ontologies           About GeneDecksing


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

         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

    Animal Models:
         MGI mouse knock-outs for ANGPTL3: Angptl3tm1Kfuj Angptl3tm1Akos Angptl3tm1Lex

       inGenious Targeting Laboratory - Custom generated mouse model solutions for ANGPTL3 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ANGPTL3

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ANGPTL3 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ANGPTL3 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ANGPTL3
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate ANGPTL3
    SwitchGear 3'UTR luciferase reporter plasmidANGPTL3 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for ANGPTL3
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ANGPTL3

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ANGPTL3
    Sirion Biotech Customized adenovirus for overexpression of ANGPTL3

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for ANGPTL3 (see all 7)
    OriGene ORF clones in mouse, rat for ANGPTL3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: ANGPTL3 (NM_014495)
    Sino Biological Human cDNA Clone for ANGPTL3
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ANGPTL3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ANGPTL3
    Sirion Biotech Customized lentivirus for stable overexpression of ANGPTL3 
                         Customized lentivirus expression plasmids for stable overexpression of ANGPTL3 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for ANGPTL3
    Search LifeMap BioReagents cell lines for ANGPTL3
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ANGPTL3


    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ANGPTL3 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Integrins in angiogenesis
    Integrins in angiogenesis


    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)

    4 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
    ITGB3P051063I2D: score=1 
    --ENSP000002620174STRING: ENSP00000262017
    About this table

    Gene Ontology (GO): 5/21 biological process terms (GO ID links to tree view) (see all 21):    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, Ligands according to IUPHAR, 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 (ANGL3)

    3 Novoseek inferred 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 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,
    Conferences by KenesGroup, 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, Sirion Biotech, 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
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ANGPTL3
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate ANGPTL3
    SwitchGear 3'UTR luciferase reporter plasmidANGPTL3 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for ANGPTL3
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ANGPTL3
    Clone
    Products:
         
    OriGene clones in human, mouse for ANGPTL3 (see all 7)
    OriGene ORF clones in mouse, rat for ANGPTL3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: ANGPTL3 (NM_014495)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ANGPTL3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ANGPTL3
    Sirion Biotech Customized lentivirus for stable overexpression of ANGPTL3 
                         Customized lentivirus expression plasmids for stable overexpression of ANGPTL3 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for ANGPTL3
    OriGene qSTAR qPCR primer pairs in human, mouse for ANGPTL3
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ANGPTL3
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ANGPTL3
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ANGPTL3

    Additional mRNA 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 AI498692 AV653105 BG568698 CB161520 BX281837 AV685476 AI335086 
    AV647536 BG617606 AW295829 AV654145 CR600651 AW058550 BC058287 AI634858 
    AV647454 NM_014495 AI796532 AV649245 AV656268 BG562555 BC007059 AV699707 

    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 <intensity>2/3
    CGAP TAG: ATGAGTGTGG
    ANGPTL3 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

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for ANGPTL3
    OriGene qSTAR qPCR primer pairs in human, mouse for ANGPTL3
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ANGPTL3
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ANGPTL3
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ANGPTL3
    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 4/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Angptl31 , 5 angiopoietin-like 31, 5 80.4(n)1
    76.65(a)1
      4 (45.60 cM)5
    309241  NM_013913.31  NP_038941.11 
     990309545 
    chicken
    (Gallus gallus)
    Aves ANGPTL31 angiopoietin-like 3 64.34(n)
    56.21(a)
      100189558  NM_001135122.1  NP_001128594.1 
    lizard
    (Anolis carolinensis)
    Reptilia ANGPTL36
    angiopoietin-like 3
    52(a)
    1 ↔ 1
    4(99869717-99882171)
    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
    TNR2  FGG2  FGA2  ANGPTL42  TNXB2  TNN2  FGB2  ANGPTL52  
    TNC2  FGL12  FN12  
    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, 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) 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

    3 SNPs in ANGPTL3 are shown    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2007854831,2
    Cpathogenic163139812(+) TCCTAG/TAAGAA 2 E * stg11Minor allele frequency- T:0.00EU 985
    VAR_0490714
    ----see VAR_0490712 N Y mis40--------
    VAR_0672834
    ----see VAR_0672832 L F mis40--------

    HapMap Linkage Disequilibrium report for ANGPTL3 (63063158 - 63071830 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for ANGPTL3:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv870559CNV Loss21882294


    Human Gene Mutation Database (HGMD): ANGPTL3
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing ANGPTL3
    DNA2.0 Custom Variant and Variant Library Synthesis for ANGPTL3

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 604774   
    OMIM disorders: 605019  
    UniProtKB/Swiss-Prot: ANGL3_HUMAN, Q9Y5C1
  • Familial hypobetalipoproteinemia 2 (FHBL2) [MIM:605019]: 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. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 11 diseases for ANGPTL3:    About MalaCards
    hypobetalipoproteinemia, familial, 2    hypobetalipoproteinemia    abetalipoproteinemia    hypertriglyceridemia
    atherosclerosis    coronary heart disease    fatty liver disease    endotheliitis
    liver disease    thyroiditis    hepatitis

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

    ANGPTL3 for disorders           About GeneDecksing

    1 Novoseek inferred 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)

    Genetic Association Database (GAD): ANGPTL3
    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 79):
    (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. Evaluating the discriminative power of multi-trait ge netic risk scores for type 2 diabetes in a northern Swedish population. (PubMed id 20571754)1, 4 Fontaine-Bisson B....Franks P.W. (2010)
    4. Common genetic variation in multiple metabolic pathwa ys influences susceptibility to low HDL-cholesterol and coronary heart disease. (PubMed id 20855565)1, 4 Peloso G.M....Brousseau M.E. (2010)
    5. Common inherited variation in mitochondrial genes is not enriched for associations with type 2 diabetes or related glycemic traits. (PubMed id 20714348)1, 4 SegrA" A.V....Altshuler D. (2010)
    6. Fine-mapping in African Americans of 8 recently disco vered genetic loci for plasma lipids: the Jackson Heart Study. (PubMed id 20570916)1, 4 Keebler M.E....Kathiresan S. (2010)
    7. Investigation of variants identified in caucasian gen ome-wide association studies for plasma high-density lipoprotein cholesterol an d triglycerides levels in Mexican dyslipidemic study samples. (PubMed id 20160193)1, 4 Weissglas-Volkov D....Pajukanta P. (2010)
    8. Exome sequencing, ANGPTL3 mutations, and familial com bined hypolipidemia. (PubMed id 20942659)1, 2 Musunuru K....Kathiresan S. (2010)
    9. Common variants at 30 loci contribute to polygenic dyslipidemia. (PubMed id 19060906)1, 4 Kathiresan S....Cupples L.A. (2009)
    10. A polygenic basis for four classical Fredrickson hype rlipoproteinemia phenotypes that are characterized by hypertriglyceridemia. (PubMed id 19656773)1, 4 Hegele R.A....Wang J. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 27329 HGNC: 491 AceView: ANGPTL3 Ensembl:ENSG00000132855 euGenes: HUgn27329
    ECgene: ANGPTL3 H-InvDB: ANGPTL3

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ANGPTL3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ANGPTL3 gene:
    Search GeneIP for patents involving ANGPTL3

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Antibodies for ANGPTL3 (Angiopoietin-like Protein 3/ANGPTL3)   Browse Cell Culture Products  
     ELISAs for ANGPTL3 (Angiopoietin-like Protein 3/ANGPTL3)   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Protease Activity Assays and Reagents   Recombinant/Natural Proteins for ANGPTL3 (Angiopoietin-like Protein 3/ANGPTL3)  
     Browse Stem Cell Products   Browse Tocris Biochemicals & Compounds  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for ANGPTL3   OriGene RNAi products in human, mouse, rat for ANGPTL3  
     OriGene qPCR primer pairs and template standards for ANGPTL3   OriGene Protein Over-expression Lysate for ANGPTL3  
     OriGene MassSpec something-or-other for ANGPTL3   OriGene clones in human, mouse for ANGPTL3  
     OriGene qSTAR qPCR primer pairs in human, mouse for ANGPTL3   OriGene Purified Protein for ANGPTL3  
     OriGene ORF clones in mouse, rat for ANGPTL3   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for ANGPTL3   OriGene Custom Protein Services for ANGPTL3  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat ANGPTL3
     QIAGEN SeqTarget long-range PCR primers for resequencing ANGPTL3
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ANGPTL3
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ANGPTL3
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ANGPTL3
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ANGPTL3
     GenScript Custom Purified and Recombinant Proteins Services for ANGPTL3 GenScript cDNA clones with any tag delivered in your preferred vector for ANGPTL3
     GenScript Custom Assay Services for ANGPTL3 GenScript Custom Superior Antibodies Services for ANGPTL3
     GenScript Custom overexpressing Cell Line Services for ANGPTL3 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in ANGPTL3 promoter
     Search Chromatin IP Primers for ANGPTL3
     RT2 qPCR Primer Assay in human, mouse, rat ANGPTL3
     GNC Network for ANGPTL3
     SABiosciences PCR Arrays including human, mouse, rat ANGPTL3
     Search Tocris compounds for ANGPTL3 (ANGL3)
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological Cell Lysates
     cDNA Clones for ANGPTL3
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Assays/Proteins for ANGPTL3
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     ANGPTL3 antibodies
     ANGPTL3 proteins
     ANGPTL3 lysates
     Antibodies for ANGPTL3
     See all of Abcam's Antibodies, Kits and Proteins for ANGPTL3
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Recombinant Protein for ANGPTL3




     Proteins for ANGPTL3
     Antibodies for ANGPTL3
     ELISAs for ANGPTL3
     CLIAs for ANGPTL3
     Search LifeMap BioReagents cell lines for ANGPTL3
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ANGPTL3
     SwitchGear 3'UTR luciferase reporter plasmids for ANGPTL3
     SwitchGear Promoter luciferase reporter plasmids for ANGPTL3
     ThermoFisher Antibodies for ANGPTL3
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ANGPTL3
     inGenious Targeting Laboratory - Custom generated mouse model solutions for ANGPTL3
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ANGPTL3
    Customized:
     lentivirus for stable overexpression of ANGPTL3
     lentivirus expression plasmids for stable overexpression of ANGPTL3
     adenovirus for overexpression of ANGPTL3
     LSBio Antibodies in human, mouse, rat for ANGPTL3
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      ANGPTL3 gene at Home site.
    hostname: 356980-web2.xennexinc.com index build: 106 solr: 1.4