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VLDLR Gene

protein-coding   GIFtS: 68
GCID: GC09P002611

Very Low Density Lipoprotein Receptor

  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)
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Aliases
Very Low Density Lipoprotein Receptor1 2     CHRMQ12
VLDL-R2 3     VLDLRCH2
VLDL Receptor2 3     Very Low-Density Lipoprotein Receptor2
CARMQ12 5     

External Ids:    HGNC: 126981   Entrez Gene: 74362   Ensembl: ENSG000001478527   OMIM: 1929775   UniProtKB: P981553   

Export aliases for VLDLR gene to outside databases

Previous GC identifers: GC09P002776 GC09P002603 GC09P002612


(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 VLDLR Gene:
The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in
receptor-mediated endocytosis of specific ligands. This gene encodes a lipoprotein receptor that is a member of
the LDLR family and plays important roles in VLDL-triglyceride metabolism and the reelin signaling pathway.
Mutations in this gene cause VLDLR-associated cerebellar hypoplasia. Alternative splicing generates multiple
transcript variants encoding distinct isoforms for this gene. (provided by RefSeq, Aug 2009)

GeneCards Summary for VLDLR Gene:
VLDLR (very low density lipoprotein receptor) is a protein-coding gene. Diseases associated with VLDLR include dysequilibrium syndrome, and cerebellar hypoplasia. GO annotations related to this gene include glycoprotein binding and calcium ion binding. An important paralog of this gene is LRP6.

UniProtKB/Swiss-Prot: VLDLR_HUMAN, P98155
Function: Binds VLDL and transports it into cells by endocytosis. In order to be internalized, the receptor-ligand
complexes must first cluster into clathrin-coated pits. Binding to Reelin induces tyrosine phosphorylation of
Dab1 and modulation of Tau phosphorylation (By similarity)

Gene Wiki entry for VLDLR (VLDL receptor) 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:
NC_000009.12  NT_008413.19  NC_018920.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the VLDLR gene promoter:
         USF1   ISGF-3   AML1a   NCX/Ncx   FosB   AP-2gamma   Arnt   S8   HSF2   USF-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): VLDLR promoter sequence
   Search Chromatin IP Primers for VLDLR

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


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

Entrez Gene cytogenetic band: 9p24   Ensembl cytogenetic band:  9p24.2   HGNC cytogenetic band: 9p24

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

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P002611:  view genomic region     (about GC identifiers)

Start:
2,621,793 bp from pter      End:
2,660,053 bp from pter
Size:
38,261 bases      Orientation:
plus 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, 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., 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: VLDLR_HUMAN, P98155 (See protein sequence)
Recommended Name: Very low-density lipoprotein receptor precursor  
Size: 873 amino acids; 96098 Da
Subunit: Binds to the extracellular matrix protein Reelin. Interacts with VLDLR. Interacts with SNX17 (By
similarity). Interacts with DAB1. Receptor for the minor-group human rhinoviruses (HRVs); binds protein VP1
through the second and third LDL-receptor class A domains. Interacts with PCSK9
2 PDB 3D structures from and Proteopedia for VLDLR:
1V9U (3D)        3DPR (3D)    
Secondary accessions: B2RMZ7 D3DRH6 Q5VVF6
Alternative splicing: 2 isoforms:  P98155-1   P98155-2   

Explore the universe of human proteins at neXtProt for VLDLR: NX_P98155

Explore proteomics data for VLDLR at MOPED

Post-translational modifications: 

  • Ubiquitinated at Lys-839 by MYLIP leading to degradation1
  • Ubiquitination2 at Lys828, Lys839
  • Glycosylation2 at Thr71, Asn151, Thr277, Asn765, Asn781
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins (2 alternative transcripts): 
    NP_001018066.1  NP_003374.3  

    ENSEMBL proteins: 
     ENSP00000371532   ENSP00000371528   ENSP00000371531  

    VLDLR Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for VLDLR
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    Sino Biological Cell Lysate for VLDLR
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    Cloud-Clone Corp. Proteins for VLDLR

    VLDLR Antibody Products:

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    Novus Biologicals VLDLR Antibodies
    Abcam antibodies for VLDLR
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    VLDLR Assay Products:

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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for VLDLR
    Cloud-Clone Corp. CLIAs for VLDLR


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    LDLR: Low density lipoprotein receptors

    Selected InterPro protein domains (see all 9):
     IPR000033 LDLR_classB_rpt
     IPR023415 LDLR_class-A_CS
     IPR000742 EG-like_dom
     IPR000152 EGF-type_Asp/Asn_hydroxyl_site
     IPR018097 EGF_Ca-bd_CS

    Graphical View of Domain Structure for InterPro Entry P98155

    ProtoNet protein and cluster: P98155

    4 Blocks protein domains:
    IPB000033 Low-density lipoprotein receptor
    IPB000152 Aspartic acid and asparagine hydroxylation site
    IPB001881 EGF-like calcium-binding
    IPB002172 Low density lipoprotein-receptor


    UniProtKB/Swiss-Prot: VLDLR_HUMAN, P98155
    Similarity: Contains 3 EGF-like domains
    Similarity: Contains 8 LDL-receptor class A domains
    Similarity: Contains 6 LDL-receptor class B repeats


    VLDLR 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: VLDLR_HUMAN, P98155
    Function: Binds VLDL and transports it into cells by endocytosis. In order to be internalized, the receptor-ligand
    complexes must first cluster into clathrin-coated pits. Binding to Reelin induces tyrosine phosphorylation of
    Dab1 and modulation of Tau phosphorylation (By similarity)

         Genatlas biochemistry entry for VLDLR:
    very low density lipoprotein/ApoE receptor,containing a CGG repeat in 5'utr,(may be a susceptibility gene for late
    onset senile Alzheimer disease)

         Gene Ontology (GO): Selected molecular function terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001948glycoprotein binding IPI10571240
    GO:0005041low-density lipoprotein receptor activity TAS10380922
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding IPI8083232
    GO:0030229very-low-density lipoprotein particle receptor activity IDA8083232
         
    VLDLR for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for VLDLR:
     Decreased viability 

         10 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Vldlr):
     adipose tissue  behavior/neurological  cardiovascular system  cellular  growth/size/body 
     homeostasis/metabolism  mortality/aging  nervous system  pigmentation  vision/eye 

    VLDLR for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Vldlrtm1Her for VLDLR

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

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

    miRNA
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    miRTarBase miRNAs that target VLDLR:
    hsa-mir-130b-3p (MIRT020261), hsa-mir-93-5p (MIRT028137), hsa-mir-335-5p (MIRT018291)

    Block miRNA regulation of human, mouse, rat VLDLR using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate VLDLR (see all 42):
    hsa-miR-520e hsa-miR-302d hsa-miR-520f hsa-miR-429 hsa-miR-106a hsa-let-7a-2* hsa-miR-3138 hsa-miR-372
    SwitchGear 3'UTR luciferase reporter plasmidVLDLR 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for VLDLR
    Predesigned siRNA for gene silencing in human, mouse, rat VLDLR

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 2): VLDLR (NM_003383)
    Sino Biological Human cDNA Clone for VLDLR
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat VLDLR

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    ESI BIO PureStem Progenitor for VLDLR: 
    PureStem Z11, Meso Progenitor
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for VLDLR


    (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
    VLDLR_HUMAN, P98155: Membrane; Single-pass type I membrane protein. Membrane, clathrin-coated pit; Single-pass
    type I membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    extracellular3
    peroxisome2
    cytoskeleton1
    endoplasmic reticulum1
    mitochondrion1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space ----
    GO:0005886plasma membrane TAS10380922
    GO:0005905coated pit IEA--
    GO:0016020membrane IDA15082773
    GO:0016021integral component of membrane IEA--

    VLDLR for ontologies           About GeneDecksing


    (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 VLDLR About    
    See pathways by source

    SuperPathContained pathways About
    1Reelin signaling pathway
    Reelin signaling pathway
    2Reelin Pathway (Cajal-Retzius cells)
    Reelin Pathway (Cajal-Retzius cells)
    3Lissencephaly gene (LIS1) in neuronal migration and development
    Lissencephaly gene (LIS1) in neuronal migration and development
    4Guidance Cues and Growth Cone Motility
    Guidance Cues and Growth Cone Motility

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for VLDLR
        Guidance Cues and Growth Cone Motility
    Reelin Pathway (Cajal-Retzius cells)

    2 BioSystems Pathways for VLDLR
        Lissencephaly gene (LIS1) in neuronal migration and development
    Reelin signaling pathway



        Pathway & Disease-focused RT2 Profiler PCR Arrays including VLDLR: 
              Insulin Resistance in human mouse rat
              Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for VLDLR

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

    Selected Interacting proteins for VLDLR (P981551, 3 ENSP000003715324) via UniProtKB, MINT, STRING, and/or I2D (see all 29)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    LRPAP1P305331, 3EBI-9004309,EBI-715927 I2D: score=2 
    SNX17Q150363, ENSP000002335754I2D: score=3 STRING: ENSP00000233575
    LPLP068583, ENSP000003097574I2D: score=2 STRING: ENSP00000309757
    RELNP785093, ENSP000003924234I2D: score=2 STRING: ENSP00000392423
    APOEP026493, ENSP000002524864I2D: score=1 STRING: ENSP00000252486
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter ISS--
    GO:0006869lipid transport IEA--
    GO:0006898receptor-mediated endocytosis IDA10571240
    GO:0007165signal transduction TAS10380922
    GO:0007399nervous system development TAS10380922

    VLDLR for ontologies           About GeneDecksing



    (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 VLDLR

    Selected Novoseek inferred chemical compound relationships for VLDLR gene (see all 11)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lipid 39.3 17 10488949 (2), 15863833 (2), 9410893 (1), 9409253 (1) (see all 10)
    cholesterol 38.7 17 11839845 (3), 20030366 (1), 15010349 (1), 17685481 (1) (see all 12)
    fatty acid 20 3 16957181 (1), 9264123 (1), 19874644 (1)
    sterol 15.8 3 7828550 (1), 10488949 (1)
    triacylglycerol 6.01 3 7925422 (1), 12840916 (1)
    serine 4.67 4 10085143 (1), 9346278 (1), 9346319 (1)
    phosphoinositide 0 1 15883038 (1)
    phospholipid 0 1 8409765 (1)
    tyrosine 0 2 11854295 (1), 15883038 (1)
    creatinine 0 1 16384981 (1)



    VLDLR for compounds           About GeneDecksing



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for VLDLR gene (2 alternative transcripts): 
    NM_001018056.1  NM_003383.3  

    Unigene Cluster for VLDLR:

    Very low density lipoprotein receptor
    Hs.370422  [show with all ESTs]
    Unigene Representative Sequence: L20470
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000382100(uc003zhk.1 uc003zhl.1 uc003zhm.1) ENST00000382096
    ENST00000382099 ENST00000478776
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate VLDLR (see all 42):
    hsa-miR-520e hsa-miR-302d hsa-miR-520f hsa-miR-429 hsa-miR-106a hsa-let-7a-2* hsa-miR-3138 hsa-miR-372
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      QuantiFast Probe-based Assays in human, mouse, rat VLDLR

    Additional mRNA sequence: 

    AB208822.1 AK092381.1 AK095744.1 AK289527.1 BC136562.1 BC142653.1 BC144245.1 D16493.1 
    D16494.1 L20470.1 L22431.1 S73849.1 

    11 DOTS entries:

    DT.95162785  DT.445283  DT.95162788  DT.121199610  DT.95162786  DT.100783166  DT.40202618  DT.92007717 
    DT.445284  DT.95162789  DT.121199462 

    Selected AceView cDNA sequences (see all 110):

    AA758887 AA357050 BM810111 BX508834 BE742166 BU634296 CR620590 CN479223 
    BM558836 AA461614 BU677670 BM987917 BU633666 D16493 BE348247 AU125996 
    AU132660 AX747508 CR599863 T07960 AU130860 D16494 BE733087 AK092381 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for VLDLR (see all 9)    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15a · 15b ^ 16a · 16b ·
    SP1:                                      -                                                                             -     -                                 
    SP2:                                      -                                                                                                                     
    SP3:                                                                                                                                                            
    SP4:                                                                                                                          -                                 
    SP5:                                                                                                                          -                                 

    ExUns: 16c
    SP1:      
    SP2:      
    SP3:      
    SP4:      
    SP5:      


    ECgene alternative splicing isoforms for VLDLR

    (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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    VLDLR expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AACTTTGACA
    VLDLR Expression
    About this image


    VLDLR expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 10) fully expand
     
     Neural Tube (Nervous System)    fully expand to see all 4 entries
             Metencephalon
     
     Kidney (Urinary System)    fully expand to see all 3 entries
             Collecting Duct Cells Renal Collecting Duct System
             Metanephros
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Midbrain tegmentum
     
     Epithelial Cells
             Collecting Duct Cells Renal Collecting Duct System
     
     NULL (Uncategorized)
             Definitive endoderm-like cells
    VLDLR Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    VLDLR Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.370422

    UniProtKB/Swiss-Prot: VLDLR_HUMAN, P98155
    Tissue specificity: Abundant in heart and skeletal muscle; also ovary and kidney; not in liver

        Pathway & Disease-focused RT2 Profiler PCR Arrays including VLDLR: 
              Insulin Resistance in human mouse rat
              Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for VLDLR
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat VLDLR
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for VLDLR

    (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 animals.

    Orthologs for VLDLR gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Vldlr1 , 5 very low density lipoprotein receptor1, 5 90.95(n)1
    95.99(a)1
      19 (21.77 cM)5
    223591  NM_013703.21  NP_038731.21 
     272164845 
    chicken
    (Gallus gallus)
    Aves VLDLR1 very low density lipoprotein receptor 79.1(n)
    84.29(a)
      396154  NM_205229.1  NP_990560.1 
    lizard
    (Anolis carolinensis)
    Reptilia VLDLR6
    very low density lipoprotein receptor
    71(a)
    1 ↔ 1
    2(51121721-51153032)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.9982 Xenopus laevis mRNA for vitellogenin receptor, complete cds less 78.08(n)    AB006906.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc557922 similar to very low density lipoprotein receptor 75.63(n)   393897  BC047187.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG48613
    LpR11
    low-density lipoprotein receptor3
    Lipophorin receptor 11
    40(a)3
    51.1(n)1
    44.85(a)1
      27686871  NM_001276045.11  NP_001262974.11 
    worm
    (Caenorhabditis elegans)
    Secernentea R01H2.33
    T13C2.61
    T13C2.61 38(a)
    (best of 2)3
    50.53(n)1
    40.26(a)1
      III(7130392-7132330)3
    1741161  NM_182223.41  NP_872023.21 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for VLDLR gene
    LRP62  LRP52  LRP22  LRP1B2  EGF2  LDLR2  LRP5L2  LRP42  
    NID12  NID22  LRP82  LRP12  
    17 SIMAP similar genes for VLDLR using alignment to 3 protein entries:     VLDLR_HUMAN (see all proteins):
    ldlr    PROS1    LDLR    LRP8    LRP4    LRP5L
    LRP1B    LDLRAD3    LRP1    SORL1    LRP10    CORIN
    LRP6    DIET1    LRP2    MALRD1    HSPG2

    VLDLR for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for VLDLR
    PGOHUM00000246154


    (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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    Selected SNPs for VLDLR (see all 1108)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs803389071,2
    Cpathogenic12638838(+) AGTGGC/TGATGT 4 R * stg10--------
    rs803389051,2
    Cpathogenic12640962(+) CTAATA/C/TGAAGA 4 R * stg11NA 4552
    rs109672021,2
    C,F,H--2615228(+) ACACGT/CTTTTC 2 -- us2k18Minor allele frequency- C:0.02NS EA NA 880
    rs1173863411,2
    F--2615238(+) CAAAGT/CTAAGT 2 -- us2k11Minor allele frequency- C:0.01NA 120
    rs120570801,2
    C,F,H--2615273(+) GCTTGT/AAGTAT 2 -- us2k110Minor allele frequency- A:0.15NS EA NA 718
    rs357925301,2
    F--2615288(+) GTATCT/CCTGAG 2 -- us2k12Minor allele frequency- C:0.11NS 92
    rs766428911,2
    --2615465(+) TCACAC/TCTCAA 2 -- us2k10--------
    rs1390700661,2
    --2615491(+) AACACC/TGGCAT 2 -- us2k10--------
    rs1422670621,2
    --2615492(+) ACACCA/GGCATG 2 -- us2k10--------
    rs1880871691,2
    --2615517(+) AATGTC/TATACA 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for VLDLR (2621793 - 2660053 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for VLDLR:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv892071CNV Loss21882294
    nsv892072CNV Loss21882294
    nsv892075CNV Loss21882294
    nsv527298CNV Loss19592680
    nsv892074CNV Loss21882294
    nsv824819CNV Gain20364138
    nsv892069CNV Gain21882294
    nsv892076CNV Gain21882294
    nsv892073CNV Gain21882294
    nsv892070CNV Gain21882294

    Human Gene Mutation Database (HGMD): VLDLR
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing VLDLR
    DNA2.0 Custom Variant and Variant Library Synthesis for VLDLR

    (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: 192977   
    OMIM disorders: 224050  
    UniProtKB/Swiss-Prot: VLDLR_HUMAN, P98155
  • Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 (CAMRQ1) [MIM:224050]: A congenital,
    non-progressive cerebellar ataxia associated with disturbed equilibrium, delayed ambulation, mental retardation,
    cerebellar hypoplasia and mild cerebral gyral simplification. Additional features include short stature,
    strabismus, pes planus and, rarely, seizures. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • Selected diseases for VLDLR (see all 38):    
    About MalaCards
    dysequilibrium syndrome    cerebellar hypoplasia    vldlr-associated cerebellar hypoplasia    cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1
    focal glomerulosclerosis    carotid artery disease    common cold    pontocerebellar hypoplasia
    hypertriglyceridemia    strabismus    inclusion body myositis    lissencephaly
    age related macular degeneration    myositis    cerebellar ataxia    gastric adenocarcinoma
    cerebral palsy    alzheimer's disease    short stature    dementia

    1 disease from the University of Copenhagen DISEASES database for VLDLR:
    Lissencephaly

    VLDLR for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for VLDLR gene (see all 15)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cerebellar hypoplasia 70.3 2 18043714 (1), 18364738 (1)
    alzheimers disease 47.6 13 8786409 (2), 9562467 (2), 8761993 (2), 9577654 (1) (see all 9)
    hypertriglyceridemia 38.3 2 16478678 (1), 11790777 (1)
    senile plaques 33.3 3 8786409 (2), 11743951 (1)
    atherosclerosis 28.8 4 19224153 (1), 8669483 (1), 11254915 (1)
    adenocarcinoma gastric 14.4 3 10629142 (2), 15884130 (1)
    autistic 8.23 2 15820235 (1), 12363388 (1)
    tumors 2.92 2 16715143 (1), 10629142 (1)
    breast carcinoma 0 2 7657671 (1), 9346319 (1)
    schizophrenia 0 9 15098360 (3), 12363388 (3), 17936586 (2), 17261317 (1)

    GeneTests: VLDLR
    GeneReviews: VLDLR
    Genetic Association Database (GAD): VLDLR
    Human Genome Epidemiology (HuGE) Navigator: VLDLR (15 documents)

    Export disorders for VLDLR 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 VLDLR gene, integrated from 10 sources (see all 226):
    (articles sorted by number of sources associating them with VLDLR)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Structure, chromosome location, and expression of the human very low density lipoprotein receptor gene. (PubMed id 8294473)1, 2, 3, 9 Sakai J.... Yamamoto T. (J. Biol. Chem. 1994)
    2. Human very-low-density lipoprotein receptor complementary DNA and deduced amino acid sequence and localization of its gene (VLDLR) to chromosome band 9p24 by fluorescence in situ hybridization. (PubMed id 8020981)1, 2, 9 Oka K.... Chan L. (Genomics 1994)
    3. The proprotein convertase PCSK9 induces the degradation of low density lipoprotein receptor (LDLR) and its closest family members VLDLR and ApoER2. (PubMed id 18039658)1, 2, 9 Poirier S.... Seidah N.G. (J. Biol. Chem. 2008)
    4. A common VLDLR polymorphism interacts with APOE genotype in the prediction of carotid artery disease risk. (PubMed id 18056683)1, 4, 9 Crawford D.C....Jarvik G.P. (J. Lipid Res. 2008)
    5. Functional candidate genes in age-related macular degeneration: significant association with VEGF, VLDLR, and LRP6. (PubMed id 16384981)1, 4, 9 Haines J.L....Pericak-Vance M.A. (amp 2006)
    6. Association of polymorphisms in CYP17A1, MTP, and VLDLR with bone mineral density in community-dwelling Japanese women and men. (PubMed id 15953542)1, 4, 9 Yamada Y....Shimokata H. (Genomics 2005)
    7. A cellular receptor of human rhinovirus type 2, the very-low-density lipoprotein receptor, binds to two neighboring proteins of the viral capsid. (PubMed id 12857919)1, 2, 9 Neumann E.... Hewat E.A. (J. Virol. 2003)
    8. The relationship among apolipoprotein(a) polymorphisms, the low-density lipoprotein receptor-related protein, and the very low density lipoprotein receptor genes, and plasma lipoprotein(A) concentration in the Czech population. (PubMed id 11931574)1, 4, 9 Benes P....VA!cha J. (Hum. Biol. 2002)
    9. Association analysis of polymorphic CGG repeat in 5' UTR of the reelin and VLDLR genes with schizophrenia. (PubMed id 12363388)1, 4, 9 Akahane A....Nanko S. (Schizophr. Res. 2002)
    10. VLDL receptor polymorphism, cognitive impairment, and dementia. (PubMed id 11342683)1, 4, 9 Helbecque N....Amouyel P. (Neurology 2001)

    (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: 7436 HGNC: 12698 AceView: VLDLR Ensembl:ENSG00000147852 euGenes: HUgn7436
    ECgene: VLDLR H-InvDB: VLDLR

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for VLDLR Pharmacogenomics, SNPs, Pathways
    SeattleSNPshttp://pga.gs.washington.edu/data/vldlr/

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

    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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