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

LRP5 Gene

protein-coding   GIFtS: 66
GCID: GC11P068080

Low Density Lipoprotein Receptor-Related Protein 5

(Previous names: osteoporosis pseudoglioma syndrome, exudative vitreoretinopathy...)
(Previous symbols: LRP7, OPPG, EVR1)
  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
Low Density Lipoprotein Receptor-Related Protein 51 2     OPTA12 5
LRP71 2 3 5     VBCH22 5
OPPG1 2 5     Exudative Vitreoretinopathy 11
LR32 3 5     Osteoporosis Pseudoglioma Syndrome1
EVR11 2     HBM2
LRP-52 3     OPS2
BMND12 5     Low Density Lipoprotein Receptor-Related Protein 72
EVR42 5     Low-Density Lipoprotein Receptor-Related Protein 52

External Ids:    HGNC: 66971   Entrez Gene: 40412   Ensembl: ENSG000001623377   OMIM: 6035065   UniProtKB: O751973   

Export aliases for LRP5 gene to outside databases

Previous GC identifers: GC11P070603 GC11P069776 GC11P068330 GC11P067855 GC11P067836 GC11P064451


(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 LRP5 Gene:
This gene encodes a transmembrane low-density lipoprotein receptor that binds and internalizes ligands in the
process of receptor-mediated endocytosis. This protein also acts as a co-receptor with Frizzled protein family
members for transducing signals by Wnt proteins and was originally cloned on the basis of its association with
type 1 diabetes mellitus in humans. This protein plays a key role in skeletal homeostasis and many bone density
related diseases are caused by mutations in this gene. Mutations in this gene also cause familial exudative
vitreoretinopathy. (provided by RefSeq, Nov 2009)

GeneCards Summary for LRP5 Gene: 
LRP5 (low density lipoprotein receptor-related protein 5) is a protein-coding gene. Diseases associated with LRP5 include osteoporosis-pseudoglioma syndrome, and bone density, and among its related super-pathways are Wnt signaling pathway and Wnt Signaling Pathway. GO annotations related to this gene include Wnt-activated receptor activity and Wnt-protein binding. An important paralog of this gene is LRP6.

UniProtKB/Swiss-Prot: LRP5_HUMAN, O75197
Function: Component of the Wnt-Fzd-LRP5-LRP6 complex that triggers beta-catenin signaling through inducing
aggregation of receptor-ligand complexes into ribosome-sized signalsomes. Cell-surface coreceptor of
Wnt/beta-catenin signaling, which plays a pivotal role in bone formation. The Wnt-induced Fzd/LRP6 coreceptor
complex recruits DVL1 polymers to the plasma membrane which, in turn, recruits the AXIN1/GSK3B-complex to the
cell surface promoting the formation of signalsomes and inhibiting AXIN1/GSK3-mediated phosphorylation and
destruction of beta-catenin. Appears be required for postnatal control of vascular regression in the eye.
Required for posterior patterning of the epiblast during gastrulation

Gene Wiki entry for LRP5 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_000011.9  NT_167190.1  NC_018922.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the LRP5 gene promoter:
         TBP   RP58   AML1a   FOXI1   S8   FOXO4   HSF2   IRF-7A   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidLRP5 promoter sequence
   Search SABiosciences Chromatin IP Primers for LRP5

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat LRP5


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

Entrez Gene cytogenetic band: 11q13.4   Ensembl cytogenetic band:  11q13.2   HGNC cytogenetic band: 11q13.4

LRP5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
LRP5 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P068080:  view genomic region     (about GC identifiers)

Start:
68,080,077 bp from pter      End:
68,216,743 bp from pter
Size:
136,667 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: LRP5_HUMAN, O75197 (See protein sequence)
Recommended Name: Low-density lipoprotein receptor-related protein 5 precursor  
Size: 1615 amino acids; 179145 Da
Subunit: Homodimer; disulfide-linked. Forms phosphorylated oligomer aggregates on Wnt-signaling (By similarity).
Component of a Wnt-signaling complex that contains a WNT protein, a FZD protein and LRP5 or LRP6. Interacts with
FZD8; the interaction is formed on WNT-binding and signaling. Interacts (via the phosphorylated PPPSP motif
domains) with AXIN1; the interaction prevents inhibition of beta-catenin phosphorylation and signaling and is
enhanced in the presence of GSK3B and WNT1 or WNT3A. Interacts (via beta-propeller regions 3 and 4) with DKK1;
the interaction, enhanced by MESD and/or KREMEN, inhibits beta-catenin signaling by preventing GSK3-mediated
phosphorylation of the PPPSP motifs and subsequent, AXIN1 binding. Interacts with MESD; the interaction prevents
the formation of LRP5 aggregates, targets LRP5 to the plasma membrane and, when complexed with KREMEN2, increases
DKK1 binding. Interacts with CSNK1E. Interacts with SOST; the interaction antagonizes canonical Wnt signaling.
Interacts with APCDD1
Subcellular location: Membrane; Single-pass type I membrane protein. Endoplasmic reticulum (By similarity).
Note=Chaperoned to the plasma membrane by MESD (By similarity)
Secondary accessions: Q96TD6 Q9UES7 Q9UP66

Explore the universe of human proteins at neXtProt for LRP5: NX_O75197

Explore proteomics data for LRP5 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylation of cytoplasmic PPPSP motifs regulates the signal transduction of the Wnt signaling pathway through
    acting as a docking site for AXIN1 (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O75197

  • LRP5 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    LRP5 Protein Expression
    REFSEQ proteins: NP_002326.2  
    ENSEMBL proteins: 
     ENSP00000294304   ENSP00000436652   ENSP00000435315  

    Human Recombinant Protein Products for LRP5: 
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    Novus Biologicals LRP5 Protein
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for LRP5 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum IEA--
    GO:0005886plasma membrane IDA17680723
    GO:0016021integral to membrane IEA--
    GO:0043235receptor complex IDA18762581

    LRP5 for ontologies           About GeneDecksing



    LRP5 Antibody Products: 
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    Cloud-Clone Corp. ELISAs for LRP5 
    Cloud-Clone Corp. CLIAs for LRP5


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

    5/6 InterPro protein domains (see all 6):
     IPR002172 LDrepeatLR_classA_rpt
     IPR000033 LDLR_classB_rpt
     IPR023415 LDLR_class-A_CS
     IPR000742 EG-like_dom
     IPR011042 6-blade_b-propeller_TolB-like

    Graphical View of Domain Structure for InterPro Entry O75197

    ProtoNet protein and cluster: O75197

    1 Blocks protein domain: IPB002172 Low density lipoprotein-receptor

    UniProtKB/Swiss-Prot: LRP5_HUMAN, O75197
    Similarity: Belongs to the LDLR family
    Similarity: Contains 4 EGF-like domains
    Similarity: Contains 3 LDL-receptor class A domains
    Similarity: Contains 20 LDL-receptor class B repeats


    LRP5 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:

         UniProtKB/Swiss-Prot Summary: LRP5_HUMAN, O75197
    Function: Component of the Wnt-Fzd-LRP5-LRP6 complex that triggers beta-catenin signaling through inducing
    aggregation of receptor-ligand complexes into ribosome-sized signalsomes. Cell-surface coreceptor of
    Wnt/beta-catenin signaling, which plays a pivotal role in bone formation. The Wnt-induced Fzd/LRP6 coreceptor
    complex recruits DVL1 polymers to the plasma membrane which, in turn, recruits the AXIN1/GSK3B-complex to the
    cell surface promoting the formation of signalsomes and inhibiting AXIN1/GSK3-mediated phosphorylation and
    destruction of beta-catenin. Appears be required for postnatal control of vascular regression in the eye.
    Required for posterior patterning of the epiblast during gastrulation

         Genatlas biochemistry entry for LRP5:
    low density lipoprotein receptor related protein 5

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI15908424
    GO:0015026coreceptor activity IBA--
    GO:0017147Wnt-protein binding IBA--
    GO:0019534NOT toxin transporter activity IMP18350154
    GO:0042813Wnt-activated receptor activity IBA--
         
    LRP5 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for LRP5:
     Proliferating cells 

         15/18 MGI mutant phenotypes (inferred from 18 alleles(MGI details for Lrp5) (see all 18):
     behavior/neurological  cardiovascular system  cellular  craniofacial  embryogenesis 
     endocrine/exocrine gland  growth/size  hematopoietic system  homeostasis/metabolism  immune system 
     limbs/digits/tail  liver/biliary system  mortality/aging  nervous system  normal 

    LRP5 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for LRP5: Lrp5tm3.2Mawa Lrp5tm1Jsak Lrp5tm1.2Vari Lrp5tm1Grw Lrp5tm1Dgen Lrp5tm1Lex

       inGenious Targeting Laboratory - Custom generated mouse model solutions for LRP5 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for LRP5

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for LRP5 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for LRP5 

    miRNA
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    hsa-miR-3163 hsa-miR-23b hsa-miR-130a* hsa-miR-23a hsa-miR-375 hsa-miR-23c
    SwitchGear 3'UTR luciferase reporter plasmidLRP5 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector: LRP5 (NM_002335)
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LRP5


    (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 LRP5 About   (see all 10)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Wnt signaling pathway
    Wnt signaling pathway0.40
    Wnt Signaling Pathway NetPath0.37
    Wnt Signaling Pathway0.40
    2Wnt Signaling Pathway
    Wnt Signaling Pathway and Pluripotency0.55
    3Rho Family GTPases
    Molecular Mechanisms of Cancer0.51
    4Wnt signaling network
    Wnt signaling network
    5Wnt / Hedgehog / Notch
    Wnt / Hedgehog / Notch

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for LRP5
        Wnt Signaling Pathway

    4 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for LRP5
        Molecular Mechanisms of Cancer
    Reelin Pathway (Cajal-Retzius cells)
    Colorectal Cancer Metastasis
    WNT Signaling

    1 Cell Signaling Technology (CST) Pathway for LRP5
        Wnt / Hedgehog / Notch

    5 BioSystems Pathways for LRP5
        MicroRNAs in cardiomyocyte hypertrophy
    Wnt Signaling Pathway and Pluripotency
    Wnt Signaling Pathway NetPath
    N-cadherin signaling events
    Wnt signaling network


    1         Kegg Pathway  (Kegg details for LRP5):
        Wnt signaling pathway


    LRP5 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for LRP5

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

    5/31 Interacting proteins for LRP5 (O751973 ENSP000002943044) via UniProtKB, MINT, STRING, and/or I2D (see all 31)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AXIN1O151693, ENSP000002623204I2D: score=5 STRING: ENSP00000262320
    MESDC2Q146963, ENSP000002617584I2D: score=2 STRING: ENSP00000261758
    WNT1P046283, ENSP000002935494I2D: score=2 STRING: ENSP00000293549
    CDH2P190223, ENSP000002691414I2D: score=1 STRING: ENSP00000269141
    DKK1O949073, ENSP000003630814I2D: score=1 STRING: ENSP00000363081
    About this table

    Gene Ontology (GO): 5/30 biological process terms (GO ID links to tree view) (see all 30):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001702gastrulation with mouth forming second IBA--
    GO:0002053positive regulation of mesenchymal cell proliferation IMP17680723
    GO:0002076osteoblast development IBA--
    GO:0006007glucose catabolic process IMP19673927
    GO:0006897endocytosis IEA--

    LRP5 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

    LRP5 for compounds           About GeneDecksing

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

    Browse Tocris compounds for LRP5

    1 HMDB Compound for LRP5    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    9 Novoseek inferred chemical compound relationships for LRP5 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    opp-g 93.2 18 18825883 (4), 16252235 (3), 18602879 (3), 20096619 (2) (see all 6)
    vitamin d 37.9 15 16613987 (4), 19810105 (1), 19506792 (1), 15811432 (1) (see all 5)
    1,25 dihydroxy vitamin d3 33.8 1 17293108 (1)
    estrogen 22.9 5 19028354 (1), 15781005 (1), 17241106 (1), 19506792 (1) (see all 5)
    valine 22 3 17223614 (1), 19571442 (1), 15207752 (1)
    cholesterol 0 3 15448002 (1), 18721193 (1), 16723389 (1)
    lipid 0 8 19673927 (3), 19233690 (1), 18721193 (1), 18696049 (1) (see all 6)
    glucose 0 10 19673927 (6), 18493104 (1), 16723389 (1), 18696049 (1) (see all 5)
    calcium 0 2 15781005 (1), 16168727 (1)

    Search CenterWatch for drugs/clinical trials and news about LRP5

    (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 LRP5 gene: 
    NM_002335.2  

    Unigene Cluster for LRP5:

    Low density lipoprotein receptor-related protein 5
    Hs.6347  [show with all ESTs]
    Unigene Representative Sequence: NM_002335
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000294304(uc001ont.3) ENST00000529993(uc009ysg.3) ENST00000528890
    ENST00000528714 ENST00000533695 ENST00000529702 ENST00000529481
    miRNA
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    Additional mRNA sequence: 

    AB017498.1 AF064548.1 AF077820.1 AF088027.1 BC098397.1 BC150595.1 

    13 DOTS entries:

    DT.455960  DT.100026920  DT.91961498  DT.95233960  DT.100772573  DT.95262124  DT.100664890  DT.100707486 
    DT.100781223  DT.120742825  DT.40317391  DT.91878540  DT.95100675 

    24/221 AceView cDNA sequences (see all 221):

    BQ689731 BM561582 AF088027 BU157972 BU159392 BM854291 BM708358 AI073917 
    AA284502 BQ687102 BU732114 AA953315 AW207171 BX439521 BX102265 AI193440 
    AI310060 AB017498 BF940511 BM021359 AI338633 AW594043 BX280363 BF445906 

    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

    LRP5 expression in normal human tissues (normalized intensities)      LRP5 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGAAATGTGA
    LRP5 Expression
    About this image


    LRP5 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/26 selected tissues (see all 26) fully expand
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Cerebral Cortex
             brain/midbrain   
     
     Bone (Muscoskeletal System)    fully expand to see all 3 entries
             Membranous Facial Bones
             sensory organ/ear/inner ear   
     
     Heart (Cardiovascular System)    fully expand to see all 2 entries
             heart/atrium   
     
     Nose (Sensory Organs)    fully expand to see all 2 entries
             sensory organ/nose/nasal cavity   
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon

    See LRP5 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for LRP5

    SOURCE GeneReport for Unigene cluster: Hs.6347

    UniProtKB/Swiss-Prot: LRP5_HUMAN, O75197
    Tissue specificity: Widely expressed, with the highest level of expression in the liver and in aorta

        SABiosciences Expression via Pathway-Focused PCR Arrays including LRP5: 
              WNT Signaling Pathway in human mouse rat
              Stem Cell Signaling in human mouse rat
              Notch Signaling Pathway in human mouse rat
              Adipogenesis in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LRP5

    (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 animals.

    Orthologs for LRP5 gene from 7/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Lrp51 , 5 low density lipoprotein receptor-related protein 51, 5 86.86(n)1
    94.29(a)1
      19 (3.33 cM)5
    169731  NM_008513.31  NP_032539.21 
     35848285 
    chicken
    (Gallus gallus)
    Aves LRP51 low density lipoprotein receptor-related protein 5 75.86(n)
    88.03(a)
      423114  NM_001012897.1  NP_001012915.1 
    lizard
    (Anolis carolinensis)
    Reptilia LRP56
    Uncharacterized protein
    84(a)
    1 → many
    1(75392759-75528315)
    African clawed frog
    (Xenopus laevis)
    Amphibia lrp5-A2 low density lipoprotein receptor-related protein 5 75.18(n)    AF508960.1 
    zebrafish
    (Danio rerio)
    Actinopterygii lrp51 low density lipoprotein receptor-related protein 5 72.26(n)
    76.07(a)
      568518  NM_001177458.1  NP_001170929.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta arr1 , 3 Wnt receptor signaling pathway
    low-density lipoprotein receptor less3
    arrow1
    42(a)
    (best of 2)3
    53.48(n)1
    46.1(a)1
      442791  NM_079998.31  NP_524737.21 
    worm
    (Caenorhabditis elegans)
    Secernentea F14B4.16
    Protein F14B4.1
    21(a)
    possible ortholog
    I(9265951-9270919)


    ENSEMBL Gene Tree for LRP5 (if available)
    TreeFam Gene Tree for LRP5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for LRP5 gene
    LRP62  LRP1B2  EGF2  LDLR2  LRP5L2  LRP42  VLDLR2  NID22  
    NID12  LRP82  LRP12  
    8 SIMAP similar genes for LRP5 using alignment to 3 protein entries:     LRP5_HUMAN (see all proteins):
    LRP6    LRP5L    LDLR    LRP4    LRP1    LRP8
    LRP2    LRP1B

    LRP5 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for LRP5
    PGOHUM00000259699


    (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

    UniProtKB/Swiss-Prot: LRP5_HUMAN, O75197
    Polymorphism: Genetic variations in LRP5 define the bone mineral density quantitative trait locus 1 (BMND1)
    [MIM:601884]. Variance in bone mineral density influences bone mass and contributes to size determination in the
    general population


    10/3563 SNPs in LRP5 are shown (see all 3563)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0184664
    Vitreoretinopathy, exudative 4 (EVR4)4--see VAR_0184662 Y H mis40--------
    VAR_0639644
    Vitreoretinopathy, exudative 4 (EVR4)4--see VAR_0639642 A T mis40--------
    VAR_0639554
    Osteoporosis-pseudoglioma syndrome (OPPG)4--see VAR_0639552 D N mis40--------
    VAR_0218144
    Osteoporosis-pseudoglioma syndrome (OPPG)4--see VAR_0218142 R Q mis40--------
    VAR_0218124
    Van Buchem disease 2 (VBCH2)4--see VAR_0218122 A T mis40--------
    VAR_0639504
    Osteoporosis-pseudoglioma syndrome (OPPG)4--see VAR_0639502 S L mis40--------
    VAR_0212234
    Vitreoretinopathy, exudative 4 (EVR4)4--see VAR_0212232 R G mis40--------
    VAR_0184654
    Vitreoretinopathy, exudative 4 (EVR4)4--see VAR_0184652 T M mis40--------
    VAR_0218114
    Endosteal hyperostosis, Worth type (WENHY)4--see VAR_0218112 A V mis40--------
    VAR_0218084
    Osteopetrosis, autosomal dominant 1 (OPTA1)4--see VAR_0218082 G R mis40--------

    HapMap Linkage Disequilibrium report for LRP5 (68080077 - 68216743 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/20 variations for LRP5 (see all 20):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2744660CNV Deletion23290073
    esv2744658CNV Deletion23290073
    esv2744659CNV Deletion23290073
    esv2744661CNV Deletion23290073
    esv2656496CNV Deletion23128226
    esv2572031CNV Deletion19546169
    nsv509420CNV Insertion20534489
    esv2510779CNV Insertion19546169
    esv1742622CNV Insertion17803354
    esv1780205CNV Insertion17803354


    Human Gene Mutation Database (HGMD): LRP5

    Locus Specific Mutation Databases (LSDB): LRP5
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing LRP5
    DNA2.0 Custom Variant and Variant Library Synthesis for LRP5

    (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: 603506   
    OMIM disorders: 259770  601884  607634  144750  607636  166710  601813  
    UniProtKB/Swiss-Prot: LRP5_HUMAN, O75197
  • Vitreoretinopathy, exudative 4 (EVR4) [MIM:601813]: A disorder of the retinal vasculature characterized
    by an abrupt cessation of growth of peripheral capillaries, leading to an avascular peripheral retina. This may
    lead to compensatory retinal neovascularization, which is thought to be induced by hypoxia from the initial
    avascular insult. New vessels are prone to leakage and rupture causing exudates and bleeding, followed by
    scarring, retinal detachment and blindness. Clinical features can be highly variable, even within the same
    family. Patients with mild forms of the disease are asymptomatic, and their only disease related abnormality is
    an arc of avascular retina in the extreme temporal periphery. Note=The disease is caused by mutations affecting
    the gene represented in this entry
  • Osteoporosis (OSTEOP) [MIM:166710]: A systemic skeletal disorder characterized by decreased bone mass and
    deterioration of bone microarchitecture without alteration in the composition of bone. The result is fragile
    bones and an increased risk of fractures, even after minimal trauma. Osteoporosis is a chronic condition of
    multifactorial etiology and is usually clinically silent until a fracture occurs. Note=Disease susceptibility is
    associated with variations affecting the gene represented in this entry
  • Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770]: A disease characterized by congenital or
    infancy-onset blindness and severe juvenile-onset osteoporosis and spontaneous fractures. Additional clinical
    manifestations may include microphthalmos, abnormalities of the iris, lens or vitreous, cataracts, short stature,
    microcephaly, ligamental laxity, mental retardation and hypotonia. Note=The disease is caused by mutations
    affecting the gene represented in this entry
  • High bone mass trait (HBM) [MIM:601884]: Rare phenotype characterized by exceptionally dense bones. HBM
    individuals show otherwise a completely normal skeletal structure and no other unusual clinical findings.
    Note=The disease is caused by mutations affecting the gene represented in this entry
  • Endosteal hyperostosis, Worth type (WENHY) [MIM:144750]: An autosomal dominant sclerosing bone dysplasia
    clinically characterized by elongation of the mandible, increased gonial angle, flattened forehead, and the
    presence of a slowly enlarging osseous prominence of the hard palate (torus palatinus). Serum calcium, phosphorus
    and alkaline phosphatase levels are normal. Radiologically, it is characterized by early thickening of the
    endosteum of long bones, the skull and of the mandible. With advancing age, the trabeculae of the metaphysis
    become thickened. WENHY becomes clinically and radiologically evident by adolescence, does not cause deformity
    except in the skull and mandible, and is not associated with bone pain or fracture. Affected patients have normal
    height, proportion, intelligence and longevity. Note=The disease is caused by mutations affecting the gene
    represented in this entry
  • Osteopetrosis, autosomal dominant 1 (OPTA1) [MIM:607634]: A rare genetic disease characterized by
    abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe
    autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form
    occurring in adolescence or adulthood. OPTA1 is an autosomal dominant form characterized by generalized
    osteosclerosis most pronounced in the cranial vault. Patients are often asymptomatic, but some suffer from pain
    and hearing loss. It appears to be the only type of osteopetrosis not associated with an increased fracture rate.
    Note=The disease is caused by mutations affecting the gene represented in this entry
  • Van Buchem disease 2 (VBCH2) [MIM:607636]: VBCH2 is an autosomal dominant sclerosing bone dysplasia
    characterized by cranial osteosclerosis, thickened calvaria and cortices of long bones, enlarged mandible and
    normal serum alkaline phosphatase levels. Note=The disease is caused by mutations affecting the gene represented
    in this entry

  • 20/69 diseases for LRP5 (see all 69):    About MalaCards
    osteoporosis-pseudoglioma syndrome    bone density    high bone mass trait    osteosclerosis - developmental delay - craniosynostosis
    exudative vitreoretinopathy 4    hyperostosis, endosteal    osteopetrosis, ad type i    van buchem disease type 2
    osteopetrosis autosomal dominant type 1    idiopathic juvenile osteoporosis    osteosclerosis    type 1 diabetes mellitus
    exudative vitreoretinopathy    craniodiaphyseal dysplasia    hyperostosis corticalis generalisata, benign form of worth with torus palatinus    familial exudative vitreoretinopathy, autosomal dominant
    lrp5-related autosomal dominant osteopetrosis    lrp5-related familial exudative vitreoretinopathy, autosomal dominant    sost-related sclerosing bone dysplasia    lrp5-related familial exudative vitreoretinopathy, autosomal recessive

    9 diseases from the University of Copenhagen DISEASES database for LRP5:
    Exudative vitreoretinopathy     Osteoporosis     Hyperostosis     Idiopathic juvenile osteoporosis
    Glanders     Osteosclerosis     Blindness     Osteogenesis imperfecta
    Brucellosis

    LRP5 for disorders           About GeneDecksing

    10/29 Novoseek inferred disease relationships for LRP5 gene (see all 29)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    osteoporosis-pseudoglioma syndrome 96.8 20 15850991 (2), 12204281 (1), 15775238 (1), 16397351 (1) (see all 18)
    high bone mass 95.1 46 15824861 (4), 12817748 (3), 17295608 (3), 16397351 (2) (see all 27)
    mass phenotype 92.2 14 17295608 (2), 15095618 (1), 16397351 (1), 15824851 (1) (see all 10)
    sclerosteosis 89.4 2 15908424 (1), 14564212 (1)
    pseudoglioma 85.9 5 16679074 (2), 17395706 (1), 19041744 (1)
    van buchem disease 85.6 3 18538647 (1), 12579474 (1), 14564212 (1)
    osteosclerosis, autosomal dominant 84.7 2 12579474 (1), 15940380 (1)
    idiopathic juvenile osteoporosis 81.9 2 15824851 (1), 18602879 (1)
    osteoporosis 78.3 58 15824851 (4), 17395706 (3), 18349089 (3), 16168727 (3) (see all 35)
    torus palatinus 76.4 1 15940380 (1)

    GeneTests: LRP5
    GeneReviews: LRP5
    Genetic Association Database (GAD): LRP5
    Human Genome Epidemiology (HuGE) Navigator: LRP5 (89 documents)

    Export disorders for LRP5 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 LRP5 gene, integrated from 9 sources (see all 285):
    (articles sorted by number of sources associating them with LRP5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes. (PubMed id 15981244)1, 2, 4, 9 Qin M....Kondo H. (2005)
    2. Polymorphisms in the low-density lipoprotein receptor-related protein 5 (LRP5) gene are associated with variation in vertebral bone mass, vertebral bone size, and stature in whites. (PubMed id 15077203)1, 2, 4, 9 Ferrari S.L.... Antonarakis S.E. (2004)
    3. LRP5, low-density-lipoprotein-receptor-related protein 5, is a determinant for bone mineral density. (PubMed id 14727154)1, 2, 4, 9 Mizuguchi T.... Yoshiura K. (2004)
    4. Cloning of a novel member of the low-density lipoprotein receptor family. (PubMed id 9714764)1, 2, 3, 9 Hey P.J.... Hess J.F. (1998)
    5. Oropharyngeal skeletal disease accompanying high bone mass and novel LRP5 mutation. (PubMed id 15824861)1, 2, 9 Rickels M.R....Whyte M.P. (2005)
    6. Low-density lipoprotein receptor-related protein 5 (LRP5) gene polymorphisms are associated with bone mass in both Chinese and whites. (PubMed id 17241106)1, 4, 9 Xiong D.H....Deng H.W. (2007)
    7. Low density lipoprotein receptor-related protein 5 (L RP5) mutations and osteoporosis, impaired glucose metabolism and hypercholester olaemia. (PubMed id 19673927)1, 4, 9 Saarinen A....MAokitie O. (2010)
    8. Genetic variation at the low-density lipoprotein receptor-related protein 5 (LRP5) locus modulates Wnt signaling and the relationship of physical activity with bone mineral density in men. (PubMed id 17137849)1, 4, 9 Kiel D.P....Dupuis J. (2007)
    9. LRP5 gene polymorphisms and idiopathic osteoporosis in men. (PubMed id 16168727)1, 4, 9 Ferrari S.L....de Vernejoul M.C. (2005)
    10. Contribution of the LRP5 gene to normal variation in peak BMD in women. (PubMed id 15619672)1, 4, 9 Koller D.L....Econs M.J. (2005)

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

      Query String
    PubMed
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      (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: 4041 HGNC: 6697 AceView: LRP5 Ensembl:ENSG00000162337 euGenes: HUgn4041
    ECgene: LRP5 Kegg: 4041 H-InvDB: LRP5

    (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 LRP5 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for LRP5 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/LRP5

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for LRP5 gene:
    Search GeneIP for patents involving LRP5

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



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    About This Section

     
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