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LRP2 Gene

protein-coding   GIFtS: 66
GCID: GC02M169947

Low Density Lipoprotein Receptor-Related Protein 2

  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
Low Density Lipoprotein Receptor-Related Protein 21 2     Heymann Nephritis Antigen Homolog2
megalin1 2     Low-Density Lipoprotein Receptor-Related Protein 22
Glycoprotein 3302 3     Megalin3
LRP-22 3     gp3303
DBS2 5     EC 1.1.2.38
GP3302     EC 3.4.21.98
Calcium Sensor Protein2     

External Ids:    HGNC: 66941   Entrez Gene: 40362   Ensembl: ENSG000000814797   OMIM: 6000735   UniProtKB: P981643   

Export aliases for LRP2 gene to outside databases

Previous GC identifers: GC02M168036 GC02M168526 GC02M170187 GC02M169810 GC02M169693 GC02M161880


(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 LRP2 Gene:
The protein encoded by this gene, low density lipoprotein-related protein 2 (LRP2) or megalin, is a multi-ligand
endocytic receptor that is expressed in many different tissues but primarily in absorptive epithilial tissues
such as the kidney. This glycoprotein has a large amino-terminal extracellular domain, a single transmembrane
domain, and a short carboxy-terminal cytoplasmic tail. The extracellular ligand-binding-domains bind diverse
macromolecules including albumin, apolipoproteins B and E, and lipoprotein lipase. The LRP2 protein is critical
for the reuptake of numerous ligands, including lipoproteins, sterols, vitamin-binding proteins, and hormones.
This protein also has a role in cell-signaling; extracellular ligands include parathyroid horomones and the
morphogen sonic hedgehog while cytosolic ligands include MAP kinase scaffold proteins and JNK interacting
proteins. Recycling of this membrane receptor is regulated by phosphorylation of its cytoplasmic domain.
Mutations in this gene cause Donnai-Barrow syndrome (DBS) and facio-oculoacoustico-renal syndrome
(FOAR).(provided by RefSeq, Aug 2009)

GeneCards Summary for LRP2 Gene:
LRP2 (low density lipoprotein receptor-related protein 2) is a protein-coding gene. Diseases associated with LRP2 include donnai-barrow syndrome, and cystinosis. GO annotations related to this gene include SH3 domain binding and calcium ion binding. An important paralog of this gene is LRP6.

UniProtKB/Swiss-Prot: LRP2_HUMAN, P98164
Function: Acts together with cubilin to mediate HDL endocytosis (By similarity). May participate in regulation of
parathyroid-hormone and para-thyroid-hormone-related protein release

Gene Wiki entry for LRP2 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_000002.12  NT_005403.18  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the LRP2 gene promoter:
         RFX1   Spz1   MAZR   POU3F2 (N-Oct-5a)   POU3F2   Tal-1beta   YY1   E47   MZF-1   Ik-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidLRP2 promoter sequence
   Search Chromatin IP Primers for LRP2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat LRP2


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

Entrez Gene cytogenetic band: 2q31.1   Ensembl cytogenetic band:  2q31.1   HGNC cytogenetic band: 2q31.1

LRP2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
LRP2 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M169947:  view genomic region     (about GC identifiers)

Start:
169,983,619 bp from pter      End:
170,219,195 bp from pter
Size:
235,577 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, 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: LRP2_HUMAN, P98164 (See protein sequence)
Recommended Name: Low-density lipoprotein receptor-related protein 2 precursor  
Size: 4655 amino acids; 521958 Da
Subunit: Binds plasminogen, extracellular matrix components, plasminogen activator-plasminogen activator inhibitor
type I complex, apolipoprotein E-enriched beta-VLDL, lipoprotein lipase, lactoferrin, CLU/clusterin and calcium.
Forms a multimeric complex together with a receptor-associated protein (RAP). Binds to ankyrin-repeat family A
protein 2 (ANKRA2). Interacts with LRP2BP. Interacts (via NPXY motif) with DAB2; the interaction is not affected
by tyrosine phosphorylation of the NPXY motif
1 PDB 3D structure from and Proteopedia for LRP2:
2M0P (3D)    
Secondary accessions: O00711 Q16215

Explore the universe of human proteins at neXtProt for LRP2: NX_P98164

Explore proteomics data for LRP2 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn159, Asn178, Asn299, Asn300, Asn341, Asn388, Asn463, Asn866, Asn1064, Asn1144,
                                 Asn1186, Thr1270, Ser1273, Asn1327, Asn1340, Asn1383, Asn1464, Asn1496, Asn1550, Asn1675 (see all 45)
  • Modification sites at PhosphoSitePlus
  • 2 DME Specific Peptides for LRP2 (P98164)
     GIPFTLS  CPDGSDE 


    See LRP2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_004516.2  
    ENSEMBL proteins: 
     ENSP00000263816   ENSP00000409813  
    Reactome Protein details: P98164

    LRP2 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for LRP2
    GenScript Custom Purified and Recombinant Proteins Services for LRP2
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for LRP2

    LRP2 Antibody Products:

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    Novus Biologicals LRP2 Antibodies
    Abcam antibodies for LRP2
    Cloud-Clone Corp. Antibodies for LRP2
    ThermoFisher Antibodies for LRP2
    LSBio Antibodies in human, mouse, rat for LRP2

    LRP2 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for LRP2
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for LRP2
    Cloud-Clone Corp. CLIAs for LRP2


    (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 12):
     IPR002172 LDrepeatLR_classA_rpt
     IPR000033 LDLR_classB_rpt
     IPR001881 EGF-like_Ca-bd_dom
     IPR023415 LDLR_class-A_CS
     IPR000742 EG-like_dom

    Graphical View of Domain Structure for InterPro Entry P98164

    ProtoNet protein and cluster: P98164

    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: LRP2_HUMAN, P98164
    Similarity: Belongs to the LDLR family
    Similarity: Contains 17 EGF-like domains
    Similarity: Contains 36 LDL-receptor class A domains
    Similarity: Contains 37 LDL-receptor class B repeats


    LRP2 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: LRP2_HUMAN, P98164
    Function: Acts together with cubilin to mediate HDL endocytosis (By similarity). May participate in regulation of
    parathyroid-hormone and para-thyroid-hormone-related protein release

         Genatlas biochemistry entry for LRP2:
    multifunctional clearance receptor,Ca++ binding megalin (glycoprotein 330,gp330),LDLR receptor
    superfamily,expressed in the neuroepithelium and in proximal tubular cells of the kidney,possessing broad ligand
    specificity and mediating the uptake and lysosomal degradation of macromolecules including lipoproteins,proteases
    and protease inhibitors and in vivo the Ca2+ sensing in the parathyroids and renal uptake and activation of
    CYP25D1A,also expressed on the apical surfaces of epithelial cells lining specific regions of the male and female
    reproductive tracts and in seminal vesicle (rat) where it acts as an endocytic receptor for seminal vesicle
    secretory protein 2

         Enzyme Numbers (IUBMB): EC 1.1.2.32 EC 3.4.21.92

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding IPI14528014
    GO:0017124SH3 domain binding IEA--
         
    LRP2 for ontologies           About GeneDecksing


    Phenotypes:
         Selected MGI mutant phenotypes (inferred from 6 alleles(MGI details for Lrp2) (see all 17):
     behavior/neurological  cellular  craniofacial  digestive/alimentary  embryogenesis 
     endocrine/exocrine gland  growth/size/body  hearing/vestibular/ear  homeostasis/metabolism  mortality/aging 
     nervous system  no phenotypic analysis  renal/urinary system  reproductive system  respiratory system 

    LRP2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Lrp2tm1Her for LRP2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for LRP2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for LRP2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for LRP2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for LRP2

    miRNA
    Products:
        
    miRTarBase miRNAs that target LRP2:
    hsa-mir-196a-5p (MIRT048169)

    Block miRNA regulation of human, mouse, rat LRP2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate LRP2 (see all 86):
    hsa-miR-548j hsa-miR-26a-2* hsa-miR-520e hsa-miR-3938 hsa-miR-15a hsa-miR-146a hsa-miR-199a-3p hsa-miR-548a-5p
    SwitchGear 3'UTR luciferase reporter plasmidLRP2 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for LRP2
    Predesigned siRNA for gene silencing in human, mouse, rat LRP2

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for LRP2

    Clone
    Products:
         
    OriGene clones in human, mouse for LRP2 (see all 4)
    OriGene ORF clones in mouse, rat for LRP2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: LRP2 (NM_004525)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for LRP2
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat LRP2

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for LRP2
    Browse ESI BIO Cell Lines and PureStem Progenitors for LRP2 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LRP2


    (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
    LRP2_HUMAN, P98164: Membrane; Single-pass type I membrane protein. Membrane, coated pit
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    lysosome4
    plasma membrane4
    vacuole4
    endoplasmic reticulum2
    endosome2
    extracellular2
    golgi apparatus2
    cytoskeleton1
    nucleus1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005764lysosome TAS7768901
    GO:0005765lysosomal membrane IDA17897319
    GO:0005768endosome IEA--
    GO:0005783endoplasmic reticulum IEA--
    GO:0005794Golgi apparatus IEA--

    LRP2 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 LRP2 About   (see all 8)  
    See pathways by source

    SuperPathContained pathways About
    1Diseases associated with visual transduction
    Visual phototransduction0.44
    Diseases associated with visual transduction0.43
    Retinoid metabolism and transport0.44
    2Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    3Metabolism of steroid hormones and vitamin D
    Metabolism of steroid hormones and vitamin D
    Vitamin D (calciferol) metabolism0.00
    4Signaling by GPCR
    Signal Transduction0.58
    5Basal cell carcinoma
    Hedgehog signaling pathway0.43

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for LRP2
        Signaling events mediated by the Hedgehog family

    2 Reactome Pathways for LRP2
        Retinoid metabolism and transport
    Vitamin D (calciferol) metabolism


    2 Kegg Pathways  (Kegg details for LRP2):
        Hedgehog signaling pathway
    Thyroid hormone synthesis


    LRP2 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including LRP2: 
              Hedgehog Signaling Pathway in human mouse rat
              Primary Cilia in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for LRP2

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

    Selected Interacting proteins for LRP2 (P981642, 3 ENSP000002638164) via UniProtKB, MINT, STRING, and/or I2D (see all 76)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ABL1P005192, 3, ENSP000003614234MINT-8110503 I2D: score=3 STRING: ENSP00000361423
    ATN1P542592, 3, ENSP000003490764MINT-2860530 I2D: score=3 STRING: ENSP00000349076
    DAB2P980823, ENSP000003133914I2D: score=3 STRING: ENSP00000313391
    MAPK8IP1Q9UQF23, ENSP000002410144I2D: score=3 STRING: ENSP00000241014
    MAPK8IP2Q133873, ENSP000003305724I2D: score=3 STRING: ENSP00000330572
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001523retinoid metabolic process TAS--
    GO:0006486protein glycosylation TAS2786251
    GO:0006629lipid metabolic process TAS7768901
    GO:0006766vitamin metabolic process ----
    GO:0006897endocytosis TAS7768901

    LRP2 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 LRP2

    1 HMDB Compound for LRP2    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    4 DrugBank Compounds for LRP2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Insulin, porcine-- 9004-14-2target--9051350 17016423 17139284 17018843 9773776
    UrokinaseU-plasminogen activator (see all 3)9039-53-6target--17139284 1280065 7959795 8241286 17016423
    Gentamicin-- 1403-66-3targetother/unknown15777622 16488503 15023454
    Insulin Regular -- 11061-68-0target--17139284 17016423

    Selected Novoseek inferred chemical compound relationships for LRP2 gene (see all 27)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    calcium 53.6 137 1861632 (4), 1382088 (3), 9872924 (2), 9336177 (2) (see all 72)
    vitamin b12 47.8 8 8710919 (2), 9334227 (1), 12879166 (1), 9792428 (1) (see all 6)
    aminoglycosides 46.3 11 16679740 (3), 7544804 (1), 11700326 (1), 19202329 (1) (see all 7)
    25-hydroxyvitamin d 45.4 3 19944755 (1), 17395559 (1)
    vitamin d 44 8 10671148 (1), 17906399 (1), 17976080 (1), 12671190 (1) (see all 5)
    calcitriol 38 2 17906399 (1), 11435522 (1)
    cobalamin 35.7 1 12879166 (1)
    ryanodine 23.2 3 9202848 (1), 12731896 (1), 10341294 (1)
    gentamicin 21.6 3 11880332 (2), 8991602 (1)
    dbc-amp 9.73 1 7768901 (1)

    1 PharmGKB related drug/compound annotation for LRP2 gene    About this table
    Drug/compound PharmGKB Annotation
    cisplatinCA  



    LRP2 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 LRP2 gene: 
    NM_004525.2  

    Unigene Cluster for LRP2:

    Low density lipoprotein receptor-related protein 2
    Hs.657729  [show with all ESTs]
    Unigene Representative Sequence: NM_004525
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000263816(uc002ues.3) ENST00000491228 ENST00000461418 ENST00000443831(uc010zdf.1)
    ENST00000493501
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat LRP2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate LRP2 (see all 86):
    hsa-miR-548j hsa-miR-26a-2* hsa-miR-520e hsa-miR-3938 hsa-miR-15a hsa-miR-146a hsa-miR-199a-3p hsa-miR-548a-5p
    SwitchGear 3'UTR luciferase reporter plasmidLRP2 3' UTR sequence
    Inhib. RNA
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    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: LRP2 (NM_004525)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for LRP2
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat LRP2
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for LRP2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat LRP2
      QuantiTect SYBR Green Assays in human, mouse, rat LRP2
      QuantiFast Probe-based Assays in human, mouse, rat LRP2

    Additional mRNA sequence: 

    AK295005.1 AK302843.1 AY265357.1 AY265358.1 S73145.1 U04441.1 U33837.1 

    4 DOTS entries:

    DT.308793  DT.75124593  DT.70101705  DT.120996083 

    Selected AceView cDNA sequences (see all 85):

    AY265358 U33837 BQ025820 BF772450 BU754442 AW025388 AW149108 AL698310 
    BQ023258 AL698960 NM_004525 AW296105 R76808 BF196079 BM929864 S73145 
    AU117089 AI668574 AY265357 CB155811 AA740672 AI820823 AL699868 BX092849 

    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™, 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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    LRP2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    LRP2 Expression
    About this image


    LRP2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 15) fully expand
     
     Neural Tube (Nervous System)    fully expand to see all 7 entries
             Metencephalon
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 4 entries
             Muscle Progenitor Cells Mandibular Arch Muscles
     
     Kidney (Urinary System)    fully expand to see all 3 entries
             Presumptive Podocytes Podocyte Layer
             Proximal tubule-like cells
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Mature Choroid Plexus Cells Choroid Plexus
             Cerebellum
     
     Epithelial Cells
             Presumptive Podocytes Podocyte Layer
    LRP2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    LRP2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.657729

    UniProtKB/Swiss-Prot: LRP2_HUMAN, P98164
    Tissue specificity: Absorptive epithelia, including renal proximal tubules

        Pathway & Disease-focused RT2 Profiler PCR Arrays including LRP2: 
              Hedgehog Signaling Pathway in human mouse rat
              Primary Cilia in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for LRP2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat LRP2
    QuantiTect SYBR Green Assays in human, mouse, rat LRP2
    QuantiFast Probe-based Assays in human, mouse, rat LRP2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LRP2

    (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 LRP2 gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Lrp21 , 5 low density lipoprotein receptor-related protein 21, 5 80.05(n)1
    76.95(a)1
      2 (40.74 cM)5
    147251  NM_001081088.11  NP_001074557.11 
     694243405 
    chicken
    (Gallus gallus)
    Aves LRP21 low density lipoprotein receptor-related protein 2 73.28(n)
    72.43(a)
      424168  XM_004942763.1  XP_004942820.1 
    lizard
    (Anolis carolinensis)
    Reptilia LRP26
    low density lipoprotein receptor-related protein 2...
    71(a)
    1 ↔ 1
    GL343362.1(95896-279381)
    African clawed frog
    (Xenopus laevis)
    Amphibia CD255638.12   -- 81.77(n)    CD255638.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.206532 Transcribed sequence with weak similarity to protein more 70.06(n)    CA787580.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG121393
    mgl1
    low-density lipoprotein receptor3
    Megalin1
    44(a)
    (best of 2)3
    51(n)1
    44.05(a)1
      8E23
    86740551  NM_001103454.21  NP_001096924.21 
    worm
    (Caenorhabditis elegans)
    Secernentea B0244.83
    lrp-11
    LDL receptor3
    lrp-11
    35(a)
    (best of 5)3
    47.87(n)1
    37.45(a)1
      III(5799386-5801797)3
    1725201  NM_059726.51  NP_492127.11 


    ENSEMBL Gene Tree for LRP2 (if available)
    TreeFam Gene Tree for LRP2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for LRP2 gene
    LRP62  LRP52  LRP1B2  EGF2  LDLR2  LRP5L2  LRP42  VLDLR2  
    NID12  NID22  LRP82  LRP12  
    9 SIMAP similar genes for LRP2 using alignment to 6 protein entries:     LRP2_HUMAN (see all proteins):
    ldlr    LRP5L    LRP4    LRP8    LRP1    LRP1B
    LRP5    VLDLR    LDLR

    LRP2 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), 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 LRP2 (see all 5582)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0359964
    A colorectal cancer sample4--see VAR_0359962 M V mis40--------
    VAR_0370134
    Donnai-Barrow syndrome (DBS)4--see VAR_0370132 Y H mis40--------
    rs803387521,2
    Cpathogenic1169429923(-) ACCATC/TGACAC 2 R * stg10--------
    rs803387471,2
    Cpathogenic1169457529(-) ACCTGC/TACTGG 2 H Y mis10--------
    rs803387441,2
    Cpathogenic1169534840(-) AAAGCC/TGACCT 2 R * stg10--------
    rs1433559071,2
    Cuntested1169391524(+) GTAGCC/TGCTAG 2 S G mis10--------
    rs1425493101,2
    C,Funtested1169425917(+) TGCAGC/TGGCCA 2 H R mis11Minor allele frequency- T:0.00NA 4552
    rs1868207791,2
    --169378572(+) CAACCA/GAGCCC 1 -- ds50010--------
    rs1896550921,2
    C--169378640(+) CATACA/CCTATG 1 -- ds50010--------
    rs3685340991,2
    C--169378786(+) CTGGT-/GGGTTA 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for LRP2 (169983619 - 170219195 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for LRP2 (see all 16):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2721113CNV Deletion23290073
    esv2639235CNV Deletion19546169
    esv2721112CNV Deletion23290073
    esv2053158CNV Deletion18987734
    esv2721111CNV Deletion23290073
    esv2179866CNV Deletion18987734
    esv2721110CNV Deletion23290073
    esv2665220CNV Deletion23128226
    esv1010911CNV Deletion20482838
    esv269418CNV Insertion20981092

    Human Gene Mutation Database (HGMD): LRP2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing LRP2
    DNA2.0 Custom Variant and Variant Library Synthesis for LRP2

    (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: 600073   
    OMIM disorders: 222448  
    UniProtKB/Swiss-Prot: LRP2_HUMAN, P98164
  • Donnai-Barrow syndrome (DBS) [MIM:222448]: Rare autosomal recessive disorder characterized by major
    malformations including agenesis of the corpus callosum, congenital diaphragmatic hernia, facial dysmorphology,
    ocular anomalies, sensorineural hearing loss and developmental delay. The FOAR syndrome was first described as
    comprising facial anomalies, ocular anomalies, sensorineural hearing loss, and proteinuria. DBS and FOAR were
    first described as distinct disorders but the classic distinguishing features between the 2 disorders were
    presence of proteinuria and absence of diaphragmatic hernia and corpus callosum anomalies in FOAR. Early reports
    noted that the 2 disorders shared many phenotypic features and may be identical. Although there is variability in
    the expression of some features (e.g., agenesis of the corpus callosum and proteinuria), DBS and FOAR are now
    considered to represent the same entity. Note=The disease is caused by mutations affecting the gene represented
    in this entry

  • Selected diseases for LRP2 (see all 51):    
    About MalaCards
    donnai-barrow syndrome    cystinosis    nephritis    dent's disease
    cerebral lymphoma    aromatase deficiency    nephropathic cystinosis    nephrocalcinosis
    holoprosencephaly    membranous glomerulonephritis    fanconi syndrome    richter's syndrome
    behcet's disease    primary hyperparathyroidism    conduct disorder    proteinuria
    glomerulonephritis    hyperparathyroidism    congenital diaphragmatic hernia    graves' disease

    3 diseases from the University of Copenhagen DISEASES database for LRP2:
    Nephritis     Proteinuria     Fanconi syndrome

    LRP2 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for LRP2 gene (see all 30)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    dent disease 89 12 15052463 (4), 11752029 (2), 19579036 (1), 15338396 (1) (see all 8)
    nephropathy membranous 80.4 8 9207124 (1), 16189625 (1), 2133428 (1), 1495959 (1) (see all 7)
    glomerulonephritis 70.9 43 2133428 (6), 7944157 (2), 1495959 (2), 8238258 (2) (see all 22)
    proteinuria 66.8 14 10514418 (3), 11132040 (1), 12187318 (1), 17729440 (1) (see all 12)
    lowe syndrome 65.3 3 11752029 (2), 19579036 (1)
    membranous nephritis 63.7 2 10886254 (1)
    cystinosis 50.6 1 18455850 (1)
    hypercalciuria 47.7 2 15052463 (1), 17708714 (1)
    holoprosencephaly 45.3 1 11228189 (1)
    albuminuria 40.7 1 19366958 (1)

    GeneTests: LRP2
    GeneReviews: LRP2
    Genetic Association Database (GAD): LRP2
    Human Genome Epidemiology (HuGE) Navigator: LRP2 (15 documents)

    Export disorders for LRP2 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 LRP2 gene, integrated from 10 sources (see all 369):
    (articles sorted by number of sources associating them with LRP2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Chromosomal localization of human genes for the LDL receptor family member glycoprotein 330 (LRP2) and its associated protein RAP (LRPAP1). (PubMed id 7959795)1, 2, 3, 7, 9 Korenberg J.R....Argraves W.S. (Genomics 1994)
    2. Identification of glycoprotein 330 as an endocytic receptor for apolipoprotein J/clusterin. (PubMed id 7768901)1, 2, 9 Kounnas M.Z.... Argraves W.S. (J. Biol. Chem. 1995)
    3. Cytosolic adaptor protein Dab2 is an intracellular ligand of endocytic receptor gp600/megalin. (PubMed id 10769163)1, 2, 9 Oleinikov A.V.... Makker S.P. (Biochem. J. 2000)
    4. Genetic association of low-density lipoprotein receptor-related protein 2 (LRP2) with plasma lipid levels. (PubMed id 18174661)1, 4, 9 Mii A....Katayama Y. (J. Atheroscler. Thromb. 2007)
    5. Cloning and sequencing of human gp330, a Ca(2+)-binding receptor with potential intracellular signaling properties. (PubMed id 8706697)1, 2, 9 Hjaelm G.... Morse B. (Eur. J. Biochem. 1996)
    6. A megalin polymorphism associated with promoter activity and Alzheimer's disease risk. (PubMed id 20052685)1, 4, 9 Vargas T....Carro E. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2010)
    7. Megalin is an endocytic receptor for insulin. (PubMed id 9773776)1, 7, 9 Orlando R.A....Farquhar M.G. (J. Am. Soc. Nephrol. 1998)
    8. Association of megalin genetic polymorphisms with prostate cancer risk and prognosis. (PubMed id 18559602)1, 4, 9 Holt S.K....Ostrander E.A. (Clin. Cancer Res. 2008)
    9. Megalin genetic polymorphisms and individual sensitivity to the ototoxic effect of cisplatin. (PubMed id 17457342)1, 4, 9 Riedemann L....am Zehnhoff-Dinnesen A. (Pharmacogenomics J. 2008)
    10. A genome-wide association study on common SNPs and rare CNVs in anorexia nervosa. (PubMed id 21079607)1, 4 Wang K....Hakonarson H. (Mol. Psychiatry 2011)

    (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: 4036 HGNC: 6694 AceView: LRP2 Ensembl:ENSG00000081479 euGenes: HUgn4036
    ECgene: LRP2 Kegg: 4036 H-InvDB: LRP2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for LRP2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for LRP2 gene:
    Search GeneIP for patents involving LRP2

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



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