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LRP8 Gene

protein-coding   GIFtS: 64
GCID: GC01M053711

Low Density Lipoprotein Receptor-Related Protein 8, Apolipoprotein...

  See LRP8-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 8, Apolipoprotein E
Receptor1 2
     HSZ751902
APOER22 3 5     ApoE Receptor 22
LRP-82 3     Low-Density Lipoprotein Receptor-Related Protein 82
MCI12 5     Apolipoprotein E Receptor 23

External Ids:    HGNC: 67001   Entrez Gene: 78042   Ensembl: ENSG000001571937   OMIM: 6026005   UniProtKB: Q141143   

Export aliases for LRP8 gene to outside databases

Previous GC identifers: GC01M053346 GC01M052600 GC01M053069 GC01M053081 GC01M053423 GC01M053483 GC01M051826


(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 LRP8 Gene:
This gene encodes a member of the low density lipoprotein receptor (LDLR) family. Low density lipoprotein
receptors are cell surface proteins that play roles in both signal transduction and receptor-mediated endocytosis
of specific ligands for lysosomal degradation. The encoded protein plays a critical role in the migration of
neurons during development by mediating Reelin signaling, and also functions as a receptor for the cholesterol
transport protein apolipoprotein E. Expression of this gene may be a marker for major depressive disorder.
Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. (provided
by RefSeq, Jun 2011)

GeneCards Summary for LRP8 Gene:
LRP8 (low density lipoprotein receptor-related protein 8, apolipoprotein e receptor) is a protein-coding gene. Diseases associated with LRP8 include myocardial infarction, susceptibility to, 1, and major depressive disorder. GO annotations related to this gene include apolipoprotein binding and calcium ion binding. An important paralog of this gene is LRP6.

UniProtKB/Swiss-Prot: LRP8_HUMAN, Q14114
Function: Cell surface receptor for Reelin (RELN) and apolipoprotein E (apoE)-containing ligands. LRP8
participates in transmitting the extracellular Reelin signal to intracellular signaling processes, by binding to
DAB1 on its cytoplasmic tail. Reelin acts via both the VLDL receptor (VLDLR) and LRP8 to regulate DAB1 tyrosine
phosphorylation and microtubule function in neurons. LRP8 has higher affinity for Reelin than VLDLR. LRP8 is thus
a key component of the Reelin pathway which governs neuronal layering of the forebrain during embryonic brain
development. Binds the endoplasmic reticulum resident receptor-associated protein (RAP). Binds dimers of beta
2-glycoprotein I and may be involved in the suppression of platelet aggregation in the vasculature. Highly
expressed in the initial segment of the epididymis, where it affects the functional expression of clusterin and
phospholipid hydroperoxide glutathione peroxidase (PHGPx), two proteins required for sperm maturation. May also
function as an endocytic receptor

Gene Wiki entry for LRP8 (Low density lipoprotein receptor-related protein 8) 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 at NCBI GenBank:
NC_000001.10  NT_032977.10  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the LRP8 gene promoter:
         RORalpha1   USF1   USF-1   USF2   USF-1:USF-2   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for LRP8

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat LRP8


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

Entrez Gene cytogenetic band: 1p34   Ensembl cytogenetic band:  1p32.3   HGNC cytogenetic band: 1p32.3

LRP8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
LRP8 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M053711:  view genomic region     (about GC identifiers)

Start:
53,708,036 bp from pter      End:
53,793,821 bp from pter
Size:
85,786 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: LRP8_HUMAN, Q14114 (See protein sequence)
Recommended Name: Low-density lipoprotein receptor-related protein 8 precursor  
Size: 963 amino acids; 105634 Da
Subunit: Reelin associates with two or more receptor molecules. Interacts with DAB1 and JNK-interacting proteins.
Interacts with SNX17 (By similarity). Interacts with PCSK9
Miscellaneous: Natural isoforms of apoE (E2, E3, E4) have similar affinities for LRP8
Sequence caution: Sequence=CAA99509.1; Type=Frameshift; Positions=430, 432, 438;
1 PDB 3D structure from and Proteopedia for LRP8:
3A7Q (3D)    
Secondary accessions: B1AMT6 B1AMT7 B1AMT8 O14968 Q86V27 Q99876 Q9BR78
Alternative splicing: 5 isoforms:  Q14114-1   Q14114-2   Q14114-3   Q14114-4   Q14114-5   (Contains an insert in the extracellular part which carries a furin cleavage site)

Explore the universe of human proteins at neXtProt for LRP8: NX_Q14114

Explore proteomics data for LRP8 at MOPED

Post-translational modifications: 

  • O-glycosylated. Some alternatively spliced isoforms lack the O-linked sugar domain (By similarity)1
  • Undergoes sequential, furin and gamma-secretase dependent, proteolytic processing, resulting in the extracellular
    release of the entire ligand-binding domain as a soluble polypeptide and in the intracellular domain (ICD)
    release into the cytoplasm. The gamma-secretase-dependent proteolytical processing occurs after the bulk of the
    extracellular domain has been shed, in a furin-dependent manner, in alternatively spliced isoforms carrying the
    furin cleavage site. Hypoglycosylation (mainly hypo-O-glycosylation) leads to increased extracellular cleavage,
    which in turn results in accelerating release of the intracellular domain (ICD) by the gamma-secretase. The
    resulting receptor fragment is able to inhibit Reelin signaling and in particular the Reelin-induced DAB1
    phosphorylation (By similarity)1
  • Tyrosine phosphorylated upon apoE binding1
  • Ubiquitinated by MYLIP leading to degradation1
  • Glycosylation2 at Thr85, Asn176, Asn441, Asn518, Asn538, Asn772, Asn807
  • Modification sites at PhosphoSitePlus

  • See LRP8 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001018064.1  NP_004622.2  NP_059992.3  NP_150643.2  

    ENSEMBL proteins: 
     ENSP00000303634   ENSP00000431241   ENSP00000360509   ENSP00000437009   ENSP00000346391  
     ENSP00000433554   ENSP00000334522   ENSP00000435346   ENSP00000436651  
    Reactome Protein details: Q14114

    LRP8 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for LRP8 (Apolipoprotein E R2/ApoE R2)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for LRP8
    OriGene Protein Over-expression Lysate for LRP8
    OriGene MassSpec for LRP8
    OriGene Custom Protein Services for LRP8
    GenScript Custom Purified and Recombinant Proteins Services for LRP8
    Novus Biologicals LRP8 Protein
    Novus Biologicals LRP8 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for LRP8

     
    Search eBioscience for Proteins for LRP8 

     
    antibodies-online proteins for LRP8 (3 products) 

     
    antibodies-online peptides for LRP8

    LRP8 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
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    Novus Biologicals LRP8 Antibodies
    Abcam antibodies for LRP8
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    antibodies-online antibodies for LRP8 (64 products) 

    LRP8 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for LRP8
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for LRP8
    Cloud-Clone Corp. CLIAs for LRP8
    Search eBioscience for ELISAs for LRP8 
    antibodies-online kits for LRP8 (8 products) 


    (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):
     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 Q14114

    ProtoNet protein and cluster: Q14114

    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: LRP8_HUMAN, Q14114
    Domain: The cytoplasmic domain is involved in the binding of DAB1 and in the recruitment of JNK-interacting
    proteins. Isoforms, which lack part of the cytoplasmic domain, are unable to recruit members of the family of JNK
    interacting proteins (JIP) to the cytoplasmic tail (By similarity)
    Similarity: Belongs to the LDLR family
    Similarity: Contains 2 EGF-like domains
    Similarity: Contains 7 LDL-receptor class A domains
    Similarity: Contains 5 LDL-receptor class B repeats


    Find genes that share domains with LRP8           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: LRP8_HUMAN, Q14114
    Function: Cell surface receptor for Reelin (RELN) and apolipoprotein E (apoE)-containing ligands. LRP8
    participates in transmitting the extracellular Reelin signal to intracellular signaling processes, by binding to
    DAB1 on its cytoplasmic tail. Reelin acts via both the VLDL receptor (VLDLR) and LRP8 to regulate DAB1 tyrosine
    phosphorylation and microtubule function in neurons. LRP8 has higher affinity for Reelin than VLDLR. LRP8 is thus
    a key component of the Reelin pathway which governs neuronal layering of the forebrain during embryonic brain
    development. Binds the endoplasmic reticulum resident receptor-associated protein (RAP). Binds dimers of beta
    2-glycoprotein I and may be involved in the suppression of platelet aggregation in the vasculature. Highly
    expressed in the initial segment of the epididymis, where it affects the functional expression of clusterin and
    phospholipid hydroperoxide glutathione peroxidase (PHGPx), two proteins required for sperm maturation. May also
    function as an endocytic receptor

         Genatlas biochemistry entry for LRP8:
    low density lipoprotein receptor-related protein 8

         Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004888transmembrane signaling receptor activity TAS8626535
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding IPI12950167
    GO:0008035high-density lipoprotein particle binding IEA--
    GO:0019894kinesin binding IEA--
         
    Find genes that share ontologies with LRP8           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for LRP8:
     Increased gamma-H2AX phosphory 

         7 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Lrp8):
     behavior/neurological  cellular  growth/size/body  mortality/aging  nervous system 
     normal  reproductive system 

    Find genes that share phenotypes with LRP8           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for LRP8: Lrp8tm5Her Lrp8tm1Her

       genOway: Develop your customized and physiologically relevant rodent model for LRP8

    miRNA
    Products:
        
    miRTarBase miRNAs that target LRP8:
    hsa-mir-130b-3p (MIRT020152), hsa-mir-19b-3p (MIRT031127), hsa-mir-215-5p (MIRT024366), hsa-mir-30b-5p (MIRT046111), hsa-mir-192-5p (MIRT026507)

    Block miRNA regulation of human, mouse, rat LRP8 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate LRP8 (see all 112):
    hsa-miR-520e hsa-miR-520f hsa-miR-3607-3p hsa-miR-106a hsa-miR-374a hsa-miR-3921 hsa-miR-342-3p hsa-miR-3916
    SwitchGear 3'UTR luciferase reporter plasmidLRP8 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for LRP8
    Predesigned siRNA for gene silencing in human, mouse, rat LRP8

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for LRP8

    Clone
    Products:
         
    OriGene clones in human, mouse for LRP8 (see all 25)
    OriGene ORF clones in mouse, rat for LRP8
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): LRP8 (NM_001018054)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for LRP8
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LRP8

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for LRP8
    Browse ESI BIO Cell Lines and PureStem Progenitors for LRP8 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LRP8


    (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
    LRP8_HUMAN, Q14114: Cell membrane; Single-pass type I membrane protein (By similarity). Secreted (By
    similarity). Note=Isoforms that contain the exon coding for a furin-type cleavage site are proteolytically
    processed, leading to a secreted receptor fragment (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    endoplasmic reticulum2
    extracellular2
    cytoskeleton1
    golgi apparatus1
    mitochondrion1

    Gene Ontology (GO): Selected cellular component terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--
    GO:0005875microtubule associated complex IEA--
    GO:0005886plasma membrane TAS--
    GO:0005901caveola IDA11369809
    GO:0014069postsynaptic density IEA--

    Find genes that share ontologies with LRP8           About GenesLikeMe


    (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 LRP8 About   (see all 9)  
    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
    2Platelet homeostasis
    Platelet sensitization by LDL0.00
    Platelet homeostasis
    3Signaling by GPCR
    Signal Transduction0.58
    4Hemostasis
    Hemostasis0.43
    5Reelin signaling pathway
    Reelin signaling pathway


    Find genes that share SuperPaths with LRP8           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for LRP8
        Guidance Cues and Growth Cone Motility
    Reelin Pathway (Cajal-Retzius cells)

    2 BioSystems Pathways for LRP8
        Lissencephaly gene (LIS1) in neuronal migration and development
    Reelin signaling pathway

    2 Reactome Pathways for LRP8
        Retinoid metabolism and transport
    Platelet sensitization by LDL


        Pathway & Disease-focused RT2 Profiler PCR Array including LRP8: 
              Alzheimer's Disease in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for LRP8

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

    Selected Interacting proteins for LRP8 (Q141143 ENSP000003036344) via UniProtKB, MINT, STRING, and/or I2D (see all 47)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SNX17Q150363, ENSP000002335754I2D: score=4 STRING: ENSP00000233575
    MAPK8IP1Q9UQF23, ENSP000002410144I2D: score=3 STRING: ENSP00000241014
    APOEP026493, ENSP000002524864I2D: score=2 STRING: ENSP00000252486
    GRIN1Q055863, ENSP000003606164I2D: score=2 STRING: ENSP00000360616
    MAPK8IP2Q133873, ENSP000003305724I2D: score=2 STRING: ENSP00000330572
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 25):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter ISS--
    GO:0001523retinoid metabolic process TAS--
    GO:0006508proteolysis NAS11152697
    GO:0006629lipid metabolic process NAS11152697
    GO:0006897endocytosis IDA8626535

    Find genes that share ontologies with LRP8           About GenesLikeMe



    (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 LRP8

    9 Novoseek inferred chemical compound relationships for LRP8 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tyrosine 36.2 7 12681505 (2), 15883038 (2), 12737822 (1), 12376533 (1) (see all 5)
    phosphotyrosine 34.2 3 12882964 (1), 12737822 (1), 16951405 (1)
    cholesterol 26.3 5 11111096 (1), 16973241 (1)
    phosphoinositide 23.7 1 15883038 (1)
    nmda 18.3 4 16332682 (3)
    lipid 12.6 13 17620134 (4), 16354676 (1), 19519777 (1), 16101684 (1) (see all 6)
    phosphatidylinositol 12.2 2 12681505 (1)
    phospholipid 4.87 3 16091370 (2)
    nitric oxide 0 2 12681505 (1)



    Find genes that share compounds with LRP8           About GenesLikeMe



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for LRP8 gene (4 alternative transcripts): 
    NM_001018054.2  NM_004631.4  NM_017522.4  NM_033300.3  

    Unigene Cluster for LRP8:

    Low density lipoprotein receptor-related protein 8, apolipoprotein e receptor
    Hs.280387  [show with all ESTs]
    Unigene Representative Sequence: NM_004631
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000306052(uc001cvh.2 uc001cvi.2 uc001cvj.2 uc001cvk.2 uc001cvl.2)
    ENST00000529670 ENST00000371454 ENST00000465675 ENST00000354412 ENST00000480045
    ENST00000347547 ENST00000459674(uc001cvm.1) ENST00000460214 ENST00000481431
    ENST00000475501 ENST00000496580
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate LRP8 (see all 112):
    hsa-miR-520e hsa-miR-520f hsa-miR-3607-3p hsa-miR-106a hsa-miR-374a hsa-miR-3921 hsa-miR-342-3p hsa-miR-3916
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    GenScript: all cDNA clones in your preferred vector (see all 4): LRP8 (NM_001018054)
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      QuantiFast Probe-based Assays in human, mouse, rat LRP8

    Additional mRNA sequence: 

    AK096482.1 BC006443.1 BC051836.1 D50678.1 Z75190.1 

    12 DOTS entries:

    DT.100755084  DT.446842  DT.91822804  DT.92422864  DT.75101936  DT.100023860  DT.121327741  DT.100755085 
    DT.121327806  DT.437200  DT.91720169  DT.91754822 

    Selected AceView cDNA sequences (see all 83):

    BM477111 AI805485 CA433320 AI655682 BE543079 BG152550 AW594267 BC006443 
    CA396045 BU618740 BC051836 BU169869 BQ775541 AI656309 BX103904 BU621479 
    AA307126 AL119002 BM683602 BI860898 BQ439438 BX492617 Z75190 BM760939 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for LRP8 (see all 9)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13a · 13b ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18a · 18b ^ 19 ^
    SP1:        -                 -                             -                                                                             -                     
    SP2:        -                 -                             -                                                                             -                     
    SP3:        -                 -           -                 -                                                                             -     -     -         
    SP4:                          -           -                 -           -                                                                 -                     
    SP5:                                                                                                                                                            

    ExUns: 20 ^ 21 ^ 22a · 22b · 22c · 22d · 22e
    SP1:                                          
    SP2:        -                                 
    SP3:        -                                 
    SP4:        -                                 
    SP5:                                          


    ECgene alternative splicing isoforms for LRP8

    (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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    LRP8 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTGTGGATGA
    LRP8 Expression
    About this image


    LRP8 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Adult Endothelial Cells Blood Brain Barrier
             Cerebral Cortex
     
     Endothelium (Cardiovascular System)    fully expand to see all 3 entries
             Adult Endothelial Cells Blood Brain Barrier
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
             Human embryonic stem cells (family)
     
     Bone (Muscoskeletal System)
             Zeugopod Growth Plate
     
     Blood (Cardiovascular System)
             Conventional Dendritic Cells II Spleen
    LRP8 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    LRP8 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.280387

    UniProtKB/Swiss-Prot: LRP8_HUMAN, Q14114
    Tissue specificity: Expressed mainly in brain and placenta. Also expressed in platelets and megakaryocytic cells.
    Not expressed in the liver

        Pathway & Disease-focused RT2 Profiler PCR Array including LRP8: 
              Alzheimer's Disease in human mouse rat

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    (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

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    This gene was present in the common ancestor of animals.

    Orthologs for LRP8 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Lrp81 , 5 low density lipoprotein receptor-related protein 8, more1, 5 85.48(n)1
    87.59(a)1
      4 (50.18 cM)5
    169751  NM_001080926.11  NP_001074395.11 
     1078022615 
    chicken
    (Gallus gallus)
    Aves LRP81 low density lipoprotein receptor-related protein 8, more 70.97(n)
    73.6(a)
      396102  NM_205186.1  NP_990517.1 
    lizard
    (Anolis carolinensis)
    Reptilia LRP86
    low density lipoprotein receptor-related protein 8...
    69(a)
    1 ↔ 1
    4(115063613-115297371)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia lrp81 low density lipoprotein receptor-related protein 8, more 65.1(n)
    67.37(a)
      100489827  XM_004914015.1  XP_004914072.1 
    zebrafish
    (Danio rerio)
    Actinopterygii apoer21 apolipoprotein E receptor 2 64.08(n)
    61.76(a)
      557734  NM_001256393.1  NP_001243322.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG48613 low-density lipoprotein receptor 33(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea T13C2.66
    Protein T13C2.6, isoform b (T13C2.6) mRNA, complet...
    33(a)
    1 → many
    II(6783427-6788459) WBGene00020481


    ENSEMBL Gene Tree for LRP8 (if available)
    TreeFam Gene Tree for LRP8 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for LRP8 gene
    LRP62  LRP52  LRP22  LRP1B2  EGF2  LDLR2  LRP5L2  LRP42  
    VLDLR2  NID12  NID22  LRP12  
    13 SIMAP similar genes for LRP8 using alignment to 7 protein entries:     LRP8_HUMAN (see all proteins):
    ldlr    LDLR    VLDLR    LRP5L    PROS1    LRP5
    LRP4    LRP6    SCUBE2    LRP2    LRP1    LRP1B
    CD320

    Find genes that share paralogs with LRP8           About GenesLikeMe



    (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 LRP8 (see all 1749)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs51741,2,,4
    C,F,A,Hother153792369(-) CCAGCA/GAGTGG 8 Q R mis1 ese332Minor allele frequency- N:0.00MN NS EA NA CSA WA EU 8917
    rs567229191,2
    C--51824207(+) CACAC-/AC/ACAC/ACAC
    AC
    /ATATACAC/TA
    GTGGC
    20 -- ut31 cds11NA 2
    rs568763351,2
    C--51824209(+) ATATA-/ATATACAC/TA/
    TACACA
    /TATACACA
    CACAC
    16 -- ut31 cds11NA 2
    rs347908671,2
    C--51847529(+) CCTTT-/CTGCCC 4 -- int11Minor allele frequency- C:0.00CSA 2
    rs726379971,2
    --51847529(+) CCTTTC/TTGCCC 4 -- int10--------
    rs753089701,2
    C--51849711(+) GATTT-/GTTATA 4 -- int10--------
    rs1135451901,2
    C,F--51865111(+) CTACAC/TACCCG 4 -- int12Minor allele frequency- T:0.50NA 4
    rs1129024591,2
    C,F--51865139(+) CTACAC/TACCCG 4 -- int12Minor allele frequency- T:0.50NA 4
    rs1864316461,2
    C--51865143(+) ATACCC/TGGGCC 4 -- int10--------
    rs349411911,2
    C--51865183(+) CTTACC/TTACTA 4 -- int11Minor allele frequency- T:0.00NA 2

    HapMap Linkage Disequilibrium report for LRP8 (53708036 - 53793821 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for LRP8:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2748207CNV Deletion23290073
    esv2748218CNV Deletion23290073
    esv2748229CNV Deletion23290073
    esv2748240CNV Deletion23290073
    esv2422213CNV Duplication17116639
    nsv509258CNV Insertion20534489
    nsv509269CNV Insertion20534489
    nsv829871CNV Loss17160897
    esv21984CNV Loss19812545
    nsv461483CNV Gain19166990

    Human Gene Mutation Database (HGMD): LRP8
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing LRP8
    DNA2.0 Custom Variant and Variant Library Synthesis for LRP8

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 602600   
    OMIM disorders: 608446  
    UniProtKB/Swiss-Prot: LRP8_HUMAN, Q14114
  • Myocardial infarction 1 (MCI1) [MIM:608446]: A condition defined by the irreversible necrosis of heart
    muscle secondary to prolonged ischemia. Note=The disease is caused by mutations affecting the gene represented in
    this entry

  • 6 diseases for LRP8:    
    About MalaCards
    myocardial infarction, susceptibility to, 1    major depressive disorder    lissencephaly with cerebellar hypoplasia    osteoporosis-pseudoglioma syndrome
    myocardial infarction    lissencephaly


    Find genes that share disorders with LRP8           About GenesLikeMe

    1 Novoseek inferred disease relationship for LRP8 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    alzheimers disease 40.4 6 12399018 (2), 20208369 (1)

    Genetic Association Database (GAD): LRP8
    Human Genome Epidemiology (HuGE) Navigator: LRP8 (14 documents)

    Export disorders for LRP8 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

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    PubMed articles for LRP8 gene, integrated from 10 sources (see all 140):
    (articles sorted by number of sources associating them with LRP8)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Low-density lipoprotein receptor-related protein 8 (apolipoprotein E receptor 2) gene polymorphisms in Alzheimer's disease. (PubMed id 12399018)1, 2, 4, 9 Ma S.L....Lam L.C. (Neurosci. Lett. 2002)
    2. Human apolipoprotein E receptor 2. A novel lipoprotein receptor of the low density lipoprotein receptor family predominantly expressed in brain. (PubMed id 8626535)1, 2, 3, 9 Kim D.-H.... Yamamoto T. (J. Biol. Chem. 1996)
    3. Exon/intron organization, chromosome localization, alternative splicing, and transcription units of the human apolipoprotein E receptor 2 gene. (PubMed id 9079678)1, 2, 3, 9 Kim D.-H.... Yamamoto T.T. (J. Biol. Chem. 1997)
    4. An LRP8 variant is associated with familial and premature coronary artery disease and myocardial infarction. (PubMed id 17847002)1, 2, 4 Shen G.-Q.... Wang Q.K. (Am. J. Hum. Genet. 2007)
    5. Differential binding of ligands to the apolipoprotein E receptor 2. (PubMed id 12899622)1, 2, 9 Andersen O.M.... Willnow T.E. (Biochemistry 2003)
    6. Identification of a novel exon in apolipoprotein E receptor 2 leading to alternatively spliced mRNAs found in cells of the vascular wall but not in neuronal tissue. (PubMed id 11152697)1, 2, 9 Korschineck I.... Binder B.R. (J. Biol. Chem. 2001)
    7. Expression and alternate splicing of apolipoprotein E receptor 2 in brain. (PubMed id 10218790)1, 2, 9 Clatworthy A.E.... Rebeck G.W. (Neuroscience 1999)
    8. 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)
    9. Domains of apoE required for binding to apoE receptor 2 and to phospholipids: implications for the functions of apoE in the brain. (PubMed id 12950167)1, 2, 9 Li X.... Zannis V. (Biochemistry 2003)
    10. Additive effect of LRP8/APOER2 R952Q variant to APOE epsilon2/epsilon3/epsilon4 genotype in modulating apolipoprotein E concentration and the risk of myocardial infarction: a case-control study. (PubMed id 19439088)1, 4, 9 Martinelli N....Girelli D. (BMC Med. Genet. 2009)

    (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: 7804 HGNC: 6700 AceView: LRP8 Ensembl:ENSG00000157193 euGenes: HUgn7804
    ECgene: LRP8 H-InvDB: LRP8

    (According to HUGE)
    About This Section

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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 LRP8 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for LRP8 gene:
    Search GeneIP for patents involving LRP8

    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, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, 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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