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FLASH GENE
Symbol LRP8 contributors: mct/ - updated : 07-03-2017
HGNC name low density lipoprotein receptor-related protein 8, apolipoprotein e receptor
HGNC id 6700
Location 1p32.3      Physical location : 53.711.211 - 53.793.821
Synonym name
  • apolipoprotein E receptor 2
  • low-density lipoprotein receptor-related protein 8
  • Synonym symbol(s) APOER2, HSZ75190, MCI1
    DNA
    TYPE functioning gene
    STRUCTURE 82.61 kb     19 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    19 - 4528 102 963 - 1997 9079678
    17 - 4097 83.7 793 - 1997 9079678
    16 - 3739 74.4 700 - 1997 9079678
    18 - 4351 95.7 904 - 2006 16481437
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinelarge intestinecolon highly
    Endocrinethyroid   highly
    Nervousbrain     Homo sapiensFetal
    Reproductivemale systemtestis   
    Visualeyeretina  lowly Homo sapiensAdult
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone  highly
    Muscularsmooth   
    Muscularstriatumcardiac  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period perinatal, neonatal
    Text
  • highest expression during postnatal inner retinal synaptic development and was considerably lower in the mature retina (
  • PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a ligand-binding domain consisting of cysteine-rich repeats
  • an EGF-like homology domain
  • an 0-linked sugar domain
  • eight LDL receptor class a domains
  • 6 LDL-receptor class b domains
  • three EGF-like domains
  • a transmembrane segment
  • a cytoplasmic short tail with a NPY internalization domain
  • HOMOLOGY
    intraspecies homolog to low density lipoprotein receptor 8 (LDLR)
    homolog to LDLR, VLDLR, highly
    Homologene
    FAMILY
  • LDLR family
  • CATEGORY receptor
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
        intracellular
    basic FUNCTION
  • inducing tyrosine phosphorylation of DAB1 and modulation of tau phosphorylation
  • possible signaling role for LRP8 in sperm development and function that is independent of selenium uptake (
  • LRP8, and LRP2 mediate tissue-specific SEPP1 uptake
  • plays important roles in structure and function of CNS synapses and dendritic spines, and these roles are modulated by cytoplasmic adaptor proteins APBA1 and DLG4
  • is essential to protect the root surface from resorption
  • pivotal role in the establishment and maintenance of normal retinal synaptic connectivity
  • positive regulator of Wnt/CTNNB1 signaling
  • novel positive factor of canonical Wnt signaling pathway and involved in Wnt-induced osteoblast differentiation
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • reelin
  • proteolytic cleavage of RELN and alternative splicing of LRP8 may be involved in the fine regulation of RLN signaling
  • platelet receptor for FXI
  • RELN and apolipoprotein E (apoE), ligands of LRP8, are involved in retinal development and degeneration, respectively
  • is being the main receptor responsible for RELN mediated detachment of neuroblasts and correct migration of early generated interneurons within the olfactory bulb (OB), a prerequisite for correct OB lamination
  • HIC1 is a direct transcriptional repressor of LRP8 and VLDLR
  • CLU binds to apolipoprotein E receptor 2 (LRP8) and very low density lipoprotein receptor (VLDLR) and is internalized by cells expressing either one of these receptors
  • RELN governs cell migration through activation of multiple intracellular signaling events by means of the receptors LRP8 and VLDLR, and the intracellular adaptor protein Disabled-1 (DAB1)
  • SFRS11 directly binds to the 3' UTR of LRP8 mRNA, as well as to the third exon of APOE mRNA, resulting in stabilization of these mRNAs, eventually deactivating JNK signaling
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
  • to fetal growth restriction
  • to premature coronary artery disease, and/or myocardial infarction
  • Variant & Polymorphism SNP , other
  • associated with fetal growth restriction
  • variants contributing to the development of premature and familial coronary artery disease, and/or myocardial infarction
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS