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Aliases for LRP8 Gene

Aliases for LRP8 Gene

  • LDL Receptor Related Protein 8 2 3 5
  • Low Density Lipoprotein Receptor-Related Protein 8, Apolipoprotein E Receptor 2 3
  • APOER2 3 4
  • LRP-8 3 4
  • Apolipoprotein E Receptor 2 4
  • ApoE Receptor 2 3
  • HSZ75190 3
  • MCI1 3

External Ids for LRP8 Gene

Previous GeneCards Identifiers for LRP8 Gene

  • GC01M053346
  • GC01M052600
  • GC01M053069
  • GC01M053081
  • GC01M053423
  • GC01M053483
  • GC01M053711
  • GC01M051826

Summaries for LRP8 Gene

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 (LDL Receptor Related Protein 8) is a Protein Coding gene. Diseases associated with LRP8 include myocardial infarction and myocardial infarction, susceptibility to, 1. Among its related pathways are Guidance Cues and Growth Cone Motility and Reelin Pathway (Cajal-Retzius cells). GO annotations related to this gene include calcium ion binding and kinesin binding. An important paralog of this gene is LRP1B.

UniProtKB/Swiss-Prot for LRP8 Gene

  • 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 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LRP8 Gene

Genomics for LRP8 Gene

Regulatory Elements for LRP8 Gene

Enhancers for LRP8 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around LRP8 on UCSC Golden Path with GeneCards custom track

Promoters for LRP8 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around LRP8 on UCSC Golden Path with GeneCards custom track

Genomic Location for LRP8 Gene

Chromosome:
1
Start:
53,242,364 bp from pter
End:
53,328,149 bp from pter
Size:
85,786 bases
Orientation:
Minus strand

Genomic View for LRP8 Gene

Genes around LRP8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LRP8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LRP8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LRP8 Gene

Proteins for LRP8 Gene

  • Protein details for LRP8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14114-LRP8_HUMAN
    Recommended name:
    Low-density lipoprotein receptor-related protein 8
    Protein Accession:
    Q14114
    Secondary Accessions:
    • B1AMT6
    • B1AMT7
    • B1AMT8
    • O14968
    • Q86V27
    • Q99876
    • Q9BR78

    Protein attributes for LRP8 Gene

    Size:
    963 amino acids
    Molecular mass:
    105634 Da
    Quaternary structure:
    • 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.
    SequenceCaution:
    • Sequence=CAA99509.1; Type=Frameshift; Positions=430, 432, 438; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for LRP8 Gene

    Alternative splice isoforms for LRP8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for LRP8 Gene

Proteomics data for LRP8 Gene at MOPED

Post-translational modifications for LRP8 Gene

  • O-glycosylated. Some alternatively spliced isoforms lack the O-linked sugar domain (By similarity).
  • Tyrosine phosphorylated upon apoE binding.
  • Ubiquitinated by MYLIP leading to degradation.
  • 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).
  • Glycosylation at Thr 85, Asn 176, Asn 441, Asn 518, Asn 538, Asn 772, and Asn 807
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for LRP8 Gene

Domains & Families for LRP8 Gene

Gene Families for LRP8 Gene

Graphical View of Domain Structure for InterPro Entry

Q14114

UniProtKB/Swiss-Prot:

LRP8_HUMAN :
  • 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).
  • Belongs to the LDLR family.
  • Contains 5 LDL-receptor class B repeats.
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).
  • Contains 2 EGF-like domains.
  • Contains 7 LDL-receptor class A domains.
Family:
  • Belongs to the LDLR family.
Similarity:
  • Contains 5 LDL-receptor class B repeats.
genes like me logo Genes that share domains with LRP8: view

Function for LRP8 Gene

Molecular function for LRP8 Gene

GENATLAS Biochemistry:
low density lipoprotein receptor-related protein 8
UniProtKB/Swiss-Prot 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 Ontology (GO) - Molecular Function for LRP8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 12950167
GO:0034185 apolipoprotein binding IC 8626535
genes like me logo Genes that share ontologies with LRP8: view
genes like me logo Genes that share phenotypes with LRP8: view

Animal Models for LRP8 Gene

MGI Knock Outs for LRP8:

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for LRP8 Gene

Localization for LRP8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LRP8 Gene

Cell membrane; Single-pass type I membrane protein. Secreted. Note=Isoforms that contain the exon coding for a furin-type cleavage site are proteolytically processed, leading to a secreted receptor fragment. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for LRP8 Gene COMPARTMENTS Subcellular localization image for LRP8 gene
Compartment Confidence
plasma membrane 5
extracellular 4
cytoskeleton 3
endoplasmic reticulum 2
endosome 1
golgi apparatus 1
lysosome 1
mitochondrion 1
nucleus 1
vacuole 1

Gene Ontology (GO) - Cellular Components for LRP8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005875 microtubule associated complex IEA --
GO:0005886 plasma membrane TAS --
GO:0005901 caveola IDA 11369809
GO:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with LRP8: view

Pathways & Interactions for LRP8 Gene

genes like me logo Genes that share pathways with LRP8: view

Gene Ontology (GO) - Biological Process for LRP8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001523 retinoid metabolic process TAS --
GO:0006508 proteolysis NAS 11152697
GO:0006629 lipid metabolic process NAS 11152697
GO:0006898 receptor-mediated endocytosis IDA,TAS --
GO:0019221 cytokine-mediated signaling pathway NAS 11152697
genes like me logo Genes that share ontologies with LRP8: view

No data available for SIGNOR curated interactions for LRP8 Gene

Drugs & Compounds for LRP8 Gene

(4) Drugs for LRP8 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(5) Additional Compounds for LRP8 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with LRP8: view

Transcripts for LRP8 Gene

Unigene Clusters for LRP8 Gene

Low density lipoprotein receptor-related protein 8, apolipoprotein e receptor:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for LRP8 Gene

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:
SP6:
SP7: - - -
SP8: - -
SP9:

ExUns: 20 ^ 21 ^ 22a · 22b · 22c · 22d · 22e
SP1:
SP2: -
SP3: -
SP4: -
SP5:
SP6:
SP7:
SP8:
SP9:

Relevant External Links for LRP8 Gene

GeneLoc Exon Structure for
LRP8
ECgene alternative splicing isoforms for
LRP8

Expression for LRP8 Gene

mRNA expression in normal human tissues for LRP8 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for LRP8 Gene

This gene is overexpressed in Thyroid (x4.9) and Testis (x4.2).

Protein differential expression in normal tissues from HIPED for LRP8 Gene

This gene is overexpressed in Adipocyte (14.1), Bone marrow mesenchymal stem cell (9.7), and Heart (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for LRP8 Gene



SOURCE GeneReport for Unigene cluster for LRP8 Gene Hs.280387

mRNA Expression by UniProt/SwissProt for LRP8 Gene

Q14114-LRP8_HUMAN
Tissue specificity: Expressed mainly in brain and placenta. Also expressed in platelets and megakaryocytic cells. Not expressed in the liver.
genes like me logo Genes that share expression patterns with LRP8: view

Protein tissue co-expression partners for LRP8 Gene

Primer Products

In Situ Assay Products

Orthologs for LRP8 Gene

This gene was present in the common ancestor of animals.

Orthologs for LRP8 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia LRP8 35
  • 86.35 (n)
  • 85.55 (a)
LRP8 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LRP8 35
  • 91.38 (n)
  • 92.7 (a)
LRP8 36
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Lrp8 35
  • 85.48 (n)
  • 87.59 (a)
Lrp8 16
Lrp8 36
  • 87 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia LRP8 35
  • 98.72 (n)
  • 98.54 (a)
LRP8 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lrp8 35
  • 84.75 (n)
  • 84.79 (a)
oppossum
(Monodelphis domestica)
Mammalia LRP8 36
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LRP8 36
  • 52 (a)
OneToOne
chicken
(Gallus gallus)
Aves LRP8 35
  • 70.97 (n)
  • 73.6 (a)
LRP8 36
  • 70 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LRP8 36
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lrp8 35
  • 65.1 (n)
  • 67.37 (a)
zebrafish
(Danio rerio)
Actinopterygii apoer2 35
  • 64.08 (n)
  • 61.76 (a)
lrp8 36
  • 55 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG4861 37
  • 33 (a)
LpR1 36
  • 31 (a)
ManyToMany
LpR2 36
  • 31 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea T13C2.6 36
  • 33 (a)
OneToMany
Species with no ortholog for LRP8:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for LRP8 Gene

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

Paralogs for LRP8 Gene

Paralogs for LRP8 Gene

genes like me logo Genes that share paralogs with LRP8: view

Variants for LRP8 Gene

Sequence variations from dbSNP and Humsavar for LRP8 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
VAR_018468 -
rs5174 - 53,247,055(-) CCAGC(A/G)AGTGG reference, missense
VAR_037624 -
VAR_037625 -
VAR_037626 -, -

Structural Variations from Database of Genomic Variants (DGV) for LRP8 Gene

Variant ID Type Subtype PubMed ID
esv2422213 CNV Duplication 17116639
nsv829871 CNV Loss 17160897
nsv509258 CNV Insertion 20534489
esv2748207 CNV Deletion 23290073
esv2748218 CNV Deletion 23290073
esv2748229 CNV Deletion 23290073
esv2748240 CNV Deletion 23290073
nsv461483 CNV Gain 19166990
nsv509269 CNV Insertion 20534489
esv21984 CNV Loss 19812545

Variation tolerance for LRP8 Gene

Residual Variation Intolerance Score: 18.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.32; 81.45% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for LRP8 Gene

HapMap Linkage Disequilibrium report
LRP8
Human Gene Mutation Database (HGMD)
LRP8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LRP8 Gene

Disorders for LRP8 Gene

MalaCards: The human disease database

(6) MalaCards diseases for LRP8 Gene - From: OMIM, ClinVar, GeneTests, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search LRP8 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

LRP8_HUMAN
  • Myocardial infarction 1 (MCI1) [MIM:608446]: A condition defined by the irreversible necrosis of heart muscle secondary to prolonged ischemia. {ECO:0000269 PubMed:17847002}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for LRP8

Genetic Association Database (GAD)
LRP8
Human Genome Epidemiology (HuGE) Navigator
LRP8
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LRP8
genes like me logo Genes that share disorders with LRP8: view

No data available for Genatlas for LRP8 Gene

Publications for LRP8 Gene

  1. Low-density lipoprotein receptor-related protein 8 (apolipoprotein E receptor 2) gene polymorphisms in Alzheimer's disease. (PMID: 12399018) Ma S.L. … Lam L.C. (Neurosci. Lett. 2002) 3 4 23 48 67
  2. Exon/intron organization, chromosome localization, alternative splicing, and transcription units of the human apolipoprotein E receptor 2 gene. (PMID: 9079678) Kim D.-H. … Yamamoto T.T. (J. Biol. Chem. 1997) 2 3 23
  3. Human apolipoprotein E receptor 2. A novel lipoprotein receptor of the low density lipoprotein receptor family predominantly expressed in brain. (PMID: 8626535) Kim D.-H. … Yamamoto T. (J. Biol. Chem. 1996) 2 3 23
  4. Polymorphisms in the human apolipoprotein E receptor 2 gene in Japanese sporadic Alzheimer's disease patients. (PMID: 20208369) Hosoda A. … Saeki S. (Biosci. Biotechnol. Biochem. 2010) 3 23
  5. Low-density lipoprotein receptor-related protein 8 gene polymorphisms and dementia. (PMID: 17614163) Helbecque N. … Amouyel P. (Neurobiol. Aging 2009) 3 23

Products for LRP8 Gene

Sources for LRP8 Gene

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