LRP8 Gene (Protein Coding)

LDL Receptor Related Protein 8

GC01M053243
GIFtS:
44
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 sign... See more...

Aliases for LRP8 Gene

Aliases for LRP8 Gene

  • LDL Receptor Related Protein 8 2 3 5
  • APOER2 2 3 4
  • LRP-8 2 3 4
  • Low Density Lipoprotein Receptor-Related Protein 8, Apolipoprotein E Receptor 2 3
  • Low-Density Lipoprotein Receptor-Related Protein 8 3 4
  • HSZ75190 2 3
  • MCI1 2 3
  • Apolipoprotein E Receptor 2 4
  • ApoE Receptor 2 3
  • LRP8 5

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 Osteoporosis-Pseudoglioma Syndrome. Among its related pathways are Signaling by GPCR and Response to elevated platelet cytosolic Ca2+. Gene Ontology (GO) annotations related to this gene include calcium ion binding and kinesin binding. An important paralog of this gene is VLDLR.

UniProtKB/Swiss-Prot Summary 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. Not required for endocytic uptake of SEPP1 in the kidney which is mediated by LRP2 (By similarity). Together with its ligand, apolipoprotein E (apoE), may indirectly play a role in the suppression of the innate immune response by controlling the survival of myeloid-derived suppressor cells (By similarity).

Gene Wiki entry for LRP8 Gene

Additional gene information for LRP8 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LRP8 Gene

Genomics for LRP8 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for LRP8 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LRP8 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LRP8

Top Transcription factor binding sites by QIAGEN in the LRP8 gene promoter:
  • RORalpha1
  • USF-1
  • USF-1:USF-2
  • USF1
  • USF2

Genomic Locations for LRP8 Gene

Latest Assembly
chr1:53,242,364-53,328,469
(GRCh38/hg38)
Size:
86,106 bases
Orientation:
Minus strand

Previous Assembly
chr1:53,708,036-53,793,742
(GRCh37/hg19 by Entrez Gene)
Size:
85,707 bases
Orientation:
Minus strand

chr1:53,711,217-53,793,742
(GRCh37/hg19 by Ensembl)
Size:
82,526 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 Structure • Gene Density

RefSeq DNA sequence for LRP8 Gene

Proteins for LRP8 Gene

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  • 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. Interacts with MDK; this interaction is calcium dependent (By similarity).
    SequenceCaution:
    • Sequence=CAA99509.1; Type=Frameshift; Evidence={ECO:0000305};
    Miscellaneous:
    • Natural isoforms of apoE (E2, E3, E4) have similar affinities for LRP8.
    • [Isoform 5]: Contains an insert in the extracellular part which carries a furin cleavage site.

    Three dimensional structures from OCA and Proteopedia for LRP8 Gene

    Alternative splice isoforms for LRP8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for LRP8 Gene

Protein Expression for LRP8 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for LRP8 Gene

  • O-glycosylated. Some alternatively spliced isoforms lack the O-linked sugar domain (By similarity).
  • 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).
  • Tyrosine phosphorylated upon apoE binding.
  • Ubiquitinated by MYLIP leading to degradation.
  • Glycosylation at Thr85, Asn176, Asn441, Asn518, Asn538, Asn772, and Asn807
  • Modification sites at PhosphoSitePlus

Other Protein References for LRP8 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for LRP8 Gene

Domains & Families for LRP8 Gene

Gene Families for LRP8 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Predicted secreted proteins

Protein Domains for LRP8 Gene

InterPro:
Blocks:
  • Aspartic acid and asparagine hydroxylation site
  • EGF-like calcium-binding
  • Low density lipoprotein-receptor, class A
  • Low-density lipoprotein receptor, YWTD repeat
ProtoNet:

Suggested Antigen Peptide Sequences for LRP8 Gene

GenScript: Design optimal peptide antigens:
  • Low density lipoprotein receptor-related protein 8, apolipoprotein e receptor, isoform CRA_e (D3DQ39_HUMAN)
  • Apolipoprotein E receptor 2 (LRP8_HUMAN)

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.
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).
Family:
  • Belongs to the LDLR family.
genes like me logo Genes that share domains with LRP8: view

Function for LRP8 Gene

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Molecular function for LRP8 Gene

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. Not required for endocytic uptake of SEPP1 in the kidney which is mediated by LRP2 (By similarity). Together with its ligand, apolipoprotein E (apoE), may indirectly play a role in the suppression of the innate immune response by controlling the survival of myeloid-derived suppressor cells (By similarity).
GENATLAS Biochemistry:
low density lipoprotein receptor-related protein 8

Phenotypes From GWAS Catalog for LRP8 Gene

Gene Ontology (GO) - Molecular Function for LRP8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001540 amyloid-beta binding IEA --
GO:0004888 transmembrane signaling receptor activity TAS 8626535
GO:0005041 low-density lipoprotein particle receptor activity TAS 20005821
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IEA,IPI 12950167
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:

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LRP8

Clone products for research

  • Addgene plasmids for LRP8

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LRP8 gene
Compartment Confidence
plasma membrane 5
extracellular 4
cytoskeleton 3
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
endosome 2
cytosol 2
lysosome 2
golgi apparatus 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for LRP8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IEA --
GO:0005875 microtubule associated complex IEA --
GO:0005886 plasma membrane NAS,TAS --
GO:0005901 caveola IDA 11369809
genes like me logo Genes that share ontologies with LRP8: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for LRP8 Gene

Pathways & Interactions for LRP8 Gene

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

Pathways by source for LRP8 Gene

2 Qiagen pathways for LRP8 Gene
  • Guidance Cues and Growth Cone Motility
  • Reelin Pathway (Cajal-Retzius cells)

SIGNOR curated interactions for LRP8 Gene

Is inactivated by:

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 TAS,NAS 11152697
GO:0006897 endocytosis IEA,IDA 8626535
GO:0007165 signal transduction TAS --
genes like me logo Genes that share ontologies with LRP8: view

Drugs & Compounds for LRP8 Gene

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(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

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mRNA/cDNA for LRP8 Gene

4 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
36 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LRP8

Clone products for research

  • Addgene plasmids for LRP8

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

Expression for LRP8 Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for LRP8 Gene

mRNA expression in normal human tissues for LRP8 Gene
mRNA expression by BioGPS for LRP8 GenemRNA expression by GTEx 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, MaxQB, and MOPED for LRP8 Gene



Protein tissue co-expression partners for LRP8 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LRP8

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.

Evidence on tissue expression from TISSUES for LRP8 Gene

  • Blood(4.4)
  • Eye(4.3)
  • Lung(4.3)
  • Nervous system(3.4)
  • Thyroid gland(2.4)
  • Kidney(2)
  • Liver(2)
  • Heart(2)
genes like me logo Genes that share expression patterns with LRP8: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for LRP8 Gene

Orthologs for LRP8 Gene

This gene was present in the common ancestor of animals.

Orthologs for LRP8 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia LRP8 30 31
  • 98.72 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia LRP8 30 31
  • 91.38 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia LRP8 30 31
  • 86.35 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Lrp8 30 17 31
  • 85.48 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Lrp8 30
  • 84.75 (n)
Oppossum
(Monodelphis domestica)
 Mammalia LRP8 31
  • 72 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia LRP8 31
  • 52 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves LRP8 30 31
  • 70.97 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia LRP8 31
  • 69 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia lrp8 30
  • 65.1 (n)
Zebrafish
(Danio rerio)
 Actinopterygii apoer2 30
  • 64.08 (n)
lrp8 31
  • 55 (a)
 OneToOne
Fruit Fly
(Drosophila melanogaster)
 Insecta CG4861 32
  • 33 (a)
LpR2 31
  • 31 (a)
 ManyToMany
LpR1 31
  • 31 (a)
 ManyToMany
Worm
(Caenorhabditis elegans)
 Secernentea T13C2.6 31
  • 33 (a)
 OneToMany
Species where no ortholog for LRP8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for LRP8: view image

Paralogs for LRP8 Gene

Paralogs for LRP8 Gene

(13) SIMAP similar genes for LRP8 Gene using alignment to 7 proteins:

  • LRP8_HUMAN
  • D3DQ39_HUMAN
  • E9PKG2_HUMAN
  • E9PP15_HUMAN
  • H0YCA4_HUMAN
  • H0YEA5_HUMAN
  • H0YEV6_HUMAN
genes like me logo Genes that share paralogs with LRP8: view

Variants for LRP8 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LRP8 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs148468730 Benign: not provided 53,280,600(-) G/C
NM_004631.5(LRP8):c.483C>G (p.Ala161=) 		SYNONYMOUS
rs185254863 Benign: not provided 53,271,243(-) G/A
NM_004631.5(LRP8):c.1110C>T (p.Asp370=) 		SYNONYMOUS
rs186786897 Benign: not provided 53,262,213(-) G/A
NM_004631.5(LRP8):c.1775-6C>T 		INTRON
rs5172 Benign: not provided. -. - 53,258,321(-) C/Tp.Gln607Argp.Arg736Gln
NM_004631.5(LRP8):c.2207G>A (p.Arg736Gln) 		MISSENSE
rs5173 Benign: not provided 53,250,819(-) T/C
NM_004631.5(LRP8):c.2547A>G (p.Arg849=) 		SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for LRP8 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
dgv165n100 CNV gain 25217958
dgv89e59 CNV duplication 20981092
esv21984 CNV loss 19812545
esv2422213 CNV duplication 17116639
esv2748207 CNV deletion 23290073
esv2748218 CNV deletion 23290073
esv2748229 CNV deletion 23290073
esv2748240 CNV deletion 23290073
esv3577864 CNV loss 25503493
nsv1001535 CNV gain 25217958
nsv1011750 CNV gain 25217958
nsv1075926 CNV deletion 25765185
nsv461483 CNV gain 19166990
nsv509258 CNV insertion 20534489
nsv509269 CNV insertion 20534489
nsv546257 CNV gain 21841781
nsv829871 CNV loss 17160897

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)

Additional Variant Information for LRP8 Gene

Human Gene Mutation Database (HGMD)
LRP8
SNPedia medical, phenotypic, and genealogical associations of SNPs for
LRP8

SNP Genotyping and Copy Number Assays for research

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

Disorders for LRP8 Gene

MalaCards: The human disease database

(10) MalaCards diseases for LRP8 Gene - From: OMI, CVR, GTR, COP, and GCD

Disorder Aliases PubMed IDs
myocardial infarction
  • myocardial infarction, susceptibility to
osteoporosis-pseudoglioma syndrome
  • oppg
lissencephaly
major depressive disorder
  • mdd
cerebellar hypoplasia
- 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 variants affecting the gene represented in this entry.

Additional Disease Information for LRP8

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

No data available for Genatlas for LRP8 Gene

Publications for LRP8 Gene

  1. An LRP8 variant is associated with familial and premature coronary artery disease and myocardial infarction. (PMID: 17847002) Shen GQ … Wang QK (American journal of human genetics 2007) 3 4 41 74
  2. Low-density lipoprotein receptor-related protein 8 (apolipoprotein E receptor 2) gene polymorphisms in Alzheimer's disease. (PMID: 12399018) Ma SL … Lam LC (Neuroscience letters 2002) 3 4 23 41
  3. Exon/intron organization, chromosome localization, alternative splicing, and transcription units of the human apolipoprotein E receptor 2 gene. (PMID: 9079678) Kim DH … Yamamoto TT (The Journal of biological chemistry 1997) 2 3 4 23
  4. Human apolipoprotein E receptor 2. A novel lipoprotein receptor of the low density lipoprotein receptor family predominantly expressed in brain. (PMID: 8626535) Kim DH … Yamamoto T (The Journal of biological chemistry 1996) 2 3 4 23
  5. 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. (PMID: 19439088) Martinelli N … Girelli D (BMC medical genetics 2009) 3 23 41

ExternalLinks

View latest publications for LRP8 gene in Mastermind

Products for LRP8 Gene

  • Addgene plasmids for LRP8

Sources for LRP8 Gene