Aliases for LRP8 Gene
Aliases for LRP8 Gene
External Ids for LRP8 Gene
- HGNC: 6700
- Entrez Gene: 7804
- Ensembl: ENSG00000157193
- OMIM: 602600
- UniProtKB: Q14114
Previous GeneCards Identifiers for LRP8 Gene
- GC01M053346
- GC01M052600
- GC01M053069
- GC01M053081
- GC01M053423
- GC01M053483
- GC01M053711
- GC01M051826
Summaries 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 Metabolism of fat-soluble vitamins and Signaling by GPCR. GO annotations related to this gene include calcium ion binding and kinesin binding. An important paralog of this gene is VLDLR.
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.
No data available for CIViC summary , 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
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around LRP8 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the LRP8 gene promoter:
Regulatory Element Products
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:
-
- 1p32.3 by Ensembl
- 1p32.3 by Entrez Gene
- 1p32.3 by HGNC
LRP8 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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};
Protein Expression for LRP8 Gene
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 Thr85, posLast=176176, Asn441, Asn518, posLast=538538, posLast=772772, and posLast=807807
- Modification sites at PhosphoSitePlus
Other Protein References for LRP8 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for LRP8
-
Cloud-Clone Corp. Antibodies for LRP8
- Invitrogen Antibodies for LRP8
- antibodies-online Antibodies for LRP8: See all 90
- GeneTex LRP8 antibody for LRP8
-
Santa Cruz Biotechnology (SCBT) Antibodies for LRP8
Protein Products
- R&D Systems Proteins and Enzymes for LRP8 (Apolipoprotein E R2/ApoE R2)
-
OriGene Purified Proteins for LRP8
- Search Origene for MassSpec and Protein Over-expression Lysates for LRP8
- Origene Custom Protein Services for LRP8
-
Cloud-Clone Corp. Proteins for LRP8
- antibodies-online Proteins for LRP8: See all 6
- Search antibodies-online for peptides
- Search GeneTex for Proteins for LRP8
Assay Products
- antibodies-online Kits for LRP8: See all 6
No data available for DME Specific Peptides for LRP8 Gene
Domains & Families for LRP8 Gene
Gene Families for LRP8 Gene
Protein Domains for LRP8 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for LRP8 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q14114UniProtKB/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.
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.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004888 | transmembrane signaling receptor activity | TAS | 8626535 |
| GO:0005041 | low-density lipoprotein receptor activity | TAS | -- |
| GO:0005509 | calcium ion binding | IEA | -- |
| GO:0005515 | protein binding | IPI | 12950167 |
| GO:0008035 | high-density lipoprotein particle binding | IEA | -- |
Phenotypes for LRP8 Gene
- MGI mutant phenotypes for LRP8:
- inferred from 5 alleles
- GenomeRNAi human phenotypes for LRP8:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for LRP8
-
-
ViGene Biosciences lentiviral particle packaged cDNA for LRP8 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for LRP8 gene
- Search ViGene Biosciences for LRP8
CRISPR Products
-
OriGene CRISPR knockouts for LRP8
-
Santa Cruz Biotechnology (SCBT) CRISPR for LRP8
- GenScript: Design CRISPR guide RNA sequences for LRP8
miRNA for LRP8 Gene
- miRTarBase miRNAs that target LRP8
-
- hsa-mir-130b-3p (MIRT020152)
- hsa-mir-215-5p (MIRT024366)
- hsa-mir-192-5p (MIRT026507)
- hsa-mir-19b-3p (MIRT031127)
- hsa-mir-30b-5p (MIRT046111)
- hsa-mir-4789-5p (MIRT072052)
- hsa-mir-377-3p (MIRT140086)
- hsa-mir-374a-5p (MIRT440313)
- hsa-mir-190a-3p (MIRT522732)
- hsa-mir-3119 (MIRT522733)
- hsa-mir-5011-5p (MIRT522734)
- hsa-mir-1277-5p (MIRT522735)
- hsa-mir-3941 (MIRT611469)
- hsa-mir-603 (MIRT611470)
- hsa-mir-362-3p (MIRT611471)
- hsa-mir-329-3p (MIRT611472)
- hsa-mir-8485 (MIRT611473)
- hsa-mir-4789-3p (MIRT656638)
miRNA Products
- Search ViGene Biosciences for LRP8
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for LRP8
- Browse OriGene Inhibitory RNA Products For LRP8
-
ViGene Biosciences ready-to-package AAV shRNAs for LRP8 gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for LRP8
- VectorBuilder custom plasmid, inducible vectors for LRP8
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for LRP8
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for LRP8
-
ViGene Biosciences adenoviral particle packaged cDNA for LRP8 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for LRP8 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for LRP8 gene
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}.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 4 |
| cytoskeleton | 3 |
| endoplasmic reticulum | 2 |
| mitochondrion | 1 |
| nucleus | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
| endosome | 1 |
| 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:0014069 | postsynaptic density | IEA | -- |
Pathways & Interactions for LRP8 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Metabolism of fat-soluble vitamins | ||
| 2 | Platelet homeostasis | ||
| 3 | Guidance Cues and Growth Cone Motility | ||
| 4 | Reelin Pathway (Cajal-Retzius cells) | ||
| 5 | Response to elevated platelet cytosolic Ca2+ |
.44
|
|
Pathways by source for LRP8 Gene
2 BioSystems pathways for LRP8 Gene
9 Reactome pathways for LRP8 Gene
2 Qiagen pathways for LRP8 Gene
Interacting Proteins for LRP8 Gene
Selected Interacting proteins:
ENSP00000303634
Q14114-LRP8_HUMAN
for LRP8 Gene via
STRING
IID
UniProtKB
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000122 | negative regulation of transcription from RNA polymerase II promoter | ISS | -- |
| GO:0001523 | retinoid metabolic process | TAS | -- |
| GO:0006508 | proteolysis | NAS | 11152697 |
| GO:0006629 | lipid metabolic process | NAS,TAS | 11152697 |
| GO:0006897 | endocytosis | IEA,IDA | 8626535 |
No data available for SIGNOR curated interactions for LRP8 Gene
Transcripts for LRP8 Gene
mRNA/cDNA for LRP8 Gene
- (16) REFSEQ mRNAs :
- (5) Additional mRNA sequences :
- (83) Selected AceView cDNA sequences:
- (12) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for LRP8 Gene
CRISPR Products
-
OriGene CRISPR knockouts for LRP8
-
Santa Cruz Biotechnology (SCBT) CRISPR for LRP8
- GenScript: Design CRISPR guide RNA sequences for LRP8
miRNA Products
- Search ViGene Biosciences for LRP8
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for LRP8
- Browse OriGene Inhibitory RNA Products For LRP8
-
ViGene Biosciences ready-to-package AAV shRNAs for LRP8 gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for LRP8
- VectorBuilder custom plasmid, inducible vectors for LRP8
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for LRP8
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Flow Cytometry Products
| 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: |
Expression for LRP8 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Brain (Nervous System)
- Mature Endothelial Cells Blood Brain Barrier
- Endothelial Cells Blood Brain Barrier
- Adult Endothelial Cells Blood Brain Barrier
- Cerebral Cortex
-
Endothelium (Cardiovascular System)
- Mature Endothelial Cells Blood Brain Barrier
- Endothelial Cells Blood Brain Barrier
- Adult Endothelial Cells Blood Brain Barrier
- Inner Cell Mass (Early Embryonic Tissues)
- Spleen (Hematopoietic System)
- Blood (Cardiovascular System)
- Bone (Muscoskeletal System)
-
Testis (Reproductive System)
mRNA differential expression in normal tissues according to GTEx for LRP8 Gene
This gene is overexpressed in Thyroid (x4.9) and Testis (x4.2).
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, MaxQB, and MOPED for LRP8 Gene
NURSA nuclear receptor signaling pathways regulating expression of LRP8 Gene:
LRP8SOURCE GeneReport for Unigene cluster for LRP8 Gene:
Hs.280387mRNA 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(4.3)
- Eye(4.1)
- Lung(4.1)
- Nervous system(3.4)
Primer Products
-
OriGene qPCR primer pairs for LRP8
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | LRP8 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | LRP8 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | LRP8 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Lrp8 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Lrp8 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | LRP8 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | LRP8 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | LRP8 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | LRP8 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | lrp8 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | apoer2 34 |
|
||
| lrp8 35 |
|
OneToOne | |||
| fruit fly (Drosophila melanogaster) |
Insecta | CG4861 36 |
|
|
|
| LpR1 35 |
|
ManyToMany | |||
| LpR2 35 |
|
ManyToMany | |||
| worm (Caenorhabditis elegans) |
Secernentea | T13C2.6 35 |
|
OneToMany |
- Species where no ortholog for LRP8 was found in the sources mined by GeneCards:
-
- 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)
Paralogs for LRP8 Gene
(13) SIMAP similar genes for LRP8 Gene using alignment to 7 proteins:
Variants for LRP8 Gene
| SNP ID | Clin | Chr 01 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs5174 | other | 53,247,055(-) | CCAGC(A/G)AGTGG | reference, missense | |
| rs1000018656 | -- | 53,326,619(+) | GCCTT(C/T)CTCCT | intron-variant, upstream-variant-2KB | |
| rs1000027267 | -- | 53,282,197(+) | GGACA(C/T)CACTA | intron-variant | |
| rs1000058365 | -- | 53,281,903(+) | GAGCA(A/C)TGCTG | intron-variant | |
| rs1000063384 | -- | 53,323,661(+) | CATCC(C/T)GCAAG | intron-variant |
| 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 |
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
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LRP8 Gene
Disorders for LRP8 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| myocardial infarction |
|
|
| myocardial infarction, susceptibility to, 1 |
|
|
| osteoporosis-pseudoglioma syndrome |
|
|
| lissencephaly |
|
|
| lissencephaly with cerebellar hypoplasia |
|
|
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
No data available for Genatlas for LRP8 Gene
Publications for LRP8 Gene
- 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 22 46 64
- 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 4 22 64
- 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 4 22 64
- Low-density lipoprotein receptor-related protein 8 gene polymorphisms and dementia. (PMID: 17614163) Helbecque N. … Amouyel P. (Neurobiol. Aging 2009) 3 22 46 64
- 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 Med. Genet. 2009) 3 22 46 64
Products for LRP8 Gene
- Browse R&D Systems for Antibodies
- R&D Systems Proteins and Enzymes for LRP8 (Apolipoprotein E R2/ApoE R2)
- Browse R&D Systems for biochemical assays
- Browse Primary Antibodies
- Browse Proteins and Enzymes
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- OriGene Purified Proteins for LRP8
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- GenScript: Next-day shipping cDNA ORF clone for LRP8 in any vector
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- GenScript: Design CRISPR guide RNA sequences for LRP8
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- CloneReady with Over 120,000 Genes
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- Novus Biologicals Antibodies for LRP8
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- Novus Biologicals
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- Cloud-Clone Corp. Antibodies for LRP8
- Cloud-Clone Corp. Proteins for LRP8
- Browse Assay Kits at Cloud-Clone Corp.
- Addgene plasmids for LRP8
- antibodies-online Antibodies for LRP8: See all 90
- antibodies-online Kits for LRP8: See all 6
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- Search antibodies-online for peptides
- GeneTex LRP8 antibody for LRP8
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- ViGene Biosciences adenoviral particle packaged cDNA for LRP8 gene
- ViGene Biosciences lentiviral particle packaged cDNA for LRP8 gene
- ViGene Biosciences ready-to-package AAV shRNAs for LRP8 gene
- Search ViGene Biosciences for LRP8
- Santa Cruz Biotechnology (SCBT) Antibodies for LRP8
- Search Santa Cruz Biotechnology (SCBT) for LRP8 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for LRP8
- Horizon Cell Lines for LRP8
- Cyagen custom Knockout/knockin (KOKI) mouse models for LRP8
- VectorBuilder custom plasmid, inducible vectors for LRP8
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for LRP8
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for LRP8 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
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- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
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- (140) FANTOM5
- (141) ENCODE
- (142) ProSci
- (143) Horizon
- (144) NURSA
- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer