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LRP8 LDL receptor related protein 8 [ Homo sapiens (human) ]

Gene ID: 7804, updated on 31-Mar-2024

Summary

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Official Symbol
LRP8provided by HGNC
Official Full Name
LDL receptor related protein 8provided by HGNC
Primary source
HGNC:HGNC:6700
See related
Ensembl:ENSG00000157193 MIM:602600; AllianceGenome:HGNC:6700
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MCI1; LRP-8; APOER2; HSZ75190
Summary
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]
Expression
Biased expression in thyroid (RPKM 23.6), testis (RPKM 14.4) and 4 other tissues See more
Orthologs
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Genomic context

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See LRP8 in Genome Data Viewer
Location:
1p32.3
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (53242364..53328070, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (53123827..53210280, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (53708036..53793742, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:53685707-53686208 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 904 Neighboring gene CXXC motif containing zinc binding protein Neighboring gene CZIB divergent transcript Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:53703843-53704484 Neighboring gene mago homolog, exon junction complex subunit Neighboring gene MAGOH divergent transcript Neighboring gene uncharacterized LOC105378728 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:53719456-53719559 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:53719749-53719966 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:53736648-53737148 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1044 Neighboring gene uncharacterized LOC105378726 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:53760223-53760764 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:53760765-53761305 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:53773439-53774256 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:53774971-53775472 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:53775473-53775972 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:53777583-53778082 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:53784579-53785264 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:53785265-53785950 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:53790955-53791710 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 905 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 906 Neighboring gene Sharpr-MPRA regulatory region 13758 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1045 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 907 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 908 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 909 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1046 Neighboring gene uncharacterized LOC105378731 Neighboring gene LRP8 divergent transcript Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:53805229-53805730 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1047 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr1:53816803-53817658 Neighboring gene long intergenic non-protein coding RNA 2812

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Human APOER2 Isoforms Have Differential Cleavage Events and Synaptic Properties. Omuro KC, et al. J Neurosci, 2022 May 18. PMID 35414534, Free PMC Article
  2. Genome-scale CRISPR activation screening identifies a role of LRP8 in Sorafenib resistance in Hepatocellular carcinoma. Cai J, et al. Biochem Biophys Res Commun, 2020 Jun 11. PMID 32312520
  3. LRP8 is overexpressed in estrogen-negative breast cancers and a potential target for these tumors. Maire V, et al. Cancer Med, 2019 Jan. PMID 30575334, Free PMC Article
  4. Targeting LRP8 inhibits breast cancer stem cells in triple-negative breast cancer. Lin CC, et al. Cancer Lett, 2018 Dec 1. PMID 30227220, Free PMC Article
  5. TG haplotype in the LRP8 is associated with myocardial infarction in south Indian population. Asif M, et al. Gene, 2018 Feb 5. PMID 29032149

See all (128) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The Reelin receptor ApoER2 is a cargo for the adaptor protein complex AP-4: Implications for Hereditary Spastic Paraplegia.
    Title: The Reelin receptor ApoER2 is a cargo for the adaptor protein complex AP-4: Implications for Hereditary Spastic Paraplegia.
  2. MiR-378a-5p exerts a radiosensitizing effect on CRC through LRP8/beta-catenin axis.
    Title: MiR-378a-5p exerts a radiosensitizing effect on CRC through LRP8/β-catenin axis.
  3. ApoER2-Dab1 disruption as the origin of pTau-associated neurodegeneration in sporadic Alzheimer's disease.
    Title: ApoER2-Dab1 disruption as the origin of pTau-associated neurodegeneration in sporadic Alzheimer's disease.
  4. LRP8-mediated selenocysteine uptake is a targetable vulnerability in MYCN-amplified neuroblastoma.
    Title: LRP8-mediated selenocysteine uptake is a targetable vulnerability in MYCN-amplified neuroblastoma.
  5. LRP8, modulated by miR-1262, promotes tumour progression and forecasts the prognosis of patients in breast cancer.
    Title: LRP8, modulated by miR-1262, promotes tumour progression and forecasts the prognosis of patients in breast cancer.
  6. Human APOER2 Isoforms Have Differential Cleavage Events and Synaptic Properties.
    Title: Human APOER2 Isoforms Have Differential Cleavage Events and Synaptic Properties.
  7. miR-30b-5p inhibits cancer progression and enhances cisplatin sensitivity in lung cancer through targeting LRP8.
    Title: miR-30b-5p inhibits cancer progression and enhances cisplatin sensitivity in lung cancer through targeting LRP8.
  8. LRP8 (rs5177) and CEP85L (rs11756438) are contributed to schizophrenia susceptibility in Iranian population.
    Title: LRP8 (rs5177) and CEP85L (rs11756438) are contributed to schizophrenia susceptibility in Iranian population.
  9. LRP8 activates STAT3 to induce PD-L1 expression in osteosarcoma.
    Title: LRP8 activates STAT3 to induce PD-L1 expression in osteosarcoma.
  10. Further evidence for the association between LRP8 and schizophrenia.
    Title: Further evidence for the association between LRP8 and schizophrenia.
Submit: New GeneRIF Correction See all GeneRIFs (63)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Myocardial infarction, susceptibility to
MedGen: C1832662 OMIM: 608446 GeneReviews: Not available
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EBI GWAS Catalog

Description
Gene-environment interactions and obesity traits among postmenopausal African-American and Hispanic women in the Women's Health Initiative SHARe Study.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables amyloid-beta binding IEA
Inferred from Electronic Annotation
more info
  
enables apolipoprotein binding IC
Inferred by Curator
more info
 PubMed 
enables calcium ion binding IEA
Inferred from Electronic Annotation
more info
  
enables calcium-dependent protein binding IEA
Inferred from Electronic Annotation
more info
  
enables cargo receptor activity NAS
Non-traceable Author Statement
more info
 PubMed 
enables high-density lipoprotein particle binding IEA
Inferred from Electronic Annotation
more info
  
enables kinesin binding IEA
Inferred from Electronic Annotation
more info
  
enables low-density lipoprotein particle receptor activity TAS
Traceable Author Statement
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables reelin receptor activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables transmembrane signaling receptor activity TAS
Traceable Author Statement
more info
 PubMed 
enables very-low-density lipoprotein particle receptor activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in ammon gyrus development ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in cellular response to cholesterol IEA
Inferred from Electronic Annotation
more info
  
involved_in cellular response to growth factor stimulus IEA
Inferred from Electronic Annotation
more info
  
involved_in chemical synaptic transmission IEA
Inferred from Electronic Annotation
more info
  
involved_in cytokine-mediated signaling pathway NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in dendrite morphogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in endocytosis IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in layer formation in cerebral cortex IEA
Inferred from Electronic Annotation
more info
  
involved_in lipid metabolic process NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in modulation of chemical synaptic transmission ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of CREB transcription factor activity ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of dendrite development ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of dendritic spine morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of peptidyl-tyrosine phosphorylation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of protein tyrosine kinase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in proteolysis NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in reelin-mediated signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of innate immune response ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in response to xenobiotic stimulus IEA
Inferred from Electronic Annotation
more info
  
involved_in retinoid metabolic process TAS
Traceable Author Statement
more info
  
involved_in signal transduction TAS
Traceable Author Statement
more info
  
involved_in ventral spinal cord development IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in axon IEA
Inferred from Electronic Annotation
more info
  
is_active_in caveola IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in caveola IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cell surface IEA
Inferred from Electronic Annotation
more info
  
located_in dendrite IEA
Inferred from Electronic Annotation
more info
  
located_in extracellular space IEA
Inferred from Electronic Annotation
more info
  
located_in membrane HDA PubMed 
located_in membrane IC
Inferred by Curator
more info
 PubMed 
part_of microtubule associated complex IEA
Inferred from Electronic Annotation
more info
  
located_in neuronal cell body IEA
Inferred from Electronic Annotation
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
  
part_of receptor complex IDA
Inferred from Direct Assay
more info
 PubMed 
located_in synapse IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
low-density lipoprotein receptor-related protein 8
Names
ApoE receptor 2
low density lipoprotein receptor-related protein 8, apolipoprotein e receptor

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_011517.2 RefSeqGene

    Range
    5080..90786
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001018054.3 → NP_001018064.1  low-density lipoprotein receptor-related protein 8 isoform 4 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an exon in the 3' coding region but maintains the reading frame, compared to variant 1. The encoded isoform (4) is shorter than isoform 1.
    Source sequence(s)
    AL355483, AL606760, BC051836, DB452432
    Consensus CDS
    CCDS30720.1
    UniProtKB/TrEMBL
    A0A590UJF9
    Related
    ENSP00000360509.2, ENST00000371454.6
    Conserved Domains (7) summary
    smart00192
    Location:85 → 117
    LDLa; Low-density lipoprotein receptor domain class A
    smart00135
    Location:489 → 531
    LY; Low-density lipoprotein-receptor YWTD domain
    smart00179
    Location:376 → 406
    EGF_CA; Calcium-binding EGF-like domain
    cd00112
    Location:47 → 81
    LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
    pfam00057
    Location:262 → 294
    Ldl_recept_a; Low-density lipoprotein receptor domain class A
    pfam00058
    Location:552 → 592
    Ldl_recept_b; Low-density lipoprotein receptor repeat class B
    pfam14670
    Location:340 → 374
    FXa_inhibition; Coagulation Factor Xa inhibitory site

  2. NM_004631.5 → NP_004622.2  low-density lipoprotein receptor-related protein 8 isoform 1 precursor

    See identical proteins and their annotated locations for NP_004622.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AL355483, AL606760, BC006443, D50678, DR002432
    Consensus CDS
    CCDS578.1
    UniProtKB/Swiss-Prot
    B1AMT6, B1AMT7, B1AMT8, O14968, Q14114, Q86V27, Q99876, Q9BR78
    UniProtKB/TrEMBL
    A0A590UJ57
    Related
    ENSP00000303634.6, ENST00000306052.12
    Conserved Domains (7) summary
    smart00192
    Location:85 → 117
    LDLa; Low-density lipoprotein receptor domain class A
    smart00135
    Location:489 → 531
    LY; Low-density lipoprotein-receptor YWTD domain
    smart00179
    Location:376 → 406
    EGF_CA; Calcium-binding EGF-like domain
    cd00112
    Location:47 → 81
    LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
    pfam00057
    Location:262 → 294
    Ldl_recept_a; Low-density lipoprotein receptor domain class A
    pfam00058
    Location:552 → 592
    Ldl_recept_b; Low-density lipoprotein receptor repeat class B
    pfam14670
    Location:340 → 374
    FXa_inhibition; Coagulation Factor Xa inhibitory site

  3. NM_017522.5 → NP_059992.3  low-density lipoprotein receptor-related protein 8 isoform 3 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks three exons in the coding region but maintains the reading frame, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
    Source sequence(s)
    AL119002, AL355483, AL606760, BC051836, BE543079, DB452432, Z75190
    Consensus CDS
    CCDS579.1
    UniProtKB/TrEMBL
    A0A590UK84
    Related
    ENSP00000346391.3, ENST00000354412.7
    Conserved Domains (7) summary
    smart00192
    Location:85 → 117
    LDLa; Low-density lipoprotein receptor domain class A
    smart00135
    Location:360 → 402
    LY; Low-density lipoprotein-receptor YWTD domain
    smart00179
    Location:247 → 277
    EGF_CA; Calcium-binding EGF-like domain
    cd00112
    Location:47 → 81
    LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
    pfam00057
    Location:169 → 204
    Ldl_recept_a; Low-density lipoprotein receptor domain class A
    pfam00058
    Location:423 → 463
    Ldl_recept_b; Low-density lipoprotein receptor repeat class B
    pfam14670
    Location:211 → 245
    FXa_inhibition; Coagulation Factor Xa inhibitory site

  4. NM_033300.4 → NP_150643.2  low-density lipoprotein receptor-related protein 8 isoform 2 precursor

    See identical proteins and their annotated locations for NP_150643.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks two consecutive coding exons but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AL119002, AL355483, AL606760, BC006443, CD300289, DB455425
    Consensus CDS
    CCDS580.1
    UniProtKB/TrEMBL
    A0A590UJ98
    Related
    ENSP00000334522.2, ENST00000347547.7
    Conserved Domains (6) summary
    smart00192
    Location:85 → 117
    LDLa; Low-density lipoprotein receptor domain class A
    smart00135
    Location:319 → 361
    LY; Low-density lipoprotein-receptor YWTD domain
    smart00179
    Location:206 → 236
    EGF_CA; Calcium-binding EGF-like domain
    cd00112
    Location:47 → 81
    LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
    pfam00058
    Location:382 → 422
    Ldl_recept_b; Low-density lipoprotein receptor repeat class B
    pfam14670
    Location:170 → 204
    FXa_inhibition; Coagulation Factor Xa inhibitory site

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    53242364..53328070 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    53123827..53210280 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q14114.4 GenPept UniProtKB/Swiss-Prot:Q14114

Gene LinkOut

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