Gene Gene information from NCBI Gene database.
Entrez ID 7804
Gene name LDL receptor related protein 8
Gene symbol LRP8
Synonyms (NCBI Gene)
APOER2HSZ75190LRP-8MCI1
Chromosome 1
Chromosome location 1p32.3
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 d
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs5174 C>T Risk-factor Genic downstream transcript variant, coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
607
miRTarBase ID miRNA Experiments Reference
MIRT020152 hsa-miR-130b-3p Sequencing 20371350
MIRT024366 hsa-miR-215-5p Microarray 19074876
MIRT026507 hsa-miR-192-5p Microarray 19074876
MIRT031127 hsa-miR-19b-3p Sequencing 20371350
MIRT046111 hsa-miR-30b-5p CLASH 23622248
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
HIC1 Repression 24076391
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
77
GO ID Ontology Definition Evidence Reference
GO:0001523 Process Retinoid metabolic process TAS
GO:0001540 Function Amyloid-beta binding IEA
GO:0004888 Function Transmembrane signaling receptor activity IEA
GO:0004888 Function Transmembrane signaling receptor activity TAS 8626535
GO:0005041 Function Low-density lipoprotein particle receptor activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602600 6700 ENSG00000157193
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q14114
Protein name Low-density lipoprotein receptor-related protein 8 (LRP-8) (Apolipoprotein E receptor 2)
Protein function Cell surface receptor for Reelin (RELN) and apolipoprotein E (apoE)-containing ligands (PubMed:12899622, PubMed:12950167, PubMed:20223215, PubMed:30873003). LRP8 participates in transmitting the extracellular Reelin signal to intracellular signa
PDB 3A7Q , 5B4X , 5B4Y , 7UCX
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00057 Ldl_recept_a 45 81 Low-density lipoprotein receptor domain class A Repeat
PF00057 Ldl_recept_a 84 122 Low-density lipoprotein receptor domain class A Repeat
PF00057 Ldl_recept_a 125 163 Low-density lipoprotein receptor domain class A Repeat
PF00057 Ldl_recept_a 165 201 Low-density lipoprotein receptor domain class A Repeat
PF00057 Ldl_recept_a 204 245 Low-density lipoprotein receptor domain class A Repeat
PF00057 Ldl_recept_a 257 294 Low-density lipoprotein receptor domain class A Repeat
PF00057 Ldl_recept_a 297 333 Low-density lipoprotein receptor domain class A Repeat
PF14670 FXa_inhibition 340 374 Domain
PF00058 Ldl_recept_b 462 506 Low-density lipoprotein receptor repeat class B Repeat
PF00058 Ldl_recept_b 509 549 Low-density lipoprotein receptor repeat class B Repeat
PF00058 Ldl_recept_b 552 593 Low-density lipoprotein receptor repeat class B Repeat
PF00058 Ldl_recept_b 596 638 Low-density lipoprotein receptor repeat class B Repeat
PF00058 Ldl_recept_b 639 679 Low-density lipoprotein receptor repeat class B Repeat
Tissue specificity TISSUE SPECIFICITY: Expressed mainly in brain and placenta. Also expressed in platelets and megakaryocytic cells. Not expressed in the liver. {ECO:0000269|PubMed:10218790, ECO:0000269|PubMed:10508213}.
Sequence
MGLPEPGPLRLLALLLLLLLLLLLQLQHLAAAAADPLLGGQGPAKDCEKDQFQCRNERCI
PSVWRCDEDDDCLDHSDEDDC
PKKTCADSDFTCDNGHCIHERWKCDGEEECPDGSDESEA
TC
TKQVCPAEKLSCGPTSHKCVPASWRCDGEKDCEGGADEAGCATLCAPHEFQCGNRSCL
AAVFVCDGDDDCGDGSDERGC
ADPACGPREFRCGGDGGGACIPERWVCDRQFDCEDRSDE
AAELC
GRPGPGATSAPAACATASQFACRSGECVHLGWRCDGDRDCKDKSDEADCPLGTCR
GDEFQCGDGTCVLAIKHCNQEQDCPDGSDEAGC
LQGLNECLHNNGGCSHICTDLKIGFEC
TCPAGFQLLDQKTC
GDIDECKDPDACSQICVNYKGYFKCECYPGYEMDLLTKNCKAAAGK
SPSLIFTNRHEVRRIDLVKRNYSRLIPMLKNVVALDVEVATNRIYWCDLSYRKIYSAYMD
KASDPKEQEVLIDEQLHSPEGLAVDW
VHKHIYWTDSGNKTISVATVDGGRRRTLFSRNLS
EPRAIAVDP
LRGFMYWSDWGDQAKIEKSGLNGVDRQTLVSDNIEWPNGITLDLLSQRLYW
VDSKLHQLSSIDFSGGNRKTLISSTDFLSHPFGIAVFE
DKVFWTDLENEAIFSANRLNGL
EISILAENLNNPHDIVIFH
ELKQPRAPDACELSVQPNGGCEYLCLPAPQISSHSPKYTCA
CPDTMWLGPDMKRCYRAPQSTSTTTLASTMTRTVPATTRAPGTTVHRSTYQNHSTETPSL
TAAVPSSVSVPRAPSISPSTLSPATSNHSQHYANEDSKMGSTVTAAVIGIIVPIVVIALL
CMSGYLIWRNWKRKNTKSMNFDNPVYRKTTEEEDEDELHIGRTAQIGHVYPAAISSFDRP
LWAEPCLGETREPEDPAPALKELFVLPGEPRSQLHQLPKNPLSELPVVKSKRVALSLEDD
GLP
Sequence length 963
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Platelet sensitization by LDL
Retinoid metabolism and transport
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
18
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMERS DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC ISCHEMIC HEART DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer Disease Alzheimer disease Pubtator 35466940, 35886870, 38093390 Associate
★☆☆☆☆
Found in Text Mining only
Amyloidosis Amyloidosis BEFREE 29442527
★☆☆☆☆
Found in Text Mining only
Antiphospholipid Syndrome Antiphospholipid Syndrome BEFREE 21119114, 29500169
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 24840660, 29727700, 31412739
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 24840660, 29727700, 31412739
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism BEFREE 23333377
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism Pubtator 36039581 Associate
★☆☆☆☆
Found in Text Mining only
Behcet Syndrome Behcet disease Pubtator 39191728 Inhibit
★☆☆☆☆
Found in Text Mining only
Bipolar Disorder Bipolar disorder Pubtator 39191728 Associate
★☆☆☆☆
Found in Text Mining only
Blood Platelet Disorders Platelet disorder Pubtator 10508213 Associate
★☆☆☆☆
Found in Text Mining only