GediPNet logo

LRP8 (LDL receptor related protein 8)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7804
Gene nameGene Name - the full gene name approved by the HGNC.
LDL receptor related protein 8
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
LRP8
SynonymsGene synonyms aliases
APOER2, HSZ75190, LRP-8, MCI1
ChromosomeChromosome number
1
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p32.3
SummarySummary of gene provided in NCBI Entrez 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 d
SNPsSNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs5174 C>T Risk-factor Genic downstream transcript variant, coding sequence variant, missense variant
miRNAmiRNA information provided by mirtarbase database.
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 factor Regulation Reference
HIC1 Repression 24076391
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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 TAS 8626535
GO:0005041 Function Low-density lipoprotein particle receptor activity TAS 20005821
GO:0005509 Function Calcium ion binding IEA
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID 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
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
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
Reactome
    Platelet sensitization by LDL
Retinoid metabolism and transport
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Myocardial infarction Myocardial Infarction rs12316150, rs41303970, rs909253, rs7291467, rs2234693
Schizophrenia Schizophrenia rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 17936586, 22419519
Unknown
Disease name Disease term dbSNP ID References
Mental depression Unipolar Depression, Major Depressive Disorder rs587778876, rs587778877 20493228
Psychosis Psychotic Disorders 23164818

| © 2021, Biomedical Informatics Centre, NIRRH |
ICMR-National Institute for Research in Reproductive Health, Jehangir Merwanji Street, Parel, Mumbai-400012
Tel: +91-22-24192104, Fax No: +91-22-24139412