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.
|
|
Transcription factors
|
Transcription factor |
Regulation |
Reference |
HIC1 |
Repression |
24076391 |
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
|
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 |
|
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.
|
|
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 |
|