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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]
LRP8 (LDL Receptor Related Protein 8) is a Protein Coding gene. Diseases associated with LRP8 include Myocardial Infarction and Osteoporosis-Pseudoglioma Syndrome. Among its related pathways are Signaling by GPCR and Response to elevated platelet cytosolic Ca2+. Gene Ontology (GO) annotations related to this gene include calcium ion binding and kinesin binding. An important paralog of this gene is VLDLR.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001540 | amyloid-beta binding | IEA | -- |
GO:0004888 | transmembrane signaling receptor activity | TAS | 8626535 |
GO:0005041 | low-density lipoprotein particle receptor activity | TAS | 20005821 |
GO:0005509 | calcium ion binding | IEA | -- |
GO:0005515 | protein binding | IEA,IPI | 12950167 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | IEA | -- |
GO:0005615 | extracellular space | IEA | -- |
GO:0005875 | microtubule associated complex | IEA | -- |
GO:0005886 | plasma membrane | NAS,TAS | -- |
GO:0005901 | caveola | IDA | 11369809 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Metabolism of fat-soluble vitamins | ||
2 | Platelet homeostasis | ||
3 | Guidance Cues and Growth Cone Motility |
Guidance Cues and Growth Cone Motility
-
|
|
4 | Reelin Pathway (Cajal-Retzius cells) |
Reelin Pathway (Cajal-Retzius cells)
-
|
|
5 | Response to elevated platelet cytosolic Ca2+ |
.44
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001523 | retinoid metabolic process | TAS | -- |
GO:0006508 | proteolysis | NAS | 11152697 |
GO:0006629 | lipid metabolic process | TAS,NAS | 11152697 |
GO:0006897 | endocytosis | IEA,IDA | 8626535 |
GO:0007165 | signal transduction | TAS | -- |
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: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | LRP8 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | LRP8 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | LRP8 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Lrp8 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Lrp8 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | LRP8 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | LRP8 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | LRP8 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | LRP8 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | lrp8 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | apoer2 30 |
|
||
lrp8 31 |
|
OneToOne | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG4861 32 |
|
|
|
LpR2 31 |
|
ManyToMany | |||
LpR1 31 |
|
ManyToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | T13C2.6 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs148468730 | Benign: not provided | 53,280,600(-) |
G/C NM_004631.5(LRP8):c.483C>G (p.Ala161=) |
SYNONYMOUS | |
rs185254863 | Benign: not provided | 53,271,243(-) |
G/A NM_004631.5(LRP8):c.1110C>T (p.Asp370=) |
SYNONYMOUS | |
rs186786897 | Benign: not provided | 53,262,213(-) |
G/A NM_004631.5(LRP8):c.1775-6C>T |
INTRON | |
rs5172 | Benign: not provided. -. - | 53,258,321(-) |
C/Tp.Gln607Argp.Arg736Gln NM_004631.5(LRP8):c.2207G>A (p.Arg736Gln) |
MISSENSE | |
rs5173 | Benign: not provided | 53,250,819(-) |
T/C NM_004631.5(LRP8):c.2547A>G (p.Arg849=) |
SYNONYMOUS |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
myocardial infarction |
|
|
osteoporosis-pseudoglioma syndrome |
|
|
lissencephaly |
|
|
major depressive disorder |
|
|
cerebellar hypoplasia |
|
|