LRP8 (LDL receptor related protein 8)

2021-06-01  

Identity

HGNC
LOCATION
1p32.3
LOCUSID
ALIAS
APOER2,HSZ75190,LRP-8,MCI1

Other Information

Locus ID:

NCBI: 7804
MIM: 602600
HGNC: 6700
Ensembl: ENSG00000157193

Variants:

dbSNP: 7804
ClinVar: 7804
TCGA: ENSG00000157193
COSMIC: LRP8

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000157193ENST00000306052Q14114
ENSG00000157193ENST00000347547Q14114
ENSG00000157193ENST00000354412Q14114
ENSG00000157193ENST00000371454Q14114
ENSG00000157193ENST00000460214A0A590UJ39
ENSG00000157193ENST00000465675E9PP15
ENSG00000157193ENST00000475501H0YEV6
ENSG00000157193ENST00000480045E9PKG2
ENSG00000157193ENST00000481431H0YEA5
ENSG00000157193ENST00000529670H0YCA4
ENSG00000157193ENST00000653169A0A590UKB5
ENSG00000157193ENST00000653217A0A590UKB1
ENSG00000157193ENST00000653810A0A590UJH5
ENSG00000157193ENST00000654947A0A590UJJ9
ENSG00000157193ENST00000656486A0A590UK53
ENSG00000157193ENST00000657047A0A590UJV3
ENSG00000157193ENST00000657895A0A590UK97
ENSG00000157193ENST00000658277A0A590UJT0
ENSG00000157193ENST00000659993A0A590UK45
ENSG00000157193ENST00000661457A0A590UJQ4
ENSG00000157193ENST00000662198A0A590UJ98
ENSG00000157193ENST00000662604A0A590UJJ8
ENSG00000157193ENST00000662802A0A590UJ30
ENSG00000157193ENST00000667377A0A590UJF9
ENSG00000157193ENST00000668071A0A590UK84
ENSG00000157193ENST00000668448A0A590UJ57

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45

Pathways

PathwaySourceExternal ID
HemostasisREACTOMER-HSA-109582
Platelet homeostasisREACTOMER-HSA-418346
Platelet sensitization by LDLREACTOMER-HSA-432142
Signal TransductionREACTOMER-HSA-162582
Visual phototransductionREACTOMER-HSA-2187338
Retinoid metabolism and transportREACTOMER-HSA-975634
MetabolismREACTOMER-HSA-1430728
Metabolism of vitamins and cofactorsREACTOMER-HSA-196854
Metabolism of fat-soluble vitaminsREACTOMER-HSA-6806667

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
180396582008The proprotein convertase PCSK9 induces the degradation of low density lipoprotein receptor (LDLR) and its closest family members VLDLR and ApoER2.108
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
169514052006DAB1 and Reelin effects on amyloid precursor protein and ApoE receptor 2 trafficking and processing.58
191162732009Activated protein C ligation of ApoER2 (LRP8) causes Dab1-dependent signaling in U937 cells.56
128719342003Differential glycosylation regulates processing of lipoprotein receptors by gamma-secretase.53
164814372006Functional dissection of Reelin signaling by site-directed disruption of Disabled-1 adaptor binding to apolipoprotein E receptor 2: distinct roles in development and synaptic plasticity.49
163326822006Apolipoprotein E receptor 2 interactions with the N-methyl-D-aspartate receptor.40
159507582005Regulation of ApoE receptor proteolysis by ligand binding.39
178470022007An LRP8 variant is associated with familial and premature coronary artery disease and myocardial infarction.38
178470022007An LRP8 variant is associated with familial and premature coronary artery disease and myocardial infarction.38

Citation

Dessen P

LRP8 (LDL receptor related protein 8)

Atlas Genet Cytogenet Oncol Haematol. 2021-06-01

Online version: http://atlasgeneticsoncology.org/gene/58182/lrp8