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FLASH GENE

Symbol

LRP8

contributors: mct/ - updated : 07-03-2017

HGNC name	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor
HGNC id	6700

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	1p32.3      Physical location : 53.711.211 - 53.793.821
Synonym name	apolipoprotein E receptor 2
	low-density lipoprotein receptor-related protein 8
Synonym symbol(s)	APOER2, HSZ75190, MCI1

DNA

TYPE	functioning gene
STRUCTURE	82.61 kb     19 Exon(s)

Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_004631 19 - 4528 NP_004622 102 963 - 1997 9079678 NM_033300 17 - 4097 NP_150643 83.7 793 - 1997 9079678 NM_017522 16 - 3739 NP_059992 74.4 700 - 1997 9079678 NM_001018054 18 - 4351 NP_001018064 95.7 904 - 2006 16481437

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive intestine large intestine colon   highly Endocrine thyroid       highly Nervous brain         Homo sapiens Fetal Reproductive male system testis       Visual eye retina     lowly Homo sapiens Adult

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone     highly Muscular smooth       Muscular striatum cardiac

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

perinatal, neonatal

Text	highest expression during postnatal inner retinal synaptic development and was considerably lower in the mature retina (

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a ligand-binding domain consisting of cysteine-rich repeats
	an EGF-like homology domain
	an 0-linked sugar domain
	eight LDL receptor class a domains
	6 LDL-receptor class b domains
	three EGF-like domains
	a transmembrane segment
	a cytoplasmic short tail with a NPY internalization domain

HOMOLOGY

intraspecies	homolog to low density lipoprotein receptor 8 (LDLR)
	homolog to LDLR, VLDLR, highly

Homologene

FAMILY

LDLR family

CATEGORY

receptor

SUBCELLULAR LOCALIZATION	extracellular
	plasma membrane
	intracellular

basic FUNCTION	inducing tyrosine phosphorylation of DAB1 and modulation of tau phosphorylation
	possible signaling role for LRP8 in sperm development and function that is independent of selenium uptake (
	LRP8, and LRP2 mediate tissue-specific SEPP1 uptake
	plays important roles in structure and function of CNS synapses and dendritic spines, and these roles are modulated by cytoplasmic adaptor proteins APBA1 and DLG4
	is essential to protect the root surface from resorption
	pivotal role in the establishment and maintenance of normal retinal synaptic connectivity
	positive regulator of Wnt/CTNNB1 signaling
	novel positive factor of canonical Wnt signaling pathway and involved in Wnt-induced osteoblast differentiation

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	reelin
	proteolytic cleavage of RELN and alternative splicing of LRP8 may be involved in the fine regulation of RLN signaling
	platelet receptor for FXI
	RELN and apolipoprotein E (apoE), ligands of LRP8, are involved in retinal development and degeneration, respectively
	is being the main receptor responsible for RELN mediated detachment of neuroblasts and correct migration of early generated interneurons within the olfactory bulb (OB), a prerequisite for correct OB lamination
	HIC1 is a direct transcriptional repressor of LRP8 and VLDLR
	CLU binds to apolipoprotein E receptor 2 (LRP8) and very low density lipoprotein receptor (VLDLR) and is internalized by cells expressing either one of these receptors
	RELN governs cell migration through activation of multiple intracellular signaling events by means of the receptors LRP8 and VLDLR, and the intracellular adaptor protein Disabled-1 (DAB1)
	SFRS11 directly binds to the 3' UTR of LRP8 mRNA, as well as to the third exon of APOE mRNA, resulting in stabilization of these mRNAs, eventually deactivating JNK signaling

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

to fetal growth restriction to premature coronary artery disease, and/or myocardial infarction

Variant & Polymorphism SNP , other	associated with fetal growth restriction
	variants contributing to the development of premature and familial coronary artery disease, and/or myocardial infarction

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS