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Lrp8 Gene Detail
Summary
  • Symbol
    Lrp8
  • Name
    low density lipoprotein receptor-related protein 8, apolipoprotein e receptor
  • Synonyms
    4932703M08Rik, apoER2, Lr8b
  • Feature Type
    protein coding gene
  • IDs
    MGI:1340044
    NCBI Gene: 16975
  • Alliance
    gene page
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:107659337-107734037 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 4, 50.18 cM, cytoband C7
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1890 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1340044
 protein coding gene Chr4:107659066-107734037 (+)
129S1/SvImJ MGP_129S1SvImJ_G0028542
 protein coding gene Chr4:108501855-108579887 (+)
A/J MGP_AJ_G0028505
 protein coding gene Chr4:104605733-104680227 (+)
AKR/J MGP_AKRJ_G0028452
 protein coding gene Chr4:107176828-107254419 (+)
BALB/cJ MGP_BALBcJ_G0028524
 protein coding gene Chr4:104803994-104880644 (+)
C3H/HeJ MGP_C3HHeJ_G0028238
 protein coding gene Chr4:107920199-107996934 (+)
C57BL/6NJ MGP_C57BL6NJ_G0028964
 protein coding gene Chr4:112394766-112469660 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0026255
 protein coding gene Chr4:99912652-99991000 (+)
CAST/EiJ MGP_CASTEiJ_G0027674
 protein coding gene Chr4:105754107-105828211 (+)
CBA/J MGP_CBAJ_G0028207
 protein coding gene Chr4:116033105-116112155 (+)
DBA/2J MGP_DBA2J_G0028355
 protein coding gene Chr4:104228744-104303075 (+)
FVB/NJ MGP_FVBNJ_G0028323
 protein coding gene Chr4:103095736-103172944 (+)
LP/J MGP_LPJ_G0028456
 protein coding gene Chr4:108701249-108777584 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0028349
 protein coding gene Chr4:121307938-121384402 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0029000
 protein coding gene Chr4:107421179-107498585 (+)
PWK/PhJ MGP_PWKPhJ_G0027400
 protein coding gene Chr4:102477233-102552988 (+)
SPRET/EiJ MGP_SPRETEiJ_G0027224
 protein coding gene Chr4:104791266-104872185 (+)
WSB/EiJ MGP_WSBEiJ_G0027755
 protein coding gene Chr4:107602723-107678998 (+)



Homology
more
  • Human Ortholog
    LRP8, LDL receptor related protein 8
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    LRP8, LDL receptor related protein 8
  • Synonyms
    APOER2, HSZ75190, LRP-8, MCI1
  • Links
    NCBI Gene ID: 7804
    neXtProt AC: NX_Q14114
    UniProt: Q14114

  • Chr Location
    1p32.3; chr1:53242364-53328469 (-)  GRCh38
Human Diseases
more
  • Diseases
    5 with human LRP8 associations

Human Disease Mouse Models
      
IDs
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    29 phenotypes from 4 alleles in 4 genetic backgrounds
    30 phenotypes from multigenic genotypes
    1 images
    75 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Homozygotes for a targeted null mutation exhibit impaired granule cell migration, radial glial scaffold formation, contextual fear conditioning, and long-term potentiation. Mutant males have abnormal sperm and are sterile.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    68
  • GO References
    23
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    786
  • Tissues
    56
  • cDNA Data
    47
  • Literature Summary
    49
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 16975 NCBI Gene Model | MGI Sequence Detail 74701 C57BL/6J ±  kb
    transcript NM_053073 RefSeq | MGI Sequence Detail 7674 C57BL/6  
    polypeptide Q924X6 UniProt | EBI | MGI Sequence Detail 996 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      13 Sequences
    • Protein Ontology
      PR:000009928 low-density lipoprotein receptor-related protein 8
      (term hierarchy)
    • InterPro Domains
      IPR050778 Cueball/EGF/LRP/Nidogen
      IPR018097 EGF-like calcium-binding, conserved site
      IPR001881 EGF-like calcium-binding domain
      IPR000742 EGF-like domain
      IPR000152 EGF-type aspartate/asparagine hydroxylation site
      IPR000033 LDLR class B repeat
      IPR036055 LDL receptor-like superfamily
      IPR023415 Low-density lipoprotein (LDL) receptor class A, conserved site
      IPR002172 Low-density lipoprotein (LDL) receptor class A repeat
      IPR050685 Low-density lipoprotein receptor
      IPR051221 Low-density lipoprotein receptor-related
      IPR049883 NOTCH1 EGF-like calcium-binding domain
      IPR011042 Six-bladed beta-propeller, TolB-like
    • GlyGen
      Q924X6 4 sites, 5 N-linked glycans (3 sites)
    Molecular
    Reagents
    less
    • All nucleic 52
      cDNA 49
      Other 3

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-35844, MGI:107377, MGI:2140379, MGI:2445098, MGI:3581522
    References
    more
    • Summaries
      All 181
      Developmental Gene Expression 49
      Gene Ontology 23
      Phenotypes 75
    • Earliest
      J:10174 Rollins BJ, et al., The human homolog of the JE gene encodes a monocyte secretory protein. Mol Cell Biol. 1989 Nov;9(11):4687-95
    • Latest
      J:345948 Caracci MO, et al., The Reelin receptor ApoER2 is a cargo for the adaptor protein complex AP-4: Implications for Hereditary Spastic Paraplegia. Prog Neurobiol. 2024 Jan 26;234:102575
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/19/2024
    MGI 6.24     		The Jackson Laboratory