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Lrp2 Gene Detail
Summary
  • Symbol
    Lrp2
  • Name
    low density lipoprotein receptor-related protein 2
  • Synonyms
    b2b1625.2Clo, D230004K18Rik, Gp330, Megalin
  • Feature Type
    protein coding gene
  • IDs
    MGI:95794
    NCBI Gene: 14725
  • Alliance
    gene page
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:69254679-69416373 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 40.74 cM
  • Mapping Data
    11 experiments
Strain
Comparison
more
  • SNPs within 2kb
    4683 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    1
  • RFLP
    2
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_95794
 protein coding gene Chr2:69254679-69416409 (-)
129S1/SvImJ MGP_129S1SvImJ_G0025799
 protein coding gene Chr2:69391644-69566086 (-)
A/J MGP_AJ_G0025776
 protein coding gene Chr2:66710245-66876553 (-)
AKR/J MGP_AKRJ_G0025745
 protein coding gene Chr2:68504863-68668271 (-)
BALB/cJ MGP_BALBcJ_G0025771
 protein coding gene Chr2:66870275-67032962 (-)
C3H/HeJ MGP_C3HHeJ_G0025531
 protein coding gene Chr2:68739508-68911891 (-)
C57BL/6NJ MGP_C57BL6NJ_G0026218
 protein coding gene Chr2:71495682-71672670 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0023621
 protein coding gene Chr2:63923922-64088329 (-)
CAST/EiJ MGP_CASTEiJ_G0024995
 protein coding gene Chr2:68848943-69029206 (-)
CBA/J MGP_CBAJ_G0025511
 protein coding gene Chr2:74102704-74286725 (-)
DBA/2J MGP_DBA2J_G0025642
 protein coding gene Chr2:66348401-66513278 (-)
FVB/NJ MGP_FVBNJ_G0025605
 protein coding gene Chr2:65721954-65892200 (-)
LP/J MGP_LPJ_G0025731
 protein coding gene Chr2:69236591-69409399 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0025634
 protein coding gene Chr2:76149584-76357684 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0026275
 protein coding gene Chr2:68596178-68770307 (-)
PWK/PhJ MGP_PWKPhJ_G0024736
 protein coding gene Chr2:66173965-66348378 (-)
SPRET/EiJ MGP_SPRETEiJ_G0024543
 protein coding gene Chr2:68819244-68987288 (-)
WSB/EiJ MGP_WSBEiJ_G0025063
 protein coding gene Chr2:69026130-69194270 (-)



Homology
more
  • Human Ortholog
    LRP2, LDL receptor related protein 2
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    LRP2, LDL receptor related protein 2
  • Synonyms
    DBS, GP330, LRP-2
  • Links
    NCBI Gene ID: 4036
    neXtProt AC: NX_P98164
    UniProt: P98164

  • Chr Location
    2q31.1; chr2:169127109-169362534 (-)  GRCh38
Human Diseases
more
  • Diseases
    3 with Lrp2 mouse models; 2 with human LRP2 associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
 View 1 model
IDs
 View 1 model
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    114 phenotypes from 6 alleles in 13 genetic backgrounds
    7 phenotypes from multigenic genotypes
    29 images
    82 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 lung and kidney epithelial defects, impaired B12 uptake, reduced proliferation of the neuroepithelium resulting in lack of olfactory bulbs, forebrain fusions, ventricular defects, and perinatal lethality.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    119
  • GO References
    40
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
    1116
  • Tissues
    203
  • cDNA Data
    129
  • Literature Summary
    67
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 14725 NCBI Gene Model | MGI Sequence Detail 161695 C57BL/6J ±  kb
    transcript NM_001081088 RefSeq | MGI Sequence Detail 15429 ZRU/MplStud  
    polypeptide A2ARV4 UniProt | EBI | MGI Sequence Detail 4660 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      3 Sequences
    • Protein Ontology
      PR:000009921 low-density lipoprotein receptor-related protein 2
      (term hierarchy)
    • PDB
      8EM4, 8EM7
    • InterPro Domains
      IPR026823 Complement Clr-like EGF domain
      IPR018097 EGF-like calcium-binding, conserved site
      IPR001881 EGF-like calcium-binding domain
      IPR000742 EGF-like domain
      IPR000152 EGF-type aspartate/asparagine hydroxylation site
      IPR009030 Growth factor receptor cysteine-rich domain superfamily
      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
      IPR051221 Low-density lipoprotein receptor-related
      IPR049883 NOTCH1 EGF-like calcium-binding domain
      IPR011042 Six-bladed beta-propeller, TolB-like
    • GlyGen
      A2ARV4 43 sites, 5 N-linked glycans (10 sites)
    Molecular
    Reagents
    less
    • All nucleic 139
      cDNA 131
      Primer pair 6
      Other 2

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-10218, MGI:2138891, MGI:2139361, MGI:2444234, MGI:5489921
    References
    more
    • Summaries
      All 215
      Developmental Gene Expression 67
      Diseases 3
      Gene Ontology 40
      Phenotypes 82
    • Earliest
      J:14575 Xia YR, et al., Mapping of the glycoprotein 330 (Gp330) gene to mouse chromosome 2. Genomics. 1993 Sep;17(3):780-1
    • Latest
      J:358593 Beenken A, et al., Spns1 is an iron transporter essential for megalin-dependent endocytosis. Am J Physiol Renal Physiol. 2024 Nov 1;327(5):F775-F787
    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
    12/10/2024
    MGI 6.24     		The Jackson Laboratory