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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
  • Gene Overview
    MyGene.info: LRP2
Location & Maps
more
  • Sequence Map
    Chr2:69424340-69586065 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      161726 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 2, 40.74 cM
  • Mapping Data
    11 experiments
Homology
more
  • Human Ortholog
    LRP2, LDL receptor related protein 2
  • Vertebrate Orthologs
    10
  • Human Ortholog
    LRP2, LDL receptor related protein 2
    Orthology source: HGNC, HomoloGene
  • Synonyms
    DBS, GP330
  • Links
    NCBI Gene ID: 4036
    neXtProt AC: NX_P98164

  • Chr Location
    2q31.1; chr2:169127109-169362613 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Lrp2 mouse models; 1 with human LRP2 associations

Human Disease Mouse Models
       Donnai-Barrow Syndrome   OMIM: 222448 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    93 phenotypes from 7 alleles in 10 genetic backgrounds
    4 phenotypes from multigenic genotypes
    29 images
    48 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.
  • All Mutations and Alleles
    31
  • Chemically induced (ENU)
    4
  • Chemically induced (other)
    1
  • Gene trapped
    21
  • Targeted
    5
  • Genomic Mutations
    1 involving Lrp2
  • Incidental Mutations
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
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  • All GO Annotations
  • GO References
Molecular Function

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

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000012988 VEGA Gene Model | MGI Sequence Detail 161726 C57BL/6J ±  kb
transcript OTTMUST00000031293 VEGA | MGI Sequence Detail 15460 Not Applicable  
polypeptide OTTMUSP00000014001 VEGA | MGI Sequence Detail 4660 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    1616 from dbSNP Build 142
  • PCR
  • RFLP
Protein
Information
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  • UniProt
    3 Sequences
  • Protein Ontology
    PR:000009921 low-density lipoprotein receptor-related protein 2
  • InterPro Domains
    IPR026823 Complement Clr-like EGF domain
    IPR018097 EGF-like calcium-binding, conserved site
    IPR001881 EGF-like calcium-binding domain
    IPR013032 EGF-like, conserved site
    IPR000742 EGF-like domain
    IPR000152 EGF-type aspartate/asparagine hydroxylation site
    IPR009030 Growth factor receptor cysteine-rich domain
    IPR000033 LDLR class B repeat
    IPR023415 Low-density lipoprotein (LDL) receptor class A, conserved site
    IPR002172 Low-density lipoprotein (LDL) receptor class A repeat
    IPR011042 Six-bladed beta-propeller, TolB-like
Molecular
Reagents
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  • All nucleic 132
    cDNA 129
    Primer pair 3

    Microarray probesets 5
Other
Accession IDs
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MGD-MRK-10218, MGI:2138891, MGI:2139361, MGI:2444234, MGI:5489921
References
more
  • Summaries
    All 128
    Developmental Gene Expression 36
    Diseases 1
    Gene Ontology 19
    Phenotypes 48
  • 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:231949 San Agustin JT, et al., Genetic link between renal birth defects and congenital heart disease. Nat Commun. 2016;7:11103

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/22/2016
MGI 6.04
The Jackson Laboratory