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Lrp2
Gene Detail
Symbol

Name
ID
Lrp2
low density lipoprotein receptor-related protein 2
MGI:95794
Synonyms
b2b1625.2Clo, D230004K18Rik, Gp330, Megalin
Feature Type
protein coding gene
Genetic Map
Chromosome 2
40.74 cM
Detailed Genetic Map ± 1 cM


Mapping data(11)
Sequence Map
Chr2:69424340-69586065 bp, - strand
From VEGA annotation of GRCm38

  161726 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:20952  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: LRP2
Protein SuperFamily: LDL receptor-related protein
Gene Tree: Lrp2

Human
homologs
LRP2, low density lipoprotein receptor-related protein 2
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 4036
neXtProt AC: NX_P98164

Human Synonyms: DBS, GP330

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

Disease Associations: (1) Diseases Associated with Human LRP2

Mutations,
alleles, and
phenotypes
All mutations/alleles(30) : Chemically induced (ENU)(4) Gene trapped(21) Targeted(5)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
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.
 
Human Diseases Modeled in Mice Using Lrp2 (1)    Mutations Annotated to Human Diseases (1)    Phenotype Images(29)
Interactions
Lrp2 interacts with 347 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (53 annotations)
Process canonical Wnt signaling pathway, cell proliferation, ...
Component apical part of cell, apical plasma membrane, ...
Function calcium ion binding, hemoglobin binding, ...
External Resources: FuncBase
Expression
Literature Summary: (34 records)
Data Summary: Results (259)    Tissues (130)    Images (30)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 46
RNA in situ 197
RT-PCR 16
cDNA source data(127)
Other mouse links: Allen Institute   GENSAT   GEO   Expression Atlas
Other vertebrate links: GEISHA LRP2 ; Xenbase lrp2 ; ZFIN lrp2a    NEW 
Molecular
reagents
All nucleic(132) cDNA(129) Primer pair(3)
Microarray probesets(5)
Other database
links
VEGA Gene Model OTTMUSG00000012988 (Evidence)
Ensembl Gene Model ENSMUSG00000027070 (Evidence)
Entrez Gene 14725 (Evidence)
UniGene 23847
DFCI TC1608935, TC1655996, TC1677693, TC1703921
DoTS DT.530178, DT.91349072, DT.94166164, DT.97389734
NIA Mouse Gene Index U022710
Consensus CDS Project CCDS38135.1
International Mouse Phenotyping Consortium Status Lrp2
Sequences
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 sequences
All sequences(51) RefSeq(3) UniProt(3)
Polymorphisms
All PCR and RFLP(3) : PCR(1) RFLP(2) SNPs within 2kb(1624 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR026823 Complement Clr-like EGF domain
InterPro IPR001881 EGF-like calcium-binding
InterPro IPR018097 EGF-like calcium-binding, conserved site
InterPro IPR013032 EGF-like, conserved site
InterPro IPR000152 EGF-type aspartate/asparagine hydroxylation site
InterPro IPR000742 Epidermal growth factor-like domain
InterPro IPR009030 Insulin-like growth factor binding protein, N-terminal
InterPro IPR000033 LDLR class B repeat
InterPro IPR023415 Low-density lipoprotein (LDL) receptor class A, conserved site
InterPro IPR002172 Low-density lipoprotein (LDL) receptor class A repeat
InterPro IPR011042 Six-bladed beta-propeller, TolB-like
Protein Ontology PR:000009921 low-density lipoprotein receptor-related protein 2
References
(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:222159 Li Y, et al., Global genetic analysis in mice unveils central role for cilia in congenital heart disease. Nature. 2015 May 28;521(7553):520-4
All references(129)
Disease annotation references (1)
Other
accession IDs
MGD-MRK-10218, MGI:2138891, MGI:2139361, MGI:2444234, MGI:5489921

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
08/18/2015
MGI 6.0
The Jackson Laboratory