Lrp2
Gene Detail

Symbol Name ID

Lrp2 low density lipoprotein receptor-related protein 2 MGI:95794

Synonyms

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 zebrafish

Protein SuperFamily: LDL receptor-related protein
Gene Tree: Lrp2

Human homologs

Human Homolog		LRP2, low density lipoprotein receptor-related protein 2
NCBI Gene ID		4036
neXtProt AC		NX_P98164
Human Synonyms		DBS, GP330
Human Chr (Location)		2q24-q31; chr2:169983619-170219122 (-)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human LRP2

Alleles and phenotypes

All alleles(28) : Targeted(5) Gene trapped(21) Chemically induced(2)
 

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 Using Mouse Lrp2 (1)    Alleles Annotated to Human Diseases(1)   

Gene Ontology (GO) classifications

All GO classifications: (43 annotations)

Process	cell proliferation, endocytosis, ...
Component	apical part of cell, apical plasma membrane, ...
Function	calcium ion binding, hemoglobin binding, ...

External Resources: FuncBase

Expression

Literature Summary: (27 records)
Data Summary: Results (180)    Tissues (62)    Images (26)
Theiler Stages: 9, 10, 19, 23, 24, 26

Assay Type	Results
Immunohistochemistry	43
RNA in situ	137

cDNA source data(127)
External Resources: Allen Institute   GENSAT   GEO   ArrayExpress

Molecular reagents

All nucleic(131) cDNA(129) Primer pair(2)
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 Knockout Project Status	Lrp2

Sequences

Length	Strain/Species
genomic	OTTMUSG00000012988	VEGA Gene Model | MGI Sequence Detail	161726	C57BL/6J
transcript	OTTMUST00000031293	VEGA | MGI Sequence Detail	15460	Not Applicable
polypeptide	OTTMUSP00000014001	VEGA | MGI Sequence Detail	4660	Not Applicable

All sequences(51) RefSeq(3) UniProt(3)

Polymorphisms

All PCR and RFLP(3) : PCR(1) RFLP(2) SNPs(1153 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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	Growth factor, receptor
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:186668 Leshchiner I, et al., Mutation mapping and identification by whole-genome sequencing. Genome Res. 2012 Aug;22(8):1541-8
All references(114)

Other accession IDs

MGD-MRK-10218, MGI:2138891, MGI:2139361, MGI:2444234