Lrp2 low density lipoprotein receptor-related protein 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Lrp2provided by MGI
Official Full Name: low density lipoprotein receptor-related protein 2provided by MGI
Primary source: MGI:MGI:95794
See related: Ensembl:ENSMUSG00000027070 AllianceGenome:MGI:95794
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Gp330; Megalin; b2b1625.2Clo; D230004K18Rik
Summary: Predicted to enable several functions, including PDZ domain binding activity; insulin-like growth factor I binding activity; and low-density lipoprotein particle receptor binding activity. Involved in several processes, including circulatory system development; nervous system development; and reproductive structure development. Acts upstream of or within several processes, including circulatory system development; cranial skeletal system development; and vitamin D metabolic process. Located in several cellular components, including brush border membrane; clathrin-coated pit; and cytoplasmic vesicle. Is expressed in several structures, including egg cylinder; heart and pericardium; metanephros; ureter; and ventricular layer. Used to study Donnai-Barrow syndrome; Fanconi syndrome; and degenerative myopia. Human ortholog(s) of this gene implicated in Donnai-Barrow syndrome and autoimmune thyroiditis. Orthologous to human LRP2 (LDL receptor related protein 2). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in kidney adult (RPKM 131.9) and placenta adult (RPKM 33.9) See more
Orthologs: human all
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Genomic context

Location:: 2 C2; 2 40.74 cM

Exon count:: 79

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (69254679..69416373, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (69424335..69586029, complement)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

SARS-CoV-2 infection causes a decline in renal megalin expression and affects vitamin D metabolism in the kidney of K18-hACE2 mice.
Title: SARS-CoV-2 infection causes a decline in renal megalin expression and affects vitamin D metabolism in the kidney of K18-hACE2 mice.
Low Density Lipoprotein Receptor-related Protein 2 Expression and Function in Cultured Astrocytes and Microglia.
Title: Low Density Lipoprotein Receptor-related Protein 2 Expression and Function in Cultured Astrocytes and Microglia.
Megalin is involved in angiotensinogen-induced, angiotensin II-mediated ERK1/2 signaling to activate Na + -H + exchanger 3 in proximal tubules.
Title: Megalin is involved in angiotensinogen-induced, angiotensin II-mediated ERK1/2 signaling to activate Na + -H + exchanger 3 in proximal tubules.
Proprotein convertase subtilisin/kexin type 9 targets megalin in the kidney proximal tubule and aggravates proteinuria in nephrotic syndrome.
Title: Proprotein convertase subtilisin/kexin type 9 targets megalin in the kidney proximal tubule and aggravates proteinuria in nephrotic syndrome.
Variants of LRP2, encoding a multifunctional cell-surface endocytic receptor, associated with hearing loss and retinal dystrophy.
Title: Variants of LRP2, encoding a multifunctional cell-surface endocytic receptor, associated with hearing loss and retinal dystrophy.
LRP2 contributes to planar cell polarity-dependent coordination of motile cilia function.
Title: LRP2 contributes to planar cell polarity-dependent coordination of motile cilia function.
Megalin, cubilin, and Dab2 drive endocytic flux in kidney proximal tubule cells.
Title: Megalin, cubilin, and Dab2 drive endocytic flux in kidney proximal tubule cells.
Structures of LRP2 reveal a molecular machine for endocytosis.
Title: Structures of LRP2 reveal a molecular machine for endocytosis.
An Adaptable Physiological Model of Endocytic Megalin Trafficking in Opossum Kidney Cells and Mouse Kidney Proximal Tubule.
Title: An Adaptable Physiological Model of Endocytic Megalin Trafficking in Opossum Kidney Cells and Mouse Kidney Proximal Tubule.
Postnatal eye size in mice is controlled by SREBP2-mediated transcriptional repression of Lrp2 and Bmp2.
Title: Postnatal eye size in mice is controlled by SREBP2-mediated transcriptional repression of Lrp2 and Bmp2.

Submit: New GeneRIF Correction See all GeneRIFs (84)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (4) 1 citation
Endonuclease-mediated (3)
Targeted (5) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:548414

Lrp2 (e-PCR), detects polymorphism
- UniSTS:143235

Lrp2 (e-PCR), detects polymorphism
- UniSTS:545952

D2Mit524 (e-PCR), detects polymorphism
- UniSTS:129440

NoName (e-PCR)
- UniSTS:234416

D2Mit327 (e-PCR), detects polymorphism
- UniSTS:129220

AW536255 (e-PCR)
- UniSTS:178635

MHAa84g10.seq (e-PCR)
- UniSTS:125390

RH126651 (e-PCR)
- UniSTS:207340

AI315343 (e-PCR)
- UniSTS:158970

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables PDZ domain binding	ISO Inferred from Sequence Orthology more info
enables SH3 domain binding	IEA Inferred from Electronic Annotation more info
enables calcium ion binding	ISO Inferred from Sequence Orthology more info
enables calcium ion binding	ISS Inferred from Sequence or Structural Similarity more info
enables cargo receptor activity	ISO Inferred from Sequence Orthology more info
enables hemoglobin binding	ISO Inferred from Sequence Orthology more info
enables hormone binding	IBA Inferred from Biological aspect of Ancestor more info
enables hormone binding	ISO Inferred from Sequence Orthology more info
enables insulin-like growth factor I binding	ISO Inferred from Sequence Orthology more info
enables low-density lipoprotein particle receptor binding	ISO Inferred from Sequence Orthology more info
enables nuclear receptor binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein transporter activity	ISO Inferred from Sequence Orthology more info
enables protein-containing complex binding	ISO Inferred from Sequence Orthology more info
enables protein-folding chaperone binding	IEA Inferred from Electronic Annotation more info
enables protein-folding chaperone binding	ISO Inferred from Sequence Orthology more info
enables signaling receptor activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed

Process	Evidence Code	Pubs
involved_in amyloid-beta clearance	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within aorta development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to growth factor stimulus	ISO Inferred from Sequence Orthology more info
involved_in chemoattraction of axon	ISO Inferred from Sequence Orthology more info
involved_in coronary artery morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within coronary vasculature development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cranial skeletal system development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within diol metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in endocytic hemoglobin import into cell	ISO Inferred from Sequence Orthology more info
involved_in endocytosis	ISO Inferred from Sequence Orthology more info
involved_in endosomal transport	ISO Inferred from Sequence Orthology more info
involved_in folate import across plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within forebrain development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within heart development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within kidney development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in male gonad development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in metal ion transport	ISO Inferred from Sequence Orthology more info
involved_in metal ion transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of BMP signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of apoptotic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of negative regulation of apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in neural tube closure	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neuron projection arborization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within outflow tract morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in outflow tract septum morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA Inferred from Electronic Annotation more info
involved_in phosphatidylinositol 3-kinase/protein kinase B signal transduction	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of endocytosis	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of lipoprotein transport	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of neurogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of oligodendrocyte progenitor proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein import	ISO Inferred from Sequence Orthology more info
involved_in protein transport	IDA Inferred from Direct Assay more info	PubMed
involved_in protein transport	ISO Inferred from Sequence Orthology more info
involved_in pulmonary artery morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in receptor-mediated endocytosis	IBA Inferred from Biological aspect of Ancestor more info
involved_in receptor-mediated endocytosis	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within receptor-mediated endocytosis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in receptor-mediated endocytosis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in receptor-mediated endocytosis	ISO Inferred from Sequence Orthology more info
involved_in response to X-ray	ISO Inferred from Sequence Orthology more info
involved_in response to leptin	IDA Inferred from Direct Assay more info	PubMed
involved_in response to leptin	ISO Inferred from Sequence Orthology more info
involved_in secondary heart field specification	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sensory perception of sound	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in transcytosis	ISO Inferred from Sequence Orthology more info
involved_in vagina development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ventricular compact myocardium morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within ventricular septum development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within vitamin D metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
located_in apical part of cell	IDA Inferred from Direct Assay more info	PubMed
is_active_in apical plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in apical plasma membrane	ISO Inferred from Sequence Orthology more info
located_in apical plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in axon	IDA Inferred from Direct Assay more info	PubMed
located_in axonal growth cone	ISO Inferred from Sequence Orthology more info
located_in brush border	IDA Inferred from Direct Assay more info	PubMed
located_in brush border	ISO Inferred from Sequence Orthology more info
located_in brush border membrane	IDA Inferred from Direct Assay more info	PubMed
located_in brush border membrane	ISO Inferred from Sequence Orthology more info
located_in brush border membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in cell surface	ISO Inferred from Sequence Orthology more info
located_in clathrin-coated pit	IDA Inferred from Direct Assay more info	PubMed
located_in dendrite	IDA Inferred from Direct Assay more info	PubMed
located_in endocytic vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in endosome	IDA Inferred from Direct Assay more info	PubMed
located_in endosome	ISO Inferred from Sequence Orthology more info
located_in endosome lumen	IEA Inferred from Electronic Annotation more info
located_in external side of plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular space	ISO Inferred from Sequence Orthology more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info
part_of receptor complex	IBA Inferred from Biological aspect of Ancestor more info
part_of receptor complex	ISO Inferred from Sequence Orthology more info	PubMed
part_of receptor complex	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: low-density lipoprotein receptor-related protein 2

Names: glycoprotein 330

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001081088.2 → NP_001074557.1 low-density lipoprotein receptor-related protein 2 precursor

See identical proteins and their annotated locations for NP_001074557.1

Status: VALIDATED

Source sequence(s)

AL845489

Consensus CDS

CCDS38135.1

UniProtKB/Swiss-Prot

A2ARV4, P70215, Q3TL35, Q9JLB3

Related

ENSMUSP00000079752.6, ENSMUST00000080953.12

Conserved Domains (9) summary

smart00192
Location:2908 → 2939

LDLa; Low-density lipoprotein receptor domain class A

smart00135
Location:1502 → 1544

LY; Low-density lipoprotein-receptor YWTD domain

smart00179
Location:1391 → 1430

EGF_CA; Calcium-binding EGF-like domain

cd00112
Location:3761 → 3795

LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...

pfam00057
Location:1065 → 1101

Ldl_recept_a; Low-density lipoprotein receptor domain class A

pfam00058
Location:3335 → 3375

Ldl_recept_b; Low-density lipoprotein receptor repeat class B

pfam12662
Location:3134 → 3157

cEGF; Complement Clr-like EGF-like

pfam14670
Location:1354 → 1389

FXa_inhibition; Coagulation Factor Xa inhibitory site

cl00057
Location:3149 → 3192

vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...