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

    Gene ID: 14725, updated on 9-Dec-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See Lrp2 in Genome Data Viewer
    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_000068.8Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_04731 Neighboring gene ATP-binding cassette, sub-family B member 11 Neighboring gene STARR-seq mESC enhancer starr_04732 Neighboring gene predicted gene, 36393 Neighboring gene dehydrogenase/reductase 9 Neighboring gene STARR-seq mESC enhancer starr_04734 Neighboring gene STARR-seq mESC enhancer starr_04735 Neighboring gene STARR-seq mESC enhancer starr_04736 Neighboring gene STARR-seq mESC enhancer starr_04740 Neighboring gene STARR-seq mESC enhancer starr_04741 Neighboring gene STARR-positive B cell enhancer ABC_E7822 Neighboring gene STARR-positive B cell enhancer ABC_E5928 Neighboring gene Bardet-Biedl syndrome 5 Neighboring gene kelch-like 41

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    Preferred Names
    low-density lipoprotein receptor-related protein 2
    Names
    glycoprotein 330

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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)

    1. NM_001081088.2NP_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:29082939
      LDLa; Low-density lipoprotein receptor domain class A
      smart00135
      Location:15021544
      LY; Low-density lipoprotein-receptor YWTD domain
      smart00179
      Location:13911430
      EGF_CA; Calcium-binding EGF-like domain
      cd00112
      Location:37613795
      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:10651101
      Ldl_recept_a; Low-density lipoprotein receptor domain class A
      pfam00058
      Location:33353375
      Ldl_recept_b; Low-density lipoprotein receptor repeat class B
      pfam12662
      Location:31343157
      cEGF; Complement Clr-like EGF-like
      pfam14670
      Location:13541389
      FXa_inhibition; Coagulation Factor Xa inhibitory site
      cl00057
      Location:31493192
      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 ...

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000068.8 Reference GRCm39 C57BL/6J

      Range
      69254679..69416373 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)