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Aliases for LRP2 Gene

Aliases for LRP2 Gene

  • LDL Receptor Related Protein 2 2 3 5
  • Megalin 2 3 4
  • Low Density Lipoprotein Receptor-Related Protein 2 2 3
  • Glycoprotein 330 3 4
  • GP330 3 4
  • LRP-2 3 4
  • Heymann Nephritis Antigen Homolog 3
  • Calcium Sensor Protein 3
  • EC 3.4.21.9 63
  • EC 1.1.2.3 63
  • DBS 3

External Ids for LRP2 Gene

Previous GeneCards Identifiers for LRP2 Gene

  • GC02M168036
  • GC02M168526
  • GC02M169947
  • GC02M170187
  • GC02M169810
  • GC02M169693
  • GC02M161880

Summaries for LRP2 Gene

Entrez Gene Summary for LRP2 Gene

  • The protein encoded by this gene, low density lipoprotein-related protein 2 (LRP2) or megalin, is a multi-ligand endocytic receptor that is expressed in many different tissues but primarily in absorptive epithilial tissues such as the kidney. This glycoprotein has a large amino-terminal extracellular domain, a single transmembrane domain, and a short carboxy-terminal cytoplasmic tail. The extracellular ligand-binding-domains bind diverse macromolecules including albumin, apolipoproteins B and E, and lipoprotein lipase. The LRP2 protein is critical for the reuptake of numerous ligands, including lipoproteins, sterols, vitamin-binding proteins, and hormones. This protein also has a role in cell-signaling; extracellular ligands include parathyroid horomones and the morphogen sonic hedgehog while cytosolic ligands include MAP kinase scaffold proteins and JNK interacting proteins. Recycling of this membrane receptor is regulated by phosphorylation of its cytoplasmic domain. Mutations in this gene cause Donnai-Barrow syndrome (DBS) and facio-oculoacoustico-renal syndrome (FOAR).[provided by RefSeq, Aug 2009]

GeneCards Summary for LRP2 Gene

LRP2 (LDL Receptor Related Protein 2) is a Protein Coding gene. Diseases associated with LRP2 include donnai-barrow syndrome and dent disease. Among its related pathways are Signaling by GPCR and Metabolism. GO annotations related to this gene include calcium ion binding and SH3 domain binding. An important paralog of this gene is LRP1B.

UniProtKB/Swiss-Prot for LRP2 Gene

  • Acts together with cubilin to mediate HDL endocytosis (By similarity). May participate in regulation of parathyroid-hormone and para-thyroid-hormone-related protein release.

Gene Wiki entry for LRP2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LRP2 Gene

Genomics for LRP2 Gene

Regulatory Elements for LRP2 Gene

Genomic Location for LRP2 Gene

Chromosome:
2
Start:
169,127,109 bp from pter
End:
169,362,685 bp from pter
Size:
235,577 bases
Orientation:
Minus strand

Genomic View for LRP2 Gene

Genes around LRP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LRP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LRP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LRP2 Gene

Proteins for LRP2 Gene

  • Protein details for LRP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P98164-LRP2_HUMAN
    Recommended name:
    Low-density lipoprotein receptor-related protein 2
    Protein Accession:
    P98164
    Secondary Accessions:
    • O00711
    • Q16215

    Protein attributes for LRP2 Gene

    Size:
    4655 amino acids
    Molecular mass:
    521958 Da
    Quaternary structure:
    • Binds plasminogen, extracellular matrix components, plasminogen activator-plasminogen activator inhibitor type I complex, apolipoprotein E-enriched beta-VLDL, lipoprotein lipase, lactoferrin, CLU/clusterin and calcium. Forms a multimeric complex together with a receptor-associated protein (RAP). Binds to ankyrin-repeat family A protein 2 (ANKRA2). Interacts with LRP2BP. Interacts (via NPXY motif) with DAB2; the interaction is not affected by tyrosine phosphorylation of the NPXY motif.

    Three dimensional structures from OCA and Proteopedia for LRP2 Gene

neXtProt entry for LRP2 Gene

Proteomics data for LRP2 Gene at MOPED

Selected DME Specific Peptides for LRP2 Gene

Post-translational modifications for LRP2 Gene

  • Glycosylation at Asn 159, Asn 178, Asn 299, Asn 300, Asn 341, Asn 388, Asn 463, Asn 866, Asn 1064, Asn 1144, Asn 1186, Thr 1270, Ser 1273, Asn 1327, Asn 1340, Asn 1383, Asn 1464, Asn 1496, Asn 1550, Asn 1675, Asn 1810, Asn 2055, Asn 2177, Asn 2224, Asn 2499, Asn 2547, Asn 2781, Asn 2809, Asn 2810, Asn 2947, Asn 2987, Thr 3070, Thr 3074, Asn 3125, Asn 3211, Asn 3257, Asn 3315, Asn 3355, Asn 3446, Asn 3564, Asn 3680, Thr 3797, Asn 3978, Asn 4068, and Asn 4327
  • Modification sites at PhosphoSitePlus

Other Protein References for LRP2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

Domains & Families for LRP2 Gene

Gene Families for LRP2 Gene

Suggested Antigen Peptide Sequences for LRP2 Gene

Graphical View of Domain Structure for InterPro Entry

P98164

UniProtKB/Swiss-Prot:

LRP2_HUMAN :
  • Contains 17 EGF-like domains.
  • Belongs to the LDLR family.
  • Contains 37 LDL-receptor class B repeats.
Domain:
  • Contains 17 EGF-like domains.
  • Contains 36 LDL-receptor class A domains.
Family:
  • Belongs to the LDLR family.
Similarity:
  • Contains 37 LDL-receptor class B repeats.
genes like me logo Genes that share domains with LRP2: view

Function for LRP2 Gene

Molecular function for LRP2 Gene

GENATLAS Biochemistry:
multifunctional clearance receptor,Ca++ binding megalin (glycoprotein 330,gp330),LDLR receptor superfamily,expressed in the neuroepithelium and in proximal tubular cells of the kidney,possessing broad ligand specificity and mediating the uptake and lysosomal degradation of macromolecules including lipoproteins,proteases and protease inhibitors and in vivo the Ca2+ sensing in the parathyroids and renal uptake and activation of CYP25D1A,also expressed on the apical surfaces of epithelial cells lining specific regions of the male and female reproductive tracts and in seminal vesicle (rat) where it acts as an endocytic receptor for seminal vesicle secretory protein 2
UniProtKB/Swiss-Prot Function:
Acts together with cubilin to mediate HDL endocytosis (By similarity). May participate in regulation of parathyroid-hormone and para-thyroid-hormone-related protein release.

Enzyme Numbers (IUBMB) for LRP2 Gene

genes like me logo Genes that share phenotypes with LRP2: view

Human Phenotype Ontology for LRP2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for LRP2 Gene

MGI Knock Outs for LRP2:

Animal Model Products

miRNA for LRP2 Gene

miRTarBase miRNAs that target LRP2

No data available for Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for LRP2 Gene

Localization for LRP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LRP2 Gene

Membrane; Single-pass type I membrane protein. Membrane, coated pit.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for LRP2 Gene COMPARTMENTS Subcellular localization image for LRP2 gene
Compartment Confidence
extracellular 5
lysosome 5
plasma membrane 5
vacuole 5
endosome 4
endoplasmic reticulum 3
golgi apparatus 3
mitochondrion 2
cytoskeleton 1
cytosol 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for LRP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome TAS 7768901
GO:0005783 endoplasmic reticulum IEA --
GO:0016020 membrane IEA --
GO:0016324 apical plasma membrane IEA,ISS --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with LRP2: view

Pathways & Interactions for LRP2 Gene

genes like me logo Genes that share pathways with LRP2: view

Gene Ontology (GO) - Biological Process for LRP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001523 retinoid metabolic process TAS --
GO:0003281 ventricular septum development IEA --
GO:0006629 lipid metabolic process TAS 7768901
GO:0006897 endocytosis TAS 7768901
GO:0006898 receptor-mediated endocytosis IEA --
genes like me logo Genes that share ontologies with LRP2: view

No data available for SIGNOR curated interactions for LRP2 Gene

Drugs & Compounds for LRP2 Gene

(23) Drugs for LRP2 Gene - From: Novoseek, DrugBank, ApexBio, HMDB, and PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Gentamicin Approved Pharma Target, other/unknown 0
Insulin Regular Approved, Experimental, Investigational Pharma Target 0
Insulin, porcine Approved Pharma Target 0
Urokinase Approved, Investigational, Withdrawn Pharma Target 0
Cisplatin Approved Pharma Inhibits DNA synthesis,chemotherapy drug, Platinum 2540

(9) Additional Compounds for LRP2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(1) ApexBio Compounds for LRP2 Gene

Compound Action Cas Number
COG 133 ApoE mimetic peptide 514200-66-9
genes like me logo Genes that share compounds with LRP2: view

Transcripts for LRP2 Gene

Unigene Clusters for LRP2 Gene

Low density lipoprotein receptor-related protein 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for LRP2 Gene

No ASD Table

Relevant External Links for LRP2 Gene

GeneLoc Exon Structure for
LRP2
ECgene alternative splicing isoforms for
LRP2

Expression for LRP2 Gene

mRNA expression in normal human tissues for LRP2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for LRP2 Gene

This gene is overexpressed in Kidney - Cortex (x15.1), Brain - Spinal cord (cervical c-1) (x7.9), Thyroid (x7.2), and Brain - Substantia nigra (x5.3).

Protein differential expression in normal tissues from HIPED for LRP2 Gene

This gene is overexpressed in Urine (47.5) and Kidney (17.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for LRP2 Gene



SOURCE GeneReport for Unigene cluster for LRP2 Gene Hs.657729

mRNA Expression by UniProt/SwissProt for LRP2 Gene

P98164-LRP2_HUMAN
Tissue specificity: Absorptive epithelia, including renal proximal tubules.
genes like me logo Genes that share expression patterns with LRP2: view

Protein tissue co-expression partners for LRP2 Gene

Primer Products

In Situ Assay Products

Orthologs for LRP2 Gene

This gene was present in the common ancestor of animals.

Orthologs for LRP2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia LRP2 35
  • 79.94 (n)
  • 71.57 (a)
LRP2 36
  • 71 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LRP2 35
  • 84.7 (n)
  • 79.27 (a)
LRP2 36
  • 79 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Lrp2 35
  • 80.05 (n)
  • 76.95 (a)
Lrp2 16
Lrp2 36
  • 77 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia LRP2 35
  • 99.47 (n)
  • 99.48 (a)
LRP2 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lrp2 35
  • 79.68 (n)
  • 76.65 (a)
oppossum
(Monodelphis domestica)
Mammalia LRP2 36
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LRP2 36
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves LRP2 35
  • 73.28 (n)
  • 72.43 (a)
LRP2 36
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LRP2 36
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lrp2 35
  • 69.04 (n)
  • 69.57 (a)
zebrafish
(Danio rerio)
Actinopterygii Dr.20653 35
lrp2a 35
  • 65.91 (n)
  • 66.31 (a)
lrp2a 36
  • 66 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG12139 37
  • 44 (a)
yl 37
  • 29 (a)
mgl 35
  • 51 (n)
  • 44.05 (a)
mgl 36
  • 41 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000331 35
  • 48.46 (n)
  • 43.57 (a)
worm
(Caenorhabditis elegans)
Secernentea B0244.8 37
  • 35 (a)
lrp-1 37
  • 34 (a)
R01H2.3 37
  • 31 (a)
rme-2 37
  • 28 (a)
T21E3.3 37
  • 30 (a)
lrp-1 35
  • 47.87 (n)
  • 37.45 (a)
lrp-1 36
  • 35 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 44 (a)
OneToOne
Species with no ortholog for LRP2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for LRP2 Gene

ENSEMBL:
Gene Tree for LRP2 (if available)
TreeFam:
Gene Tree for LRP2 (if available)

Paralogs for LRP2 Gene

Paralogs for LRP2 Gene

(9) SIMAP similar genes for LRP2 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with LRP2: view

Variants for LRP2 Gene

Sequence variations from dbSNP and Humsavar for LRP2 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
VAR_005421 -
rs2228171 - 169,196,995(-) AATGC(A/C/G/T)CATCT reference, missense
rs2075252 - 169,154,475(-) ATCCC(A/G)AGGAC reference, missense
rs4667591 - 169,146,922(+) CTCGA(G/T)TTTAG reference, missense
rs2228168 - 169,212,054(-) TTTCA(C/G/T)TGTTG reference, missense

Structural Variations from Database of Genomic Variants (DGV) for LRP2 Gene

Variant ID Type Subtype PubMed ID
nsv528457 CNV Gain 19592680
esv269418 CNV Insertion 20981092
esv269292 CNV Insertion 20981092
esv1010911 CNV Deletion 20482838
nsv3024 CNV Loss 18451855
esv2639235 CNV Deletion 19546169
esv2179866 CNV Deletion 18987734
esv2665220 CNV Deletion 23128226
nsv498944 CNV Loss 21111241
nsv214965 CNV Loss 16902084
esv2721110 CNV Deletion 23290073
nsv834453 CNV Gain 17160897
esv2721111 CNV Deletion 23290073
esv2053158 CNV Deletion 18987734
esv2721112 CNV Deletion 23290073
esv2721113 CNV Deletion 23290073

Variation tolerance for LRP2 Gene

Residual Variation Intolerance Score: 68.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.30; 85.21% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for LRP2 Gene

HapMap Linkage Disequilibrium report
LRP2
Human Gene Mutation Database (HGMD)
LRP2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LRP2 Gene

Disorders for LRP2 Gene

MalaCards: The human disease database

(14) MalaCards diseases for LRP2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
donnai-barrow syndrome
  • faciooculoacousticorenal syndrome
dent disease
  • dent disease 2
congenital diaphragmatic hernia
  • diaphragmatic hernia
cystinosis
  • cystine storage disease
fanconi syndrome
  • fanconi-bickel syndrome
- elite association - COSMIC cancer census association via MalaCards
Search LRP2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

LRP2_HUMAN
  • Donnai-Barrow syndrome (DBS) [MIM:222448]: Rare autosomal recessive disorder characterized by major malformations including agenesis of the corpus callosum, congenital diaphragmatic hernia, facial dysmorphology, ocular anomalies, sensorineural hearing loss and developmental delay. The FOAR syndrome was first described as comprising facial anomalies, ocular anomalies, sensorineural hearing loss, and proteinuria. DBS and FOAR were first described as distinct disorders but the classic distinguishing features between the 2 disorders were presence of proteinuria and absence of diaphragmatic hernia and corpus callosum anomalies in FOAR. Early reports noted that the 2 disorders shared many phenotypic features and may be identical. Although there is variability in the expression of some features (e.g., agenesis of the corpus callosum and proteinuria), DBS and FOAR are now considered to represent the same entity. {ECO:0000269 PubMed:17632512}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for LRP2

Genetic Association Database (GAD)
LRP2
Human Genome Epidemiology (HuGE) Navigator
LRP2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LRP2
genes like me logo Genes that share disorders with LRP2: view

No data available for Genatlas for LRP2 Gene

Publications for LRP2 Gene

  1. Chromosomal localization of human genes for the LDL receptor family member glycoprotein 330 (LRP2) and its associated protein RAP (LRPAP1). (PMID: 7959795) Korenberg J.R. … Argraves W.S. (Genomics 1994) 2 3 4 23 25 67
  2. Megalin is an endocytic receptor for insulin. (PMID: 9773776) Orlando R.A. … Farquhar M.G. (J. Am. Soc. Nephrol. 1998) 3 23 25
  3. A megalin polymorphism associated with promoter activity and Alzheimer's disease risk. (PMID: 20052685) Vargas T. … Carro E. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2010) 3 23
  4. Interaction of coagulation factor VIII with members of the low-density lipoprotein receptor family follows common mechanism and involves consensus residues within the A2 binding site 484-509. (PMID: 18685438) Ananyeva N.M. … Saenko E.L. (Blood Coagul. Fibrinolysis 2008) 3 23
  5. Megalin genetic polymorphisms and individual sensitivity to the ototoxic effect of cisplatin. (PMID: 17457342) Riedemann L. … am Zehnhoff-Dinnesen A. (Pharmacogenomics J. 2008) 3 23

Products for LRP2 Gene

Sources for LRP2 Gene

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