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Aliases for LRP2 Gene

Aliases for LRP2 Gene

  • LDL Receptor Related Protein 2 2 3 5
  • Megalin 2 3 4
  • Glycoprotein 330 3 4
  • LRP-2 3 4
  • Low-Density Lipoprotein Receptor-Related Protein 2 3
  • Low Density Lipoprotein Receptor-Related Protein 2 2
  • Heymann Nephritis Antigen Homolog 3
  • Calcium Sensor Protein 3
  • GP330 3
  • Gp330 4
  • 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 1. Among its related pathways are Metabolism and Statin Pathway. Gene Ontology (GO) annotations related to this gene include calcium ion binding and SH3 domain binding. An important paralog of this gene is LRP1.

UniProtKB/Swiss-Prot for LRP2 Gene

  • Multiligand endocytic receptor (By similarity). Acts together with CUBN to mediate endocytosis of high-density lipoproteins (By similarity). Mediates receptor-mediated uptake of polybasic drugs such as aprotinin, aminoglycosides and polymyxin B (By similarity). In the kidney, mediates the tubular uptake and clearance of leptin (By similarity). Also mediates transport of leptin across the blood-brain barrier through endocytosis at the choroid plexus epithelium (By similarity). Endocytosis of leptin in neuronal cells is required for hypothalamic leptin signaling and leptin-mediated regulation of feeding and body weight (By similarity). Mediates endocytosis and subsequent lysosomal degradation of CST3 in kidney proximal tubule cells (By similarity). Mediates renal uptake of 25-hydroxyvitamin D3 in complex with the vitamin D3 transporter GC/DBP (By similarity). Mediates renal uptake of metallothionein-bound heavy metals (PubMed:15126248). Together with CUBN, mediates renal reabsorption of myoglobin (By similarity). Mediates renal uptake and subsequent lysosomal degradation of APOM (By similarity). Plays a role in kidney selenium homeostasis by mediating renal endocytosis of selenoprotein SEPP1 (By similarity). Mediates renal uptake of the antiapoptotic protein BIRC5/survivin which may be important for functional integrity of the kidney (PubMed:23825075). Mediates renal uptake of matrix metalloproteinase MMP2 in complex with metalloproteinase inhibitor TIMP1 (By similarity). Mediates endocytosis of Sonic hedgehog protein N-product (ShhN), the active product of SHH (By similarity). Also mediates ShhN transcytosis (By similarity). In the embryonic neuroepithelium, mediates endocytic uptake and degradation of BMP4, is required for correct SHH localization in the ventral neural tube and plays a role in patterning of the ventral telencephalon (By similarity). Required at the onset of neurulation to sequester SHH on the apical surface of neuroepithelial cells of the rostral diencephalon ventral midline and to control PTCH1-dependent uptake and intracellular trafficking of SHH (By similarity). During neurulation, required in neuroepithelial cells for uptake of folate bound to the folate receptor FOLR1 which is necessary for neural tube closure (By similarity). In the adult brain, negatively regulates BMP signaling in the subependymal zone which enables neurogenesis to proceed (By similarity). In astrocytes, mediates endocytosis of ALB which is required for the synthesis of the neurotrophic factor oleic acid (By similarity). Involved in neurite branching (By similarity). During optic nerve development, required for SHH-mediated migration and proliferation of oligodendrocyte precursor cells (By similarity). Mediates endocytic uptake and clearance of SHH in the retinal margin which protects retinal progenitor cells from mitogenic stimuli and keeps them quiescent (By similarity). Plays a role in reproductive organ development by mediating uptake in reproductive tissues of androgen and estrogen bound to the sex hormone binding protein SHBG (By similarity). Mediates endocytosis of angiotensin-2 (By similarity). Also mediates endocytosis of angiotensis 1-7 (By similarity). Binds to the complex composed of beta-amyloid protein 40 and CLU/APOJ and mediates its endocytosis and lysosomal degradation (By similarity). Required for embryonic heart development (By similarity). Required for normal hearing, possibly through interaction with estrogen in the inner ear (By similarity).

Gene Wiki entry for LRP2 Gene

Additional gene information for LRP2 Gene

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

Genomics for LRP2 Gene

GeneHancer (GH) Regulatory Elements for LRP2 Gene

Promoters and enhancers for LRP2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J169363 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 652.7 -1.7 -1657 2.1 PKNOX1 ATF1 ZFP64 SIN3A FEZF1 YY1 ZNF121 GLIS2 MCM3 ZNF662 LRP2 PPIG PHOSPHO2 SSB GC02M169338
GH02J169360 Promoter/Enhancer 1.6 EPDnew Ensembl dbSUPER 650.7 +0.7 699 2.1 PKNOX1 ZFP64 SIN3A FEZF1 ZNF2 GLIS2 ZNF143 FOS SP3 SP5 LRP2 GC02M169338 GC02P169326
GH02J169341 Enhancer 0.8 dbSUPER 0.4 +15.6 15641 11.4 PKNOX1 INSM2 KLF17 MZF1 FEZF1 ZNF121 ZNF366 EGR2 OVOL3 ZNF843 ENSG00000235321 SSB KLHL23 LRP2 GC02P169326 GC02M169338
GH02J169353 Enhancer 0.5 dbSUPER 0.4 +8.1 8125 1.3 ZNF316 RFX1 NR2F1 BMI1 LRP2 GC02M169338 GC02P169326
GH02J169129 Enhancer 0.9 ENCODE 0.1 +233.0 232959 0.9 PKNOX1 ATF1 ARNT TCF12 ZNF766 GATA2 ATF7 ZNF592 GMEB1 SMARCA4 ENSG00000235321 UBE2V1P6 GC02M169275 LRP2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LRP2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the LRP2 gene promoter:
  • Spz1
  • MAZR
  • Tal-1beta
  • E47
  • YY1
  • RFX1
  • MZF-1
  • Ik-2
  • POU3F2
  • POU3F2 (N-Oct-5a)

Genomic Locations for LRP2 Gene

Genomic Locations for LRP2 Gene
chr2:169,127,109-169,362,685
(GRCh38/hg38)
Size:
235,577 bases
Orientation:
Minus strand
chr2:169,983,619-170,219,195
(GRCh37/hg19)
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 (PubMed:7768901). Forms a multimeric complex together with LRPAP1 (PubMed:1400426). Interacts (via PxLPxI/L motif) with ANKRA2 (via ankyrin repeats) (By similarity). Interacts with LRP2BP (PubMed:12508107). Interacts (via NPXY motif) with DAB2; the interaction is not affected by tyrosine phosphorylation of the NPXY motif (PubMed:10769163, PubMed:15134832). Interacts with MB (By similarity). Interacts with BMP4 (By similarity). Interacts with the Sonic hedgehog protein N-product which is the active product of SHH (By similarity). Interacts with CST3 in a calcium-dependent manner (PubMed:17462596). Interacts with the vitamin-D binding protein GC/DBP (By similarity). Interacts with sex hormone-binding protein SHBG (PubMed:16143106). Interacts with angiotensin-2 (By similarity). Also interacts with angiotensin 1-7 (By similarity). Interacts with APOM (By similarity). Interacts with selenoprotein SEPP1 (By similarity). Interacts with LEP (By similarity). Interacts with ALB (By similarity). Interacts with the antiapoptotic protein BIRC5/survivin (PubMed:23825075). Interacts with matrix metalloproteinase MMP2 in complex with metalloproteinase inhibitor TIMP1 (By similarity). In neurons, forms a trimeric complex with APP and APPB1/FE65 (By similarity). Interacts with LDLRAP1/ARH; mediates trafficking of LRP2 to the endocytic recycling compartment (By similarity). Does not interact with beta-amyloid protein 40 alone but interacts with the complex composed of beta-amyloid protein 40 and CLU/APOJ (By similarity).

    Three dimensional structures from OCA and Proteopedia for LRP2 Gene

neXtProt entry for LRP2 Gene

Post-translational modifications for LRP2 Gene

  • A fraction undergoes proteolytic cleavage of the extracellular domain at the cell membrane to generate a cytoplasmic tail fragment. This is internalized into the early endosome from where it trafficks in an LDLRAP1/ARH-dependent manner to the endocytic recycling compartment (ERC). In the ERC, it is further cleaved by gamma-secretase to release a fragment which translocates to the nucleus and mediates transcriptional repression.
  • N-glycosylation is required for ligand binding.
  • Glycosylation at posLast=43274327, posLast=40684068, isoforms=3978, posLast=37973797, posLast=36803680, isoforms=3564, posLast=34463446, isoforms=3355, posLast=33153315, posLast=32573257, posLast=32113211, isoforms=3125, posLast=30743074, posLast=30703070, isoforms=2987, isoforms=2947, posLast=28102810, posLast=28092809, isoforms=2781, isoforms=2547, posLast=24992499, posLast=22242224, posLast=21772177, posLast=20552055, isoforms=1810, isoforms=1675, isoforms=1550, posLast=14961496, isoforms=1464, posLast=13831383, isoforms=1340, isoforms=1327, isoforms=1273, posLast=12701270, isoforms=1186, isoforms=1144, posLast=10641064, isoforms=866, posLast=463463, isoforms=388, isoforms=341, isoforms=300, posLast=299299, posLast=178178, and posLast=159159
  • Modification sites at PhosphoSitePlus

Other Protein References for LRP2 Gene

No data available for DME Specific Peptides for LRP2 Gene

Domains & Families for LRP2 Gene

Gene Families for LRP2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted membrane proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for LRP2 Gene

Graphical View of Domain Structure for InterPro Entry

P98164

UniProtKB/Swiss-Prot:

LRP2_HUMAN :
  • Two overlapping PxLPxI/L motifs mediate interaction with ankyrin repeats of ANKRA2.
  • Belongs to the LDLR family.
Domain:
  • Two overlapping PxLPxI/L motifs mediate interaction with ankyrin repeats of ANKRA2.
  • The cytoplasmic domain is required for sorting to the apical cell membrane.
Family:
  • Belongs to the LDLR family.
genes like me logo Genes that share domains with LRP2: view

Function for LRP2 Gene

Molecular function for LRP2 Gene

UniProtKB/Swiss-Prot Function:
Multiligand endocytic receptor (By similarity). Acts together with CUBN to mediate endocytosis of high-density lipoproteins (By similarity). Mediates receptor-mediated uptake of polybasic drugs such as aprotinin, aminoglycosides and polymyxin B (By similarity). In the kidney, mediates the tubular uptake and clearance of leptin (By similarity). Also mediates transport of leptin across the blood-brain barrier through endocytosis at the choroid plexus epithelium (By similarity). Endocytosis of leptin in neuronal cells is required for hypothalamic leptin signaling and leptin-mediated regulation of feeding and body weight (By similarity). Mediates endocytosis and subsequent lysosomal degradation of CST3 in kidney proximal tubule cells (By similarity). Mediates renal uptake of 25-hydroxyvitamin D3 in complex with the vitamin D3 transporter GC/DBP (By similarity). Mediates renal uptake of metallothionein-bound heavy metals (PubMed:15126248). Together with CUBN, mediates renal reabsorption of myoglobin (By similarity). Mediates renal uptake and subsequent lysosomal degradation of APOM (By similarity). Plays a role in kidney selenium homeostasis by mediating renal endocytosis of selenoprotein SEPP1 (By similarity). Mediates renal uptake of the antiapoptotic protein BIRC5/survivin which may be important for functional integrity of the kidney (PubMed:23825075). Mediates renal uptake of matrix metalloproteinase MMP2 in complex with metalloproteinase inhibitor TIMP1 (By similarity). Mediates endocytosis of Sonic hedgehog protein N-product (ShhN), the active product of SHH (By similarity). Also mediates ShhN transcytosis (By similarity). In the embryonic neuroepithelium, mediates endocytic uptake and degradation of BMP4, is required for correct SHH localization in the ventral neural tube and plays a role in patterning of the ventral telencephalon (By similarity). Required at the onset of neurulation to sequester SHH on the apical surface of neuroepithelial cells of the rostral diencephalon ventral midline and to control PTCH1-dependent uptake and intracellular trafficking of SHH (By similarity). During neurulation, required in neuroepithelial cells for uptake of folate bound to the folate receptor FOLR1 which is necessary for neural tube closure (By similarity). In the adult brain, negatively regulates BMP signaling in the subependymal zone which enables neurogenesis to proceed (By similarity). In astrocytes, mediates endocytosis of ALB which is required for the synthesis of the neurotrophic factor oleic acid (By similarity). Involved in neurite branching (By similarity). During optic nerve development, required for SHH-mediated migration and proliferation of oligodendrocyte precursor cells (By similarity). Mediates endocytic uptake and clearance of SHH in the retinal margin which protects retinal progenitor cells from mitogenic stimuli and keeps them quiescent (By similarity). Plays a role in reproductive organ development by mediating uptake in reproductive tissues of androgen and estrogen bound to the sex hormone binding protein SHBG (By similarity). Mediates endocytosis of angiotensin-2 (By similarity). Also mediates endocytosis of angiotensis 1-7 (By similarity). Binds to the complex composed of beta-amyloid protein 40 and CLU/APOJ and mediates its endocytosis and lysosomal degradation (By similarity). Required for embryonic heart development (By similarity). Required for normal hearing, possibly through interaction with estrogen in the inner ear (By similarity).
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

Phenotypes From GWAS Catalog for LRP2 Gene

Gene Ontology (GO) - Molecular Function for LRP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005041 low-density lipoprotein particle receptor activity TAS --
GO:0005509 calcium ion binding IDA,IEA 23275343
GO:0005515 protein binding IPI,IEA 9773776
GO:0008144 drug binding ISS --
GO:0017124 SH3 domain binding IEA --
genes like me logo Genes that share ontologies with LRP2: view
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

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for LRP2 Gene

Localization for LRP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LRP2 Gene

Apical cell membrane; Single-pass type I membrane protein. Endosome lumen. Membrane, coated pit. Cell projection, dendrite. Cell projection, axon. Note=Localizes to brush border membranes in the kidney. In the endolymphatic sac of the inner ear, located in the lumen of endosomes as a soluble form. {ECO:0000250 UniProtKB:P98158}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LRP2 gene
Compartment Confidence
plasma membrane 5
extracellular 5
lysosome 5
endosome 4
endoplasmic reticulum 3
golgi apparatus 3
mitochondrion 2
cytoskeleton 1
peroxisome 1
nucleus 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for LRP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome TAS 7768901
GO:0005765 lysosomal membrane HDA 17897319
GO:0005768 endosome IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005794 Golgi apparatus IEA --
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:0001843 neural tube closure IEA,ISS --
GO:0003139 secondary heart field specification IEA,ISS --
GO:0003148 outflow tract septum morphogenesis IEA,ISS --
GO:0003223 ventricular compact myocardium morphogenesis IEA,ISS --
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: DrugBank, PharmGKB, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Gentamicin Approved, Vet_approved Pharma Target, other/unknown 0
calcium Approved Nutra 0
Insulin Human Approved, Investigational Pharma Target 0
Insulin Pork Approved Pharma Target 0
Urokinase Approved, Investigational, Withdrawn Pharma Target 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with LRP2: view

Transcripts for LRP2 Gene

mRNA/cDNA for LRP2 Gene

Unigene Clusters for LRP2 Gene

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

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for LRP2 Gene



Protein tissue co-expression partners for LRP2 Gene

NURSA nuclear receptor signaling pathways regulating expression of LRP2 Gene:

LRP2

SOURCE GeneReport for Unigene cluster for LRP2 Gene:

Hs.657729

mRNA Expression by UniProt/SwissProt for LRP2 Gene:

P98164-LRP2_HUMAN
Tissue specificity: Expressed in first and third trimester cytotrophoblasts in the placenta (at protein level) (PubMed:27798286). Absorptive epithelia, including renal proximal tubules.

Evidence on tissue expression from TISSUES for LRP2 Gene

  • Kidney(5)
  • Nervous system(3.7)
  • Thyroid gland(2.4)
  • Blood(2)
  • Urine(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for LRP2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cheek
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • nose
  • outer ear
  • scalp
  • skull
Thorax:
  • diaphragm
  • lung
Abdomen:
  • abdominal wall
  • intestine
  • kidney
  • large intestine
  • liver
  • small intestine
  • stomach
General:
  • blood
  • blood vessel
  • coagulation system
  • hair
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns with LRP2: view

Orthologs for LRP2 Gene

This gene was present in the common ancestor of animals.

Orthologs for LRP2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LRP2 34 33
  • 99.47 (n)
OneToOne
dog
(Canis familiaris)
Mammalia LRP2 34 33
  • 84.7 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Lrp2 16 34 33
  • 80.05 (n)
cow
(Bos Taurus)
Mammalia LRP2 34 33
  • 79.94 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lrp2 33
  • 79.68 (n)
oppossum
(Monodelphis domestica)
Mammalia LRP2 34
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LRP2 34
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves LRP2 34 33
  • 73.28 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LRP2 34
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lrp2 33
  • 69.04 (n)
zebrafish
(Danio rerio)
Actinopterygii lrp2a 34 33
  • 65.91 (n)
OneToOne
Dr.20653 33
fruit fly
(Drosophila melanogaster)
Insecta mgl 34 33
  • 51 (n)
OneToOne
CG12139 35
  • 44 (a)
yl 35
  • 29 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000331 33
  • 48.46 (n)
worm
(Caenorhabditis elegans)
Secernentea lrp-1 34 35 33
  • 47.87 (n)
OneToOne
B0244.8 35
  • 35 (a)
R01H2.3 35
  • 31 (a)
T21E3.3 35
  • 30 (a)
rme-2 35
  • 28 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 44 (a)
OneToOne
Species where no ortholog for LRP2 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for LRP2: view image

Paralogs for LRP2 Gene

Paralogs for LRP2 Gene

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

  • LRP2_HUMAN
  • E9PC35_HUMAN
  • L8E983_HUMAN
  • Q4ZG84_HUMAN
  • Q53TL0_HUMAN
  • Q9NP34_HUMAN
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 Variation AA Info Type
rs1013121704 uncertain-significance, Donnai Barrow syndrome 169,127,441(-) G/A 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant
rs111360923 uncertain-significance, Donnai Barrow syndrome 169,275,038(-) T/A/C coding_sequence_variant, genic_upstream_transcript_variant, missense_variant
rs111704488 likely-benign, benign, not specified, not provided, Donnai Barrow syndrome 169,282,877(-) A/C coding_sequence_variant, genic_upstream_transcript_variant, missense_variant
rs111733491 likely-pathogenic, Retinal dystrophy 169,236,027(-) C/A/G/T coding_sequence_variant, missense_variant
rs112157558 uncertain-significance, Donnai Barrow syndrome 169,146,727(-) C/T intron_variant

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

Variant ID Type Subtype PubMed ID
esv1010911 CNV deletion 20482838
esv2053158 CNV deletion 18987734
esv2179866 CNV deletion 18987734
esv2639235 CNV deletion 19546169
esv2665220 CNV deletion 23128226
esv2721110 CNV deletion 23290073
esv2721111 CNV deletion 23290073
esv2721112 CNV deletion 23290073
esv2721113 CNV deletion 23290073
esv2762961 CNV gain 21179565
esv2841013 CNV deletion 24192839
esv3305014 CNV mobile element insertion 20981092
esv3305140 CNV mobile element insertion 20981092
esv3351441 CNV insertion 20981092
esv3412743 CNV insertion 20981092
esv3560512 CNV deletion 23714750
nsv214965 CNV deletion 16902084
nsv3024 CNV deletion 18451855
nsv498944 CNV loss 21111241
nsv528457 CNV gain 19592680
nsv834453 CNV gain 17160897
nsv998902 CNV gain 25217958

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)

Additional Variant Information for LRP2 Gene

Human Gene Mutation Database (HGMD)
LRP2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
LRP2

SNP Genotyping and Copy Number Assay Products

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

Disorders for LRP2 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
donnai-barrow syndrome
  • faciooculoacousticorenal syndrome
dent disease 1
  • nephrolithiasis, hypercalciuric, x-linked
membranous nephropathy
  • membranous nephropathy, susceptibility to
lowe oculocerebrorenal syndrome
  • ocrl
cystinosis
  • cystine storage disease
- 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.

Additional Disease Information for LRP2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 JR … Argraves WS (Genomics 1994) 2 3 4 22 58
  2. A megalin polymorphism associated with promoter activity and Alzheimer's disease risk. (PMID: 20052685) Vargas T … Carro E (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2010) 3 22 44 58
  3. Association of megalin genetic polymorphisms with prostate cancer risk and prognosis. (PMID: 18559602) Holt SK … Ostrander EA (Clinical cancer research : an official journal of the American Association for Cancer Research 2008) 3 22 44 58
  4. Megalin genetic polymorphisms and individual sensitivity to the ototoxic effect of cisplatin. (PMID: 17457342) Riedemann L … am Zehnhoff-Dinnesen A (The pharmacogenomics journal 2008) 3 22 44 58
  5. Genetic association of low-density lipoprotein receptor-related protein 2 (LRP2) with plasma lipid levels. (PMID: 18174661) Mii A … Katayama Y (Journal of atherosclerosis and thrombosis 2007) 3 22 44 58

Products for LRP2 Gene

Sources for LRP2 Gene

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