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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

LRP2 Gene

protein-coding GIFtS: 63
GCID: GC02M169947

low density lipoprotein receptor-related protein 2

Explore 48 diseases affiliated with
LRP2 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Low Density Lipoprotein Receptor-Related Protein 2¹ ²		Heymann Nephritis Antigen Homolog²
DBS¹ ² ⁵		Low-Density Lipoprotein Receptor-Related Protein 2²
Gp330¹		Megalin³
Glycoprotein 330² ³		Megalin³
LRP-2² ³		EC 1.1.2.3⁸
GP330²		EC 3.4.21.9⁸
Calcium Sensor Protein²

External Ids:	HGNC: 6694¹	Entrez Gene: 4036²	Ensembl: ENSG00000081479⁷	OMIM: 600073⁵	UniProtKB: P98164³

Export aliases for LRP2 gene to outside databases

Previous GC identifers: GC02M168036 GC02M168526 GC02M170187 GC02M169810 GC02M169693 GC02M161880

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for LRP2:

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)

UniProtKB/Swiss-Prot: LRP2_HUMAN, P98164

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

Gene Wiki entry for LRP2

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000002.11 NC_018913.1 NT_005403.17

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the LRP2 gene promoter:
RFX1 Spz1 MAZR POU3F2 (N-Oct-5a) POU3F2 Tal-1beta YY1 E47 MZF-1 Ik-2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: LRP2 promoter sequence

Search SABiosciences Chromatin IP Primers for LRP2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat LRP2

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q24-q31 Ensembl cytogenetic band: 2q31.1 HGNC cytogenetic band: 2q24-q31

LRP2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
LRP2 gene location

GeneLoc information about chromosome 2 GeneLoc Exon Structure

GeneLoc location for GC02M169947: view genomic region (about GC identifiers)

Start:	169,983,619 bp from pter	End:	170,219,195 bp from pter
Size:	235,577 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: LRP2_HUMAN, P98164 (See protein sequence)

Recommended Name: Low-density lipoprotein receptor-related protein 2 precursor

Size: 4655 amino acids; 521958 Da

Subunit: 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

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

1 PDB 3D structure from and Proteopedia for LRP2:

2M0P (3D)

Secondary accessions: O00711 Q16215

Explore the universe of human proteins at neXtProt for LRP2: NX_P98164

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P98164

2 DME Specific Peptides for LRP2 (P98164)

GIPFTLS

CPDGSDE

LRP2 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_004516.2

ENSEMBL proteins:

ENSP00000263816 ENSP00000409813

Reactome Protein details: P98164
Human Recombinant Protein Products:

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	Uscn Proteins for LRP2

Gene Ontology (GO): 5/15 cellular component terms (GO ID links to tree view) (see all 15): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005615	extracellular space	--	--
GO:0005624	membrane fraction	--	--
GO:0005737	cytoplasm	--	--
GO:0005764	lysosome	TAS	7768901
GO:0005768	endosome	IEA	--

LRP2 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for LRP2

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

LRP2 for domains About GeneDecksing

5/13 InterPro domains/families (see all 13):

IPR000033 LDLR_classB_rpt

IPR023415 LDLR_class-A_CS

IPR000742 EG-like_dom

IPR026823 cEGF

IPR000152 EGF-type_Asp/Asn_hydroxyl_site

Graphical View of Domain Structure for InterPro Entry P98164

ProtoNet protein and cluster: P98164

4 Blocks protein families:

IPB000033 Low-density lipoprotein receptor

IPB000152 Aspartic acid and asparagine hydroxylation site

IPB001881 EGF-like calcium-binding

IPB002172 Low density lipoprotein-receptor

UniProtKB/Swiss-Prot: LRP2_HUMAN, P98164

Similarity: Belongs to the LDLR family

Similarity: Contains 17 EGF-like domains

Similarity: Contains 36 LDL-receptor class A domains

Similarity: Contains 37 LDL-receptor class B repeats

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: LRP2_HUMAN, P98164

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

Genatlas biochemistry entry for LRP2:

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

Enzyme Numbers (IUBMB): EC 1.1.2.3² EC 3.4.21.9²

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		hsa-miR-548j hsa-miR-26a-2* hsa-miR-520e hsa-miR-3938 hsa-miR-15a hsa-miR-146a hsa-miR-199a-3p hsa-miR-548a-5p

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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LRP2

Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004872	receptor activity	--	--
GO:0005509	calcium ion binding	IEA	--
GO:0005515	protein binding	IPI	14528014
GO:0017124	SH3 domain binding	IEA	--
GO:0030492	hemoglobin binding	--	--

LRP2 for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-out Lrp2^tm1Her for LRP2
     15/17 MGI mutant phenotypes (inferred from 6 alleles) (MGI details for Lrp2) (see all 17):

behavior/neurological	cellular	craniofacial	digestive/alimentary	embryogenesis
endocrine/exocrine gland	growth/size	hearing/vestibular/ear	homeostasis/metabolism	mortality/aging
nervous system	no phenotypic analysis	renal/urinary system	reproductive system	respiratory system

LRP2 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/7 super-pathways (see all 7) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Retinoid metabolism and transport

	Retinoid metabolism and transport	1.00			Diseases associated with visual transduction	0.73
	Visual phototransduction	0.74

Vitamin D (calciferol) metabolism

	Vitamin D (calciferol) metabolism	1.00			Metabolism of steroid hormones and vitamin D	0.27
	Steroid hormones	0.27

Metabolism

Metabolism

1.00

Metabolism of lipids and lipoproteins

0.34

Disease

Disease

1.00

Signaling events mediated by the Hedgehog family

Signaling events mediated by the Hedgehog family

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 BioSystems Pathway for LRP2

Signaling events mediated by the Hedgehog family

5/10 Reactome Pathways for LRP2 (see all 10)

	Diseases associated with visual transduction
	Metabolism
	Steroid hormones
	Vitamin D (calciferol) metabolism
	Visual phototransduction

1 Kegg Pathway (Kegg details for LRP2):

Hedgehog signaling pathway

LRP2 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for LRP2

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/66 Interacting proteins for LRP2 (P98164^{2, 3} ENSP00000263816⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 66)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ABL1	P00519²^,³, ENSP00000361423⁴	MINT-8110503 I2D: score=3 STRING: ENSP00000361423
ATN1	P54259²^,³, ENSP00000349076⁴	MINT-2860530 I2D: score=3 STRING: ENSP00000349076
DAB2	P98082³, ENSP00000313391⁴	I2D: score=3 STRING: ENSP00000313391
DLG4	P78352³, ENSP00000293813⁴	I2D: score=3 STRING: ENSP00000293813
MAPK8IP1	Q9UQF2³, ENSP00000241014⁴	I2D: score=3 STRING: ENSP00000241014

About this table

Gene Ontology (GO): 5/21 biological process terms (GO ID links to tree view) (see all 21): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006486	protein glycosylation	TAS	2786251
GO:0006629	lipid metabolic process	TAS	7768901
GO:0006766	vitamin metabolic process	--	--
GO:0006897	endocytosis	TAS	7768901
GO:0006898	receptor-mediated endocytosis	IEA	--

LRP2 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

LRP2 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for LRP2

1 HMDB Compound for LRP2 About this table

Compound	Synonyms	CAS #	PubMed Ids
Calcium	Ca (see all 2)	7440-70-2	--

4 DrugBank Compounds for LRP2 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Insulin, porcine	--	9004-14-2	target	--	9051350 17016423 17139284 17018843 9773776
Urokinase	U-plasminogen activator (see all 3)	9039-53-6	target	--	17139284 1280065 7959795 8241286 17016423
Gentamicin	--	1403-66-3	target	other/unknown	15777622 16488503 15023454
Insulin recombinant	--	9004-10-8	target	--	17139284 17016423

10/27 Novoseek chemical compound relationships for LRP2 gene (see all 27) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
calcium	53.6	137	1861632 (4), 1382088 (3), 9872924 (2), 9336177 (2) (see all 72)
vitamin b12	47.8	8	8710919 (2), 9334227 (1), 12879166 (1), 9792428 (1) (see all 6)
aminoglycosides	46.3	11	16679740 (3), 7544804 (1), 11700326 (1), 19202329 (1) (see all 7)
25-hydroxyvitamin d	45.4	3	19944755 (1), 17395559 (1)
vitamin d	44	8	10671148 (1), 17906399 (1), 17976080 (1), 12671190 (1) (see all 5)
calcitriol	38	2	17906399 (1), 11435522 (1)
cobalamin	35.7	1	12879166 (1)
ryanodine	23.2	3	9202848 (1), 12731896 (1), 10341294 (1)
gentamicin	21.6	3	11880332 (2), 8991602 (1)
dbc-amp	9.73	1	7768901 (1)

1 PharmGKB related drug/compound annotation for LRP2 gene

Drug/compound	PharmGKB Annotation
cisplatin	CA

About this table

Search CenterWatch for drugs/clinical trials and news about LRP2

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for LRP2 gene:

NM_004525.2

Unigene Cluster for LRP2:

Low density lipoprotein receptor-related protein 2

Hs.657729 [show with all ESTs]

Unigene Representative Sequence: NM_004525

5 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000263816(uc002ues.3) ENST00000491228 ENST00000461418 ENST00000443831(uc010zdf.1)

ENST00000493501

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Additional cDNA sequence:

AK295005.1 AK302843.1 AY265357.1 AY265358.1 S73145.1 U04441.1 U33837.1

4 DOTS entries:

DT.308793 DT.75124593 DT.70101705 DT.120996083

24/85 AceView cDNA sequences (see all 85):

R76808 BM929864 AI668574 AU117089 S73145 BF196079 BU754442 AW149108

AL698310 AL698960 BQ023258 AW025388 BF772450 NM_004525 AW296105 BQ025820

U33837 AY265358 BX092849 BG399349 AI820761 BG399256 BF196536 BE765273

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

LRP2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image

LRP2 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

9 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Brain

Choroid Plexus

Mature Choroid Plexus Cells

Choroid Plexus

Hypoblast

Hypoblast Cells

Extraembryonic Tissues

Kidney

Proximal Tubule

Proximal Tubule Cells

Kidney

Brain

Medulla Oblongata

Brain

Neural Tube

Diencephalic Ventricular Zone

Neural Tube

Mesencephalic Ventricular Zone

Neural Tube

Metencephalon

Neural Tube

Telencephalon

Neural Tube

Spinal Cord

Presumptive Spinal Cord

Spinal Cord

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 3 LifeMap Cells

Name

Category

Posterior foregut-like cells (A scalable, suspensi...)

Epiblast-like cells (Reconstitution of mo...)

Human kidney epithelial cell spheroids (Kidney spheroids for...)

See LRP2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for LRP2

SOURCE GeneReport for Unigene cluster: Hs.657729

UniProtKB/Swiss-Prot: LRP2_HUMAN, P98164

Tissue specificity: Absorptive epithelia, including renal proximal tubules

SABiosciences Expression via Pathway-Focused PCR Arrays including LRP2:

Hedgehog Signaling Pathway in human mouse rat

Primary Cilia in human mouse rat

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In Situ
Assay Products:

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for LRP2 gene from 6/20 species (see all 20) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	LRP2¹	low density lipoprotein receptor-related protein 2	73.27(n) 72.43(a)		424168 XM_422014.3 XP_422014.3
lizard (Anolis carolinensis)	Reptilia	LRP2⁶	--	71(a)	1 ↔ 1	GL343362.1(97387-241393)
African clawed frog (Xenopus laevis)	Amphibia	CD255638.1²	--	81.77(n)		CD255638.1
zebrafish (Danio rerio)	Actinopterygii	Dr.20653²	Transcribed sequence with weak similarity to protein more	70.06(n)		CA787580.1
fruit fly (Drosophila melanogaster)	Insecta	CG12139³ Megalin¹	low-density lipoprotein receptor³ CG42611-PA¹	44(a) (best of 2)³ 50.99(n)¹ 44.08(a)¹		8E2³ 8674055¹ NM_001103454.2¹ NP_001096924.2¹
worm (Caenorhabditis elegans)	Secernentea	B0244.8³ lrp-1¹	LDL receptor³ Protein LRP-1¹	35(a) (best of 5)³ 47.78(n)¹ 37.47(a)¹		III(5799386-5801797)³ 172520¹ NM_059726.4¹ NP_492127.1¹

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for LRP2 gene

LRP5² LRP6² SORL1² LRP1B² EGF² LDLR² LRP5L² LRP4²

VLDLR² NID2² NID1² LRP8² LRP1²

9 SIMAP similar genes for LRP2 using alignment to 6 protein entries: LRP2_HUMAN (see all proteins):

ldlr LRP5L LRP4 LRP8 LRP1 LRP1B

LRP5 VLDLR LDLR

LRP2 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 2 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs80338752^1,2	C	pathogenic	170034511(-)	`ACCATC/TGACAC`	2	R *	stg¹		0	--	--	--	--
rs80338747^1,2	C	pathogenic	170062140(-)	`ACCTGC/TACTGG`	2	H Y	mis¹		0	--	--	--	--
rs80338744^1,2	C	pathogenic	170139461(-)	`AAAGCC/TGACCT`	2	R *	stg¹		0	--	--	--	--
rs142549310^1,2	C,F,	other	170030506(+)	`TGCAGC/TGGCCA`	2	H R	mis¹		1		NA	4552
rs186820779^1,2		--	169983155(+)	`CAACCA/GAGCCC`	1	--	ds500¹		0	--	--	--	--
rs189655092^1,2		--	169983223(+)	`CATACA/CCTATG`	1	--	ds500¹		0	--	--	--	--
rs79412653^1,2		--	169983502(+)	`ATTCAA/GTTCCA`	1	--	ds500¹		0	--	--	--	--
rs1331^1,2	H	--	169983768(+)	`TTcatT/Ccattc`	1	--	ut3¹		5		MN NS EA	602
rs144872593^1,2		--	169983946(+)	`GCTCAC/TGCCCG`	1	--	ut3¹		0	--	--	--	--
rs1019334^1,2	C,H	--	169984108(-)	`TATTAG/AAATGT`	1	--	ut3¹		7		MN NS EA NA	784

HapMap Linkage Disequilibrium report for LRP2 (169983619 - 170219195 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 8 variations for LRP2
6 CNVs: 90119 90120 44004 6010 98052 35758
2 Indels: 90122 90121
Human Gene Mutation Database (HGMD): LRP2

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing LRP2

DNA2.0 Custom Variant and Variant Library Synthesis for LRP2

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

LRP2 for disorders           About GeneDecksing

OMIM gene information: 600073
OMIM disorders: 222448
UniProtKB/Swiss-Prot: LRP2_HUMAN, P98164

Defects in LRP2 are the cause of Donnai-Barrow syndrome (DBS) [MIM:222448]; also known as

faciooculoacousticorenal syndrome (FOAR syndrome). DBS is a 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

20/48 diseases for LRP2 (see all 48): About MalaCards

donnai-barrow syndrome nephritis nephropathic cystinosis congenital diaphragmatic hernia

cystinosis dent disease corpus callosum hearing loss

aromatase deficiency membranous glomerulonephritis nephrocalcinosis hypercalciuria

holoprosencephaly anorexia nervosa behcet's disease polycystic kidney disease

lupus erythematosus conduct disorder rheumatoid arthritis hernia

3 diseases from the University of Copenhagen DISEASES database for LRP2:

Nephritis Proteinuria Fanconi syndrome

10/30 Novoseek disease relationships for LRP2 gene (see all 30) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
dent disease	89	12	15052463 (4), 11752029 (2), 19579036 (1), 15338396 (1) (see all 8)
nephropathy membranous	80.4	8	9207124 (1), 16189625 (1), 2133428 (1), 1495959 (1) (see all 7)
glomerulonephritis	70.9	43	2133428 (6), 7944157 (2), 1495959 (2), 8238258 (2) (see all 22)
proteinuria	66.8	14	10514418 (3), 11132040 (1), 12187318 (1), 17729440 (1) (see all 12)
lowe syndrome	65.3	3	11752029 (2), 19579036 (1)
membranous nephritis	63.7	2	10886254 (1)
cystinosis	50.6	1	18455850 (1)
hypercalciuria	47.7	2	15052463 (1), 17708714 (1)
holoprosencephaly	45.3	1	11228189 (1)
albuminuria	40.7	1	19366958 (1)

GeneTests: LRP2

Donnai-Barrow Syndrome

Human Genome Epidemiology (HuGE) Navigator: LRP2 (15 documents)

Export disorders for LRP2 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for LRP2 gene, integrated from 9 sources (see all 360):
(articles sorted by number of sources associating them with LRP2)

Utopia: connect your pdf to the dynamic
world of online information

Chromosomal localization of human genes for the LDL receptor family member glycoprotein 330 (LRP2) and its associated protein RAP (LRPAP1). (PubMed id 7959795)^{1, 2, 3, 7, 9} Korenberg J.R....Argraves W.S. (1994)
Identification of glycoprotein 330 as an endocytic receptor for apolipoprotein J/clusterin. (PubMed id 7768901)^{1, 2, 9} Kounnas M.Z.... Argraves W.S. (1995)
Cytosolic adaptor protein Dab2 is an intracellular ligand of endocytic receptor gp600/megalin. (PubMed id 10769163)^{1, 2, 9} Oleinikov A.V....Makker S.P. (2000)
Cloning and sequencing of human gp330, a Ca(2+)-binding receptor with potential intracellular signaling properties. (PubMed id 8706697)^{1, 2, 9} Hjaelm G.... Morse B. (1996)
Megalin is an endocytic receptor for insulin. (PubMed id 9773776)^{1, 7, 9} Orlando R.A....Farquhar M.G. (1998)
Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes. (PubMed id 17632512)^{1, 2} Kantarci S.... Pober B.R. (2007)
The adaptor disabled-2 binds to the third psi xNPxY sequence on the cytoplasmic tail of megalin. (PubMed id 15134832)^{1, 2} Gallagher H....Newman D.J. (2004)
Functional interaction of megalin with the megalin-binding protein (MegBP), a novel tetratrico peptide repeat-containing adaptor molecule. (PubMed id 12508107)^{1, 2} Petersen H.H.... Willnow T.E. (2003)
A protein involved in calcium sensing of the human parathyroid and placental cytotrophoblast cells belongs to the LDL-receptor protein superfamily. (PubMed id 8187828)^{1, 2} Lundgren S.... Rask L. (1994)
Analysis of plasmin binding and urokinase activation of plasminogen bound to the Heymann nephritis autoantigen, gp330. (PubMed id 1280065)^{7, 9} Kanalas J.J. (1992)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 4036	HGNC: 6694	AceView: LRP2	Ensembl:ENSG00000081479	euGenes: HUgn4036
ECgene: LRP2	Kegg: 4036	H-InvDB: LRP2

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for LRP2	Pharmacogenomics, SNPs, Pathways

Intellectual Property for LRP2 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for LRP2 gene:
Search GeneIP for patents involving LRP2

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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LRP2 Gene

low density lipoprotein receptor-related protein 2

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Donnai-Barrow Syndrome
Autoimmune Diseases
RENAL DISEASE
BEHCET DISEASE
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LRP2 Gene

low density lipoprotein receptor-related protein 2

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