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Aliases & Descriptions for LRP2
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| DBS 1, 2, 5 | | Megalin 3 | | gp330 1, 2, 3 | | megalin 2 |
| | | Descriptions |
|---|
| Glycoprotein 330 3 | | Heymann nephritis antigen homolog 2 | | calcium sensor protein 2 | | low density lipoprotein-related protein 2 2 |
|
| | Search outside databases for aliases for LRP2 genePrevious GC identifers: GC02M168036 GC02M168526 GC02M169947 GC02M170187 GC02M169810 |
Summaries for LRP2(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for LRP2: Lipoprotein receptor-related protein-2 (LRP2), also called glycoprotein-330 or megalin (Farquhar, 1995 [PubMed 7657789]), is part of the Heymann nephritis antigenic complex with RAP (LRPAP1; MIM 104225) (Farquhar et al., 1995 [PubMed 7579068]) and is a member of a family of receptors with structural similarities to the low density lipoprotein receptor (LDLR; MIM 606945).[supplied by OMIM] UniProtKB/Swiss-Prot: LRP2_HUMAN, P98164Function: Acts together with cubilin to mediate HDL endocytosis (By similarity). May participate in regulation of parathyroid-hormone and para-thyroid-hormone-related protein releaseGene Wiki entry for LRP2 |
Genomic Location for LRP2
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Transcription factor binding sites upstream to the LRP2 gene 
Entrez Gene cytogenetic band: 2q24-q31 Ensembl cytogenetic band: 2q31.1 HGNC cytogenetic band: 2q24-q31LRP2 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)
 GeneLoc gene densities for chromosome 2 GeneLoc Exon Structure GeneLoc location for GC02M169693:
(about GC identifiers)
Start:
|
169,691,865 bp from pter |
End:
|
169,927,368 bp from pter |
Size:
|
235,504 bases |
Orientation:
|
minus strand |
RefSeq DNA sequence:- NC_000002.10 NT_005403.16
| Proteins for LRP2
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
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
Subcellular location: Membrane; Single-pass type I membrane protein. Membrane, coated pit
Secondary accessions: O00711 Q16215Post-translational modifications:
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_004516.2
ENSEMBL proteins: ENSP00000263816
Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 
5/11 Gene Ontology (GO) cellular component terms (links to tree view) (see all 11
): About this table
Antibodies for LRP2: Assays for LRP2: | Protein
Domains/ Families for LRP2(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - 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, P98164Similarity: Belongs to the LDLR familySimilarity: Contains 17 EGF-like domainsSimilarity: Contains 36 LDL-receptor class A domainsSimilarity: Contains 37 LDL-receptor class B repeats | Gene Function for LRP2
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_004525
Applied Biosystems Silencer® siRNAs for LRP2
Sigma-Aldrich siRNA and siRNA Panels for LRP2  Sigma-Aldrich shRNA for LRP2  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_004525                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_004525                                  untagged cDNA clone in CMV expression vector: NM_004525 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_004525
UniProtKB/Swiss-Prot: LRP2_HUMAN, P98164Function: Acts together with cubilin to mediate HDL endocytosis (By similarity). May participate in regulation of parathyroid-hormone and para-thyroid-hormone-related protein releaseGenatlas 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 214 MGI mutant phenotypes (inferred from 3 alleles ) (MGI details for Lrp2):
4 Gene Ontology (GO) molecular function terms (links to tree view): About this table | Pathways & Interactions for LRP2
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|
Gene Network CentralTM Interacting Genes and Proteins Network for LRP2 
5/53 Interacting proteins for LRP2 (ENSP000002638163 P981641, 2) via UniProtKB, MINT, and/or STRING (see all 53
)About this table
5/6 Gene Ontology (GO) biological process terms (links to tree view) (see all 6
): About this table
|
Drugs & Compounds for LRP2(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
Browse Tocris compounds for LRP2 10/14 Novoseek chemical compound relationships for LRP2 gene (see all 14
)
| Compound |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| calcium |
53.53 |
132 |
1861632 (4), 1382088 (3), 9872924 (2), 9336177 (2) (see all 68) |
| aminoglycosides |
44.67 |
8 |
16679740 (3), 7544804 (1), 11700326 (1), 17909519 (1) (see all 6) |
| ryanodine |
24.82 |
3 |
9202848 (1), 12731896 (1), 10341294 (1) |
| dbc-amp |
10.85 |
1 |
7768901 (1) |
| lipid |
4.77 |
8 |
11132040 (1), 15457546 (1), 18174661 (1), 15891391 (1) (see all 6) |
| allergens |
4.51 |
2 |
9935306 (1), 9648704 (1) |
| nitric oxide |
3.54 |
1 |
11689164 (1) |
| cholesterol |
3.21 |
11 |
18174661 (2), 15469912 (1), 18791690 (1), 15375181 (1) |
| sodium |
0.00 |
1 |
12620920 (1) |
| phospholipid |
0.00 |
1 |
9727058 (1) |
About this table
|
Transcripts for LRP2(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_004525
Sigma-Aldrich siRNA and siRNA Panels for LRP2  Sigma-Aldrich shRNA for LRP2  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_004525 REFSEQ mRNAs for LRP2 gene: NM_004525.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_004525               OriGene GFP tagged cDNA clone in CMV expression vector: NM_004525                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_004525                                  untagged cDNA clone in CMV expression vector: NM_004525  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
):BQ025820 AY265358 AW025388 S73145 AL698960 BF772450 AW149108 AI668574 U33837 AL698310 BQ023258 AW296105 BF196079 BU754442 R76808 NM_004525 BM929864 AU117089 BG399256 BG399349 AI470538 CD673312 AL713126 AI821456
highest scoring ESTs for LRP2:U33837 AY265357 AY265358 AA507421 AI025985 AI307253 AI308239 AI436683 AI613124 AI760092 Unigene Cluster for LRP2: Low density lipoprotein-related protein 2 Hs.657729 [show with all ESTs]Unigene Representative Sequence: NM_004525
GeneLoc Exon Structure
1 Ensembl transcript including schematic representation: ENST00000263816
|
Expression for LRP2
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| LRP2 expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for LRP2
1 / 2 / 3 6 probe-sets matching LRP2 gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: --
SOURCE GeneReport for Unigene cluster: Hs.657729
Expression variation in blood from EXPOLDB for LRP2 UniProtKB/Swiss-Prot: LRP2_HUMAN, P98164Tissue specificity: Absorptive epithelia, including renal proximal tubules |
Orthologs for LRP2
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for LRP2 gene from 5/14 species (see all 14
)
About this table Species with no ortholog for LRP2
ENSEMBL Gene Tree for LRP2 | Paralogs for LRP2(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for LRP2 gene
- VLDLR2 LDLR2 LRP82
|
SNPs/Variants for LRP2(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for LRP2 (up to first 250kb)
|
Disorders & Mutations for LRP2
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 600073 disorders: 222448 UniProtKB/Swiss-Prot: LRP2_HUMAN, P98164
Defects in LRP2 are the cause of Donnai-Barrow syndrome (DBS) [MIM:222448]; also called faciooculoacousticorenal (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 entity10/29 Novoseek disease relationships for LRP2 gene (see all 29
)
| Disease |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| dent disease |
89.34 |
11 |
15052463 (4), 11752029 (2), 15338396 (1), 18025833 (1) (see all 7) |
| nephropathy membranous |
80.14 |
8 |
9207124 (1), 16189625 (1), 2133428 (1), 1495959 (1) (see all 7) |
| glomerulonephritis |
71.82 |
43 |
2133428 (6), 7944157 (2), 1495959 (2), 8238258 (2) (see all 22) |
| proteinuria |
65.55 |
13 |
10514418 (3), 11132040 (1), 12187318 (1), 17729440 (1) (see all 11) |
| membranous nephritis |
64.51 |
2 |
10886254 (1) |
| cystinosis |
52.56 |
1 |
18455850 (1) |
| lowe syndrome |
50.51 |
2 |
11752029 (2) |
| hypercalciuria |
49.01 |
2 |
15052463 (1), 17708714 (1) |
| holoprosencephaly |
47.36 |
1 |
11228189 (1) |
| nephrocalcinosis |
38.14 |
1 |
15052463 (1) |
About this table
GeneTests: LRP2 Donnai-Barrow Syndrome Human Gene Mutation Database: LRP2 Human Genome Epidemiology Navigator: LRP2 (4 documents)
|
Medical News for LRP2(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for LRP2 (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/309 PubMed articles for LRP2 gene (see all 309
):- 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, 4 Korenberg J.R....Argraves W.S. (1994)
- Identification of glycoprotein 330 as an endocytic receptor for apolipoprotein J/clusterin. (PubMed id 7768901)1, 3, 4 Kounnas M.Z.... Argraves W.S. (1995)
- Cloning and sequencing of human gp330, a Ca(2+)-binding receptor with potential intracellular signaling properties. (PubMed id 8706697)1, 3, 4 Hjaelm G.... Morse B. (1996)
- Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes. (PubMed id 17632512)3, 4 Kantarci S.... Pober B.R. (2007)
- Functional interaction of megalin with the megalinbinding protein (MegBP), a novel tetratrico peptide repeat-containing adaptor molecule. (PubMed id 12508107)3, 4 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)3, 4 Lundgren S.... Rask L. (1994)
- The Heymann nephritis antigenic complex: megalin (gp330) and RAP. (PubMed id 7579068)1, 3 Farquhar M.G....Orlando R.A. (1995)
- Autoantibodies to low-density-lipoprotein-receptor-related protein 2 (LRP2) in systemic autoimmune diseases. (PubMed id 12723989)1, 3 Ooka S....Kato T. (2003)
- Evidence for the role of megalin in renal uptake of transthyretin. (PubMed id 10982792)1, 3 Sousa M.M....Saraiva M.J. (2000)
- The membrane-associated guanylate kinase protein MAGI-1 binds megalin and is present in glomerular podocytes. (PubMed id 11274227)1, 3 Patrie K.M....Margolis B. (2001)
|
Search for LRP2
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing LRP2
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing LRP2
(According to HUGE)
About This Section
| -- |
Specialized Databases showing LRP2(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| About This Section
| --
| Services for LRP2(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
| 
 Products for LRP2:

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