Details for: LRP5

Gene ID: 4041

Symbol: LRP5

Ensembl ID: ENSG00000162337

Description: LDL receptor related protein 5

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 167.1540
    Cell Significance Index: -26.0000
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 101.2051
    Cell Significance Index: -25.6700
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 51.4945
    Cell Significance Index: -20.9200
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 38.2402
    Cell Significance Index: -25.6600
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 21.8698
    Cell Significance Index: -20.8800
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 21.4444
    Cell Significance Index: -26.4400
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 9.5862
    Cell Significance Index: -25.6800
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 7.8955
    Cell Significance Index: -17.2800
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 6.7333
    Cell Significance Index: -26.5700
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 2.2979
    Cell Significance Index: 373.7300
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 2.0041
    Cell Significance Index: 397.7300
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 1.8494
    Cell Significance Index: 103.7800
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.5468
    Cell Significance Index: 80.3500
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 1.5429
    Cell Significance Index: 25.9900
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 1.4463
    Cell Significance Index: 157.3200
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 1.3028
    Cell Significance Index: 37.5400
  • Cell Name: tuft cell of small intestine (CL0009080)
    Fold Change: 1.1687
    Cell Significance Index: 11.7900
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.9201
    Cell Significance Index: 42.9000
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.8947
    Cell Significance Index: 68.6600
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.8304
    Cell Significance Index: 57.4300
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.8165
    Cell Significance Index: 37.0100
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.6534
    Cell Significance Index: 18.2600
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.5199
    Cell Significance Index: 51.4300
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.5104
    Cell Significance Index: 278.7600
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.4333
    Cell Significance Index: 22.5700
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.4024
    Cell Significance Index: 5.4900
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.3860
    Cell Significance Index: 69.5900
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.3235
    Cell Significance Index: 39.7800
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.2964
    Cell Significance Index: 7.6200
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.2705
    Cell Significance Index: 5.7600
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.2625
    Cell Significance Index: 7.0100
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 0.2416
    Cell Significance Index: 3.6200
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.1675
    Cell Significance Index: 7.8700
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.1645
    Cell Significance Index: 72.7300
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.1335
    Cell Significance Index: 2.7700
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.1225
    Cell Significance Index: 4.3100
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.1181
    Cell Significance Index: 15.1400
  • Cell Name: serous secreting cell of bronchus submucosal gland (CL4033005)
    Fold Change: 0.1099
    Cell Significance Index: 1.1000
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.1020
    Cell Significance Index: 2.7800
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.1002
    Cell Significance Index: 45.4800
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0932
    Cell Significance Index: 175.4600
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.0839
    Cell Significance Index: 15.9700
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0722
    Cell Significance Index: 49.9700
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 0.0705
    Cell Significance Index: 1.0400
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.0681
    Cell Significance Index: 1.4600
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0640
    Cell Significance Index: 98.5100
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.0572
    Cell Significance Index: 51.6500
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.0556
    Cell Significance Index: 3.4200
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0499
    Cell Significance Index: 8.5200
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.0311
    Cell Significance Index: 4.2700
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0250
    Cell Significance Index: 15.9000
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.0202
    Cell Significance Index: 0.2900
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0165
    Cell Significance Index: 30.5200
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0015
    Cell Significance Index: 2.0100
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.0005
    Cell Significance Index: 0.0400
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0065
    Cell Significance Index: -4.0300
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0112
    Cell Significance Index: -2.2400
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.0121
    Cell Significance Index: -0.1300
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0122
    Cell Significance Index: -9.0500
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0208
    Cell Significance Index: -15.2400
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0214
    Cell Significance Index: -16.2200
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0233
    Cell Significance Index: -3.0100
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0289
    Cell Significance Index: -16.3000
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0467
    Cell Significance Index: -3.3000
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0536
    Cell Significance Index: -19.2400
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0669
    Cell Significance Index: -14.0900
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0719
    Cell Significance Index: -20.6800
  • Cell Name: subcutaneous adipocyte (CL0002521)
    Fold Change: -0.0804
    Cell Significance Index: -0.3500
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0818
    Cell Significance Index: -2.6200
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0987
    Cell Significance Index: -14.3400
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.1083
    Cell Significance Index: -1.8100
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.1096
    Cell Significance Index: -8.1700
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.1119
    Cell Significance Index: -13.0400
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.1158
    Cell Significance Index: -1.7100
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.1241
    Cell Significance Index: -12.6800
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1254
    Cell Significance Index: -14.3700
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.1284
    Cell Significance Index: -14.6600
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.1836
    Cell Significance Index: -2.6300
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1864
    Cell Significance Index: -19.4100
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: -0.1975
    Cell Significance Index: -3.0000
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.2038
    Cell Significance Index: -5.3600
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.2134
    Cell Significance Index: -25.1700
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -0.2899
    Cell Significance Index: -2.6700
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2905
    Cell Significance Index: -23.0100
  • Cell Name: adipocyte of breast (CL0002617)
    Fold Change: -0.2994
    Cell Significance Index: -3.7700
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.3484
    Cell Significance Index: -9.3400
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.3494
    Cell Significance Index: -21.4200
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.3592
    Cell Significance Index: -7.0100
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.3729
    Cell Significance Index: -6.3900
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.3853
    Cell Significance Index: -25.9100
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.3890
    Cell Significance Index: -11.1500
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.3942
    Cell Significance Index: -4.2900
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.4237
    Cell Significance Index: -9.1800
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.4347
    Cell Significance Index: -9.1000
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: -0.4352
    Cell Significance Index: -7.3200
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.4851
    Cell Significance Index: -7.3100
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.4921
    Cell Significance Index: -12.3000
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.5042
    Cell Significance Index: -31.7800
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.5227
    Cell Significance Index: -23.1200
  • Cell Name: lung secretory cell (CL1000272)
    Fold Change: -0.5280
    Cell Significance Index: -4.0200

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** LRP5 is a transmembrane protein that belongs to the low-density lipoprotein receptor (LDLR) family. It consists of six immunoglobulin-like domains and a cytoplasmic tail. LRP5 is expressed in various tissues, including the retina, kidney, and bone marrow. Its expression is tightly regulated by Wnt signaling, which modulates its transcription and localization. LRP5 interacts with Wnt ligands to form a complex that activates the canonical Wnt signaling pathway, leading to the regulation of target genes involved in cell proliferation, differentiation, and survival. **Pathways and Functions** LRP5 is involved in several signaling pathways, including: 1. **Canonical Wnt signaling pathway**: LRP5 interacts with Wnt ligands to activate the canonical Wnt signaling pathway, which regulates cell proliferation, differentiation, and survival. 2. **Cell-cell signaling**: LRP5 regulates cell-cell signaling by interacting with Wnt ligands and modulating the activity of other signaling proteins. 3. **Apoptotic process**: LRP5 regulates the apoptotic process by interacting with Wnt ligands and modulating the activity of pro-apoptotic and anti-apoptotic proteins. 4. **Bone remodeling**: LRP5 regulates bone remodeling by interacting with Wnt ligands and modulating the activity of osteoblasts and osteoclasts. 5. **Cardiovascular diseases**: LRP5 regulates cardiovascular diseases by interacting with Wnt ligands and modulating the activity of endothelial cells and smooth muscle cells. **Clinical Significance** LRP5 dysregulation has been implicated in various diseases, including: 1. **Bone disorders**: LRP5 mutations have been associated with bone disorders, such as osteoporosis and bone cancer. 2. **Cardiovascular diseases**: LRP5 dysregulation has been implicated in cardiovascular diseases, such as atherosclerosis and hypertension. 3. **Cancer**: LRP5 dysregulation has been implicated in various cancers, including breast cancer, prostate cancer, and colon cancer. 4. **Immunological disorders**: LRP5 dysregulation has been implicated in immunological disorders, such as autoimmune diseases and immunodeficiency disorders. In conclusion, LRP5 is a critical component of the canonical Wnt signaling pathway, playing a pivotal role in various developmental and physiological processes. Its dysregulation has been implicated in numerous diseases, including bone disorders, cardiovascular diseases, and cancer. Further research is needed to fully understand the complex functions of LRP5 in the immune system and its potential implications in immunological disorders.

Genular Protein ID: 1400285235

Symbol: LRP5_HUMAN

Name: N/A

UniProtKB Accession Codes:

O75197 Q96TD6 Q9UES7 Q9UP66

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CORUM 1 CTD 1 ChEMBL 1 ChiTaRS 1 DIP 1 DNASU 1 DisGeNET 1 ELM 1 EMBL 8 Ensembl 1 ExpressionAtlas 1 GO 53 Gene3D 3 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyConnect 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 8 KEGG 1 MANE-Select 1 MIM 19 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 9 OrthoDB 1 PANTHER 2 PIR 1 PIRSF 1 PRINTS 1 PRO 1 PROSITE 3 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 6 RefSeq 2 SIGNOR 1 SMART 3 SMR 1 STRING 1 SUPFAM 3 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 9790987

Title: Molecular cloning and characterization of LR3, a novel LDL receptor family protein with mitogenic activity.

PubMed ID: 9790987

DOI: 10.1006/bbrc.1998.9545

PubMed ID: 9714764

Title: Cloning of a novel member of the low-density lipoprotein receptor family.

PubMed ID: 9714764

DOI: 10.1016/s0378-1119(98)00311-4

PubMed ID: 11401438

Title: The sequence and gene characterization of a 400-kb candidate region for IDDM4 on chromosome 11q13.

PubMed ID: 11401438

DOI: 10.1006/geno.2000.6492

PubMed ID: 12509515

Title: Low-density lipoprotein receptor-related protein 5 (LRP5) is essential for normal cholesterol metabolism and glucose-induced insulin secretion.

PubMed ID: 12509515

DOI: 10.1073/pnas.0133792100

PubMed ID: 16554811

Title: Human chromosome 11 DNA sequence and analysis including novel gene identification.

PubMed ID: 16554811

DOI: 10.1038/nature04632

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 17488095

Title: Requirement for natively unstructured regions of mesoderm development candidate 2 in promoting low-density lipoprotein receptor-related protein 6 maturation.

PubMed ID: 17488095

DOI: 10.1021/bi700049g

PubMed ID: 11448771

Title: Head inducer Dickkopf-1 is a ligand for Wnt coreceptor LRP6.

PubMed ID: 11448771

DOI: 10.1016/s0960-9822(01)00290-1

PubMed ID: 15778503

Title: Sclerostin binds to LRP5/6 and antagonizes canonical Wnt signaling.

PubMed ID: 15778503

DOI: 10.1074/jbc.m413274200

PubMed ID: 15908424

Title: SOST is a ligand for LRP5/LRP6 and a Wnt signaling inhibitor.

PubMed ID: 15908424

DOI: 10.1074/jbc.m504308200

PubMed ID: 16513652

Title: Negative regulation of LRP6 function by casein kinase I epsilon phosphorylation.

PubMed ID: 16513652

DOI: 10.1074/jbc.m510580200

PubMed ID: 19746449

Title: A cell-based Dkk1 binding assay reveals roles for extracellular domains of LRP5 in Dkk1 interaction and highlights differences between wild-type and the high bone mass mutant LRP5(G171V).

PubMed ID: 19746449

DOI: 10.1002/jcb.22335

PubMed ID: 18762581

Title: Caprin-2 enhances canonical Wnt signaling through regulating LRP5/6 phosphorylation.

PubMed ID: 18762581

DOI: 10.1083/jcb.200803147

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 11336703

Title: Low-density lipoprotein receptor-related protein-5 binds to Axin and regulates the canonical Wnt signaling pathway.

PubMed ID: 11336703

DOI: 10.1016/s1097-2765(01)00224-6

PubMed ID: 14731402

Title: A mechanism for Wnt coreceptor activation.

PubMed ID: 14731402

DOI: 10.1016/s1097-2765(03)00484-2

PubMed ID: 15143163

Title: The LRP5 high-bone-mass G171V mutation disrupts LRP5 interaction with Mesd.

PubMed ID: 15143163

DOI: 10.1128/mcb.24.11.4677-4684.2004

PubMed ID: 20393562

Title: APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex.

PubMed ID: 20393562

DOI: 10.1038/nature08875

PubMed ID: 11741193

Title: A mutation in the LDL receptor-related protein 5 gene results in the autosomal dominant high-bone-mass trait.

PubMed ID: 11741193

DOI: 10.1086/338450

PubMed ID: 12579474

Title: Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density.

PubMed ID: 12579474

DOI: 10.1086/368277

PubMed ID: 15024691

Title: Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q.

PubMed ID: 15024691

DOI: 10.1086/383202

PubMed ID: 15077203

Title: Polymorphisms in the low-density lipoprotein receptor-related protein 5 (LRP5) gene are associated with variation in vertebral bone mass, vertebral bone size, and stature in whites.

PubMed ID: 15077203

DOI: 10.1086/420771

PubMed ID: 15346351

Title: Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5.

PubMed ID: 15346351

DOI: 10.1086/425080

PubMed ID: 16252235

Title: Clinical and molecular findings in osteoporosis-pseudoglioma syndrome.

PubMed ID: 16252235

DOI: 10.1086/497706

PubMed ID: 16679074

Title: A family with osteoporosis pseudoglioma syndrome due to compound heterozygosity of two novel mutations in the LRP5 gene.

PubMed ID: 16679074

DOI: 10.1016/j.bone.2006.02.069

PubMed ID: 18602879

Title: Osteoporosis-pseudoglioma syndrome: description of 9 new cases and beneficial response to bisphosphonates.

PubMed ID: 18602879

DOI: 10.1016/j.bone.2008.04.020

PubMed ID: 16929062

Title: Reduced bone mineral density and hyaloid vasculature remnants in a consanguineous recessive FEVR family with a mutation in LRP5.

PubMed ID: 16929062

DOI: 10.1136/bjo.2006.092114

PubMed ID: 11719191

Title: LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development.

PubMed ID: 11719191

DOI: 10.1016/s0092-8674(01)00571-2

PubMed ID: 25920554

Title: LRP5 variants may contribute to ADPKD.

PubMed ID: 25920554

DOI: 10.1038/ejhg.2015.86

PubMed ID: 27228167

Title: Whole Exome Sequencing Analysis Identifies Mutations in LRP5 in Indian Families with Familial Exudative Vitreoretinopathy.

PubMed ID: 27228167

DOI: 10.1089/gtmb.2015.0322

PubMed ID: 15981244

Title: Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes.

PubMed ID: 15981244

DOI: 10.1002/humu.20191

PubMed ID: 19177549

Title: A mutation in the signal sequence of LRP5 in a family with an osteoporosis-pseudoglioma syndrome (OPPG)-like phenotype indicates a novel disease mechanism for trinucleotide repeats.

PubMed ID: 19177549

DOI: 10.1002/humu.20916

PubMed ID: 20340138

Title: Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP.

PubMed ID: 20340138

DOI: 10.1002/humu.21250

PubMed ID: 19324841

Title: Clinical and molecular evaluation of probands and family members with familial exudative vitreoretinopathy.

PubMed ID: 19324841

DOI: 10.1167/iovs.08-3320

PubMed ID: 15824851

Title: Heterozygous mutations in the LDL receptor-related protein 5 (LRP5) gene are associated with primary osteoporosis in children.

PubMed ID: 15824851

DOI: 10.1359/jbmr.050101

PubMed ID: 15824861

Title: Oropharyngeal skeletal disease accompanying high bone mass and novel LRP5 mutation.

PubMed ID: 15824861

DOI: 10.1359/jbmr.041223

PubMed ID: 16234968

Title: Missense mutations in LRP5 are not a common cause of idiopathic osteoporosis in adult men.

PubMed ID: 16234968

DOI: 10.1359/jbmr.050705

PubMed ID: 17295608

Title: Novel LRP5 missense mutation in a patient with a high bone mass phenotype results in decreased DKK1-mediated inhibition of Wnt signaling.

PubMed ID: 17295608

DOI: 10.1359/jbmr.070211

PubMed ID: 14727154

Title: LRP5, low-density-lipoprotein-receptor-related protein 5, is a determinant for bone mineral density.

PubMed ID: 14727154

DOI: 10.1007/s10038-003-0111-6

PubMed ID: 24715757

Title: Identification of two novel LRP5 mutations in families with familial exudative vitreoretinopathy.

PubMed ID: 24715757

PubMed ID: 12015390

Title: High bone density due to a mutation in LDL-receptor-related protein 5.

PubMed ID: 12015390

DOI: 10.1056/nejmoa013444

PubMed ID: 17437160

Title: A novel mutation in the LRP5 gene is associated with osteoporosis-pseudoglioma syndrome.

PubMed ID: 17437160

DOI: 10.1007/s00198-007-0360-x

PubMed ID: 24706814

Title: Whole-exome sequencing reveals LRP5 mutations and canonical Wnt signaling associated with hepatic cystogenesis.

PubMed ID: 24706814

DOI: 10.1073/pnas.1309438111

PubMed ID: 28192794

Title: The Genetic Causes of Nonsyndromic Congenital Retinal Detachment: A Genetic and Phenotypic Study of Pakistani Families.

PubMed ID: 28192794

DOI: 10.1167/iovs.16-20281

PubMed ID: 28375157

Title: Isolated polycystic liver disease genes define effectors of polycystin-1 function.

PubMed ID: 28375157

DOI: 10.1172/jci90129

Sequence Information:

  • Length: 1615
  • Mass: 179145
  • Checksum: 8BA25D07F51E02CA
  • Sequence:
    • MEAAPPGPPW PLLLLLLLLL ALCGCPAPAA ASPLLLFANR RDVRLVDAGG VKLESTIVVS 
GLEDAAAVDF QFSKGAVYWT DVSEEAIKQT YLNQTGAAVQ NVVISGLVSP DGLACDWVGK 
KLYWTDSETN RIEVANLNGT SRKVLFWQDL DQPRAIALDP AHGYMYWTDW GETPRIERAG 
MDGSTRKIIV DSDIYWPNGL TIDLEEQKLY WADAKLSFIH RANLDGSFRQ KVVEGSLTHP 
FALTLSGDTL YWTDWQTRSI HACNKRTGGK RKEILSALYS PMDIQVLSQE RQPFFHTRCE 
EDNGGCSHLC LLSPSEPFYT CACPTGVQLQ DNGRTCKAGA EEVLLLARRT DLRRISLDTP 
DFTDIVLQVD DIRHAIAIDY DPLEGYVYWT DDEVRAIRRA YLDGSGAQTL VNTEINDPDG 
IAVDWVARNL YWTDTGTDRI EVTRLNGTSR KILVSEDLDE PRAIALHPVM GLMYWTDWGE 
NPKIECANLD GQERRVLVNA SLGWPNGLAL DLQEGKLYWG DAKTDKIEVI NVDGTKRRTL 
LEDKLPHIFG FTLLGDFIYW TDWQRRSIER VHKVKASRDV IIDQLPDLMG LKAVNVAKVV 
GTNPCADRNG GCSHLCFFTP HATRCGCPIG LELLSDMKTC IVPEAFLVFT SRAAIHRISL 
ETNNNDVAIP LTGVKEASAL DFDVSNNHIY WTDVSLKTIS RAFMNGSSVE HVVEFGLDYP 
EGMAVDWMGK NLYWADTGTN RIEVARLDGQ FRQVLVWRDL DNPRSLALDP TKGYIYWTEW 
GGKPRIVRAF MDGTNCMTLV DKVGRANDLT IDYADQRLYW TDLDTNMIES SNMLGQERVV 
IADDLPHPFG LTQYSDYIYW TDWNLHSIER ADKTSGRNRT LIQGHLDFVM DILVFHSSRQ 
DGLNDCMHNN GQCGQLCLAI PGGHRCGCAS HYTLDPSSRN CSPPTTFLLF SQKSAISRMI 
PDDQHSPDLI LPLHGLRNVK AIDYDPLDKF IYWVDGRQNI KRAKDDGTQP FVLTSLSQGQ 
NPDRQPHDLS IDIYSRTLFW TCEATNTINV HRLSGEAMGV VLRGDRDKPR AIVVNAERGY 
LYFTNMQDRA AKIERAALDG TEREVLFTTG LIRPVALVVD NTLGKLFWVD ADLKRIESCD 
LSGANRLTLE DANIVQPLGL TILGKHLYWI DRQQQMIERV EKTTGDKRTR IQGRVAHLTG 
IHAVEEVSLE EFSAHPCARD NGGCSHICIA KGDGTPRCSC PVHLVLLQNL LTCGEPPTCS 
PDQFACATGE IDCIPGAWRC DGFPECDDQS DEEGCPVCSA AQFPCARGQC VDLRLRCDGE 
ADCQDRSDEA DCDAICLPNQ FRCASGQCVL IKQQCDSFPD CIDGSDELMC EITKPPSDDS 
PAHSSAIGPV IGIILSLFVM GGVYFVCQRV VCQRYAGANG PFPHEYVSGT PHVPLNFIAP 
GGSQHGPFTG IACGKSMMSS VSLMGGRGGV PLYDRNHVTG ASSSSSSSTK ATLYPPILNP 
PPSPATDPSL YNMDMFYSSN IPATARPYRP YIIRGMAPPT TPCSTDVCDS DYSASRWKAS 
KYYLDLNSDS DPYPPPPTPH SQYLSAEDSC PPSPATERSY FHLFPPPPSP CTDSS

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.