Property Summary

NCBI Gene PubMed Count 28
PubMed Score 105.17
PubTator Score 75.81

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (14)

Disease log2 FC p
malignant mesothelioma 2.100 2.7e-06
oligodendroglioma 1.800 2.5e-03
psoriasis -1.700 1.1e-06
cutaneous lupus erythematosus -2.300 2.8e-03
group 4 medulloblastoma -4.200 1.0e-10
atypical teratoid / rhabdoid tumor -1.200 4.3e-02
medulloblastoma, large-cell -3.100 1.4e-03
non-small cell lung cancer 1.121 1.6e-06
colon cancer 3.300 6.5e-04
lung cancer 1.200 1.9e-03
posterior fossa group A ependymoma -1.300 4.6e-04
subependymal giant cell astrocytoma -1.407 1.2e-02
Breast cancer -1.300 3.5e-05
Down syndrome 1.400 1.6e-03

 GWAS Trait (1)

Protein-protein Interaction (1)

Gene RIF (15)

PMID Text
25319686 LRP4 is essential for maintaining the structural and functional activity of the neuromuscular junction.
24924585 study presents 2 sibling fetuses with a prenatal lethal presentation of mesomelic limb reductions, oligosyndactyly, genitourinary malformation and compound heterozygosity for 2 novel truncating mutations in LRP4
24530233 [review] Autoantibodies against LRP4 differentially alter neuromuscular transmission, demonstrating how myasthenia gravis can be classified according to the profile of the antibodies; management of myasthenia gravis patients can be adapted accordingly.
24297891 pathogenic IgG4 antibodies to MuSK bind to a structural epitope in the first Ig-like domain of MuSK, prevent binding between MuSK and Lrp4, and inhibit Agrin-stimulated MuSK phosphorylation.
24244707 MuSK myasthenia gravis IgG4 disrupts the interaction of LRP4 with MuSK but both IgG4 and IgG1-3 can disperse preformed agrin-independent AChR clusters
24234652 LRP4 is a new CMS disease gene and the 3rd beta propeller domain of LRP4 mediates two signaling pathways in a position-specific manner.
23664847 Cenani-Lenz syndrome in a large Pakistani pedigree is associated with a novel LRP4 missense mutation.
23321396 Data conclude that common variation in the LRP4 gene determines hip and whole body BMD
22794264 The roles of LRP4 in muscle fibers and motoneurons in neuromuscular junction formation have been dissected by cell-specific mutation.
21969364 Lrp4 is a cis-acting ligand for MuSK
21645651 Data suggest that LRP4 and interaction between LRP4 and genes in the Wnt and BMP signaling pathways modulate bone phenotypes including peak bone mass and fracture, the clinical endpoint of osteoporosis.
21471202 the interaction of sclerostin with LRP4 is required to mediate the inhibitory function of sclerostin on bone formation, thus identifying a novel role for LRP4 in bone.
20554715 Observational study of gene-disease association. (HuGE Navigator)
20005200 The present studies suggest that LRP10 may play a significant role in the brain physiology other than lipoprotein metabolism.
19079262 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)

AA Sequence

MRRQWGALLLGALLCAHGLASSPECACGRSHFTCAVSALGECTCIPAQWQCDGDNDCGDHSDEDGCILPT      1 - 70
CSPLDFHCDNGKCIRRSWVCDGDNDCEDDSDEQDCPPRECEEDEFPCQNGYCIRSLWHCDGDNDCGDNSD     71 - 140
EQCDMRKCSDKEFRCSDGSCIAEHWYCDGDTDCKDGSDEENCPSAVPAPPCNLEEFQCAYGRCILDIYHC    141 - 210
DGDDDCGDWSDESDCSSHQPCRSGEFMCDSGLCINAGWRCDGDADCDDQSDERNCTTSMCTAEQFRCHSG    211 - 280
RCVRLSWRCDGEDDCADNSDEENCENTGSPQCALDQFLCWNGRCIGQRKLCNGVNDCGDNSDESPQQNCR    281 - 350
PRTGEENCNVNNGGCAQKCQMVRGAVQCTCHTGYRLTEDGHTCQDVNECAEEGYCSQGCTNSEGAFQCWC    351 - 420
ETGYELRPDRRSCKALGPEPVLLFANRIDIRQVLPHRSEYTLLLNNLENAIALDFHHRRELVFWSDVTLD    421 - 490
RILRANLNGSNVEEVVSTGLESPGGLAVDWVHDKLYWTDSGTSRIEVANLDGAHRKVLLWQNLEKPRAIA    491 - 560
LHPMEGTIYWTDWGNTPRIEASSMDGSGRRIIADTHLFWPNGLTIDYAGRRMYWVDAKHHVIERANLDGS    561 - 630
HRKAVISQGLPHPFAITVFEDSLYWTDWHTKSINSANKFTGKNQEIIRNKLHFPMDIHTLHPQRQPAGKN    631 - 700
RCGDNNGGCTHLCLPSGQNYTCACPTGFRKISSHACAQSLDKFLLFARRMDIRRISFDTEDLSDDVIPLA    701 - 770
DVRSAVALDWDSRDDHVYWTDVSTDTISRAKWDGTGQEVVVDTSLESPAGLAIDWVTNKLYWTDAGTDRI    771 - 840
EVANTDGSMRTVLIWENLDRPRDIVVEPMGGYMYWTDWGASPKIERAGMDASGRQVIISSNLTWPNGLAI    841 - 910
DYGSQRLYWADAGMKTIEFAGLDGSKRKVLIGSQLPHPFGLTLYGERIYWTDWQTKSIQSADRLTGLDRE    911 - 980
TLQENLENLMDIHVFHRRRPPVSTPCAMENGGCSHLCLRSPNPSGFSCTCPTGINLLSDGKTCSPGMNSF    981 - 1050
LIFARRIDIRMVSLDIPYFADVVVPINITMKNTIAIGVDPQEGKVYWSDSTLHRISRANLDGSQHEDIIT   1051 - 1120
TGLQTTDGLAVDAIGRKVYWTDTGTNRIEVGNLDGSMRKVLVWQNLDSPRAIVLYHEMGFMYWTDWGENA   1121 - 1190
KLERSGMDGSDRAVLINNNLGWPNGLTVDKASSQLLWADAHTERIEAADLNGANRHTLVSPVQHPYGLTL   1191 - 1260
LDSYIYWTDWQTRSIHRADKGTGSNVILVRSNLPGLMDMQAVDRAQPLGFNKCGSRNGGCSHLCLPRPSG   1261 - 1330
FSCACPTGIQLKGDGKTCDPSPETYLLFSSRGSIRRISLDTSDHTDVHVPVPELNNVISLDYDSVDGKVY   1331 - 1400
YTDVFLDVIRRADLNGSNMETVIGRGLKTTDGLAVDWVARNLYWTDTGRNTIEASRLDGSCRKVLINNSL   1401 - 1470
DEPRAIAVFPRKGYLFWTDWGHIAKIERANLDGSERKVLINTDLGWPNGLTLDYDTRRIYWVDAHLDRIE   1471 - 1540
SADLNGKLRQVLVSHVSHPFALTQQDRWIYWTDWQTKSIQRVDKYSGRNKETVLANVEGLMDIIVVSPQR   1541 - 1610
QTGTNACGVNNGGCTHLCFARASDFVCACPDEPDSRPCSLVPGLVPPAPRATGMSEKSPVLPNTPPTTLY   1611 - 1680
SSTTRTRTSLEEVEGRCSERDARLGLCARSNDAVPAAPGEGLHISYAIGGLLSILLILVVIAALMLYRHK   1681 - 1750
KSKFTDPGMGNLTYSNPSYRTSTQEVKIEAIPKPAMYNQLCYKKEGGPDHNYTKEKIKIVEGICLLSGDD   1751 - 1820
AEWDDLKQLRSSRGGLLRDHVCMKTDTVSIQASSGSLDDTETEQLLQEEQSECSSVHTAATPERRGSLPD   1821 - 1890
TGWKHERKLSSESQV                                                          1891 - 1905
//

Text Mined References (27)

PMID Year Title
25319686 2014 LRP4 is critical for neuromuscular junction maintenance.
24924585 2014 Truncating mutations in LRP4 lead to a prenatal lethal form of Cenani-Lenz syndrome.
24530233 Diagnostic and clinical classification of autoimmune myasthenia gravis.
24297891 2013 MuSK IgG4 autoantibodies cause myasthenia gravis by inhibiting binding between MuSK and Lrp4.
24244707 2013 MuSK myasthenia gravis IgG4 disrupts the interaction of LRP4 with MuSK but both IgG4 and IgG1-3 can disperse preformed agrin-independent AChR clusters.
24234652 2014 LRP4 third ?-propeller domain mutations cause novel congenital myasthenia by compromising agrin-mediated MuSK signaling in a position-specific manner.
24097068 2013 Discovery and refinement of loci associated with lipid levels.
23664847 2013 Cenani-Lenz syndrome restricted to limb and kidney anomalies associated with a novel LRP4 missense mutation.
23321396 2013 A common LRP4 haplotype is associated with bone mineral density and hip geometry in men-data from the Odense Androgen Study (OAS).
22794264 2012 Distinct roles of muscle and motoneuron LRP4 in neuromuscular junction formation.
21969364 2011 Agrin binds to the N-terminal region of Lrp4 protein and stimulates association between Lrp4 and the first immunoglobulin-like domain in muscle-specific kinase (MuSK).
21645651 2011 LRP4 association to bone properties and fracture and interaction with genes in the Wnt- and BMP signaling pathways.
21502573 2011 Genetic predictors of fibrin D-dimer levels in healthy adults.
21471202 2011 Bone overgrowth-associated mutations in the LRP4 gene impair sclerostin facilitator function.
20686565 2010 Biological, clinical and population relevance of 95 loci for blood lipids.
20554715 2010 Analysis of recently identified osteoporosis susceptibility genes in Han Chinese women.
20381006 2010 LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome.
20093106 2010 The low-density lipoprotein receptor-related protein 10 is a negative regulator of the canonical Wnt/beta-catenin signaling pathway.
20005200 2010 Molecular characterization and expression of the low-density lipoprotein receptor-related protein-10, a new member of the LDLR gene family.
19079262 2009 New sequence variants associated with bone mineral density.
16554811 2006 Human chromosome 11 DNA sequence and analysis including novel gene identification.
16517118 2006 Mutations in the gene encoding the low-density lipoprotein receptor LRP4 cause abnormal limb development in the mouse.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12421765 2002 Protein-protein interactions between large proteins: two-hybrid screening using a functionally classified library composed of long cDNAs.
9693030 1998 Identification of high-molecular-weight proteins with multiple EGF-like motifs by motif-trap screening.