Property Summary

NCBI Gene PubMed Count 28
Grant Count 41
R01 Count 30
Funding $2,824,891.43
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 0.000
oligodendroglioma 1.800 0.003
psoriasis -1.700 0.000
cutaneous lupus erythematosus -2.300 0.003
group 4 medulloblastoma -4.200 0.000
atypical teratoid / rhabdoid tumor -1.200 0.043
medulloblastoma, large-cell -3.100 0.001
non-small cell lung cancer 1.121 0.000
colon cancer 3.300 0.001
lung cancer 1.200 0.002
posterior fossa group A ependymoma -1.300 0.000
subependymal giant cell astrocytoma -1.407 0.012
Breast cancer -1.300 0.000
Down syndrome 1.400 0.002

 GWAS Trait (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
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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.
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