Low-density lipoprotein receptor-related protein 4

LRP4
Identifiers
Aliases	LRP4, CLSS, LRP-4, LRP10, MEGF7, SOST2, CMS17, Low density lipoprotein receptor-related protein 4, LDL receptor related protein 4
External IDs	OMIM: 604270 MGI: 2442252 HomoloGene: 17964 GeneCards: LRP4
Gene location (Human) Chr. Chromosome 11 (human) Band 11p11.2 Start 46,856,717 bp End 46,918,642 bp
Gene location (Mouse) Chr. Chromosome 2 (mouse) Band 2 E1|2 50.63 cM Start 91,287,856 bp End 91,344,124 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in internal globus pallidus putamen caudate nucleus skin of abdomen inferior olivary nucleus nucleus accumbens amygdala Region I of hippocampus proper ganglionic eminence external globus pallidus Top expressed in Bowman's capsule body of femur left lung spermatogonium lip right lung lobe left lung lobe extraocular muscle urethra female urethra More reference expression data BioGPS n/a
Gene ontology Molecular function calcium ion binding apolipoprotein binding protein homodimerization activity scaffold protein binding receptor tyrosine kinase binding protein binding Wnt-protein binding Wnt-activated receptor activity Cellular component integral component of membrane synaptic membrane postsynaptic density membrane neuromuscular junction cell surface neuronal cell body flotillin complex dendrite receptor complex plasma membrane plasma membrane raft Biological process animal organ development hair follicle development regulation of protein phosphorylation protein localization proximal/distal pattern formation cell differentiation protein heterotetramerization endocytosis dendrite morphogenesis kidney development anatomical structure development synaptic assembly at neuromuscular junction regulation of canonical Wnt signaling pathway negative regulation of Wnt signaling pathway synapse organization embryonic digit morphogenesis Wnt signaling pathway receptor clustering BMP signaling pathway presynaptic membrane assembly limb development positive regulation of presynaptic membrane organization negative regulation of ossification multicellular organism development odontogenesis of dentin-containing tooth positive regulation of skeletal muscle acetylcholine-gated channel clustering negative regulation of axonogenesis postsynaptic membrane assembly embryonic limb morphogenesis skeletal muscle acetylcholine-gated channel clustering positive regulation of peptidyl-tyrosine phosphorylation dorsal/ventral pattern formation negative regulation of canonical Wnt signaling pathway Wnt signaling pathway involved in dorsal/ventral axis specification amyloid-beta clearance by cellular catabolic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 4038 228357 Ensembl ENSG00000134569 ENSMUSG00000027253 UniProt O75096 Q8VI56 RefSeq (mRNA) NM_002334 NM_001145857 NM_172668 RefSeq (protein) NP_002325 NP_001139329 NP_766256 Location (UCSC) Chr 11: 46.86 – 46.92 Mb Chr 2: 91.29 – 91.34 Mb PubMed search
Wikidata
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Low-density lipoprotein receptor-related protein 4 (LRP-4), also known as multiple epidermal growth factor-like domains 7 (MEGF7), is a protein that in humans is encoded by the LRP4 gene. LRP-4 is a member of the Lipoprotein receptor-related protein family and may be a regulator of Wnt signaling.

Clinical significance

Mutations in this gene are associated with Cenani Lenz syndactylism.

Autoantibodies against LRP4 have been connected to a small fraction of myasthenia gravis cases.

Further reading

• Nakayama M, Kikuno R, Ohara O (Nov 2002). "Protein-protein interactions between large proteins: two-hybrid screening using a functionally classified library composed of long cDNAs". Genome Research. 12 (11): 1773–84. doi:10.1101/gr.406902. PMC 187542. PMID 12421765.
• Jeong YH, Ishikawa K, Someya Y, Hosoda A, Yoshimi T, Yokoyama C, Kiryu-Seo S, Kang MJ, Tchibana T, Kiyama H, Fukumura T, Kim DH, Saeki S (Jan 2010). "Molecular characterization and expression of the low-density lipoprotein receptor-related protein-10, a new member of the LDLR gene family". Biochemical and Biophysical Research Communications. 391 (1): 1110–5. doi:10.1016/j.bbrc.2009.12.033. PMID 20005200.
• Simon-Chazottes D, Tutois S, Kuehn M, Evans M, Bourgade F, Cook S, Davisson MT, Guénet JL (May 2006). "Mutations in the gene encoding the low-density lipoprotein receptor LRP4 cause abnormal limb development in the mouse". Genomics. 87 (5): 673–7. doi:10.1016/j.ygeno.2006.01.007. PMID 16517118.
• Styrkarsdottir U, Halldorsson BV, Gretarsdottir S, Gudbjartsson DF, Walters GB, Ingvarsson T, Jonsdottir T, Saemundsdottir J, Snorradóttir S, Center JR, Nguyen TV, Alexandersen P, Gulcher JR, Eisman JA, Christiansen C, Sigurdsson G, Kong A, Thorsteinsdottir U, Stefansson K (Jan 2009). "New sequence variants associated with bone mineral density". Nature Genetics. 41 (1): 15–7. doi:10.1038/ng.284. PMID 19079262. S2CID 9876454.
• Li Y, Pawlik B, Elcioglu N, Aglan M, Kayserili H, Yigit G, Percin F, Goodman F, Nürnberg G, Cenani A, Urquhart J, Chung BD, Ismail S, Amr K, Aslanger AD, Becker C, Netzer C, Scambler P, Eyaid W, Hamamy H, Clayton-Smith J, Hennekam R, Nürnberg P, Herz J, Temtamy SA, Wollnik B (May 2010). "LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome". American Journal of Human Genetics. 86 (5): 696–706. doi:10.1016/j.ajhg.2010.03.004. PMC 2869043. PMID 20381006.
• Liu JM, Zhang MJ, Zhao L, Cui B, Li ZB, Zhao HY, Sun LH, Tao B, Li M, Ning G (Sep 2010). "Analysis of recently identified osteoporosis susceptibility genes in Han Chinese women". The Journal of Clinical Endocrinology and Metabolism. 95 (9): E112-20. doi:10.1210/jc.2009-2768. PMID 20554715.