Low-density lipoprotein receptor-related protein 4

Low density lipoprotein receptor-related protein 4
Identifiers
Symbols	LRP4 ; CLSS; CMS17; LRP-4; LRP10; MEGF7; SOST2
External IDs	OMIM: 604270 MGI: 2442252 HomoloGene: 17964 GeneCards: LRP4 Gene
Gene ontology Molecular function • calcium ion binding • protein binding • Wnt-protein binding • receptor tyrosine kinase binding • apolipoprotein binding • protein homodimerization activity • Wnt-activated receptor activity • scaffold protein binding Cellular component • cell surface • postsynaptic density • integral component of membrane • flotillin complex • dendrite • neuromuscular junction • neuronal cell body • synaptic membrane Biological process • kidney development • regulation of protein phosphorylation • hair follicle development • endocytosis • proximal/distal pattern formation • extracellular matrix organization • negative regulation of ossification • BMP signaling pathway • odontogenesis of dentin-containing tooth • embryonic digit morphogenesis • Wnt signaling pathway involved in dorsal/ventral axis specification • dendrite morphogenesis • negative regulation of axonogenesis • synapse organization • synaptic growth at neuromuscular junction • protein heterotetramerization • canonical Wnt signaling pathway • limb development • skeletal muscle acetylcholine-gated channel clustering • negative regulation of canonical Wnt signaling pathway • postsynaptic membrane assembly • presynaptic membrane assembly • positive regulation of presynaptic membrane organization Sources: Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	4038	228357
Ensembl	ENSG00000134569	ENSMUSG00000027253
UniProt	O75096	Q8VI56
RefSeq (mRNA)	NM_002334	NM_001145857
RefSeq (protein)	NP_002325	NP_001139329
Location (UCSC)	Chr 11: 46.86 – 46.92 Mb	Chr 2: 91.46 – 91.51 Mb
PubMed search

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.^[1][2] 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.^[3]

References

1. "Entrez Gene: low density lipoprotein receptor-related protein 4".
2. Nakayama M, Nakajima D, Nagase T, Nomura N, Seki N, Ohara O (Jul 1998). "Identification of high-molecular-weight proteins with multiple EGF-like motifs by motif-trap screening". Genomics 51 (1): 27–34. doi:10.1006/geno.1998.5341. PMID 9693030.
3. 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.

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.
• 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.