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)[1]
End	46,918,642 bp[1]
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)[2]
End	91,344,124 bp[2]
RNA expression pattern
	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
	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
	4038
	228357
	ENSG00000134569
	ENSMUSG00000027253
	O75096
	Q8VI56
	NM_002334
	NM_001145857; NM_172668
	NP_002325
	NP_001139329; NP_766256
	Wikidata
View/Edit Human	View/Edit Mouse

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.[5][6] 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.[7]

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

References

GRCh38: Ensembl release 89: ENSG00000134569 - Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000027253 - Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Entrez Gene: low density lipoprotein receptor-related protein 4".
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.
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.

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.

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[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000134569 - Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000027253 - Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] "Entrez Gene: low density lipoprotein receptor-related protein 4".

[pmid9693030-6] 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.

[pmid20381006-7] 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.

Lipids: lipoprotein particle metabolism
Lipoprotein particle classes and subclasses	delivery of TGs: Chylomicron VLDL delivery of C and CE: IDL LDL lb LDL sd LDL Lp(a) HDL Remnant cholesterol
Apolipoproteins	APOA 1 2 4 5 APOB APOC 1 2 3 4 APOD APOE APOH SAA SAA1
Extracellular enzymes	LCAT LIPC LPL
Lipid transfer proteins	CETP MTTP PLTP
Cell surface receptors	HDL: SCARB1 IDL: LRP LRP1 LRP1B LRP2 LRP3 LRP4 LRP5 LRP5L LRP6 LRP8 LRP10 LRP11 LRP12 LDL: LDLR LRPAP1
ATP-binding cassette transporter	ABCA1 ABCG5 ABCG8

Low-density lipoprotein receptor-related protein 4

Clinical significance

References

Further reading