Low-density lipoprotein receptor-related protein 4

Protein-coding gene in the species Homo sapiens

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]

Band	11p11.2	Start	46,856,717 bp^[1]
Band	11p11.2	End	46,918,642 bp^[1]

Gene location (Mouse)

Chr.	Chromosome 2 (mouse)^[2]

Band	2 E1\|2 50.63 cM	Start	91,287,856 bp^[2]
Band	2 E1\|2 50.63 cM	End	91,344,124 bp^[2]

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

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

^[3]

^[4]

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

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000134569 – Ensembl, May 2017
^ ^a ^b ^c 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.