LRP4 - LDL receptor related protein 4 Gene

Also Known as CLSS; CMS17; LRP-4; LRP10; MEGF7; SOST2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 4038

About LRP4

Cytogenetic location: 11p11.2 Genomic coordinates (GRCh38): 11:46,856,717-46,918,550 (from NCBI)

This gene has 5 transcripts (splice variants), 208 orthologues, 14 paralogues and is associated with 7 phenotypes. Broad expression in skin (RPKM 19.1), brain (RPKM 14.7) and 16 other tissues.

Summary

This gene encodes a member of the low-density lipoprotein receptor-related protein family. The encoded protein may be a regulator of Wnt signaling. Mutations in this gene are associated with Cenani-Lenz syndrome. [provided by RefSeq, May 2010]

LRP4 Products (1)

mRNA	Protein	Name
NM_002334.4	NP_002325.2	low-density lipoprotein receptor-related protein 4 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	21471202	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in amyloid-beta clearance by cellular catabolic process	IMP IMP: Inferred from mutant phenotype	18289866	GOA
involved in kidney development	IDA IDA: Inferred from direct assay	20381006	GOA
involved in limb development	IDA IDA: Inferred from direct assay	20381006	GOA
involved in negative regulation of canonical Wnt signaling pathway	IDA IDA: Inferred from direct assay	20093106	GOA
involved in negative regulation of canonical Wnt signaling pathway	IMP IMP: Inferred from mutant phenotype	20381006	GOA
involved in negative regulation of ossification	IMP IMP: Inferred from mutant phenotype	21471202	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cell surface	IDA IDA: Inferred from direct assay	20381006	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

LRP4 Protein Structure

Ldl_recept_a

cEGF

Ldl_recept_b

FXa_inhibition

Ldl_recept_b

FXa_inhibition

Ldl_recept_b

0
300
600
900
1200
1500
1800
1905 a.a.

Protein Preferred Names	Protein Names
low-density lipoprotein receptor-related protein 4	multiple epidermal growth factor-like domains 7

LRP4 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	LRP4	O75096	SOST	Homo sapiens	Q9BQB4	ELISA	21471202
Intra	LRP4	O75096	SOST	Homo sapiens	Q9BQB4	SPR	21471202

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Cenani-Lenz Syndactyly Syndrome	Syndactyly Type 7 Cenani Syndactylism Cenani-Lenz Syndactyly CLSS Syndactyly Cenani Lenz Type Cenani-Lenz Syndrome Syndactyly, Type Vii Cenani-Lenz Type Syndactyly Cenani Syndactyly Syndactyly Type Vii
Myasthenic Syndrome, Congenital, 17	CMS17 Congenital Myasthenic Syndrome 17 Myasthenic Syndrome, Congenital, Type 17
Sclerosteosis 2	SOST2 Sclerosteosis, Type 2
Sclerosteosis	Cortical Hyperostosis With Syndactyly Sost Cortical Hyperostosis-Syndactyly Syndrome
Postsynaptic Congenital Myasthenic Syndromes	Congenital Myasthenic Syndromes, Postsynaptic
Radioulnar Synostosis	Radio-Ulnar Synostosis Type 1
Mobitz Type Ii Atrioventricular Block	Mobitz Ii Atrioventricular Block Mobitz Ii Atrioventricular Block
Congenital Myasthenic Syndrome	Congenital Myasthenia Congenital Myasthenic Syndromes Cms Myasthenic Syndromes, Congenital Myasthenic Syndromes Congenital Myasthenic Syndrome, Congenital Congenital Myasthenic Syndrome Ib Congenital And Developmental Myasthenia Developmental Myasthenia
Neonatal Myasthenia Gravis	Myasthenia Gravis, Neonatal
Thymus Squamous Cell Carcinoma	Epidermoid Thymic Carcinoma Thymic Squamous Cell Carcinoma
Van Buchem Disease	Hyperostosis Corticalis Generalisata Hyperphosphatasemia Tarda VBCH Sost-Related Sclerosing Bone Dysplasia Endosteal Hyperostosis Autosomal Recessive Sclerosteosis Endosteal Hyperostosis, Autosomal Recessive Hyperotosis Corticalis Generalisata Familiaris Sost Sclerosing Bone Dysplasia Smith-Lemli-Opitz Syndrome
Myasthenia Gravis	MG Acquired Myasthenia Autoimmune Myasthenia Gravis Erb-Goldflam Disease Mg - [Myasthenia Gravis] Myasthenia Gravis Nos Myasthenia
Hyperostosis	Hypertrophy Of Bone Bone Hypertrophy Bone Thickening Periosteum Thickening
Synostosis
Chiari Malformation
Ptosis	Blepharoptosis Drooping Eyelid Droopy Eyelid Ptosis Of Eyelid Paralysis Of Levator Palpebrae Superioris
Sclerosteosis 1	SOST1 Sost Cortical Hyperostosis With Syndactyly Sclerosteosis Sclerosteosis, Type 1
Thymus Gland Disease	Disease Of Thymus Gland
Neuromuscular Junction Disease	Neuromuscular Junction Diseases
Thymus Cancer	Thymic Neoplasm Thymic Tumor Thymus Neoplasm Thymus Neoplasms Malignant Neoplasm Of Thymus Neoplasm Of Thymus Thymic Neoplasms Thymoma, Familial Thymic Carcinoma Thymoma, Type C Cancer Of Thymus Malignant Tumour Of Thymus Primary Malignant Neoplasm Of Thymus Thymic Glandular Cancer Thymus Gland Cancer
Internuclear Ophthalmoplegia	Ophthalmoplegia Internuclearis Bielschowsky-Lutz-Cogan Syndrome Ino - [Internuclear Ophthalmoplegia] Lhermitte Syndrome Mlf - [Medial Longitudinal Fasciculus] Syndrome Internuclear Paralysis
Congenital Ptosis	Congenital Blepharoptosis Congenital Eyelid Ptosis
Neuromuscular Disease	Neuromuscular Diseases Neuromuscular Disorders Neuromuscular Disorder
Chromosome 2q35 Duplication Syndrome	Syndactyly Syndactyly Type 1 Sdty1 Zygodactyly Syndactyly, Type I Sd1 Syndactyly, Type 1, With Or Without Craniosynostosis Symphalangism Non-Syndromic Syndactyly Symphalangy Webbing Of Digits Syndactyly, Type 1
Parkinson Disease, Late-Onset	Parkinson Disease Parkinson'S Disease PD PARK Parkinson Disease, Susceptibility To Late Onset Parkinson'S Disease Late Onset Parkinson Disease Paralysis Agitans Primary Parkinsonism Idiopathic Parkinson Disease Parkinson'S Parkinson Disease, Late-Onset, Susceptibility To Parkinson Disease, Age Of Onset, Modifier Lewy Body Parkinson Disease Idiopathic Parkinson'S Disease Pd - [Parkinson Disease] Parkinson Disease Nos Parkinson, Nos Primary Parkinson Disease

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03047	CORIN Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS07799	LRP4 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS17975	Corin Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19911	Lrp4 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26412	Lrp4 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	LRP4	VGNC	VGNC:68089
Canis familiaris	LRP4	VGNC	VGNC:42777
Macaca mulatta	LRP4	VGNC	VGNC:74445
Rattus norvegicus	LRP4	RGD	RGD:619731
Bos taurus	LRP4	VGNC	VGNC:30992
Mus musculus	LRP4	MGD	MGI:2442252
Others	LRP4	NCBI