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Aliases for LRP4 Gene

Aliases for LRP4 Gene

  • LDL Receptor Related Protein 4 2 3 5
  • Low Density Lipoprotein Receptor-Related Protein 4 2 3
  • Multiple Epidermal Growth Factor-Like Domains 7 3 4
  • MEGF7 3 4
  • LRP-4 3 4
  • LRP10 3 4
  • KIAA0816 4
  • CMS17 3
  • SOST2 3
  • CLSS 3

External Ids for LRP4 Gene

Previous GeneCards Identifiers for LRP4 Gene

  • GC11M048816
  • GC11M047756
  • GC11M046910
  • GC11M046842
  • GC11M046834
  • GC11M046584
  • GC11M046919
  • GC11M048070
  • GC11M048796
  • GC11M049899
  • GC11M047088
  • GC11M047932

Summaries for LRP4 Gene

Entrez Gene Summary for LRP4 Gene

  • 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]

GeneCards Summary for LRP4 Gene

LRP4 (LDL Receptor Related Protein 4) is a Protein Coding gene. Diseases associated with LRP4 include cenani-lenz syndactyly syndrome and sclerosteosis 2. Among its related pathways are Degradation of the extracellular matrix and Signaling by GPCR. GO annotations related to this gene include calcium ion binding and scaffold protein binding. An important paralog of this gene is LRP1B.

UniProtKB/Swiss-Prot for LRP4 Gene

  • Mediates SOST-dependent inhibition of bone formation. Functions as a specific facilitator of SOST-mediated inhibition of Wnt signaling. Plays a key role in the formation and the maintenance of the neuromuscular junction (NMJ), the synapse between motor neuron and skeletal muscle. Directly binds AGRIN and recruits it to the MUSK signaling complex. Mediates the AGRIN-induced phosphorylation of MUSK, the kinase of the complex. The activation of MUSK in myotubes induces the formation of NMJ by regulating different processes including the transcription of specific genes and the clustering of AChR in the postsynaptic membrane. Alternatively, may be involved in the negative regulation of the canonical Wnt signaling pathway, being able to antagonize the LRP6-mediated activation of this pathway. More generally, has been proposed to function as a cell surface endocytic receptor binding and internalizing extracellular ligands for degradation by lysosomes.

Gene Wiki entry for LRP4 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LRP4 Gene

Genomics for LRP4 Gene

Regulatory Elements for LRP4 Gene

Promoters for LRP4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around LRP4 on UCSC Golden Path with GeneCards custom track

Genomic Location for LRP4 Gene

Chromosome:
11
Start:
46,856,717 bp from pter
End:
46,918,642 bp from pter
Size:
61,926 bases
Orientation:
Minus strand

Genomic View for LRP4 Gene

Genes around LRP4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LRP4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LRP4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LRP4 Gene

Proteins for LRP4 Gene

  • Protein details for LRP4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75096-LRP4_HUMAN
    Recommended name:
    Low-density lipoprotein receptor-related protein 4
    Protein Accession:
    O75096
    Secondary Accessions:
    • B2RN39
    • Q4AC85
    • Q5KTZ5

    Protein attributes for LRP4 Gene

    Size:
    1905 amino acids
    Molecular mass:
    212045 Da
    Quaternary structure:
    • Homooligomer. Interacts with MUSK; the heterodimer forms an AGRIN receptor complex that binds AGRIN resulting in activation of MUSK (By similarity). Interacts (via the extracellular domain) with SOST; the interaction facilitates the inhibition of Wnt signaling.
    SequenceCaution:
    • Sequence=BAE19679.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

neXtProt entry for LRP4 Gene

Proteomics data for LRP4 Gene at MOPED

Post-translational modifications for LRP4 Gene

  • Ubiquitination at Lys 1753
  • Glycosylation at Asn 264, Asn 498, Asn 719, Asn 901, Asn 1077, Asn 1415, Asn 1467, and Thr 1688
  • Modification sites at PhosphoSitePlus

Other Protein References for LRP4 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for LRP4

No data available for DME Specific Peptides for LRP4 Gene

Domains & Families for LRP4 Gene

Gene Families for LRP4 Gene

Suggested Antigen Peptide Sequences for LRP4 Gene

Graphical View of Domain Structure for InterPro Entry

O75096

UniProtKB/Swiss-Prot:

LRP4_HUMAN :
  • Contains 3 EGF-like domains.
  • Belongs to the LDLR family.
  • Contains 20 LDL-receptor class B repeats.
Domain:
  • Contains 3 EGF-like domains.
  • Contains 8 LDL-receptor class A domains.
Family:
  • Belongs to the LDLR family.
Similarity:
  • Contains 20 LDL-receptor class B repeats.
genes like me logo Genes that share domains with LRP4: view

Function for LRP4 Gene

Molecular function for LRP4 Gene

GENATLAS Biochemistry:
low density lipoprotein receptor-related protein 4,abundant in heart
UniProtKB/Swiss-Prot Function:
Mediates SOST-dependent inhibition of bone formation. Functions as a specific facilitator of SOST-mediated inhibition of Wnt signaling. Plays a key role in the formation and the maintenance of the neuromuscular junction (NMJ), the synapse between motor neuron and skeletal muscle. Directly binds AGRIN and recruits it to the MUSK signaling complex. Mediates the AGRIN-induced phosphorylation of MUSK, the kinase of the complex. The activation of MUSK in myotubes induces the formation of NMJ by regulating different processes including the transcription of specific genes and the clustering of AChR in the postsynaptic membrane. Alternatively, may be involved in the negative regulation of the canonical Wnt signaling pathway, being able to antagonize the LRP6-mediated activation of this pathway. More generally, has been proposed to function as a cell surface endocytic receptor binding and internalizing extracellular ligands for degradation by lysosomes.

Gene Ontology (GO) - Molecular Function for LRP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0034185 apolipoprotein binding IEA --
GO:0097110 scaffold protein binding IEA,ISS --
genes like me logo Genes that share ontologies with LRP4: view
genes like me logo Genes that share phenotypes with LRP4: view

Human Phenotype Ontology for LRP4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for LRP4 Gene

MGI Knock Outs for LRP4:

Animal Model Products

miRNA for LRP4 Gene

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for LRP4 Gene

Localization for LRP4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LRP4 Gene

Membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for LRP4 Gene COMPARTMENTS Subcellular localization image for LRP4 gene
Compartment Confidence
plasma membrane 5
cytosol 2
extracellular 2
mitochondrion 2
nucleus 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for LRP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0014069 postsynaptic density IEA,ISS --
GO:0030425 dendrite IEA,ISS --
genes like me logo Genes that share ontologies with LRP4: view

Pathways & Interactions for LRP4 Gene

genes like me logo Genes that share pathways with LRP4: view

Gene Ontology (GO) - Biological Process for LRP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001942 hair follicle development IEA --
GO:0006897 endocytosis IEA --
GO:0009953 dorsal/ventral pattern formation IEA --
GO:0009954 proximal/distal pattern formation IEA --
GO:0016055 Wnt signaling pathway IEA --
genes like me logo Genes that share ontologies with LRP4: view

No data available for SIGNOR curated interactions for LRP4 Gene

Drugs & Compounds for LRP4 Gene

No Compound Related Data Available

Transcripts for LRP4 Gene

Unigene Clusters for LRP4 Gene

Low density lipoprotein receptor-related protein 4:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for LRP4 Gene

No ASD Table

Relevant External Links for LRP4 Gene

GeneLoc Exon Structure for
LRP4
ECgene alternative splicing isoforms for
LRP4

Expression for LRP4 Gene

mRNA expression in normal human tissues for LRP4 Gene

mRNA differential expression in normal tissues according to GTEx for LRP4 Gene

This gene is overexpressed in Brain - Caudate (basal ganglia) (x4.8).

Protein differential expression in normal tissues from HIPED for LRP4 Gene

This gene is overexpressed in Plasma (57.4) and Heart (9.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for LRP4 Gene



SOURCE GeneReport for Unigene cluster for LRP4 Gene Hs.4930

mRNA Expression by UniProt/SwissProt for LRP4 Gene

O75096-LRP4_HUMAN
Tissue specificity: Expressed in bone; present in osteoblasts and osteocytes. No expression is observed in osteoclast. Expressed in several regions of the brain.
genes like me logo Genes that share expression patterns with LRP4: view

Protein tissue co-expression partners for LRP4 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for LRP4 Gene

Orthologs for LRP4 Gene

This gene was present in the common ancestor of animals.

Orthologs for LRP4 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia LRP4 35
  • 91.53 (n)
  • 97.53 (a)
LRP4 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LRP4 35
  • 92.62 (n)
  • 97.84 (a)
LRP4 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Lrp4 35
  • 90.43 (n)
  • 96.85 (a)
Lrp4 16
Lrp4 36
  • 97 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia LRP4 35
  • 99.67 (n)
  • 99.79 (a)
LRP4 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lrp4 35
  • 90.87 (n)
  • 96.64 (a)
oppossum
(Monodelphis domestica)
Mammalia LRP4 36
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LRP4 36
  • 94 (a)
OneToOne
chicken
(Gallus gallus)
Aves LRP4 35
  • 80.13 (n)
  • 90.02 (a)
LRP4 36
  • 89 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LRP4 36
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lrp4 35
  • 74.32 (n)
  • 81.02 (a)
zebrafish
(Danio rerio)
Actinopterygii lrp4 35
  • 69.39 (n)
  • 74.38 (a)
CABZ01083440.1 36
  • 81 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG8909 37
  • 44 (a)
CG8909 35
  • 52.24 (n)
  • 46.11 (a)
CG8909 36
  • 40 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000037 35
  • 55.74 (n)
  • 48.45 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 55 (a)
OneToOne
Species with no ortholog for LRP4:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for LRP4 Gene

ENSEMBL:
Gene Tree for LRP4 (if available)
TreeFam:
Gene Tree for LRP4 (if available)

Paralogs for LRP4 Gene

Paralogs for LRP4 Gene

(13) SIMAP similar genes for LRP4 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with LRP4: view

Variants for LRP4 Gene

Sequence variations from dbSNP and Humsavar for LRP4 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs6485702 - 46,877,220(+) TCCAA(C/T)GGCAA reference, missense
VAR_057956 -
VAR_057957 -
rs7926667 - 46,896,317(+) GGTCC(A/G)AGGCA reference, missense
rs2306033 - 46,875,895(+) GCACC(A/G)CGCGG reference, missense

Structural Variations from Database of Genomic Variants (DGV) for LRP4 Gene

Variant ID Type Subtype PubMed ID
nsv310 CNV Insertion 18451855

Variation tolerance for LRP4 Gene

Residual Variation Intolerance Score: 0.982% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 21.64; 99.31% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for LRP4 Gene

HapMap Linkage Disequilibrium report
LRP4
Human Gene Mutation Database (HGMD)
LRP4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LRP4 Gene

Disorders for LRP4 Gene

MalaCards: The human disease database

(18) MalaCards diseases for LRP4 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
cenani-lenz syndactyly syndrome
  • syndactyly cenani lenz type
sclerosteosis 2
  • sost2
myasthenic syndrome, congenital, 17
  • cms17
sclerosteosis
  • cortical hyperostosis with syndactyly
postsynaptic congenital myasthenic syndromes
  • congenital myasthenic syndromes, postsynaptic
- elite association - COSMIC cancer census association via MalaCards
Search LRP4 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

LRP4_HUMAN
  • Cenani-Lenz syndactyly syndrome (CLSS) [MIM:212780]: A congenital malformation syndrome defined as complete and complex syndactyly of the hands combined with malformations of the forearm bones and similar manifestations in the lower limbs. It is characterized by fusion and disorganization of metacarpal and phalangeal bones, radius and ulnar shortening, radioulnar synostosis, and severe syndactyly of hands and feet. {ECO:0000269 PubMed:20381006}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Myasthenic syndrome, congenital, 17 (CMS17) [MIM:616304]: A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. {ECO:0000269 PubMed:24234652}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Sclerosteosis 2 (SOST2) [MIM:614305]: A sclerosing bone dysplasia characterized by a generalized hyperostosis and sclerosis leading to a markedly thickened skull, with mandible, ribs, clavicles and all long bones also being affected. Due to narrowing of the foramina of the cranial nerves, facial nerve palsy, hearing loss and atrophy of the optic nerves can occur. Sclerosteosis is clinically and radiologically very similar to van Buchem disease, mainly differentiated by hand malformations and a large stature in sclerosteosis patients. {ECO:0000269 PubMed:21471202, ECO:0000269 PubMed:24234652}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for LRP4

Genetic Association Database (GAD)
LRP4
Human Genome Epidemiology (HuGE) Navigator
LRP4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LRP4
genes like me logo Genes that share disorders with LRP4: view

No data available for Genatlas for LRP4 Gene

Publications for LRP4 Gene

  1. Identification of high-molecular-weight proteins with multiple EGF- like motifs by motif-trap screening. (PMID: 9693030) Nakayama M. … Ohara O. (Genomics 1998) 2 3 4 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. LRP4 third I^-propeller domain mutations cause novel congenital myasthenia by compromising agrin-mediated MuSK signaling in a position-specific manner. (PMID: 24234652) Ohkawara B. … Ohno K. (Hum. Mol. Genet. 2014) 3
  4. Diagnostic and clinical classification of autoimmune myasthenia gravis. (PMID: 24530233) Berrih-Aknin S. … Eymard B. (J. Autoimmun. 2014) 3
  5. Truncating mutations in LRP4 lead to a prenatal lethal form of Cenani-Lenz syndrome. (PMID: 24924585) Lindy A.S. … Friez M.J. (Am. J. Med. Genet. A 2014) 3

Products for LRP4 Gene

Sources for LRP4 Gene

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