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Aliases for LRP4 Gene

Aliases for LRP4 Gene

  • Low Density Lipoprotein Receptor-Related Protein 4 2 3
  • MEGF7 3 4 6
  • Multiple Epidermal Growth Factor-Like Domains 7 3 4
  • SOST2 3 6
  • LRP-4 3 4
  • LRP10 3 4
  • CLSS 3 6
  • Low-Density Lipoprotein Receptor-Related Protein 4 3
  • KIAA0816 4

External Ids for LRP4 Gene

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 (Low Density Lipoprotein 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 Signaling by GPCR and Disease. GO annotations related to this gene include calcium ion binding and receptor tyrosine kinase 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

Genomic Location for LRP4 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for LRP4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LRP4 Gene

Regulatory Elements 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; Evidence={ECO:0000305};

neXtProt entry for LRP4 Gene

Proteomics data for LRP4 Gene at MOPED

Post-translational modifications for LRP4 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys1753
  • Glycosylation at Asn264, Asn498, Asn719, Asn901, Asn1077, Asn1415, Asn1467, Thr1688, and Ser1689

Other Protein References for LRP4 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for LRP4 Gene

Domains for LRP4 Gene

Gene Families for LRP4 Gene

HGNC:
  • LDLR :Low density lipoprotein receptors

UniProtKB/Swiss-Prot:

LRP4_HUMAN
Domain:
  • Contains 3 EGF-like domains.:
    • O75096
  • Contains 8 LDL-receptor class A domains.:
    • O75096
Family:
  • Belongs to the LDLR family.:
    • O75096
Similarity:
  • Contains 20 LDL-receptor class B repeats.:
    • O75096
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:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 21471202
GO:0030971 receptor tyrosine kinase binding ISS --
GO:0034185 apolipoprotein binding IEA --
GO:0042803 protein homodimerization activity IEA --
genes like me logo Genes that share ontologies with LRP4: view
genes like me logo Genes that share phenotypes with LRP4: view

Animal Models for LRP4 Gene

MGI Knock Outs for LRP4:

miRNA for LRP4 Gene

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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 3
extracellular 2
chloroplast 1
cytosol 1
mitochondrion 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for LRP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane --
GO:0009986 cell surface ISS --
GO:0014069 postsynaptic density ISS --
GO:0016021 integral component of membrane IEA --
GO:0016600 colocalizes_with flotillin complex ISS --
genes like me logo Genes that share ontologies with LRP4: view

Pathways 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:0001822 kidney development IDA 20381006
GO:0001932 regulation of protein phosphorylation IEA --
GO:0001942 hair follicle development IEA --
GO:0006897 endocytosis IEA --
GO:0008104 protein localization --
genes like me logo Genes that share ontologies with LRP4: view

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 expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Brain - Caudate (basal ganglia) (4.8).

Integrated Proteomics: protein expression 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 expressions with LRP4: view

Orthologs for LRP4 Gene

This gene was present in the common ancestor of animals.

Orthologs for LRP4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LRP4 36
  • 99.67 (n)
  • 99.79 (a)
LRP4 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia LRP4 36
  • 91.53 (n)
  • 97.53 (a)
LRP4 37
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LRP4 36
  • 92.62 (n)
  • 97.84 (a)
LRP4 37
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Lrp4 36
  • 90.43 (n)
  • 96.85 (a)
Lrp4 16
Lrp4 37
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia LRP4 37
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LRP4 37
  • 94 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lrp4 36
  • 90.87 (n)
  • 96.64 (a)
chicken
(Gallus gallus)
Aves LRP4 36
  • 80.13 (n)
  • 90.02 (a)
LRP4 37
  • 89 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LRP4 37
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lrp4 36
  • 74.32 (n)
  • 81.02 (a)
zebrafish
(Danio rerio)
Actinopterygii CABZ01083440.1 37
  • 81 (a)
OneToOne
lrp4 36
  • 69.39 (n)
  • 74.38 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000037 36
  • 55.74 (n)
  • 48.45 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG8909 36
  • 52.24 (n)
  • 46.11 (a)
CG8909 37
  • 40 (a)
OneToOne
CG8909 38
  • 44 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 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

Selected 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 MAF
rs879720 -- 46,897,026(-) TGGGG(C/T)CCACC intron-variant
rs879721 -- 46,896,978(-) TGTAC(A/G)GCAGA synonymous-codon, reference
rs898603 -- 46,911,073(+) Attag(C/T)ttcca intron-variant
rs898604 -- 46,896,432(+) GATGA(A/G)ACTCA intron-variant
rs964551 -- 46,876,444(+) ACCCA(G/T)TGCGA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv310 CNV Insertion 18451855

Relevant External Links for LRP4 Gene

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

Disorders for LRP4 Gene

(2) OMIM Diseases for LRP4 Gene (604270)

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.
  • 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}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for LRP4 Gene

Relevant External Links for LRP4

Genetic Association Database (GAD)
LRP4
Human Genome Epidemiology (HuGE) Navigator
LRP4
genes like me logo Genes that share disorders with LRP4: view

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
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  3. New sequence variants associated with bone mineral density. (PMID: 19079262) Styrkarsdottir U. … Stefansson K. (Nat. Genet. 2009) 3 49
  4. Human chromosome 11 DNA sequence and analysis including novel gene identification. (PMID: 16554811) Taylor T.D. … Sakaki Y. (Nature 2006) 3 4
  5. LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome. (PMID: 20381006) Li Y. … Wollnik B. (Am. J. Hum. Genet. 2010) 3 4

Products for LRP4 Gene

Sources for LRP4 Gene

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