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LRP4 Gene

protein-coding   GIFtS: 63
GCID: GC11M049899

Low Density Lipoprotein Receptor-Related Protein 4

  See LRP4-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Low Density Lipoprotein Receptor-Related Protein 41 2     CLSS2 5
MEGF72 3 5     SOST22 5
Multiple Epidermal Growth Factor-Like Domains 72 3     Low-Density Lipoprotein Receptor-Related Protein 42
LRP-42 3     KIAA08163
LRP102 3     

External Ids:    HGNC: 66961   Entrez Gene: 40382   Ensembl: ENSG000001345697   OMIM: 6042705   UniProtKB: O750963   

Export aliases for LRP4 gene to outside databases

Previous GC identifers: GC11M048816 GC11M047756 GC11M046910 GC11M046842 GC11M046834 GC11M046584 GC11M046919 GC11M048070 GC11M048796


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 syndactyly cenani lenz type, and sclerosteosis 2. GO annotations related to this gene include receptor tyrosine kinase binding and calcium ion binding. An important paralog of this gene is LRP6.

UniProtKB/Swiss-Prot: LRP4_HUMAN, O75096
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 Wiki entry for LRP4 (Low density lipoprotein receptor-related protein 4) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000011.9  NT_009237.19  NC_018922.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the LRP4 gene promoter:
         AhR   AML1a   Olf-1   NF-E2 p45   NF-kappaB   FOXC1   NF-kappaB2   NF-E2   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidLRP4 promoter sequence
   Search Chromatin IP Primers for LRP4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat LRP4


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11p11.2   Ensembl cytogenetic band:  11p11.2   HGNC cytogenetic band: 11p11.2

LRP4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
LRP4 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M049899:  view genomic region     (about GC identifiers)

Start:
46,878,268 bp from pter      End:
46,940,193 bp from pter
Size:
61,926 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: LRP4_HUMAN, O75096 (See protein sequence)
Recommended Name: Low-density lipoprotein receptor-related protein 4 precursor  
Size: 1905 amino acids; 212045 Da
Subunit: 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
Sequence caution: Sequence=BAE19679.1; Type=Erroneous initiation;
Secondary accessions: B2RN39 Q4AC85 Q5KTZ5

Explore the universe of human proteins at neXtProt for LRP4: NX_O75096

Explore proteomics data for LRP4 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys1753
  • Glycosylation2 at Asn264, Asn498, Asn719, Asn901, Asn1077, Asn1415, Asn1467, Thr1688, Ser1689
  • Modification sites at PhosphoSitePlus

  • See LRP4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_002325.2  
    ENSEMBL proteins: 
     ENSP00000367888   ENSP00000434763  
    Reactome Protein details: O75096

    LRP4 Human Recombinant Protein Products:

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    antibodies-online antibodies for LRP4 (57 products) 

    LRP4 Assay Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    LDLR: Low density lipoprotein receptors

    Selected InterPro protein domains (see all 11):
     IPR002172 LDrepeatLR_classA_rpt
     IPR000033 LDLR_classB_rpt
     IPR001881 EGF-like_Ca-bd_dom
     IPR023415 LDLR_class-A_CS
     IPR000742 EG-like_dom

    Graphical View of Domain Structure for InterPro Entry O75096

    ProtoNet protein and cluster: O75096

    3 Blocks protein domains:
    IPB000152 Aspartic acid and asparagine hydroxylation site
    IPB001881 EGF-like calcium-binding
    IPB002172 Low density lipoprotein-receptor


    UniProtKB/Swiss-Prot: LRP4_HUMAN, O75096
    Similarity: Belongs to the LDLR family
    Similarity: Contains 3 EGF-like domains
    Similarity: Contains 8 LDL-receptor class A domains
    Similarity: Contains 20 LDL-receptor class B repeats


    Find genes that share domains with LRP4           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: LRP4_HUMAN, O75096
    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

         Genatlas biochemistry entry for LRP4:
    low density lipoprotein receptor-related protein 4,abundant in heart

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding IPI--
    GO:0030971receptor tyrosine kinase binding ISS--
    GO:0042803protein homodimerization activity IEA--
    GO:0097110scaffold protein binding ISS--
         
    Find genes that share ontologies with LRP4           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for LRP4:
     Decreased cilium length after   Decreased viability of wild-ty  Increased Salmonella enterica  

         13 MGI mutant phenotypes (inferred from 8 alleles(MGI details for Lrp4):
     behavior/neurological  craniofacial  embryogenesis  endocrine/exocrine gland  growth/size/body 
     homeostasis/metabolism  integument  limbs/digits/tail  mortality/aging  nervous system 
     renal/urinary system  respiratory system  skeleton 

    Find genes that share phenotypes with LRP4           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for LRP4: Lrp4tm2Her Lrp4tm1Her

       genOway: Develop your customized and physiologically relevant rodent model for LRP4

    miRNA
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    Block miRNA regulation of human, mouse, rat LRP4 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate LRP4 (see all 88):
    hsa-miR-140-5p hsa-miR-520e hsa-miR-193a-3p hsa-miR-3194-5p hsa-miR-106a hsa-miR-3653 hsa-miR-578 hsa-miR-519a
    SwitchGear 3'UTR luciferase reporter plasmidLRP4 3' UTR sequence
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    LRP4_HUMAN, O75096: Membrane; Single-pass type I membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane3
    extracellular2
    chloroplast1
    cytosol1
    mitochondrion1
    nucleus1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane ----
    GO:0009986cell surface ISS--
    GO:0014069postsynaptic density ISS--
    GO:0016021integral component of membrane IEA--
    GO:0016600colocalizes with flotillin complex ISS--

    Find genes that share ontologies with LRP4           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for LRP4 About    
    See pathways by source

    SuperPathContained pathways About
    1Degradation of the extracellular matrix
    Extracellular matrix organization0.34
    2ECM proteoglycans
    ECM proteoglycans


    Find genes that share SuperPaths with LRP4           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for LRP4
        ECM proteoglycans


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for LRP4
    Interactions:

        Search GeneGlobe Interaction Network for LRP4

    STRING Interaction Network Preview (showing 5 interactants - click image to see 14)

    Selected Interacting proteins for LRP4 (O750963 ENSP000003678884) via UniProtKB, MINT, STRING, and/or I2D (see all 15)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DFNB31Q9P2023, ENSP000003546234I2D: score=2 STRING: ENSP00000354623
    RANBP9Q96S593, ENSP000000116194I2D: score=1 STRING: ENSP00000011619
    SUMO1P631653, ENSP000003760764I2D: score=1 STRING: ENSP00000376076
    ARRB1P494073I2D: score=1 
    AGRNENSP000003686784STRING: ENSP00000368678
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 28):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001822kidney development IDA--
    GO:0001932regulation of protein phosphorylation IEA--
    GO:0001942hair follicle development IEA--
    GO:0006897endocytosis IEA--
    GO:0008104protein localization ----

    Find genes that share ontologies with LRP4           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for LRP4



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for LRP4 gene: 
    NM_002334.3  

    Unigene Cluster for LRP4:

    Low density lipoprotein receptor-related protein 4
    Hs.4930  [show with all ESTs]
    Unigene Representative Sequence: NM_002334
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000378623(uc001ndn.4 uc009ylh.2) ENST00000529604(uc001ndm.4)
    ENST00000527656 ENST00000529921 ENST00000534404
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate LRP4 (see all 88):
    hsa-miR-140-5p hsa-miR-520e hsa-miR-193a-3p hsa-miR-3194-5p hsa-miR-106a hsa-miR-3653 hsa-miR-578 hsa-miR-519a
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    Additional mRNA sequence: 

    AB011540.1 AB084910.1 AB231861.1 AK027175.1 BC037360.2 BC041048.2 BC136667.1 BC136668.1 

    7 DOTS entries:

    DT.216181  DT.100749490  DT.91745901  DT.95085403  DT.95258659  DT.120691619  DT.95085405 

    Selected AceView cDNA sequences (see all 131):

    BG912757 AA025065 BE168174 AA233744 BX955879 AI337541 CF454457 AI014576 
    BM664821 BF594027 BE048009 BG060049 AL599531 CB055180 AA626208 BM542427 
    AA325665 BQ021426 AK027175 BF981158 AW204084 AI360745 AA584297 AA233743 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    LRP4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGTAATGGTT
    LRP4 Expression
    About this image


    LRP4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 13) fully expand
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
     
     Epithelial Cells
             Primary Hair Placode Cells Hair Follicle
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Bone (Muscoskeletal System)
             Chondrocyte-like cells
    LRP4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    LRP4 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.4930

    UniProtKB/Swiss-Prot: LRP4_HUMAN, O75096
    Tissue specificity: Expressed in bone; present in osteoblasts and osteocytes. No expression is observed in
    osteoclast. Expressed in several regions of the brain

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LRP4

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for LRP4 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Lrp41 , 5 low density lipoprotein receptor-related protein 41, 5 90.43(n)1
    96.85(a)1
      2 (50.63 cM)5
    2283571  NM_172668.31  NP_766256.31 
     914575115 
    chicken
    (Gallus gallus)
    Aves LRP41 low density lipoprotein receptor-related protein 4 80.13(n)
    90.02(a)
      423189  XM_421114.4  XP_421114.4 
    lizard
    (Anolis carolinensis)
    Reptilia LRP46
    low density lipoprotein receptor-related protein 4...
    88(a)
    1 ↔ 1
    1(43262008-43394492)
    African clawed frog
    (Xenopus laevis)
    Amphibia BJ032302.12   -- 78.17(n)    BJ032302.1 
    zebrafish
    (Danio rerio)
    Actinopterygii lrp41 low density lipoprotein receptor-related protein 4 69.39(n)
    74.38(a)
      100331602  XM_005169067.1  XP_005169124.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG89091 , 3 low-density lipoprotein receptor3
    CG89091
    44(a)3
    52.24(n)1
    46.11(a)1
      14A13
    325521  NM_001169298.11  NP_001162769.11 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for LRP4 gene
    LRP62  LRP52  LRP22  LRP1B2  EGF2  LDLR2  LRP5L2  VLDLR2  
    NID12  NID22  LRP82  LRP12  
    13 SIMAP similar genes for LRP4 using alignment to 3 protein entries:     LRP4_HUMAN (see all proteins):
    LRP5L    HSPG2    LRP5    LRP6    VLDLR    CD320
    LRP8    LRP1B    LDLR    LRP2    LRP1    DIET1
    LDLRAD3

    Find genes that share paralogs with LRP4           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for LRP4 (see all 1441)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0637804
    Cenani-Lenz syndactyly syndrome (CLSS)4--see VAR_0637802 L F mis40--------
    VAR_0637794
    Cenani-Lenz syndactyly syndrome (CLSS)4--see VAR_0637792 T P mis40--------
    VAR_0666314
    Sclerosteosis 2 (SOST2)4--see VAR_0666312 W S mis40--------
    VAR_0637774
    Cenani-Lenz syndactyly syndrome (CLSS)4--see VAR_0637772 C Y mis40--------
    VAR_0637814
    Cenani-Lenz syndactyly syndrome (CLSS)4--see VAR_0637812 D N mis40--------
    VAR_0666304
    Sclerosteosis 2 (SOST2)4--see VAR_0666302 R W mis40--------
    VAR_0637764
    Cenani-Lenz syndactyly syndrome (CLSS)4--see VAR_0637762 D N mis40--------
    VAR_0637824
    Cenani-Lenz syndactyly syndrome (CLSS)4--see VAR_0637822 C R mis40--------
    VAR_0637784
    Cenani-Lenz syndactyly syndrome (CLSS)4--see VAR_0637782 D N mis40--------
    rs2676072211,2
    Cpathogenic146846748(-) AAGCTA/GCATTG 2 Y C mis10--------

    HapMap Linkage Disequilibrium report for LRP4 (46878268 - 46940193 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for LRP4:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv310CNV Insertion18451855

    Human Gene Mutation Database (HGMD): LRP4
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing LRP4
    DNA2.0 Custom Variant and Variant Library Synthesis for LRP4

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 604270   
    OMIM disorders: 212780  614305  
    UniProtKB/Swiss-Prot: LRP4_HUMAN, O75096
  • 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. 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.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 5 diseases for LRP4:    
    About MalaCards
    syndactyly cenani lenz type    sclerosteosis 2    sost-related sclerosing bone dysplasia    syndactyly
    myasthenic syndrome, congenital, with pre- and postsynaptic defects

    1 disease from the University of Copenhagen DISEASES database for LRP4:
    Myasthenia gravis

    Find genes that share disorders with LRP4           About GenesLikeMe

    Genetic Association Database (GAD): LRP4
    Human Genome Epidemiology (HuGE) Navigator: LRP4 (11 documents)

    Export disorders for LRP4 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for LRP4 gene, integrated from 10 sources (see all 34):
    (articles sorted by number of sources associating them with LRP4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of high-molecular-weight proteins with multiple EGF- like motifs by motif-trap screening. (PubMed id 9693030)1, 2, 3 Nakayama M.... Ohara O. (Genomics 1998)
    2. Genetic predictors of fibrin D-dimer levels in healthy adults. (PubMed id 21502573)1, 4 Smith N.L....Hayward C. (Circulation 2011)
    3. Bone overgrowth-associated mutations in the LRP4 gene impair sclerostin facilitator function. (PubMed id 21471202)1, 2 Leupin O.... Kneissel M. (J. Biol. Chem. 2011)
    4. LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome. (PubMed id 20381006)1, 2 Li Y.... Wollnik B. (Am. J. Hum. Genet. 2010)
    5. Analysis of recently identified osteoporosis susceptibility genes in Han Chinese women. (PubMed id 20554715)1, 4 Liu J.M....Ning G. (J. Clin. Endocrinol. Metab. 2010)
    6. New sequence variants associated with bone mineral density. (PubMed id 19079262)1, 4 Styrkarsdottir U....Stefansson K. (Nat. Genet. 2009)
    7. Human chromosome 11 DNA sequence and analysis including novel gene identification. (PubMed id 16554811)1, 2 Taylor T.D....Sakaki Y. (Nature 2006)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    9. A common LRP4 haplotype is associated with bone mineral density and hip geometry in men-data from the Odense Androgen Study (OAS). (PubMed id 23321396)1 Boudin E....Piters E. (Bone 2013)
    10. Cenani-Lenz syndrome restricted to limb and kidney anomalies associated with a novel LRP4 missense mutation. (PubMed id 23664847)1 Khan T.N....Dahl N. (Eur J Med Genet 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 4038 HGNC: 6696 AceView: LRP4 Ensembl:ENSG00000134569 euGenes: HUgn4038
    ECgene: LRP4 H-InvDB: LRP4

    (According to HUGE)
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    HUGE: KIAA0816

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for LRP4 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for LRP4 gene:
    Search GeneIP for patents involving LRP4

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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