U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

    LRP4 LDL receptor related protein 4 [ Homo sapiens (human) ]

    Gene ID: 4038, updated on 27-Nov-2024

    Summary

    Official Symbol
    LRP4provided by HGNC
    Official Full Name
    LDL receptor related protein 4provided by HGNC
    Primary source
    HGNC:HGNC:6696
    See related
    Ensembl:ENSG00000134569 MIM:604270; AllianceGenome:HGNC:6696
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CLSS; CMS17; LRP-4; LRP10; MEGF7; SOST2
    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]
    Expression
    Broad expression in skin (RPKM 19.1), brain (RPKM 14.7) and 16 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See LRP4 in Genome Data Viewer
    Location:
    11p11.2
    Exon count:
    41
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (46856717..46918550, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (47013618..47075418, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (46878268..46940101, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA SNORD67 Neighboring gene cytoskeleton associated protein 5 Neighboring gene small nucleolar RNA, C/D box 67 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:46847736-46848288 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:46848289-46848839 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:46865110-46866015 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr11:46867074-46867651 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3316 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4685 Neighboring gene LRP4 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:46917923-46918648 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:46927480-46928314 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:46928315-46929147 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:46938291-46939162 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3317 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3318 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3319 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr11:46940326-46940830 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:46941525-46942026 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:46942027-46942526 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:46946339-46946839 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4686 Neighboring gene centriolar satellite-associated tubulin polyglutamylase complex regulator 1 Neighboring gene uncharacterized LOC124902670 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3320 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:47029651-47030151 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:47054947-47055522 Neighboring gene ATPase Get3-like

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Cenani-Lenz syndactyly syndrome
    MedGen: C1859309 OMIM: 212780 GeneReviews: Not available
    Compare labs
    Congenital myasthenic syndrome 17 Compare labs
    Sclerosteosis 2
    MedGen: C3280402 OMIM: 614305 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Biological, clinical and population relevance of 95 loci for blood lipids.
    EBI GWAS Catalog
    Discovery and refinement of loci associated with lipid levels.
    EBI GWAS Catalog
    Genetic predictors of fibrin D-dimer levels in healthy adults.
    EBI GWAS Catalog
    New sequence variants associated with bone mineral density.
    EBI GWAS Catalog

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    HIV-1 infection (VSV-G pseudotyped) of CEMT4 T cells downregulates plasma membrane expression of LRP4 PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA0816

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables apolipoprotein binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables coreceptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein homodimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables receptor tyrosine kinase binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables scaffold protein binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    involved_in Wnt signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in amyloid-beta clearance by cellular catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in dendrite morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in dorsal/ventral pattern formation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in embryonic digit morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in endocytosis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in enzyme-linked receptor protein signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in generation of neurons IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in hair follicle development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in kidney development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in limb development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of axonogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of canonical Wnt signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of canonical Wnt signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of canonical Wnt signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of ossification IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in odontogenesis of dentin-containing tooth IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of Rac protein signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of peptidyl-tyrosine phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of presynaptic membrane organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of skeletal muscle acetylcholine-gated channel clustering IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in postsynaptic membrane assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in presynaptic membrane assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in proximal/distal pattern formation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of postsynapse assembly IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in skeletal muscle acetylcholine-gated channel clustering ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in synapse organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in synapse organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in synaptic assembly at neuromuscular junction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cell surface ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in dendrite ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in neuromuscular junction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in neuronal cell body ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in plasma membrane raft ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in postsynaptic density ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in synaptic membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_021394.2 RefSeqGene

      Range
      5000..66833
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_002334.4NP_002325.2  low-density lipoprotein receptor-related protein 4 precursor

      See identical proteins and their annotated locations for NP_002325.2

      Status: REVIEWED

      Source sequence(s)
      AC021573
      Consensus CDS
      CCDS31478.1
      UniProtKB/Swiss-Prot
      B2RN39, O75096, Q4AC85, Q5KTZ5
      Related
      ENSP00000367888.1, ENST00000378623.6
      Conserved Domains (9) summary
      smart00192
      Location:311343
      LDLa; Low-density lipoprotein receptor domain class A
      smart00135
      Location:505545
      LY; Low-density lipoprotein-receptor YWTD domain
      smart00179
      Location:395434
      EGF_CA; Calcium-binding EGF-like domain
      cd00112
      Location:270304
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
      cd05819
      Location:10851123
      NHL; NHL repeat [structural motif]
      pfam00057
      Location:70105
      Ldl_recept_a; Low-density lipoprotein receptor domain class A
      pfam00058
      Location:11791219
      Ldl_recept_b; Low-density lipoprotein receptor repeat class B
      pfam14670
      Location:13131348
      FXa_inhibition; Coagulation Factor Xa inhibitory site
      cl18310
      Location:10851277
      NHL; NHL repeat unit of beta-propeller proteins

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      46856717..46918550 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017017734.2XP_016873223.1  low-density lipoprotein receptor-related protein 4 isoform X1

    2. XM_011520103.3XP_011518405.1  low-density lipoprotein receptor-related protein 4 isoform X2

      Conserved Domains (8) summary
      smart00192
      Location:4375
      LDLa; Low-density lipoprotein receptor domain class A
      smart00135
      Location:237277
      LY; Low-density lipoprotein-receptor YWTD domain
      smart00179
      Location:127166
      EGF_CA; Calcium-binding EGF-like domain
      cd00112
      Location:236
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
      cd05819
      Location:817855
      NHL; NHL repeat [structural motif]
      pfam00058
      Location:911951
      Ldl_recept_b; Low-density lipoprotein receptor repeat class B
      pfam14670
      Location:10451080
      FXa_inhibition; Coagulation Factor Xa inhibitory site
      cl18310
      Location:8171009
      NHL; NHL repeat unit of beta-propeller proteins
    3. XM_011520104.3XP_011518406.1  low-density lipoprotein receptor-related protein 4 isoform X3

      Conserved Domains (5) summary
      smart00135
      Location:63105
      LY; Low-density lipoprotein-receptor YWTD domain
      cd05819
      Location:340378
      NHL; NHL repeat [structural motif]
      pfam00058
      Location:434474
      Ldl_recept_b; Low-density lipoprotein receptor repeat class B
      pfam14670
      Location:568603
      FXa_inhibition; Coagulation Factor Xa inhibitory site
      cl18310
      Location:340532
      NHL; NHL repeat unit of beta-propeller proteins

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      47013618..47075418 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054368782.1XP_054224757.1  low-density lipoprotein receptor-related protein 4 isoform X1

    2. XM_054368783.1XP_054224758.1  low-density lipoprotein receptor-related protein 4 isoform X2

    3. XM_054368784.1XP_054224759.1  low-density lipoprotein receptor-related protein 4 isoform X3