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

Gene ID: 4038, updated on 24-Nov-2020

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
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

Genomic context

See LRP4 in Genome Data Viewer
Location:
11p11.2
Exon count:
41
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (46854715..46918550, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (46878268..46940173, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene microRNA 5582 Neighboring gene cytoskeleton associated protein 5 Neighboring gene small nucleolar RNA, C/D box 67 Neighboring gene LRP4 antisense RNA 1 Neighboring gene chromosome 11 open reading frame 49 Neighboring gene ATPase Asna1 pseudogene Neighboring gene uncharacterized LOC107984329

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
Biological, clinical and population relevance of 95 loci for blood lipids.
GeneReviews: Not available
Cenani-Lenz syndactyly syndrome
MedGen: C1859309 OMIM: 212780 GeneReviews: Not available
Compare labs
Discovery and refinement of loci associated with lipid levels.
GeneReviews: Not available
Genetic predictors of fibrin D-dimer levels in healthy adults.
GeneReviews: Not available
Myasthenic syndrome, congenital, 17 Compare labs
New sequence variants associated with bone mineral density.
GeneReviews: Not available
Sclerosteosis 2
MedGen: C3280402 OMIM: 614305 GeneReviews: Not available
Compare labs

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

Homology

Clone Names

  • KIAA0816

Gene Ontology Provided by GOA

Function Evidence Code Pubs
apolipoprotein binding IEA
Inferred from Electronic Annotation
more info
 
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IEA
Inferred from Electronic Annotation
more info
 
receptor tyrosine kinase binding ISS
Inferred from Sequence or Structural Similarity
more info
 
scaffold protein binding ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
Wnt signaling pathway IEA
Inferred from Electronic Annotation
more info
 
amyloid-beta clearance by cellular catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
dendrite morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
dorsal/ventral pattern formation IEA
Inferred from Electronic Annotation
more info
 
embryonic digit morphogenesis IEA
Inferred from Electronic Annotation
more info
 
endocytosis IEA
Inferred from Electronic Annotation
more info
 
hair follicle development IEA
Inferred from Electronic Annotation
more info
 
kidney development IDA
Inferred from Direct Assay
more info
PubMed 
limb development IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of axonogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of canonical Wnt signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of canonical Wnt signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of ossification IMP
Inferred from Mutant Phenotype
more info
PubMed 
odontogenesis of dentin-containing tooth IEA
Inferred from Electronic Annotation
more info
 
positive regulation of peptidyl-tyrosine phosphorylation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of presynaptic membrane organization ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of skeletal muscle acetylcholine-gated channel clustering IEA
Inferred from Electronic Annotation
more info
 
postsynaptic membrane assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
presynaptic membrane assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
proximal/distal pattern formation IEA
Inferred from Electronic Annotation
more info
 
skeletal muscle acetylcholine-gated channel clustering ISS
Inferred from Sequence or Structural Similarity
more info
 
synapse organization ISS
Inferred from Sequence or Structural Similarity
more info
 
synaptic growth at neuromuscular junction ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
cell surface IDA
Inferred from Direct Assay
more info
PubMed 
cell surface ISS
Inferred from Sequence or Structural Similarity
more info
 
dendrite ISS
Inferred from Sequence or Structural Similarity
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
neuromuscular junction ISS
Inferred from Sequence or Structural Similarity
more info
 
neuronal cell body ISS
Inferred from Sequence or Structural Similarity
more info
 
plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
plasma membrane raft ISS
Inferred from Sequence or Structural Similarity
more info
 
postsynaptic density ISS
Inferred from Sequence or Structural Similarity
more info
 
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 epidermal growth factor-like domains 7

NCBI Reference Sequences (RefSeq)

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_021394.1 RefSeqGene

    Range
    5001..66906
    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
    O75096
    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: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    46854715..46918550 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011520103.2XP_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
  2. XM_011520104.2XP_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
  3. XM_017017734.1XP_016873223.1  low-density lipoprotein receptor-related protein 4 isoform X1

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