This gene encodes a member of the low density lipoprotein (LDL) receptor gene family. LDL receptors are transmembrane cell surface proteins involved in receptor-mediated endocytosis of lipoprotein and protein ligands. The protein encoded by this gene functions as a receptor or, with Frizzled, a co-receptor for Wnt and thereby transmits the canonical Wnt/beta-catenin signaling c... See more...

Aliases for LRP6 Gene

Aliases for LRP6 Gene

  • LDL Receptor Related Protein 6 2 3 5
  • Low-Density Lipoprotein Receptor-Related Protein 6 3 4
  • ADCAD2 2 3
  • LRP-6 3 4
  • Low Density Lipoprotein Receptor-Related Protein 6 2
  • STHAG7 3
  • LRP6 5

External Ids for LRP6 Gene

Previous GeneCards Identifiers for LRP6 Gene

  • GC12M012001
  • GC12M012417
  • GC12M012173
  • GC12M012164
  • GC12M012272
  • GC12M012439
  • GC12M012660
  • GC12M012814
  • GC12M013402
  • GC12M012284
  • GC12M012311
  • GC12M013893
  • GC12M014416

Summaries for LRP6 Gene

Entrez Gene Summary for LRP6 Gene

  • This gene encodes a member of the low density lipoprotein (LDL) receptor gene family. LDL receptors are transmembrane cell surface proteins involved in receptor-mediated endocytosis of lipoprotein and protein ligands. The protein encoded by this gene functions as a receptor or, with Frizzled, a co-receptor for Wnt and thereby transmits the canonical Wnt/beta-catenin signaling cascade. Through its interaction with the Wnt/beta-catenin signaling cascade this gene plays a role in the regulation of cell differentiation, proliferation, and migration and the development of many cancer types. This protein undergoes gamma-secretase dependent RIP- (regulated intramembrane proteolysis) processing but the precise locations of the cleavage sites have not been determined.[provided by RefSeq, Dec 2009]

GeneCards Summary for LRP6 Gene

LRP6 (LDL Receptor Related Protein 6) is a Protein Coding gene. Diseases associated with LRP6 include Coronary Artery Disease, Autosomal Dominant 2 and Tooth Agenesis, Selective, 7. Among its related pathways are Pathways of neurodegeneration - multiple diseases and Gastric cancer. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and signaling receptor binding. An important paralog of this gene is LRP5.

UniProtKB/Swiss-Prot Summary for LRP6 Gene

  • Component of the Wnt-Fzd-LRP5-LRP6 complex that triggers beta-catenin signaling through inducing aggregation of receptor-ligand complexes into ribosome-sized signalsomes. Cell-surface coreceptor of Wnt/beta-catenin signaling, which plays a pivotal role in bone formation. The Wnt-induced Fzd/LRP6 coreceptor complex recruits DVL1 polymers to the plasma membrane which, in turn, recruits the AXIN1/GSK3B-complex to the cell surface promoting the formation of signalsomes and inhibiting AXIN1/GSK3-mediated phosphorylation and destruction of beta-catenin. Required for posterior patterning of the epiblast during gastrulation (By similarity).

Gene Wiki entry for LRP6 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LRP6 Gene

Genomics for LRP6 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for LRP6 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LRP6 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LRP6

Top Transcription factor binding sites by QIAGEN in the LRP6 gene promoter:
  • c-Myb
  • Egr-2
  • HNF-4alpha1
  • HNF-4alpha2
  • Lhx3a
  • LHX3b
  • MyoD
  • Nkx2-5
  • Pax-4a

Genomic Locations for LRP6 Gene

Latest Assembly
chr12:12,116,025-12,267,044
(GRCh38/hg38)
Size:
151,020 bases
Orientation:
Minus strand

Previous Assembly
chr12:12,268,959-12,419,978
(GRCh37/hg19 by Entrez Gene)
Size:
151,020 bases
Orientation:
Minus strand

chr12:12,268,959-12,419,946
(GRCh37/hg19 by Ensembl)
Size:
150,988 bases
Orientation:
Minus strand

Alternative Locations (GRCh38/hg38)

  • chr12(PATCHES):85,023-236,042 (-)

Genomic View for LRP6 Gene

Genes around LRP6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LRP6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LRP6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LRP6 Gene

Proteins for LRP6 Gene

  • Protein details for LRP6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75581-LRP6_HUMAN
    Recommended name:
    Low-density lipoprotein receptor-related protein 6
    Protein Accession:
    O75581
    Secondary Accessions:
    • Q17RZ2

    Protein attributes for LRP6 Gene

    Size:
    1613 amino acids
    Molecular mass:
    180429 Da
    Quaternary structure:
    • Homodimer; disulfide-linked. Forms phosphorylated oligomer aggregates on Wnt-signaling. Forms a WNT-signaling complex formed of a WNT protein, a FZD protein and LRP5 or LRP6. Interacts (via the extracellular domain) with WNT1; the interaction is enhanced by prior formation of the Wnt/Fzd complex. Interacts (via the beta-propeller regions 3 and 4) with WNT3A. Interacts (via the beta-propeller regions 1 and 2) with WNT9B. Interacts with FZD5; the interaction forms a coreceptor complex for Wnt signaling and is inhibited by DKK1 and DRAXIN. Interacts (via beta propeller region) with DKK1; the interaction inhibits FZD5/LRP6 complex formation. Interacts with DKK2. Interacts with C1orf187/DRAXIN; the interaction inhibits Wnt signaling (By similarity). Interacts (via the phosphorylated PPPSP motifs) with AXIN1; the interaction recruits the AXIN1/GSK3B complex to cell surface LRP6 signalsomes. Interacts with GRB10; the interaction prevents AXIN1 binding, thus negatively regulating the Wnt signaling pathway (By similarity). Interacts (via the extracellular domain) with RSPO1; the interaction activates Wnt/beta-catenin signaling. Interacts (via the extracellular domain) with RSPO3 (via the cysteine rich domain); the interaction activates Wnt/beta-catenin signaling. Interacts (via the beta-propeller regions 1 and 2) with SOST; the interaction competes with DKK1 for binding for inhibiting beta-catenin signaling. Interacts with MESD; the interaction prevents the formation of LRP6 aggregates and targets LRP6 to the plasma membrane (By similarity). Interacts (via the cytoplasmic domain) with CSNKIE; the interaction phosphorylates LRP6, binds AXIN1 and inhibits AXIN1/GSK3B-mediated phosphorylation of beta-catenin. Interacts with MACF1. Interacts with DAB2; the interaction involves LRP6 phosphorylation by CK2 and sequesters LRP6 towards clathrin-mediated endocytosis. Interacts with TMEM198. Interacts with CAPRIN2; the interaction promotes LRP6 phosphorylation at Ser-1490 (PubMed:18762581, PubMed:25331957). Found in a complex with CAPRIN2, CCNY and CDK14 during G2/M stage; CAPRIN2 functions as a scaffold for the complex by binding to CCNY via its N terminus and to CDK14 via its C terminus (PubMed:27821587). Interacts with LYPD6 (PubMed:23987510). Forms a ternary complex with DKK1 and KREM1 (PubMed:27524201). Interacts with KREM1 in a DKK1-dependent manner (PubMed:17804805). Interacts with MDK: this interaction is calcium dependent (By similarity). Interacts with LMBR1L (PubMed:31073040).

    Three dimensional structures from OCA and Proteopedia for LRP6 Gene

neXtProt entry for LRP6 Gene

Post-translational modifications for LRP6 Gene

  • Dual phosphorylation of cytoplasmic PPPSP motifs sequentially by GSK3 and CK1 is required for AXIN1-binding, and subsequent stabilization and activation of beta-catenin via preventing GSK3-mediated phosphorylation of beta-catenin. Phosphorylated, in vitro, by GRK5/6 within and outside the PPPSP motifs. Phosphorylation at Ser-1490 by CDK14 during G2/M phase leads to regulation of the Wnt signaling pathway during the cell cycle. Phosphorylation by GSK3B is induced by RPSO1 binding and inhibited by DKK1. Phosphorylated, in vitro, by casein kinase I on Thr-1479.
  • Undergoes gamma-secretase-dependent regulated intramembrane proteolysis (RIP). The extracellular domain is first released by shedding, and then, through the action of gamma-secretase, the intracellular domain (ICD) is released into the cytoplasm where it is free to bind to GSK3B and to activate canonical Wnt signaling.
  • Palmitoylation on the two sites near the transmembrane domain leads to release of LRP6 from the endoplasmic reticulum.
  • Mono-ubiquitinated which retains LRP6 in the endoplasmic reticulum. Ubiquitinated by ZNRF3, leading to its degradation by the proteasome.
  • N-glycosylation is required for cell surface location.
  • Glycosylation at Asn42, Asn81, Asn281, Asn433, Asn486, Asn692, Asn859, Asn865, Asn926, and Asn1039
  • Ubiquitination at Lys1403
  • Modification sites at PhosphoSitePlus

Other Protein References for LRP6 Gene

Antibodies for research

  • Abcam antibodies for LRP6
  • Boster Bio Antibodies for LRP6
  • Santa Cruz Biotechnology (SCBT) Antibodies for LRP6

No data available for DME Specific Peptides for LRP6 Gene

Domains & Families for LRP6 Gene

Gene Families for LRP6 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for LRP6 Gene

Suggested Antigen Peptide Sequences for LRP6 Gene

GenScript: Design optimal peptide antigens:
  • LRP6 protein (B7ZLD0_HUMAN)
  • Low-density lipoprotein receptor-related protein 6 (LRP6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O75581

UniProtKB/Swiss-Prot:

LRP6_HUMAN :
  • The YWTD-EGF-like domains 1 and 2 are required for the interaction with Wnt-frizzled complex. The YWTD-EGF-like domains 3 and 4 are required for the interaction with DKK1.
  • Belongs to the LDLR family.
Domain:
  • The YWTD-EGF-like domains 1 and 2 are required for the interaction with Wnt-frizzled complex. The YWTD-EGF-like domains 3 and 4 are required for the interaction with DKK1.
  • The PPPSP motifs play a central role in signal transduction by being phosphorylated, leading to activate the Wnt signaling pathway.
Family:
  • Belongs to the LDLR family.
genes like me logo Genes that share domains with LRP6: view

Function for LRP6 Gene

Molecular function for LRP6 Gene

UniProtKB/Swiss-Prot Function:
Component of the Wnt-Fzd-LRP5-LRP6 complex that triggers beta-catenin signaling through inducing aggregation of receptor-ligand complexes into ribosome-sized signalsomes. Cell-surface coreceptor of Wnt/beta-catenin signaling, which plays a pivotal role in bone formation. The Wnt-induced Fzd/LRP6 coreceptor complex recruits DVL1 polymers to the plasma membrane which, in turn, recruits the AXIN1/GSK3B-complex to the cell surface promoting the formation of signalsomes and inhibiting AXIN1/GSK3-mediated phosphorylation and destruction of beta-catenin. Required for posterior patterning of the epiblast during gastrulation (By similarity).
UniProtKB/Swiss-Prot Induction:
Decreased levels on WNT3A stimulation.
GENATLAS Biochemistry:
low-density lipoprotein receptor related protein 6,putative tumor suppressor of leukemia

Phenotypes From GWAS Catalog for LRP6 Gene

Gene Ontology (GO) - Molecular Function for LRP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005041 low-density lipoprotein particle receptor activity IBA,IDA 16263759
GO:0005102 signaling receptor binding IPI 14739301
GO:0005109 frizzled binding IPI 11029007
GO:0005515 protein binding IEA,IPI 11029007
GO:0015026 coreceptor activity IBA 21873635
genes like me logo Genes that share ontologies with LRP6: view
genes like me logo Genes that share phenotypes with LRP6: view

Human Phenotype Ontology for LRP6 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for LRP6 Gene

MGI Knock Outs for LRP6:
  • Lrp6 Lrp6<tm1.2Cjz>
  • Lrp6 Lrp6<tm1.2Vari>

Animal Models for research

  • Taconic Biosciences Mouse Models for LRP6

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LRP6

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for LRP6 Gene

Localization for LRP6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LRP6 Gene

Cell membrane. Single-pass type I membrane protein. Endoplasmic reticulum. Membrane raft. Note=On Wnt signaling, undergoes a cycle of caveolin- or clathrin-mediated endocytosis and plasma membrane location. Released from the endoplasmic reticulum on palmitoylation. Mono-ubiquitination retains it in the endoplasmic reticulum in the absence of palmitoylation. On Wnt signaling, phosphorylated, aggregates and colocalizes with AXIN1 and GSK3B at the plasma membrane in LRP6-signalsomes. Chaperoned to the plasma membrane by MESD (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LRP6 gene
Compartment Confidence
plasma membrane 5
extracellular 5
endoplasmic reticulum 4
endosome 4
nucleus 3
cytoskeleton 2
mitochondrion 2
cytosol 2
lysosome 2
golgi apparatus 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for LRP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005769 colocalizes_with early endosome IDA 16890161
GO:0005783 endoplasmic reticulum IEA --
GO:0005794 colocalizes_with Golgi apparatus IDA 16890161
GO:0005886 plasma membrane IEA,TAS --
genes like me logo Genes that share ontologies with LRP6: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for LRP6 Gene

Pathways & Interactions for LRP6 Gene

genes like me logo Genes that share pathways with LRP6: view

Pathways by source for LRP6 Gene

1 R&D Systems pathway for LRP6 Gene
4 Qiagen pathways for LRP6 Gene
  • Colorectal Cancer Metastasis
  • Molecular Mechanisms of Cancer
  • Reelin Pathway (Cajal-Retzius cells)
  • WNT Signaling
1 Cell Signaling Technology pathway for LRP6 Gene
1 GeneTex pathway for LRP6 Gene

Gene Ontology (GO) - Biological Process for LRP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001843 neural tube closure IBA 21873635
GO:0001933 negative regulation of protein phosphorylation IMP 16365045
GO:0003344 pericardium morphogenesis IBA 21873635
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006469 negative regulation of protein kinase activity IMP 16365045
genes like me logo Genes that share ontologies with LRP6: view

Drugs & Compounds for LRP6 Gene

(3) Drugs for LRP6 Gene - From: ApexBio and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
COG 133 Pharma ApoE mimetic peptide, ApoE peptide fragment 0

(1) Additional Compounds for LRP6 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(1) ApexBio Compounds for LRP6 Gene

Compound Action Cas Number
COG 133 ApoE mimetic peptide 514200-66-9
genes like me logo Genes that share compounds with LRP6: view

Drug products for research

Transcripts for LRP6 Gene

mRNA/cDNA for LRP6 Gene

1 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LRP6

Alternative Splicing Database (ASD) splice patterns (SP) for LRP6 Gene

No ASD Table

Relevant External Links for LRP6 Gene

GeneLoc Exon Structure for
LRP6

Expression for LRP6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for LRP6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for LRP6 Gene

This gene is overexpressed in Plasma (63.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for LRP6 Gene



Protein tissue co-expression partners for LRP6 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LRP6

SOURCE GeneReport for Unigene cluster for LRP6 Gene:

Hs.584775

mRNA Expression by UniProt/SwissProt for LRP6 Gene:

O75581-LRP6_HUMAN
Tissue specificity: Widely coexpressed with LRP5 during embryogenesis and in adult tissues.

Evidence on tissue expression from TISSUES for LRP6 Gene

  • Nervous system(4.7)
  • Kidney(4.6)
  • Lung(3.5)
  • Gall bladder(2.7)
  • Liver(2.7)
  • Intestine(2.6)
  • Heart(2.6)
  • Muscle(2.6)
  • Blood(2.4)
  • Bone(2.3)
  • Skin(2.2)
  • Thyroid gland(2.2)
  • Spleen(2.1)
  • Eye(2)
  • Pancreas(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for LRP6 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • skeleton
Regions:
Head and neck:
  • chin
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
  • tooth
Thorax:
  • chest wall
  • clavicle
  • rib
  • rib cage
  • scapula
  • sternum
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with LRP6: view

Primer products for research

No data available for mRNA differential expression in normal tissues for LRP6 Gene

Orthologs for LRP6 Gene

This gene was present in the common ancestor of animals.

Orthologs for LRP6 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia LRP6 29 30
  • 99.67 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia LRP6 30
  • 97 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia LRP6 29 30
  • 95.43 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia LRP6 30
  • 95 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia LRP6 29 30
  • 93.99 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Lrp6 29 16 30
  • 90.91 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Lrp6 29
  • 90.3 (n)
Chicken
(Gallus gallus)
Aves LRP6 29 30
  • 82.17 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia LRP6 30
  • 91 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia lrp6 29
  • 74.56 (n)
Str.7507 29
African clawed frog
(Xenopus laevis)
Amphibia lrp6-B 29
Zebrafish
(Danio rerio)
Actinopterygii lrp6 29 30
  • 69.39 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta arr 29 30 31
  • 50.58 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011770 29
  • 26.23 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 58 (a)
OneToMany
Species where no ortholog for LRP6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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 Vase (Ciona intestinalis)
  • 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 LRP6 Gene

ENSEMBL:
Gene Tree for LRP6 (if available)
TreeFam:
Gene Tree for LRP6 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for LRP6: view image
Alliance of Genome Resources:
Additional Orthologs for LRP6

Paralogs for LRP6 Gene

Paralogs for LRP6 Gene

(10) SIMAP similar genes for LRP6 Gene using alignment to 6 proteins:

  • LRP6_HUMAN
  • B7ZLD0_HUMAN
  • F5H0Z3_HUMAN
  • F5H7J9_HUMAN
  • H0YGH0_HUMAN
  • H0YGW5_HUMAN
genes like me logo Genes that share paralogs with LRP6: view

Variants for LRP6 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LRP6 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
1033503 Pathogenic: Tooth agenesis, selective, 7 12,147,367(-) TGA/T
NM_002336.3(LRP6):c.3394_3395del (p.Ser1132fs)
FRAMESHIFT
1033504 Pathogenic: Tooth agenesis, selective, 7 12,184,080(-) ACC/A
NM_002336.3(LRP6):c.874_875del (p.Gly292fs)
FRAMESHIFT
221487 Uncertain Significance: Ductal breast carcinoma 12,198,796(-) AGTGCTGGGATTATAG
GRCh38/hg38 12p13.2(chr12:12198797-12200966)x1
947760 Pathogenic: not provided 12,181,173(-) G/A
NM_002336.3(LRP6):c.1243C>T (p.Arg415Ter)
NONSENSE
975932 Uncertain Significance: Neurodevelopmental delay 12,125,383(-) T/TC
NM_002336.3(LRP6):c.4361dup (p.Ser1455fs)
FRAMESHIFT

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for LRP6 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for LRP6 Gene

Variant ID Type Subtype PubMed ID
esv2658217 CNV deletion 23128226
esv2745567 CNV deletion 23290073
esv3348601 CNV insertion 20981092
esv3628602 CNV loss 21293372
esv3628603 CNV gain 21293372
esv3628604 CNV loss 21293372
nsv1046355 CNV loss 25217958
nsv1050715 CNV gain 25217958
nsv1125541 CNV tandem duplication 24896259
nsv529005 CNV loss 19592680
nsv832332 CNV loss 17160897
nsv975452 CNV duplication 23825009
nsv976580 CNV duplication 23825009

Variation tolerance for LRP6 Gene

Residual Variation Intolerance Score: 8.98% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.92; 67.82% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LRP6 Gene

Human Gene Mutation Database (HGMD)
LRP6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
LRP6
Leiden Open Variation Database (LOVD)
LRP6

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LRP6 Gene

Disorders for LRP6 Gene

MalaCards: The human disease database

(27) MalaCards diseases for LRP6 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
coronary artery disease, autosomal dominant 2
  • adcad2
tooth agenesis, selective, 7
  • sthag7
orofacial cleft
  • cleft, orofacial
orofacial clefting syndrome
  • orofacial clefting
tooth agenesis
  • familial tooth agenesis
- elite association - COSMIC cancer census association via MalaCards
Search LRP6 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

LRP6_HUMAN
  • Coronary artery disease, autosomal dominant, 2 (ADCAD2) [MIM:610947]: A common heart disease characterized by reduced or absent blood flow in one or more of the arteries that encircle and supply the heart. Its most important complication is acute myocardial infarction. {ECO:0000269 PubMed:17332414, ECO:0000269 PubMed:23703864}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Tooth agenesis, selective, 7 (STHAG7) [MIM:616724]: An autosomal dominant form of selective tooth agenesis, a common anomaly characterized by the congenital absence of one or more teeth. Selective tooth agenesis without associated systemic disorders has sometimes been divided into 2 types: oligodontia, defined as agenesis of 6 or more permanent teeth, and hypodontia, defined as agenesis of less than 6 teeth. The number in both cases does not include absence of third molars (wisdom teeth). {ECO:0000269 PubMed:26387593}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for LRP6

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with LRP6: view

No data available for Genatlas for LRP6 Gene

Publications for LRP6 Gene

  1. LRP6 mutation in a family with early coronary disease and metabolic risk factors. (PMID: 17332414) Mani A … Lifton RP (Science (New York, N.Y.) 2007) 3 4 22 72
  2. Isolation and characterization of LRP6, a novel member of the low density lipoprotein receptor gene family. (PMID: 9704021) Brown SD … Hess JF (Biochemical and biophysical research communications 1998) 2 3 4 22
  3. Loss-of-Function Mutations in the WNT Co-receptor LRP6 Cause Autosomal-Dominant Oligodontia. (PMID: 26387593) Massink MP … van Haaften G (American journal of human genetics 2015) 3 4 72
  4. Reconstitution of a frizzled8.Wnt3a.LRP6 signaling complex reveals multiple Wnt and Dkk1 binding sites on LRP6. (PMID: 20093360) Bourhis E … Hannoush RN (The Journal of biological chemistry 2010) 3 4 22
  5. Cell cycle control of wnt receptor activation. (PMID: 20059949) Davidson G … Niehrs C (Developmental cell 2009) 3 4 22

Products for LRP6 Gene

  • Addgene plasmids for LRP6

Sources for LRP6 Gene