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LRP6 (LDL receptor related protein 6)

Identity

Alias_nameslow density lipoprotein receptor-related protein 6
Alias_symbol (synonym)ADCAD2
Other aliasSTHAG7
HGNC (Hugo) LRP6
LocusID (NCBI) 4040
Atlas_Id 461
Location 12p13.2  [Link to chromosome band 12p13]
Location_base_pair Starts at 12116026 and ends at 12266877 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
DERA (12p12.3) / LRP6 (12p13.2)LRP6 (12p13.2) / GPR19 (12p13.1)LRP6 (12p13.2) / NINJ2 (12p13.33)
LRP6 (12p13.2) / STYK1 (12p13.2)TOX3 (16q12.1) / LRP6 (12p13.2)DERA 12p12.3 / LRP6 12p13.2
LRP6 12p13.2 / GPR19 12p13.1LRP6 12p13.2 / NINJ2 12p13.33

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  Colon: Colorectal adenocarcinoma


External links

Nomenclature
HGNC (Hugo)LRP6   6698
Cards
Entrez_Gene (NCBI)LRP6  4040  LDL receptor related protein 6
AliasesADCAD2; STHAG7
GeneCards (Weizmann)LRP6
Ensembl hg19 (Hinxton)ENSG00000070018 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000070018 [Gene_View]  chr12:12116026-12266877 [Contig_View]  LRP6 [Vega]
ICGC DataPortalENSG00000070018
TCGA cBioPortalLRP6
AceView (NCBI)LRP6
Genatlas (Paris)LRP6
WikiGenes4040
SOURCE (Princeton)LRP6
Genetics Home Reference (NIH)LRP6
Genomic and cartography
GoldenPath hg38 (UCSC)LRP6  -     chr12:12116026-12266877 -  12p13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)LRP6  -     12p13.2   [Description]    (hg19-Feb_2009)
EnsemblLRP6 - 12p13.2 [CytoView hg19]  LRP6 - 12p13.2 [CytoView hg38]
Mapping of homologs : NCBILRP6 [Mapview hg19]  LRP6 [Mapview hg38]
OMIM603507   610947   616724   
Gene and transcription
Genbank (Entrez)AA126261 AB209683 AF074264 AK074543 AK074902
RefSeq transcript (Entrez)NM_002336
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)LRP6
Cluster EST : UnigeneHs.658913 [ NCBI ]
CGAP (NCI)Hs.658913
Alternative Splicing GalleryENSG00000070018
Gene ExpressionLRP6 [ NCBI-GEO ]   LRP6 [ EBI - ARRAY_EXPRESS ]   LRP6 [ SEEK ]   LRP6 [ MEM ]
Gene Expression Viewer (FireBrowse)LRP6 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4040
GTEX Portal (Tissue expression)LRP6
Human Protein AtlasENSG00000070018-LRP6 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO75581   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO75581  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO75581
Splice isoforms : SwissVarO75581
PhosPhoSitePlusO75581
Domaine pattern : Prosite (Expaxy)EGF_2 (PS01186)    LDLRA_1 (PS01209)    LDLRA_2 (PS50068)    LDLRB (PS51120)   
Domains : Interpro (EBI)6-blade_b-propeller_TolB-like    EGF-like_dom    LDLR_class-A_CS    LDLR_classB_rpt    LDrepeatLR_classA_rpt    LRP5/6   
Domain families : Pfam (Sanger)Ldl_recept_a (PF00057)    Ldl_recept_b (PF00058)   
Domain families : Pfam (NCBI)pfam00057    pfam00058   
Domain families : Smart (EMBL)EGF (SM00181)  LDLa (SM00192)  LY (SM00135)  
Conserved Domain (NCBI)LRP6
DMDM Disease mutations4040
Blocks (Seattle)LRP6
PDB (SRS)3S2K    3S8V    3S8Z    3S94    3SOB    3SOQ    3SOV    4A0P    4DG6    4NM5    4NM7    5AIR    5FWW    5GJE   
PDB (PDBSum)3S2K    3S8V    3S8Z    3S94    3SOB    3SOQ    3SOV    4A0P    4DG6    4NM5    4NM7    5AIR    5FWW    5GJE   
PDB (IMB)3S2K    3S8V    3S8Z    3S94    3SOB    3SOQ    3SOV    4A0P    4DG6    4NM5    4NM7    5AIR    5FWW    5GJE   
PDB (RSDB)3S2K    3S8V    3S8Z    3S94    3SOB    3SOQ    3SOV    4A0P    4DG6    4NM5    4NM7    5AIR    5FWW    5GJE   
Structural Biology KnowledgeBase3S2K    3S8V    3S8Z    3S94    3SOB    3SOQ    3SOV    4A0P    4DG6    4NM5    4NM7    5AIR    5FWW    5GJE   
SCOP (Structural Classification of Proteins)3S2K    3S8V    3S8Z    3S94    3SOB    3SOQ    3SOV    4A0P    4DG6    4NM5    4NM7    5AIR    5FWW    5GJE   
CATH (Classification of proteins structures)3S2K    3S8V    3S8Z    3S94    3SOB    3SOQ    3SOV    4A0P    4DG6    4NM5    4NM7    5AIR    5FWW    5GJE   
SuperfamilyO75581
Human Protein Atlas [tissue]ENSG00000070018-LRP6 [tissue]
Peptide AtlasO75581
HPRD04617
IPIIPI00000203   IPI01010047   IPI01011350   IPI00922064   IPI01010839   
Protein Interaction databases
DIP (DOE-UCLA)O75581
IntAct (EBI)O75581
FunCoupENSG00000070018
BioGRIDLRP6
STRING (EMBL)LRP6
ZODIACLRP6
Ontologies - Pathways
QuickGOO75581
Ontology : AmiGOneural tube closure  negative regulation of protein phosphorylation  pericardium morphogenesis  low-density lipoprotein receptor activity  receptor binding  frizzled binding  protein binding  extracellular region  early endosome  endoplasmic reticulum  Golgi apparatus  plasma membrane  plasma membrane  caveola  negative regulation of protein kinase activity  positive regulation of cytosolic calcium ion concentration  chemical synaptic transmission  embryonic pattern specification  cell surface  neural crest formation  neural crest cell differentiation  integral component of membrane  Wnt signaling pathway  Wnt signaling pathway  single organismal cell-cell adhesion  Wnt-protein binding  Wnt-protein binding  kinase inhibitor activity  toxin transporter activity  toxin transporter activity  cerebellum morphogenesis  thalamus development  cerebral cortex development  midbrain-hindbrain boundary development  cytoplasmic vesicle  early endosome membrane  apolipoprotein binding  negative regulation of smooth muscle cell apoptotic process  external genitalia morphogenesis  odontogenesis of dentin-containing tooth  identical protein binding  protein homodimerization activity  Wnt-activated receptor activity  neuronal cell body  receptor complex  response to peptide hormone  Wnt signaling pathway involved in dorsal/ventral axis specification  canonical Wnt signaling pathway involved in neural crest cell differentiation  canonical Wnt signaling pathway involved in regulation of cell proliferation  synapse  positive regulation of cell cycle  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  positive regulation of sequence-specific DNA binding transcription factor activity  palate development  convergent extension  embryonic retina morphogenesis in camera-type eye  canonical Wnt signaling pathway  canonical Wnt signaling pathway  canonical Wnt signaling pathway  face morphogenesis  trachea cartilage morphogenesis  regulation of canonical Wnt signaling pathway  cellular response to cholesterol  dopaminergic neuron differentiation  negative regulation of protein serine/threonine kinase activity  coreceptor activity involved in Wnt signaling pathway  protein localization to plasma membrane  primitive streak formation  negative regulation of canonical Wnt signaling pathway  receptor-mediated endocytosis involved in cholesterol transport  Wnt signaling pathway involved in somitogenesis  axis elongation involved in somitogenesis  positive regulation of canonical Wnt signaling pathway  toxin transport  beta-catenin destruction complex disassembly  coreceptor activity involved in canonical Wnt signaling pathway  midbrain dopaminergic neuron differentiation  Wnt signaling pathway involved in midbrain dopaminergic neuron differentiation  Wnt-Frizzled-LRP5/6 complex  Wnt-Frizzled-LRP5/6 complex  Wnt-Frizzled-LRP5/6 complex  Wnt signalosome  Wnt signalosome  positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification  
Ontology : EGO-EBIneural tube closure  negative regulation of protein phosphorylation  pericardium morphogenesis  low-density lipoprotein receptor activity  receptor binding  frizzled binding  protein binding  extracellular region  early endosome  endoplasmic reticulum  Golgi apparatus  plasma membrane  plasma membrane  caveola  negative regulation of protein kinase activity  positive regulation of cytosolic calcium ion concentration  chemical synaptic transmission  embryonic pattern specification  cell surface  neural crest formation  neural crest cell differentiation  integral component of membrane  Wnt signaling pathway  Wnt signaling pathway  single organismal cell-cell adhesion  Wnt-protein binding  Wnt-protein binding  kinase inhibitor activity  toxin transporter activity  toxin transporter activity  cerebellum morphogenesis  thalamus development  cerebral cortex development  midbrain-hindbrain boundary development  cytoplasmic vesicle  early endosome membrane  apolipoprotein binding  negative regulation of smooth muscle cell apoptotic process  external genitalia morphogenesis  odontogenesis of dentin-containing tooth  identical protein binding  protein homodimerization activity  Wnt-activated receptor activity  neuronal cell body  receptor complex  response to peptide hormone  Wnt signaling pathway involved in dorsal/ventral axis specification  canonical Wnt signaling pathway involved in neural crest cell differentiation  canonical Wnt signaling pathway involved in regulation of cell proliferation  synapse  positive regulation of cell cycle  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  positive regulation of sequence-specific DNA binding transcription factor activity  palate development  convergent extension  embryonic retina morphogenesis in camera-type eye  canonical Wnt signaling pathway  canonical Wnt signaling pathway  canonical Wnt signaling pathway  face morphogenesis  trachea cartilage morphogenesis  regulation of canonical Wnt signaling pathway  cellular response to cholesterol  dopaminergic neuron differentiation  negative regulation of protein serine/threonine kinase activity  coreceptor activity involved in Wnt signaling pathway  protein localization to plasma membrane  primitive streak formation  negative regulation of canonical Wnt signaling pathway  receptor-mediated endocytosis involved in cholesterol transport  Wnt signaling pathway involved in somitogenesis  axis elongation involved in somitogenesis  positive regulation of canonical Wnt signaling pathway  toxin transport  beta-catenin destruction complex disassembly  coreceptor activity involved in canonical Wnt signaling pathway  midbrain dopaminergic neuron differentiation  Wnt signaling pathway involved in midbrain dopaminergic neuron differentiation  Wnt-Frizzled-LRP5/6 complex  Wnt-Frizzled-LRP5/6 complex  Wnt-Frizzled-LRP5/6 complex  Wnt signalosome  Wnt signalosome  positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification  
Pathways : KEGGWnt signaling pathway   
NDEx NetworkLRP6
Atlas of Cancer Signalling NetworkLRP6
Wikipedia pathwaysLRP6
Orthology - Evolution
OrthoDB4040
GeneTree (enSembl)ENSG00000070018
Phylogenetic Trees/Animal Genes : TreeFamLRP6
HOVERGENO75581
HOGENOMO75581
Homologs : HomoloGeneLRP6
Homology/Alignments : Family Browser (UCSC)LRP6
Gene fusions - Rearrangements
Fusion : MitelmanDERA/LRP6 [12p12.3/12p13.2]  [t(12;12)(p12;p13)]  
Fusion : MitelmanLRP6/GPR19 [12p13.2/12p13.1]  [t(12;12)(p13;p13)]  
Fusion : MitelmanLRP6/NINJ2 [12p13.2/12p13.33]  [t(12;12)(p13;p13)]  
Fusion: TCGA_MDACCDERA 12p12.3 LRP6 12p13.2 BRCA
Fusion: TCGA_MDACCLRP6 12p13.2 GPR19 12p13.1 BRCA
Fusion: TCGA_MDACCLRP6 12p13.2 NINJ2 12p13.33 LGG
Tumor Fusion PortalLRP6
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerLRP6 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)LRP6
dbVarLRP6
ClinVarLRP6
1000_GenomesLRP6 
Exome Variant ServerLRP6
ExAC (Exome Aggregation Consortium)ENSG00000070018
GNOMAD BrowserENSG00000070018
Genetic variants : HAPMAP4040
Genomic Variants (DGV)LRP6 [DGVbeta]
DECIPHERLRP6 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisLRP6 
Mutations
ICGC Data PortalLRP6 
TCGA Data PortalLRP6 
Broad Tumor PortalLRP6
OASIS PortalLRP6 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICLRP6  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDLRP6
intOGen PortalLRP6
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Mendelian genes
BioMutasearch LRP6
DgiDB (Drug Gene Interaction Database)LRP6
DoCM (Curated mutations)LRP6 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)LRP6 (select a term)
intoGenLRP6
Cancer3DLRP6(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603507    610947    616724   
Orphanet14371   
DisGeNETLRP6
MedgenLRP6
Genetic Testing Registry LRP6
NextProtO75581 [Medical]
TSGene4040
GENETestsLRP6
Target ValidationLRP6
Huge Navigator LRP6 [HugePedia]
snp3D : Map Gene to Disease4040
BioCentury BCIQLRP6
ClinGenLRP6
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4040
Chemical/Pharm GKB GenePA30456
Clinical trialLRP6
Miscellaneous
canSAR (ICR)LRP6 (select the gene name)
Probes
Litterature
PubMed178 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineLRP6
EVEXLRP6
GoPubMedLRP6
iHOPLRP6
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 14:20:54 CET 2017

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