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LRP6 (LDL receptor related protein 6)

Identity

Alias (NCBI)ADCAD2
STHAG7
HGNC (Hugo) LRP6
HGNC Alias symbADCAD2
HGNC Previous namelow density lipoprotein receptor-related protein 6
LocusID (NCBI) 4040
Atlas_Id 461
Location 12p13.2  [Link to chromosome band 12p13]
Location_base_pair Starts at 12116026 and ends at 12267044 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 Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  Burkitt's lymphoma (BL)


External links

 

Nomenclature
HGNC (Hugo)LRP6   6698
Cards
Entrez_Gene (NCBI)LRP6    LDL receptor related protein 6
AliasesADCAD2; STHAG7
GeneCards (Weizmann)LRP6
Ensembl hg19 (Hinxton)ENSG00000070018 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000070018 [Gene_View]  ENSG00000070018 [Sequence]  chr12:12116026-12267044 [Contig_View]  LRP6 [Vega]
ICGC DataPortalENSG00000070018
TCGA cBioPortalLRP6
AceView (NCBI)LRP6
Genatlas (Paris)LRP6
SOURCE (Princeton)LRP6
Genetics Home Reference (NIH)LRP6
Genomic and cartography
GoldenPath hg38 (UCSC)LRP6  -     chr12:12116026-12267044 -  12p13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)LRP6  -     12p13.2   [Description]    (hg19-Feb_2009)
GoldenPathLRP6 - 12p13.2 [CytoView hg19]  LRP6 - 12p13.2 [CytoView hg38]
ImmunoBaseENSG00000070018
Genome Data Viewer NCBILRP6 [Mapview hg19]  
OMIM603507   610947   616724   
Gene and transcription
Genbank (Entrez)AA126261 AB209683 AF074264 AK074543 AK074902
RefSeq transcript (Entrez)NM_002336
Consensus coding sequences : CCDS (NCBI)LRP6
Gene ExpressionLRP6 [ NCBI-GEO ]   LRP6 [ EBI - ARRAY_EXPRESS ]   LRP6 [ SEEK ]   LRP6 [ MEM ]
Gene Expression Viewer (FireBrowse)LRP6 [ Firebrowse - Broad ]
GenevisibleExpression of LRP6 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
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    LDL_receptor-like_sf    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
PDB (RSDB)3S2K    3S8V    3S8Z    3S94    3SOB    3SOQ    3SOV    4A0P    4DG6    4NM5    4NM7    5AIR    5FWW    5GJE    6H15    6H16    6L6R   
PDB Europe3S2K    3S8V    3S8Z    3S94    3SOB    3SOQ    3SOV    4A0P    4DG6    4NM5    4NM7    5AIR    5FWW    5GJE    6H15    6H16    6L6R   
PDB (PDBSum)3S2K    3S8V    3S8Z    3S94    3SOB    3SOQ    3SOV    4A0P    4DG6    4NM5    4NM7    5AIR    5FWW    5GJE    6H15    6H16    6L6R   
PDB (IMB)3S2K    3S8V    3S8Z    3S94    3SOB    3SOQ    3SOV    4A0P    4DG6    4NM5    4NM7    5AIR    5FWW    5GJE    6H15    6H16    6L6R   
Structural Biology KnowledgeBase3S2K    3S8V    3S8Z    3S94    3SOB    3SOQ    3SOV    4A0P    4DG6    4NM5    4NM7    5AIR    5FWW    5GJE    6H15    6H16    6L6R   
SCOP (Structural Classification of Proteins)3S2K    3S8V    3S8Z    3S94    3SOB    3SOQ    3SOV    4A0P    4DG6    4NM5    4NM7    5AIR    5FWW    5GJE    6H15    6H16    6L6R   
CATH (Classification of proteins structures)3S2K    3S8V    3S8Z    3S94    3SOB    3SOQ    3SOV    4A0P    4DG6    4NM5    4NM7    5AIR    5FWW    5GJE    6H15    6H16    6L6R   
SuperfamilyO75581
AlphaFold pdb e-kbO75581   
Human Protein Atlas [tissue]ENSG00000070018-LRP6 [tissue]
HPRD04617
Protein Interaction databases
DIP (DOE-UCLA)O75581
IntAct (EBI)O75581
BioGRIDLRP6
STRING (EMBL)LRP6
ZODIACLRP6
Ontologies - Pathways
QuickGOO75581
Ontology : AmiGOnegative regulation of protein phosphorylation  low-density lipoprotein particle receptor activity  signaling receptor binding  frizzled binding  protein binding  extracellular region  early endosome  endoplasmic reticulum  Golgi apparatus  plasma membrane  plasma membrane  plasma membrane  caveola  negative regulation of protein kinase activity  positive regulation of cytosolic calcium ion concentration  chemical synaptic transmission  cell surface  neural crest formation  neural crest cell differentiation  integral component of membrane  Wnt signaling pathway  Wnt-protein binding  Wnt-protein binding  kinase inhibitor activity  toxin transmembrane transporter activity  toxin transmembrane transporter activity  cytoplasmic vesicle  early endosome membrane  negative regulation of smooth muscle cell apoptotic process  identical protein binding  protein homodimerization activity  Wnt-activated receptor activity  neuronal cell body  response to peptide hormone  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 by RNA polymerase II  positive regulation of DNA-binding transcription factor activity  positive regulation of DNA-binding transcription factor activity  canonical Wnt signaling pathway  canonical Wnt signaling pathway  canonical Wnt signaling pathway  canonical Wnt signaling pathway  canonical Wnt signaling pathway  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  receptor-mediated endocytosis involved in cholesterol transport  Wnt signaling pathway involved in somitogenesis  cell-cell adhesion  toxin transport  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  
Ontology : EGO-EBInegative regulation of protein phosphorylation  low-density lipoprotein particle receptor activity  signaling receptor binding  frizzled binding  protein binding  extracellular region  early endosome  endoplasmic reticulum  Golgi apparatus  plasma membrane  plasma membrane  plasma membrane  caveola  negative regulation of protein kinase activity  positive regulation of cytosolic calcium ion concentration  chemical synaptic transmission  cell surface  neural crest formation  neural crest cell differentiation  integral component of membrane  Wnt signaling pathway  Wnt-protein binding  Wnt-protein binding  kinase inhibitor activity  toxin transmembrane transporter activity  toxin transmembrane transporter activity  cytoplasmic vesicle  early endosome membrane  negative regulation of smooth muscle cell apoptotic process  identical protein binding  protein homodimerization activity  Wnt-activated receptor activity  neuronal cell body  response to peptide hormone  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 by RNA polymerase II  positive regulation of DNA-binding transcription factor activity  positive regulation of DNA-binding transcription factor activity  canonical Wnt signaling pathway  canonical Wnt signaling pathway  canonical Wnt signaling pathway  canonical Wnt signaling pathway  canonical Wnt signaling pathway  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  receptor-mediated endocytosis involved in cholesterol transport  Wnt signaling pathway involved in somitogenesis  cell-cell adhesion  toxin transport  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  
Pathways : KEGGKEGG_WNT_SIGNALING   
NDEx NetworkLRP6
Atlas of Cancer Signalling NetworkLRP6
Wikipedia pathwaysLRP6
Orthology - Evolution
OrthoDB4040
GeneTree (enSembl)ENSG00000070018
Phylogenetic Trees/Animal Genes : TreeFamLRP6
Homologs : HomoloGeneLRP6
Homology/Alignments : Family Browser (UCSC)LRP6
Gene fusions - Rearrangements
Fusion : MitelmanDERA::LRP6 [12p12.3/12p13.2]  
Fusion : MitelmanLRP6::GPR19 [12p13.2/12p13.1]  
Fusion : MitelmanLRP6::NINJ2 [12p13.2/12p13.33]  
Fusion : QuiverLRP6
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerLRP6 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)LRP6
dbVarLRP6
ClinVarLRP6
MonarchLRP6
1000_GenomesLRP6 
Exome Variant ServerLRP6
GNOMAD BrowserENSG00000070018
Varsome BrowserLRP6
ACMGLRP6 variants
VarityO75581
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]  
Somatic Mutations in Cancer : COSMIC3DLRP6
Mutations and Diseases : HGMDLRP6
intOGen PortalLRP6
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaLRP6
DgiDB (Drug Gene Interaction Database)LRP6
DoCM (Curated mutations)LRP6
CIViC (Clinical Interpretations of Variants in Cancer)LRP6
Cancer3DLRP6
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603507    610947    616724   
Orphanet23036    14371   
DisGeNETLRP6
MedgenLRP6
Genetic Testing Registry LRP6
NextProtO75581 [Medical]
GENETestsLRP6
Target ValidationLRP6
Huge Navigator LRP6 [HugePedia]
ClinGenLRP6
Clinical trials, drugs, therapy
MyCancerGenomeLRP6
Protein Interactions : CTDLRP6
Pharm GKB GenePA30456
PharosO75581
Clinical trialLRP6
Miscellaneous
canSAR (ICR)LRP6
HarmonizomeLRP6
ARCHS4LRP6
DataMed IndexLRP6
Probes
Litterature
PubMed251 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXLRP6
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Thu Jan 20 12:42:29 CET 2022

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