ENSG00000070018


Homo sapiens

Features
Gene ID: ENSG00000070018
  
Biological name :LRP6
  
Synonyms : LDL receptor related protein 6 / LRP6 / O75581
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 12
Strand: -1
Band: p13.2
Gene start: 12116025
Gene end: 12267012
  
Corresponding Affymetrix probe sets: 205606_at (Human Genome U133 Plus 2.0 Array)   225745_at (Human Genome U133 Plus 2.0 Array)   34697_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000439765
Ensembl peptide - ENSP00000443239
Ensembl peptide - ENSP00000445083
Ensembl peptide - ENSP00000261349
Ensembl peptide - ENSP00000442472
NCBI entrez gene - 4040     See in Manteia.
OMIM - 603507
RefSeq - XM_017019304
RefSeq - NM_002336
RefSeq - XM_006719078
RefSeq - XM_011520671
RefSeq Peptide - NP_002327
swissprot - F5H0Z3
swissprot - O75581
swissprot - F5H7J9
swissprot - H0YGH0
swissprot - H0YGW5
Ensembl - ENSG00000070018
  
Related genetic diseases (OMIM): 610947 - {Coronary artery disease, autosomal dominant, 2}, 610947
  616724 - Tooth agenesis, selective, 7, 616724
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 lrp6ENSDARG00000100143Danio rerio
 LRP6ENSGALG00000031503Gallus gallus
 Lrp6ENSMUSG00000030201Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
LRP5 / O75197 / LDL receptor related protein 5ENSG0000016233770
LRP4 / O75096 / LDL receptor related protein 4ENSG0000013456937
LRP1 / Q07954 / LDL receptor related protein 1ENSG0000012338433
LRP2 / P98164 / LDL receptor related protein 2ENSG0000008147933
LRP1B / Q9NZR2 / LDL receptor related protein 1BENSG0000016870232
LRP8 / Q14114 / LDL receptor related protein 8ENSG0000015719310
VLDLR / P98155 / very low density lipoprotein receptorENSG000001478529
LDLR / P01130 / low density lipoprotein receptorENSG000001301649


Protein motifs (from Interpro)
Interpro ID Name
 IPR000033  LDLR class B repeat
 IPR000742  EGF-like domain
 IPR002172  Low-density lipoprotein (LDL) receptor class A repeat
 IPR011042  Six-bladed beta-propeller, TolB-like
 IPR017049  Low density lipoprotein receptor-related protein 5/6
 IPR023415  Low-density lipoprotein (LDL) receptor class A, conserved site
 IPR036055  LDL receptor-like superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001843 neural tube closure IBA
 biological_processGO:0001933 negative regulation of protein phosphorylation IMP
 biological_processGO:0003344 pericardium morphogenesis IBA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006469 negative regulation of protein kinase activity IMP
 biological_processGO:0006897 endocytosis IEA
 biological_processGO:0007204 positive regulation of cytosolic calcium ion concentration IEA
 biological_processGO:0007268 chemical synaptic transmission IEA
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0009880 embryonic pattern specification IBA
 biological_processGO:0014029 neural crest formation IDA
 biological_processGO:0014033 neural crest cell differentiation IDA
 biological_processGO:0016055 Wnt signaling pathway IEA
 biological_processGO:0021587 cerebellum morphogenesis IBA
 biological_processGO:0021794 thalamus development IBA
 biological_processGO:0021987 cerebral cortex development IBA
 biological_processGO:0030917 midbrain-hindbrain boundary development IBA
 biological_processGO:0034392 negative regulation of smooth muscle cell apoptotic process IMP
 biological_processGO:0035261 external genitalia morphogenesis IBA
 biological_processGO:0042475 odontogenesis of dentin-containing tooth IBA
 biological_processGO:0043434 response to peptide hormone IEA
 biological_processGO:0044332 Wnt signaling pathway involved in dorsal/ventral axis specification IDA
 biological_processGO:0044335 canonical Wnt signaling pathway involved in neural crest cell differentiation IC
 biological_processGO:0044340 canonical Wnt signaling pathway involved in regulation of cell proliferation IC
 biological_processGO:0045787 positive regulation of cell cycle IMP
 biological_processGO:0045893 positive regulation of transcription, DNA-templated IMP
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IDA
 biological_processGO:0051091 positive regulation of DNA-binding transcription factor activity IDA
 biological_processGO:0060021 roof of mouth development IBA
 biological_processGO:0060026 convergent extension IBA
 biological_processGO:0060059 embryonic retina morphogenesis in camera-type eye IBA
 biological_processGO:0060070 canonical Wnt signaling pathway IEA
 biological_processGO:0060325 face morphogenesis IBA
 biological_processGO:0060535 trachea cartilage morphogenesis IBA
 biological_processGO:0060828 regulation of canonical Wnt signaling pathway IGI
 biological_processGO:0071397 cellular response to cholesterol IMP
 biological_processGO:0071542 dopaminergic neuron differentiation ISS
 biological_processGO:0071901 negative regulation of protein serine/threonine kinase activity IDA
 biological_processGO:0072659 protein localization to plasma membrane IPI
 biological_processGO:0090009 primitive streak formation IBA
 biological_processGO:0090090 negative regulation of canonical Wnt signaling pathway TAS
 biological_processGO:0090118 receptor-mediated endocytosis involved in cholesterol transport IBA
 biological_processGO:0090244 Wnt signaling pathway involved in somitogenesis IBA
 biological_processGO:0090245 axis elongation involved in somitogenesis IBA
 biological_processGO:0090263 positive regulation of canonical Wnt signaling pathway IDA
 biological_processGO:0098609 cell-cell adhesion IEA
 biological_processGO:1901998 toxin transport IEA
 biological_processGO:1904886 beta-catenin destruction complex disassembly TAS
 biological_processGO:1904948 midbrain dopaminergic neuron differentiation TAS
 biological_processGO:1904953 Wnt signaling pathway involved in midbrain dopaminergic neuron differentiation TAS
 biological_processGO:2000055 positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification IDA
 cellular_componentGO:0005576 extracellular region TAS
 cellular_componentGO:0005769 early endosome IDA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005794 Golgi apparatus IDA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0005901 caveola IDA
 cellular_componentGO:0009986 cell surface IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0031410 cytoplasmic vesicle IDA
 cellular_componentGO:0031901 early endosome membrane TAS
 cellular_componentGO:0043025 neuronal cell body IEA
 cellular_componentGO:0043235 receptor complex IBA
 cellular_componentGO:0045121 membrane raft IEA
 cellular_componentGO:0045202 synapse IEA
 cellular_componentGO:1990851 Wnt-Frizzled-LRP5/6 complex TAS
 cellular_componentGO:1990909 Wnt signalosome NAS
 molecular_functionGO:0005041 low-density lipoprotein particle receptor activity IDA
 molecular_functionGO:0005102 signaling receptor binding IPI
 molecular_functionGO:0005109 frizzled binding IPI
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0017147 Wnt-protein binding IEA
 molecular_functionGO:0019210 kinase inhibitor activity IMP
 molecular_functionGO:0019534 toxin transmembrane transporter activity IMP
 molecular_functionGO:0034185 apolipoprotein binding IBA
 molecular_functionGO:0042802 identical protein binding IPI
 molecular_functionGO:0042803 protein homodimerization activity IPI
 molecular_functionGO:0042813 Wnt-activated receptor activity IEA
 molecular_functionGO:0071936 coreceptor activity involved in Wnt signaling pathway IEA
 molecular_functionGO:1904928 coreceptor activity involved in canonical Wnt signaling pathway NAS


Pathways (from Reactome)
Pathway description
TCF dependent signaling in response to WNT
Negative regulation of TCF-dependent signaling by WNT ligand antagonists
Disassembly of the destruction complex and recruitment of AXIN to the membrane
Regulation of FZD by ubiquitination
RNF mutants show enhanced WNT signaling and proliferation


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000327 Hypoplasia of the maxilla "Underdevelopment of the `Maxilla` (FMA:9711)." [HPO:probinson]
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 HP:0000347 Mandibular hypoplasia "Underdevelopment of the mandible." [HPO:curators]
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 HP:0000677 Oligodontia "The condition of missing over 6 teeth (Missing up to 6 teeth is referred to a hypodontia)." [HPO:curators]
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 HP:0000679 Taurodontia 
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 HP:0000691 Microdontia 
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 HP:0006349 Absence of permanent teeth "A congenital defect characterized by the absence of one or more permanent teeth, including oligodontia, hypodonita, and adontia of the permanent dentition." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000004975 DVL2 / O14641 / dishevelled segment polarity protein 2  / complex / reaction
 ENSG00000082701 GSK3B / P49841 / glycogen synthase kinase 3 beta  / complex / reaction
 ENSG00000131650 Q8NCW0 / KREMEN2 / kringle containing transmembrane protein 2  / reaction / complex
 ENSG00000167941 SOST / Q9BQB4 / sclerostin  / complex / reaction
 ENSG00000125084 WNT1 / P04628 / Wnt family member 1  / complex / reaction
 ENSG00000180340 FZD2 / Q14332 / frizzled class receptor 2  / reaction / complex
 ENSG00000157240 FZD1 / Q9UP38 / frizzled class receptor 1  / reaction / complex
 ENSG00000107984 DKK1 / O94907 / dickkopf WNT signaling pathway inhibitor 1  / complex / reaction
 ENSG00000174804 FZD4 / Q9ULV1 / frizzled class receptor 4  / complex
 ENSG00000103126 AXIN1 / O15169  / complex / reaction
 ENSG00000138592 USP8 / P40818 / ubiquitin specific peptidase 8  / reaction
 ENSG00000154342 WNT3A / P56704 / Wnt family member 3A  / complex / reaction
 ENSG00000161202 DVL3 / Q92997 / dishevelled segment polarity protein 3  / reaction / complex
 ENSG00000075290 WNT8B / Q93098 / Wnt family member 8B  / complex / reaction
 ENSG00000061492 WNT8A / Q9H1J5 / Wnt family member 8A  / complex / reaction
 ENSG00000107404 DVL1 / O14640 / dishevelled segment polarity protein 1  / complex / reaction
 ENSG00000183579 ZNRF3 / Q9ULT6 / zinc and ring finger 3  / reaction / complex
 ENSG00000108375 RNF43 / Q68DV7 / ring finger protein 43  / complex / reaction






 

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