• Gene id: 4040

Gene Summary

• Gene Symbol: LRP6   Gene   UCSC   Ensembl
• Aliases: ADCAD2, STHAG7
• Gene name: LDL receptor related protein 6
• Alternate names: low-density lipoprotein receptor-related protein 6, LRP-6,
• Gene location: 12p13.2 (12267043: 12116024)     Exons: 6     NC_000012.12
• Gene summary(Entrez): 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 func
• OMIM: 603507

Protein Summary

• Protein general information: O75581  
  • Name: Low density lipoprotein receptor related protein 6 (LRP 6)
  • Length: 1613  
  • Mass: 180429
  • Tissue specificity: Widely coexpressed with LRP5 during embryogenesis and in adult tissues.
• Sequence:

  MGAVLRSLLACSFCVLLRAAPLLLYANRRDLRLVDATNGKENATIVVGGLEDAAAVDFVFSHGLIYWSDVSEEAI
  KRTEFNKTESVQNVVVSGLLSPDGLACDWLGEKLYWTDSETNRIEVSNLDGSLRKVLFWQELDQPRAIALDPSSG
  FMYWTDWGEVPKIERAGMDGSSRFIIINSEIYWPNGLTLDYEEQKLYWADAKLNFIHKSNLDGTNRQAVVKGSLP
  HPFALTLFEDILYWTDWSTHSILACNKYTGEGLREIHSDIFSPMDIHAFSQQRQPNATNPCGIDNGGCSHLCLMS
  PVKPFYQCACPTGVKLLENGKTCKDGATELLLLARRTDLRRISLDTPDFTDIVLQLEDIRHAIAIDYDPVEGYIY
  WTDDEVRAIRRSFIDGSGSQFVVTAQIAHPDGIAVDWVARNLYWTDTGTDRIEVTRLNGTMRKILISEDLEEPRA
  IVLDPMVGYMYWTDWGEIPKIERAALDGSDRVVLVNTSLGWPNGLALDYDEGKIYWGDAKTDKIEVMNTDGTGRR
  VLVEDKIPHIFGFTLLGDYVYWTDWQRRSIERVHKRSAEREVIIDQLPDLMGLKATNVHRVIGSNPCAEENGGCS
  HLCLYRPQGLRCACPIGFELISDMKTCIVPEAFLLFSRRADIRRISLETNNNNVAIPLTGVKEASALDFDVTDNR
  IYWTDISLKTISRAFMNGSALEHVVEFGLDYPEGMAVDWLGKNLYWADTGTNRIEVSKLDGQHRQVLVWKDLDSP
  RALALDPAEGFMYWTEWGGKPKIDRAAMDGSERTTLVPNVGRANGLTIDYAKRRLYWTDLDTNLIESSNMLGLNR
  EVIADDLPHPFGLTQYQDYIYWTDWSRRSIERANKTSGQNRTIIQGHLDYVMDILVFHSSRQSGWNECASSNGHC
  SHLCLAVPVGGFVCGCPAHYSLNADNRTCSAPTTFLLFSQKSAINRMVIDEQQSPDIILPIHSLRNVRAIDYDPL
  DKQLYWIDSRQNMIRKAQEDGSQGFTVVVSSVPSQNLEIQPYDLSIDIYSRYIYWTCEATNVINVTRLDGRSVGV
  VLKGEQDRPRAVVVNPEKGYMYFTNLQERSPKIERAALDGTEREVLFFSGLSKPIALALDSRLGKLFWADSDLRR
  IESSDLSGANRIVLEDSNILQPVGLTVFENWLYWIDKQQQMIEKIDMTGREGRTKVQARIAQLSDIHAVKELNLQ
  EYRQHPCAQDNGGCSHICLVKGDGTTRCSCPMHLVLLQDELSCGEPPTCSPQQFTCFTGEIDCIPVAWRCDGFTE
  CEDHSDELNCPVCSESQFQCASGQCIDGALRCNGDANCQDKSDEKNCEVLCLIDQFRCANGQCIGKHKKCDHNVD
  CSDKSDELDCYPTEEPAPQATNTVGSVIGVIVTIFVSGTVYFICQRMLCPRMKGDGETMTNDYVVHGPASVPLGY
  VPHPSSLSGSLPGMSRGKSMISSLSIMGGSSGPPYDRAHVTGASSSSSSSTKGTYFPAILNPPPSPATERSHYTM
  EFGYSSNSPSTHRSYSYRPYSYRHFAPPTTPCSTDVCDSDYAPSRRMTSVATAKGYTSDLNYDSEPVPPPPTPRS
  QYLSAEENYESCPPSPYTERSYSHHLYPPPPSPCTDSS

• Structural information:
  • Protein Domains: (282..32-)
    (/note="EGF-like-1)
    (588..62-)
    (/note="EGF-like-2)
    (889..93-)
    (/note="EGF-like-3)
    (1203..124-)
    (/note="EGF-like-4)
    (1248..128-)
    A (/note="LDL-receptor-class)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00124"-)
  • Interpro: IPR011042  IPR000742  IPR036055  IPR023415  IPR000033   IPR002172  IPR017049  
  • Prosite: PS01186 PS01209 PS50068 PS51120
  • CDD: cd00112
  • PDB: 3S2K 3S8V 3S8Z 3S94 3SOB 3SOQ 3SOV 4A0P 4DG6 4NM5 4NM7 5AIR 5FWW 5GJE 6H15 6H16
  • PDBsum: 3S2K 3S8V 3S8Z 3S94 3SOB 3SOQ 3SOV 4A0P 4DG6 4NM5 4NM7 5AIR 5FWW 5GJE 6H15 6H16
  • DIP: 29884
  • STRING: ENSP00000261349
• Other Databases: GeneCards:  LRP6  Malacards:  LRP6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0060070	canonical Wnt signaling pathway	IGI	biological process
GO:1990909	Wnt signalosome	IDA	cellular component
GO:1904928	coreceptor activity involved in canonical Wnt signaling pathway	NAS	molecular function
GO:0016055	Wnt signaling pathway	IDA	biological process
GO:1990909	Wnt signalosome	NAS	cellular component
GO:1990851	Wnt-Frizzled-LRP5/6 complex	IDA	cellular component
GO:0017147	Wnt-protein binding	IPI	molecular function
GO:0017147	Wnt-protein binding	TAS	molecular function
GO:0017147	Wnt-protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0072659	protein localization to plasma membrane	IPI	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1990851	Wnt-Frizzled-LRP5/6 complex	IPI	cellular component
GO:1990851	Wnt-Frizzled-LRP5/6 complex	IPI	cellular component
GO:1990851	Wnt-Frizzled-LRP5/6 complex	TAS	cellular component
GO:0060070	canonical Wnt signaling pathway	IDA	biological process
GO:1904948	midbrain dopaminergic neuron differentiation	TAS	biological process
GO:1904953	Wnt signaling pathway involved in midbrain dopaminergic neuron differentiation	TAS	biological process
GO:0071542	dopaminergic neuron differentiation	ISS	biological process
GO:0060070	canonical Wnt signaling pathway	TAS	biological process
GO:0001702	gastrulation with mouth forming second	IBA	biological process
GO:0003344	pericardium morphogenesis	IBA	biological process
GO:0007268	chemical synaptic transmission	IBA	biological process
GO:0009952	anterior/posterior pattern specification	IBA	biological process
GO:0014033	neural crest cell differentiation	IBA	biological process
GO:0021794	thalamus development	IBA	biological process
GO:0030278	regulation of ossification	IBA	biological process
GO:0030326	embryonic limb morphogenesis	IBA	biological process
GO:0030917	midbrain-hindbrain boundary development	IBA	biological process
GO:0034185	apolipoprotein binding	IBA	molecular function
GO:0060026	convergent extension	IBA	biological process
GO:0060059	embryonic retina morphogenesis in camera-type eye	IBA	biological process
GO:0060325	face morphogenesis	IBA	biological process
GO:0090009	primitive streak formation	IBA	biological process
GO:0090118	receptor-mediated endocytosis involved in cholesterol transport	IBA	biological process
GO:0090244	Wnt signaling pathway involved in somitogenesis	IBA	biological process
GO:0001843	neural tube closure	IBA	biological process
GO:0005041	low-density lipoprotein particle receptor activity	IBA	molecular function
GO:0009880	embryonic pattern specification	IBA	biological process
GO:0009986	cell surface	IBA	cellular component
GO:0014029	neural crest formation	IBA	biological process
GO:0015026	coreceptor activity	IBA	molecular function
GO:0021587	cerebellum morphogenesis	IBA	biological process
GO:0021987	cerebral cortex development	IBA	biological process
GO:0030901	midbrain development	IBA	biological process
GO:0035261	external genitalia morphogenesis	IBA	biological process
GO:0042475	odontogenesis of dentin-containing tooth	IBA	biological process
GO:0043025	neuronal cell body	IBA	cellular component
GO:0045202	synapse	IBA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0046849	bone remodeling	IBA	biological process
GO:0048596	embryonic camera-type eye morphogenesis	IBA	biological process
GO:0051091	positive regulation of DNA-binding transcription factor activity	IBA	biological process
GO:0060021	roof of mouth development	IBA	biological process
GO:0060349	bone morphogenesis	IBA	biological process
GO:0060444	branching involved in mammary gland duct morphogenesis	IBA	biological process
GO:0060535	trachea cartilage morphogenesis	IBA	biological process
GO:0090245	axis elongation involved in somitogenesis	IBA	biological process
GO:0060070	canonical Wnt signaling pathway	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0042813	Wnt-activated receptor activity	IEA	molecular function
GO:0017147	Wnt-protein binding	IEA	molecular function
GO:0060070	canonical Wnt signaling pathway	IEA	biological process
GO:0016055	Wnt signaling pathway	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006897	endocytosis	IEA	biological process
GO:0060070	canonical Wnt signaling pathway	IDA	biological process
GO:0060070	canonical Wnt signaling pathway	IDA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0005041	low-density lipoprotein particle receptor activity	IDA	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0090090	negative regulation of canonical Wnt signaling pathway	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0031901	early endosome membrane	TAS	cellular component
GO:0031901	early endosome membrane	TAS	cellular component
GO:1904886	beta-catenin destruction complex disassembly	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0098609	cell-cell adhesion	IEA	biological process
GO:0007268	chemical synaptic transmission	IEA	biological process
GO:0060070	canonical Wnt signaling pathway	IEA	biological process
GO:0045202	synapse	IEA	cellular component
GO:0043434	response to peptide hormone	IEA	biological process
GO:0043025	neuronal cell body	IEA	cellular component
GO:0007204	positive regulation of cytosolic calcium ion concentration	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0071936	coreceptor activity involved in Wnt signaling pathway	IDA	molecular function
GO:0005102	signaling receptor binding	IPI	molecular function
GO:0005109	frizzled binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0017147	Wnt-protein binding	IPI	molecular function
GO:0017147	Wnt-protein binding	IPI	molecular function
GO:0019210	kinase inhibitor activity	IMP	molecular function
GO:0019534	toxin transmembrane transporter activity	IMP	molecular function
GO:0019534	toxin transmembrane transporter activity	IMP	NOT|molecular function
GO:0005794	Golgi apparatus	IDA	colocalizes with
GO:0005901	caveola	IDA	colocalizes with
GO:0005901	caveola	IDA	colocalizes with
GO:0014033	neural crest cell differentiation	IDA	biological process
GO:0031410	cytoplasmic vesicle	IDA	cellular component
GO:0071901	negative regulation of protein serine/threonine kinase activity	IDA	biological process
GO:0001933	negative regulation of protein phosphorylation	IMP	biological process
GO:0034392	negative regulation of smooth muscle cell apoptotic process	IMP	biological process
GO:0045787	positive regulation of cell cycle	IMP	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IMP	biological process
GO:0005769	early endosome	IDA	colocalizes with
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0009986	cell surface	IDA	cellular component
GO:0014029	neural crest formation	IDA	biological process
GO:0044335	canonical Wnt signaling pathway involved in neural crest cell differentiation	IC	biological process
GO:0044340	canonical Wnt signaling pathway involved in regulation of cell proliferation	IC	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0051091	positive regulation of DNA-binding transcription factor activity	IDA	biological process
GO:0060070	canonical Wnt signaling pathway	IDA	biological process
GO:0060070	canonical Wnt signaling pathway	IDA	biological process
GO:0060070	canonical Wnt signaling pathway	IDA	biological process
GO:0060070	canonical Wnt signaling pathway	IDA	biological process
GO:0060070	canonical Wnt signaling pathway	IDA	biological process
GO:0060070	canonical Wnt signaling pathway	IDA	biological process
GO:0060070	canonical Wnt signaling pathway	IDA	biological process
GO:0060070	canonical Wnt signaling pathway	IDA	biological process
GO:0060070	canonical Wnt signaling pathway	IDA	biological process
GO:0006469	negative regulation of protein kinase activity	IMP	biological process
GO:0060070	canonical Wnt signaling pathway	IMP	biological process
GO:0060070	canonical Wnt signaling pathway	IMP	biological process
GO:0071397	cellular response to cholesterol	IMP	biological process
GO:0045121	membrane raft	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:1901998	toxin transport	IEA	biological process
GO:1901998	toxin transport	IEA	biological process
GO:0031410	cytoplasmic vesicle	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0060070	canonical Wnt signaling pathway	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa05010	Alzheimer disease
hsa04310	Wnt signaling pathway
hsa04150	mTOR signaling pathway
hsa05225	Hepatocellular carcinoma
hsa05226	Gastric cancer
hsa05224	Breast cancer
hsa04928	Parathyroid hormone synthesis, secretion and action

Diseases

Associated diseases	References
Tooth agenesis	KEGG:H00625
Breast cancer	KEGG:H00031
Coronary artery disease	KEGG:H01742
Tooth agenesis	KEGG:H00625
Breast cancer	KEGG:H00031
Coronary artery disease	KEGG:H01742
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq