Gene Gene information from NCBI Gene database.
Entrez ID 4040
Gene name LDL receptor related protein 6
Gene symbol LRP6
Synonyms (NCBI Gene)
ADCAD2EVR8STHAG7
Chromosome 12
Chromosome location 12p13.2
Summary 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
SNPs SNP information provided by dbSNP.
21
SNP ID Visualize variation Clinical significance Consequence
rs121918313 G>A Pathogenic Non coding transcript variant, coding sequence variant, missense variant
rs141212743 C>T Pathogenic Missense variant, non coding transcript variant, coding sequence variant
rs397515473 T>C Pathogenic Missense variant, non coding transcript variant, coding sequence variant
rs397515474 C>T Pathogenic Missense variant, non coding transcript variant, coding sequence variant
rs745688776 G>A,T Pathogenic Coding sequence variant, stop gained, non coding transcript variant, synonymous variant
miRNA miRNA information provided by mirtarbase database.
600
miRTarBase ID miRNA Experiments Reference
MIRT019112 hsa-miR-335-5p Microarray 18185580
MIRT025965 hsa-miR-7-5p Sequencing 20371350
MIRT050127 hsa-miR-26a-5p CLASH 23622248
MIRT049446 hsa-miR-92a-3p CLASH 23622248
MIRT046906 hsa-miR-221-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
76
GO ID Ontology Definition Evidence Reference
GO:0005041 Function Low-density lipoprotein particle receptor activity IDA 16263759
GO:0005102 Function Signaling receptor binding IPI 14739301
GO:0005109 Function Frizzled binding IPI 11029007
GO:0005515 Function Protein binding IPI 11029007, 11357136, 11433302, 11448771, 12897152, 15908424, 16365045, 16564009, 16815997, 16890161, 16989816, 17804805, 18528331, 18721193, 18762581, 19107203, 20059949, 20093360, 20093472, 21245321, 21304492, 21471202, 21944579, 21984209, 22491013, 22575959, 22726442, 22899650, 237
GO:0005576 Component Extracellular region TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603507 6698 ENSG00000070018
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O75581
Protein name Low-density lipoprotein receptor-related protein 6 (LRP-6)
Protein function Component of the Wnt-Fzd-LRP5-LRP6 complex that triggers beta-catenin signaling through inducing aggregation of receptor-ligand complexes into ribosome-sized signalosomes (PubMed:11357136, PubMed:11448771, PubMed:15778503, PubMed:16341017, PubMe
PDB 3S2K , 3S8V , 3S8Z , 3S94 , 3SOB , 3SOQ , 3SOV , 4A0P , 4DG6 , 4NM5 , 4NM7 , 5AIR , 5FWW , 5GJE , 6H15 , 6H16 , 6L6R , 7NAM , 8CTG , 8DVL , 8DVM , 8DVN , 8FFE , 8S7C
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00058 Ldl_recept_b 107 147 Low-density lipoprotein receptor repeat class B Repeat
PF00058 Ldl_recept_b 150 191 Low-density lipoprotein receptor repeat class B Repeat
PF00058 Ldl_recept_b 194 234 Low-density lipoprotein receptor repeat class B Repeat
PF14670 FXa_inhibition 286 323 Domain
PF00058 Ldl_recept_b 372 412 Low-density lipoprotein receptor repeat class B Repeat
PF00058 Ldl_recept_b 415 455 Low-density lipoprotein receptor repeat class B Repeat
PF00058 Ldl_recept_b 458 499 Low-density lipoprotein receptor repeat class B Repeat
PF14670 FXa_inhibition 592 627 Domain
PF00058 Ldl_recept_b 674 714 Low-density lipoprotein receptor repeat class B Repeat
PF00058 Ldl_recept_b 717 757 Low-density lipoprotein receptor repeat class B Repeat
PF00058 Ldl_recept_b 760 800 Low-density lipoprotein receptor repeat class B Repeat
PF14670 FXa_inhibition 893 929 Domain
PF00058 Ldl_recept_b 1069 1111 Low-density lipoprotein receptor repeat class B Repeat
PF00058 Ldl_recept_b 1114 1154 Low-density lipoprotein receptor repeat class B Repeat
PF00057 Ldl_recept_a 1247 1285 Low-density lipoprotein receptor domain class A Repeat
PF00057 Ldl_recept_a 1286 1322 Low-density lipoprotein receptor domain class A Repeat
PF00057 Ldl_recept_a 1324 1360 Low-density lipoprotein receptor domain class A Repeat
Tissue specificity TISSUE SPECIFICITY: Widely coexpressed with LRP5 during embryogenesis and in adult tissues.
Sequence
MGAVLRSLLACSFCVLLRAAPLLLYANRRDLRLVDATNGKENATIVVGGLEDAAAVDFVF
SHGLIYWSDVSEEAIKRTEFNKTESVQNVVVSGLLSPDGLACDWLGEKLYWTDSETNRIE
VSNLDGSLRKVLFWQELDQPRAIALDP
SSGFMYWTDWGEVPKIERAGMDGSSRFIIINSE
IYWPNGLTLDY
EEQKLYWADAKLNFIHKSNLDGTNRQAVVKGSLPHPFALTLFEDILYWT
DWSTHSILACNKYTGEGLREIHSDIFSPMDIHAFSQQRQPNATNPCGIDNGGCSHLCLMS
PVKPFYQCACPTGVKLLENGKTC
KDGATELLLLARRTDLRRISLDTPDFTDIVLQLEDIR
HAIAIDYDPVEGYIYWTDDEVRAIRRSFIDGSGSQFVVTAQIAHPDGIAVDWVARNLYWT
DTGTDRIEVTRLNGTMRKILISEDLEEPRAIVLDP
MVGYMYWTDWGEIPKIERAALDGSD
RVVLVNTSLGWPNGLALDY
DEGKIYWGDAKTDKIEVMNTDGTGRRVLVEDKIPHIFGFTL
LGDYVYWTDWQRRSIERVHKRSAEREVIIDQLPDLMGLKATNVHRVIGSNPCAEENGGCS
HLCLYRPQGLRCACPIGFELISDMKTC
IVPEAFLLFSRRADIRRISLETNNNNVAIPLTG
VKEASALDFDVTDNRIYWTDISLKTISRAFMNGSALEHVVEFGLDYPEGMAVDWLGKNLY
WADTGTNRIEVSKLDGQHRQVLVWKDLDSPRALALDP
AEGFMYWTEWGGKPKIDRAAMDG
SERTTLVPNVGRANGLTIDY
AKRRLYWTDLDTNLIESSNMLGLNREVIADDLPHPFGLTQ
YQDYIYWTDWSRRSIERANKTSGQNRTIIQGHLDYVMDILVFHSSRQSGWNECASSNGHC
SHLCLAVPVGGFVCGCPAHYSLNADNRTC
SAPTTFLLFSQKSAINRMVIDEQQSPDIILP
IHSLRNVRAIDYDPLDKQLYWIDSRQNMIRKAQEDGSQGFTVVVSSVPSQNLEIQPYDLS
IDIYSRYIYWTCEATNVINVTRLDGRSVGVVLKGEQDRPRAVVVNPEKGYMYFTNLQERS
PKIERAALDGTEREVLFFSGLSKPIALALDS
RLGKLFWADSDLRRIESSDLSGANRIVLE
DSNILQPVGLTVFE
NWLYWIDKQQQMIEKIDMTGREGRTKVQARIAQLSDIHAVKELNLQ
EYRQHPCAQDNGGCSHICLVKGDGTTRCSCPMHLVLLQDELSCGEPPTCSPQQFTCFTGE
IDCIPVAWRCDGFTECEDHSDELNC
PVCSESQFQCASGQCIDGALRCNGDANCQDKSDEK
NC
EVLCLIDQFRCANGQCIGKHKKCDHNVDCSDKSDELDCYPTEEPAPQATNTVGSVIGV
IVTIFVSGTVYFICQRMLCPRMKGDGETMTNDYVVHGPASVPLGYVPHPSSLSGSLPGMS
RGKSMISSLSIMGGSSGPPYDRAHVTGASSSSSSSTKGTYFPAILNPPPSPATERSHYTM
EFGYSSNSPSTHRSYSYRPYSYRHFAPPTTPCSTDVCDSDYAPSRRMTSVATAKGYTSDL
NYDSEPVPPPPTPRSQYLSAEENYESCPPSPYTERSYSHHLYPPPPSPCTDSS
Sequence length 1613
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  mTOR signaling pathway
Wnt signaling pathway
Parathyroid hormone synthesis, secretion and action
Alzheimer disease
Pathways of neurodegeneration - multiple diseases
Pathways in cancer
Breast cancer
Hepatocellular carcinoma
Gastric cancer
  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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
113
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autosomal dominant polycystic liver disease Likely pathogenic rs2137042982 RCV001844914
Coronary artery disease, autosomal dominant 2 Pathogenic rs121918313, rs1591901585 RCV000006645
RCV002487878
LRP6-related disorder Pathogenic; Likely pathogenic rs121918313, rs2498684078 RCV003421908
RCV003414448
Oligodontia Pathogenic rs2498872352, rs2498879920, rs1591901585 RCV003096093
RCV003096094
RCV000850307
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs74764146 RCV005923604
Autosomal dominant polycystic kidney disease Uncertain significance rs754570231, rs140962861 RCV001844908
RCV001844915
Cervical cancer Benign rs74764146 RCV005923606
Cholangiocarcinoma Benign rs4477532 RCV005919738
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 30841855
Adenoma Associate 25500543
Adrenocortical Carcinoma Associate 23866946
Alzheimer Disease Associate 34180138
Anodontia Associate 26387593, 26963285, 27049303, 28813618, 31914153, 36017684
Anophthalmia with pulmonary hypoplasia Associate 32799327
Atherosclerosis Associate 21245321, 35840698
Bone Diseases Associate 27310953
Bone Diseases Metabolic Associate 24584697, 33118644, 35840698
Brain Ischemia Associate 26031789