Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4040
Gene name Gene Name - the full gene name approved by the HGNC.
LDL receptor related protein 6
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
LRP6
Synonyms (NCBI Gene) Gene synonyms aliases
ADCAD2, EVR8, STHAG7
Disease Acronyms (UniProt) Disease acronyms from UniProt database
ADCAD2, STHAG7
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12p13.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001843 Process Neural tube closure IBA 21873635
GO:0001933 Process Negative regulation of protein phosphorylation IMP 16365045
GO:0003344 Process Pericardium morphogenesis IBA 21873635
GO:0005041 Function Low-density lipoprotein particle receptor activity IBA 21873635
GO:0005041 Function Low-density lipoprotein particle receptor activity IDA 16263759
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
603507 6698 ENSG00000070018
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Coronary artery disease CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT 2 (disorder) rs137852988, rs121918313, rs121918529, rs121918531, rs137852340, rs1555800701, rs1215189537 23703864, 17332414
Diabetes mellitus Diabetes Mellitus rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237
View all (293 more)
Hypercholesterolemia Hypercholesterolemia rs28942111, rs28942112, rs137852912, rs121908025, rs28942082, rs28942083, rs121908028, rs121908030, rs28942079, rs28942084, rs121908032, rs387906302, rs387906303, rs121908033, rs121908034
View all (1161 more)
Hypertension Hypertensive disease rs13306026
Unknown
Disease term Disease name Evidence References Source
Myocardial infarction Myocardial Infarction ClinVar
Tooth Agenesis tooth agenesis, tooth agenesis, selective, 7 GenCC
Associations from Text Mining
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